#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FRAS1	80144	broad.mit.edu	37	4	79387523	79387523	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:79387523C>A	ENST00000264895.6	+	50	7631	c.7191C>A	c.(7189-7191)gaC>gaA	p.D2397E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2397					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCTCAAGGACCGGTTCACCT	0.527																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(7189-7191)gaC>gaA		Fraser syndrome 1							76.0	77.0	76.0					4																	79387523		2075	4208	6283	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79387523C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7191C>A	4.37:g.79387523C>A	ENSP00000264895:p.Asp2397Glu						p.D2397E	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			50	7631	+			2396					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7191C>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.63|13.63	2.294081|2.294081	0.40594|0.40594	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.50001|.	0.76|.	4.86|4.86	3.1|3.1	0.35709|0.35709	.|.	0.101130|.	0.64402|.	N|.	0.000003|.	T|T	0.73536|0.73536	0.3599|0.3599	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	P|.	0.52189|.	0.692|.	T|T	0.72571|0.72571	-0.4253|-0.4253	10|5	0.72032|.	D|.	0.01|.	.|.	6.6749|6.6749	0.23087|0.23087	0.1364:0.664:0.0:0.1996|0.1364:0.664:0.0:0.1996	.|.	2397|.	E9PHH6|.	.|.	E|T	2397|626	ENSP00000264895:D2397E|.	ENSP00000264895:D2397E|.	D|P	+|+	3|1	2|0	FRAS1|FRAS1	79606547|79606547	0.981000|0.981000	0.34729|0.34729	0.593000|0.593000	0.28771|0.28771	0.870000|0.870000	0.49936|0.49936	1.348000|1.348000	0.33987|0.33987	0.744000|0.744000	0.32741|0.32741	0.585000|0.585000	0.79938|0.79938	GAC|CCG		0.527	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	30	1	0	2.37509e-13	1	2.68046e-13	20	30				
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358																																						ENST00000283195.6																		RANBP2/ALK(34)	6	Substitution - Missense(6)	p.H466Q(6)	endometrium(6)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1396-1398)caT>caG		RAN binding protein 2							69.0	78.0	75.0					2																	109367844		1510	2703	4213	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367844T>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1398T>G	2.37:g.109367844T>G	ENSP00000283195:p.His466Gln						p.H466Q	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1524	+			466					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1398T>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387877	0.04932	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.82526	-1.62	5.25	2.44	0.29823	.	.	.	.	.	T	0.43545	0.1252	N	0.00197	-1.87	0.20563	N	0.999888	B	0.02656	0.0	B	0.01281	0.0	T	0.50039	-0.8874	9	0.02654	T	1	-0.0972	5.4961	0.16804	0.3195:0.0:0.5396:0.1409	.	466	P49792	RBP2_HUMAN	Q	466	ENSP00000283195:H466Q	ENSP00000283195:H466Q	H	+	3	2	RANBP2	108734276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.307000	0.43682	0.319000	0.23209	-0.127000	0.14921	CAT		0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		4	379	0	0	0	1	0	4	379				
MRPS18A	55168	broad.mit.edu	37	6	43639572	43639572	+	Missense_Mutation	SNP	C	C	T	rs138289141	byFrequency	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43639572C>T	ENST00000372133.3	-	6	529	c.518G>A	c.(517-519)cGc>cAc	p.R173H	RSPH9_ENST00000372165.4_3'UTR|MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	173					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			CACGGGCATGCGCACCCTGTT	0.577													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20870	0.0		0.0	False		,,,				2504	0.0					ENST00000372133.3																			0				kidney(3)|large_intestine(1)	4						c.(517-519)cGc>cAc		mitochondrial ribosomal protein S18A		C	,HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	60.0	55.0	57.0		,518	2.0	1.0	6	dbSNP_134	57	0,8600		0,0,4300	yes	utr-3,missense	MRPS18A	NM_001193343.1,NM_018135.3	,29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,probably-damaging	,173/197	43639572	8,12998	2203	4300	6503	SO:0001583	missense	55168				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr6:43639572C>T	AB049952	CCDS4906.1, CCDS55006.1	6p21.3	2012-09-13			ENSG00000096080	ENSG00000096080		"""Mitochondrial ribosomal proteins / small subunits"""	14515	protein-coding gene	gene with protein product		611981				11279123, 11543634	Standard	NM_018135		Approved	FLJ10548, MRPS18-3	uc003ovy.2	Q9NVS2	OTTHUMG00000014750	ENST00000372133.3:c.518G>A	6.37:g.43639572C>T	ENSP00000361206:p.Arg173His					RSPH9_ENST00000372165.4_3'UTR|RSPH9_ENST00000372163.4_3'UTR|MRPS18A_ENST00000372116.1_3'UTR	p.R173H	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)		6	529	-	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		173					A6XND3|Q5QPA4	Missense_Mutation	SNP	ENST00000372133.3	37	c.518G>A	CCDS4906.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	11.27	1.590415	0.28357	0.001816	0.0	ENSG00000096080	ENST00000372133;ENST00000372118;ENST00000427312	.	.	.	5.75	1.98	0.26296	.	0.538685	0.19443	N	0.114140	T	0.19967	0.0480	L	0.61218	1.895	0.26258	N	0.978626	B;D	0.59767	0.002;0.986	B;P	0.47603	0.003;0.551	T	0.05257	-1.0896	9	0.51188	T	0.08	-7.0436	4.4656	0.11687	0.1659:0.6027:0.0:0.2314	.	247;173	Q9NVS2-2;Q9NVS2	.;RT18A_HUMAN	H	173;247;247	.	ENSP00000361190:R247H	R	-	2	0	MRPS18A	43747550	0.974000	0.33945	0.953000	0.39169	0.176000	0.22953	0.631000	0.24568	0.788000	0.33755	-0.152000	0.13540	CGC		0.577	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040697.1	NM_018135		3	32	0	0	0	1	0	3	32				
ATAD3B	83858	broad.mit.edu	37	1	1418031	1418031	+	Intron	SNP	G	G	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:1418031G>T	ENST00000308647.7	+	7	866				ATAD3B_ENST00000378741.3_Nonsense_Mutation_p.E95*|ATAD3B_ENST00000378736.3_3'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B							mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			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)		GCAGGTGGCTGAGAGGCAGCA	0.587																																						ENST00000378741.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(283-285)Gag>Tag		ATPase family, AAA domain containing 3B							42.0	59.0	53.0					1																	1418031		2203	4298	6501	SO:0001627	intron_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1418031G>T	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.750+37G>T	1.37:g.1418031G>T						ATAD3B_ENST00000378736.2_3'UTR|ATAD3B_ENST00000308647.7_Intron	p.E95*			Q5T9A4	ATD3B_HUMAN		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)	7	909	+	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)	0					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Nonsense_Mutation	SNP	ENST00000308647.7	37	c.283G>T	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	33	5.278911	0.95489	.	.	ENSG00000160072	ENST00000378741;ENST00000378736	.	.	.	1.42	-0.968	0.10313	.	.	.	.	.	.	.	.	.	.	.	0.49915	D	0.999834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6519	0.05002	0.2397:0.3378:0.4226:0.0	.	.	.	.	X	95	.	.	E	+	1	0	ATAD3B	1407894	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.277000	0.02812	-0.260000	0.09418	0.194000	0.17425	GAG		0.587	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		6	87	1	0	0.00198382	1	0.00200925	6	87				
IGF2R	3482	broad.mit.edu	37	6	160501242	160501242	+	Missense_Mutation	SNP	C	C	T	rs368781979		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160501242C>T	ENST00000356956.1	+	39	5916	c.5768C>T	c.(5767-5769)gCg>gTg	p.A1923V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1923	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				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)			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)	GAGAGCAGGGCGAAGCTGTGG	0.557																																						ENST00000356956.1																			0				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						c.(5767-5769)gCg>gTg		insulin-like growth factor 2 receptor		C	VAL/ALA	0,4406		0,0,2203	130.0	116.0	121.0		5768	4.8	0.0	6		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2R	NM_000876.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1923/2492	160501242	1,13005	2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160501242C>T	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.5768C>T	6.37:g.160501242C>T	ENSP00000349437:p.Ala1923Val						p.A1923V	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	39	5916	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1923			Fibronectin type-II.		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5768C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	8.172	0.791869	0.16258	0.0	1.16E-4	ENSG00000197081	ENST00000356956	T	0.50548	0.74	5.63	4.77	0.60923	Mannose-6-phosphate receptor, binding (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.593695	0.17810	N	0.161239	T	0.18800	0.0451	L	0.41710	1.295	0.09310	N	1	B	0.20671	0.047	B	0.08055	0.003	T	0.09314	-1.0680	10	0.46703	T	0.11	-6.6753	8.0398	0.30515	0.1949:0.7243:0.0:0.0808	.	1923	P11717	MPRI_HUMAN	V	1923	ENSP00000349437:A1923V	ENSP00000349437:A1923V	A	+	2	0	IGF2R	160421232	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	1.355000	0.34068	1.519000	0.48950	0.561000	0.74099	GCG		0.557	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		19	35	0	0	0	1	0	19	35				
MIPEP	4285	broad.mit.edu	37	13	24444199	24444199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24444199C>T	ENST00000382172.3	-	6	837	c.739G>A	c.(739-741)Gat>Aat	p.D247N		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	247					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATGATATGATCCCCAGCAGAT	0.393																																						ENST00000382172.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.(739-741)Gat>Aat		mitochondrial intermediate peptidase							180.0	151.0	161.0					13																	24444199		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24444199C>T		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.739G>A	13.37:g.24444199C>T	ENSP00000371607:p.Asp247Asn						p.D247N	NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	6	837	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	247					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.739G>A	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	C	8.790	0.930368	0.18131	.	.	ENSG00000027001	ENST00000382172	T	0.08546	3.08	5.92	-1.26	0.09376	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.753644	0.13890	N	0.355715	T	0.06917	0.0176	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.26916	-1.0089	10	0.37606	T	0.19	.	13.8677	0.63598	0.0:0.2461:0.0:0.7539	.	247	Q99797	MIPEP_HUMAN	N	247	ENSP00000371607:D247N	ENSP00000371607:D247N	D	-	1	0	MIPEP	23342199	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.746000	0.26275	-0.644000	0.05465	-0.145000	0.13849	GAT		0.393	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			31	20	0	0	0	1	0	31	20				
ZNF827	152485	broad.mit.edu	37	4	146813488	146813488	+	Silent	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:146813488C>T	ENST00000508784.1	-	3	1400	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	ZNF827_ENST00000379448.4_Silent_p.R391R|ZNF827_ENST00000513320.1_Silent_p.R41R			Q17R98	ZN827_HUMAN	zinc finger protein 827	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCACCATGTGCCGCTTCCAGT	0.453																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1171-1173)cgG>cgA		zinc finger protein 827							139.0	116.0	124.0					4																	146813488		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146813488C>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1173G>A	4.37:g.146813488C>T						ZNF827_ENST00000379448.4_Silent_p.R391R|ZNF827_ENST00000513320.1_Silent_p.R41R	p.R391R			Q17R98	ZN827_HUMAN			3	1400	-	all_hematologic(180;0.151)		391					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.1173G>A																																																																																					0.453	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		3	50	0	0	0	1	0	3	50				
ARSG	22901	broad.mit.edu	37	17	66343315	66343315	+	Splice_Site	SNP	T	T	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:66343315T>A	ENST00000448504.2	+	4	1250		c.e4+2		ARSG_ENST00000452479.2_Splice_Site|ARSG_ENST00000582154.1_Splice_Site	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACTTCCGTGGTAAGAATTCTT	0.463																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.e4+2		arylsulfatase G							105.0	101.0	102.0					17																	66343315		2203	4300	6503	SO:0001630	splice_region_variant	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66343315T>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.454+2T>A	17.37:g.66343315T>A						ARSG_ENST00000452479.2_Splice_Site|ARSG_ENST00000582154.1_Splice_Site		NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	1250	+								Q6UXF2|Q9Y2K4	Splice_Site	SNP	ENST00000448504.2	37		CCDS11676.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593246	0.66219	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2178	0.65805	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARSG	63854910	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.802000	0.69122	2.092000	0.63282	0.533000	0.62120	.		0.463	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960	Intron	5	65	0	0	0	1	0	5	65				
GATA3	2625	broad.mit.edu	37	10	8100437	8100437	+	Silent	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:8100437G>A	ENST00000346208.3	+	3	866	c.411G>A	c.(409-411)tcG>tcA	p.S137S	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.S137S			P23771	GATA3_HUMAN	GATA binding protein 3	137	Poly-Ser.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|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)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCGGCCTCGTCCTCCTCCT	0.716			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(409-411)tcG>tcA		GATA binding protein 3							42.0	54.0	50.0					10																	8100437		2203	4300	6503	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100437G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.411G>A	10.37:g.8100437G>A						GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.S137S	p.S137S	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			3	979	+			137			Poly-Ser.		Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.411G>A	CCDS7083.1																																																																																				0.716	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		48	87	0	0	0	1	0	48	87				
NDST1	3340	broad.mit.edu	37	5	149919762	149919762	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149919762C>G	ENST00000261797.6	+	8	2187	c.1685C>G	c.(1684-1686)cCc>cGc	p.P562R	NDST1_ENST00000523767.1_Missense_Mutation_p.P562R	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	562	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGACACTGCCCCCTGTGCAG	0.627																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1684-1686)cCc>cGc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							63.0	58.0	60.0					5																	149919762		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149919762C>G	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1685C>G	5.37:g.149919762C>G	ENSP00000261797:p.Pro562Arg					NDST1_ENST00000523767.1_Missense_Mutation_p.P562R	p.P562R	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	2187	+		all_hematologic(541;0.224)	562			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1685C>G	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591693	0.86953	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.51325	0.71;1.08	5.27	4.4	0.53042	.	0.045861	0.85682	D	0.000000	T	0.68586	0.3017	M	0.86953	2.85	0.80722	D	1	D;D	0.65815	0.995;0.994	P;P	0.58013	0.831;0.831	T	0.76833	-0.2813	10	0.87932	D	0	.	15.5298	0.75948	0.1394:0.8606:0.0:0.0	.	562;562	E7EVJ3;P52848	.;NDST1_HUMAN	R	562	ENSP00000428604:P562R;ENSP00000261797:P562R	ENSP00000261797:P562R	P	+	2	0	NDST1	149899955	1.000000	0.71417	0.993000	0.49108	0.895000	0.52256	7.770000	0.85390	1.320000	0.45209	0.563000	0.77884	CCC		0.627	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		13	40	0	0	0	1	0	13	40				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	99	0	0	0	1	0	4	99				
FAT1	2195	broad.mit.edu	37	4	187630667	187630667	+	Silent	SNP	T	T	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:187630667T>A	ENST00000441802.2	-	2	524	c.315A>T	c.(313-315)acA>acT	p.T105T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	105	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAGAATAGCTGTATTTCCTC	0.398										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(313-315)acA>acT		FAT atypical cadherin 1							102.0	98.0	99.0					4																	187630667		1900	4124	6024	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630667T>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.315A>T	4.37:g.187630667T>A		HNSCC(5;0.00058)					p.T105T	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	524	-			105			Cadherin 1.			Silent	SNP	ENST00000441802.2	37	c.315A>T	CCDS47177.1																																																																																				0.398	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		38	15	0	0	0	1	0	38	15				
CYP26B1	56603	broad.mit.edu	37	2	72359586	72359586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:72359586C>T	ENST00000001146.2	-	6	1512	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	CYP26B1_ENST00000412253.1_Missense_Mutation_p.G246S|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G362S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	437					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCGGACACCGCCACCGAAC	0.647																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1309-1311)Ggt>Agt		cytochrome P450, family 26, subfamily B, polypeptide 1							69.0	59.0	63.0					2																	72359586		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359586C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1309G>A	2.37:g.72359586C>T	ENSP00000001146:p.Gly437Ser					CYP26B1_ENST00000412253.1_Missense_Mutation_p.G246S|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G362S	p.G437S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1512	-			437					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1309G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864064	0.91511	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	D;D;D	0.98849	-5.18;-5.18;-5.18	5.64	4.74	0.60224	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98720	1.0708	10	0.87932	D	0	-31.7115	15.4221	0.75022	0.0:0.8603:0.1397:0.0	.	362;420;437	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	S	437;246;362	ENSP00000001146:G437S;ENSP00000401465:G246S;ENSP00000443304:G362S	ENSP00000001146:G437S	G	-	1	0	CYP26B1	72213094	1.000000	0.71417	0.578000	0.28575	0.697000	0.40408	7.813000	0.86123	1.476000	0.48215	0.655000	0.94253	GGT		0.647	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		18	25	0	0	0	1	0	18	25				
SCN1A	6323	broad.mit.edu	37	2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	rs146374754		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166872165C>T	ENST00000303395.4	-	17	3501	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|SCN1A_ENST00000423058.2_Missense_Mutation_p.V1168I|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1168					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTTCCACTACGGGCTGTTCT	0.413																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(3502-3504)Gta>Ata		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	145.0	135.0	138.0		3502,3418,3502,3469	3.6	0.8	2	dbSNP_134	138	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	29,29,29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	1168/2010,1140/1982,1168/2010,1157/1999	166872165	1,13003	2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166872165C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3502G>A	2.37:g.166872165C>T	ENSP00000303540:p.Val1168Ile					SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1168I|AC010127.3_ENST00000595647.1_RNA	p.V1168I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			17	3519	-			1168					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3502G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.290024	0.40494	0.0	1.16E-4	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.42	3.63	0.41609	Sodium ion transport-associated (1);	0.251153	0.27686	N	0.018261	T	0.72645	0.3486	L	0.38692	1.165	0.23293	N	0.997963	P;B;P	0.36712	0.566;0.003;0.484	B;B;B	0.37267	0.124;0.003;0.245	T	0.58567	-0.7614	10	0.18710	T	0.47	.	9.3209	0.37964	0.0:0.7803:0.0:0.2197	.	1157;1140;1168	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	1168;1168;1157;1140	ENSP00000407030:V1168I;ENSP00000303540:V1168I;ENSP00000364554:V1157I;ENSP00000386312:V1140I	ENSP00000303540:V1168I	V	-	1	0	SCN1A	166580411	1.000000	0.71417	0.812000	0.32479	0.893000	0.52053	2.644000	0.46613	0.668000	0.31126	-0.373000	0.07131	GTA		0.413	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		34	68	0	0	0	1	0	34	68				
TP53	7157	broad.mit.edu	37	17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C	rs587783063		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579362A>C	ENST00000269305.4	-	4	514	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_ENST00000420246.2_Missense_Mutation_p.F109V|TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V	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	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(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)	CCCAGACGGAAACCGTAGCTG	0.612		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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		31	Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(3)|Complex - deletion inframe(2)|Substitution - Missense(1)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(1)	ovary(6)|upper_aerodigestive_tract(5)|bone(4)|breast(4)|lung(3)|large_intestine(2)|central_nervous_system(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(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						c.(325-327)Ttc>Gtc	Other conserved DNA damage response genes	tumor protein p53							62.0	59.0	60.0					17																	7579362		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579362A>C	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.325T>G	17.37:g.7579362A>C	ENSP00000269305:p.Phe109Val	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)				TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V|TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000269305.4_Missense_Mutation_p.F109V	p.F109V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	457	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	109		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		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	c.325T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768678	0.69878	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99842	-7.1;-7.1;-7.1;-7.1;-7.1;-7.1;-7.1;-7.1	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);	0.104685	0.64402	D	0.000004	D	0.99796	0.9913	M	0.90977	3.165	0.44247	D	0.997097	D;D;D;D;D;D;D	0.89917	1.0;0.988;0.999;0.999;0.999;0.992;0.998	D;D;D;D;D;D;D	0.97110	1.0;0.914;0.994;0.997;0.996;0.994;0.974	D	0.97852	1.0275	10	0.87932	D	0	-31.6488	7.201	0.25881	0.9017:0.0:0.0983:0.0	.	70;109;109;109;109;109;109	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	109	ENSP00000410739:F109V;ENSP00000352610:F109V;ENSP00000269305:F109V;ENSP00000398846:F109V;ENSP00000391127:F109V;ENSP00000391478:F109V;ENSP00000424104:F109V;ENSP00000426252:F109V	ENSP00000269305:F109V	F	-	1	0	TP53	7520087	1.000000	0.71417	0.861000	0.33841	0.921000	0.55340	4.618000	0.61211	2.125000	0.65367	0.533000	0.62120	TTC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	14	0	0	0	1	0	52	14				
ELMO2	63916	broad.mit.edu	37	20	45000227	45000227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:45000227G>A	ENST00000290246.6	-	18	1878	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	ELMO2_ENST00000445496.2_Nonsense_Mutation_p.R379*|ELMO2_ENST00000372176.1_Nonsense_Mutation_p.R474*|ELMO2_ENST00000352077.2_Nonsense_Mutation_p.R560*|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000454865.2_Nonsense_Mutation_p.R294*|ELMO2_ENST00000396391.1_Nonsense_Mutation_p.R562*|ELMO2_ENST00000439931.2_Nonsense_Mutation_p.R574*	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	562	PH.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CCTTGCCTTCGGCGGTTCCCA	0.607																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1420-1422)Cga>Tga		engulfment and cell motility 2							39.0	37.0	37.0					20																	45000227		2203	4300	6503	SO:0001587	stop_gained	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45000227G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1684C>T	20.37:g.45000227G>A	ENSP00000290246:p.Arg562*					ELMO2_ENST00000290246.6_Nonsense_Mutation_p.R562*|ELMO2_ENST00000454865.2_Nonsense_Mutation_p.R294*|ELMO2_ENST00000445496.2_Nonsense_Mutation_p.R379*|ELMO2_ENST00000396391.1_Nonsense_Mutation_p.R562*|ELMO2_ENST00000352077.2_Nonsense_Mutation_p.R560*|ELMO2_ENST00000439931.2_Nonsense_Mutation_p.R574*	p.R474*			Q96JJ3	ELMO2_HUMAN			18	1888	-		Myeloproliferative disorder(115;0.0122)	562			ELMO.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Nonsense_Mutation	SNP	ENST00000290246.6	37	c.1420C>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733827	0.97796	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	.	.	.	4.69	3.67	0.42095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0347	10.2902	0.43592	0.0:0.0:0.6624:0.3376	.	.	.	.	X	562;474;129;562;574;379;294;560	.	ENSP00000290246:R562X	R	-	1	2	ELMO2	44433634	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.425000	0.34859	2.586000	0.87340	0.655000	0.94253	CGA		0.607	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		3	37	0	0	0	1	0	3	37				
GPR108	56927	broad.mit.edu	37	19	6733247	6733247	+	Silent	SNP	G	G	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:6733247G>C	ENST00000264080.7	-	9	815	c.789C>G	c.(787-789)ctC>ctG	p.L263L	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.L21L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	263						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGACCATGTAGAGCTTGAAAA	0.647																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(787-789)ctC>ctG		G protein-coupled receptor 108							59.0	68.0	65.0					19																	6733247		2097	4203	6300	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6733247G>C		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.789C>G	19.37:g.6733247G>C						GPR108_ENST00000430424.4_Silent_p.L21L	p.L263L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			9	815	-			263					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.789C>G	CCDS42479.1																																																																																				0.647	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			5	63	0	0	0	1	0	5	63				
ANKRD10	55608	broad.mit.edu	37	13	111532200	111532200	+	Silent	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:111532200G>A	ENST00000267339.2	-	6	1181	c.1047C>T	c.(1045-1047)caC>caT	p.H349H	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	349										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)			TCCCGTTCAGGTGCAGAGAAC	0.552																																						ENST00000267339.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(1045-1047)caC>caT		ankyrin repeat domain 10							108.0	90.0	96.0					13																	111532200		2203	4300	6503	SO:0001819	synonymous_variant	55608							g.chr13:111532200G>A	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.1047C>T	13.37:g.111532200G>A						ANKRD10_ENST00000375758.5_3'UTR	p.H349H	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)		6	1181	-	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)		349					Q5VW12|Q9BV12	Silent	SNP	ENST00000267339.2	37	c.1047C>T	CCDS9520.1																																																																																				0.552	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1			8	88	0	0	0	1	0	8	88				
ABLIM3	22885	broad.mit.edu	37	5	148626096	148626096	+	Missense_Mutation	SNP	G	G	A	rs369536848		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:148626096G>A	ENST00000506113.1	+	16	2020	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R513H|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R402H|ABLIM3_ENST00000517451.1_5'UTR|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R402H|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R418H|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R480H|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	513					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.R513H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTTGACCGCAGCATGCAC	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16352	0.0		0.0	False		,,,				2504	0.0					ENST00000506113.1																			1	Substitution - Missense(1)	p.R513H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1537-1539)cGc>cAc		actin binding LIM protein family, member 3							103.0	88.0	93.0					5																	148626096		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148626096G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1538G>A	5.37:g.148626096G>A	ENSP00000425394:p.Arg513His					ABLIM3_ENST00000504238.1_Missense_Mutation_p.R402H|ABLIM3_ENST00000517451.1_5'UTR|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R402H|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R480H|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R513H|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R418H	p.R513H			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2020	+			513					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1538G>A	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329386	0.41197	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.81	3.86	0.44501	.	0.157318	0.64402	N	0.000018	T	0.22003	0.0530	L	0.27053	0.805	0.45477	D	0.998446	B;B;B	0.17268	0.002;0.002;0.021	B;B;B	0.08055	0.002;0.002;0.003	T	0.02774	-1.1112	10	0.48119	T	0.1	.	11.825	0.52261	0.1523:0.0:0.8477:0.0	.	418;402;513	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	H	418;402;513;513;402;480	ENSP00000315841:R418H;ENSP00000348938:R402H;ENSP00000310309:R513H;ENSP00000425394:R513H;ENSP00000421183:R402H;ENSP00000420855:R480H	ENSP00000310309:R513H	R	+	2	0	ABLIM3	148606289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.502000	0.53332	0.672000	0.31204	0.655000	0.94253	CGC		0.493	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		8	27	0	0	0	1	0	8	27				
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	rs569602183	byFrequency	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47.0	39.0	41.0					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		5	59	1	0	0.000602214	1	0.000617856	5	59				
HELZ	9931	broad.mit.edu	37	17	65105677	65105677	+	Silent	SNP	A	A	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:65105677A>G	ENST00000358691.5	-	29	4210	c.4044T>C	c.(4042-4044)gcT>gcC	p.A1348A	HELZ_ENST00000580168.1_Silent_p.A1349A	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1348						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTGCGTGGGGAGCAGGAAGGG	0.473																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4042-4044)gcT>gcC		helicase with zinc finger							194.0	195.0	195.0					17																	65105677		2003	4170	6173	SO:0001819	synonymous_variant	9931							g.chr17:65105677A>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4044T>C	17.37:g.65105677A>G						HELZ_ENST00000580168.1_Silent_p.A1349A	p.A1348A	NM_014877.3	NP_055692.2					29	4210	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.4044T>C	CCDS42374.1																																																																																				0.473	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		38	43	0	0	0	1	0	38	43				
GPR50	9248	broad.mit.edu	37	X	150349538	150349538	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:150349538G>C	ENST00000218316.3	+	2	1552	c.1483G>C	c.(1483-1485)Gcc>Ccc	p.A495P	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	495	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGTGCTGCCACCAGCCA	0.592																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1483-1485)Gcc>Ccc		G protein-coupled receptor 50							105.0	118.0	114.0					X																	150349538		2120	4219	6339	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349538G>C	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1483G>C	X.37:g.150349538G>C	ENSP00000218316:p.Ala495Pro						p.A495P	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1552	+	Acute lymphoblastic leukemia(192;6.56e-05)		495			Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1483G>C	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449520	0.26074	.	.	ENSG00000102195	ENST00000218316	T	0.74315	-0.83	3.47	1.6	0.23607	.	0.784912	0.11581	N	0.549706	T	0.63117	0.2484	N	0.19112	0.55	0.24424	N	0.994606	P	0.44578	0.838	P	0.47470	0.548	T	0.54417	-0.8297	10	0.72032	D	0.01	-3.4871	5.0122	0.14319	0.1241:0.0:0.6611:0.2148	.	495	Q13585	MTR1L_HUMAN	P	495	ENSP00000218316:A495P	ENSP00000218316:A495P	A	+	1	0	GPR50	150100196	0.000000	0.05858	0.027000	0.17364	0.625000	0.37756	0.150000	0.16263	0.285000	0.22329	0.529000	0.55759	GCC		0.592	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		34	187	0	0	0	1	0	34	187				
SCAPER	49855	broad.mit.edu	37	15	76726457	76726457	+	Silent	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:76726457T>C	ENST00000563290.1	-	26	3368	c.3273A>G	c.(3271-3273)caA>caG	p.Q1091Q	SCAPER_ENST00000538941.2_Silent_p.Q845Q|SCAPER_ENST00000324767.7_Silent_p.Q1091Q			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1091						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAGGATCACCTTGTGAGGGTT	0.378																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(2533-2535)caA>caG		S-phase cyclin A-associated protein in the ER							108.0	98.0	101.0					15																	76726457		1826	4082	5908	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76726457T>C	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3273A>G	15.37:g.76726457T>C						SCAPER_ENST00000563290.1_Silent_p.Q1091Q|SCAPER_ENST00000324767.7_Silent_p.Q1091Q	p.Q845Q	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			26	3474	-			1090					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.2535A>G	CCDS53962.1																																																																																				0.378	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		14	31	0	0	0	1	0	14	31				
ABCB4	5244	broad.mit.edu	37	7	87053296	87053296	+	Missense_Mutation	SNP	C	C	T	rs373122168		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:87053296C>T	ENST00000265723.4	-	17	2248	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	ABCB4_ENST00000358400.3_Missense_Mutation_p.V713M|ABCB4_ENST00000359206.3_Missense_Mutation_p.V713M|ABCB4_ENST00000545634.1_Missense_Mutation_p.V713M|ABCB4_ENST00000453593.1_Missense_Mutation_p.V713M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	713	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.V713M(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACTGTTCCCACGACAAAGTAG	0.448																																						ENST00000265723.4																			1	Substitution - Missense(1)	p.V713M(1)	pancreas(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2137-2139)Gtg>Atg		ATP-binding cassette, sub-family B (MDR/TAP), member 4		C	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	171.0	167.0	168.0		2137,2137,2137	3.3	0.9	7		168	0,8600		0,0,4300	no	missense,missense,missense	ABCB4	NM_000443.3,NM_018849.2,NM_018850.2	21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	713/1280,713/1287,713/1233	87053296	1,13005	2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87053296C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2137G>A	7.37:g.87053296C>T	ENSP00000265723:p.Val713Met					ABCB4_ENST00000359206.3_Missense_Mutation_p.V713M|ABCB4_ENST00000358400.3_Missense_Mutation_p.V713M|ABCB4_ENST00000545634.1_Missense_Mutation_p.V713M|ABCB4_ENST00000453593.1_Missense_Mutation_p.V713M	p.V713M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			17	2248	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		713			ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2137G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039194	0.75617	2.27E-4	0.0	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	6.11	3.3	0.37823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.137441	0.49916	D	0.000137	D	0.89687	0.6787	L	0.39397	1.21	0.53005	D	0.999964	P;D;D	0.65815	0.519;0.994;0.995	B;P;D	0.64144	0.28;0.872;0.922	D	0.88097	0.2817	10	0.72032	D	0.01	-3.7616	8.9554	0.35814	0.1226:0.75:0.0:0.1274	.	713;713;713	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	M	713	ENSP00000352135:V713M;ENSP00000351172:V713M;ENSP00000265723:V713M;ENSP00000392983:V713M;ENSP00000437465:V713M	ENSP00000265723:V713M	V	-	1	0	ABCB4	86891232	0.071000	0.21146	0.891000	0.34965	0.986000	0.74619	0.550000	0.23345	0.440000	0.26502	0.655000	0.94253	GTG		0.448	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		22	148	0	0	0	1	0	22	148				
ZNF274	10782	broad.mit.edu	37	19	58718388	58718388	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58718388C>G	ENST00000326804.4	+	6	1015	c.556C>G	c.(556-558)Cac>Gac	p.H186D	ZNF274_ENST00000345813.3_Missense_Mutation_p.H154D|ZNF274_ENST00000424679.2_Missense_Mutation_p.H81D|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	187	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGAGCTGTGTCACCAGTGGCT	0.622																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(556-558)Cac>Gac		zinc finger protein 274							17.0	19.0	18.0					19																	58718388		2203	4298	6501	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58718388C>G	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.556C>G	19.37:g.58718388C>G	ENSP00000321209:p.His186Asp					ZNF274_ENST00000424679.2_Missense_Mutation_p.H81D|ZNF274_ENST00000345813.3_Missense_Mutation_p.H154D|ZNF274_ENST00000597818.1_3'UTR	p.H186D	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	6	1015	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	187			SCAN box.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.556C>G		.	.	.	.	.	.	.	.	.	.	C	10.34	1.322963	0.23994	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.05319	3.46;3.46;3.46	4.46	-0.293	0.12835	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	1.033320	0.07730	N	0.945115	T	0.05318	0.0141	.	.	.	0.22240	N	0.999261	P;P;P	0.37176	0.531;0.531;0.586	B;B;B	0.36378	0.143;0.201;0.223	T	0.43940	-0.9360	9	0.36615	T	0.2	-1.5204	7.4298	0.27120	0.0:0.6106:0.0:0.3894	.	82;155;187	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	D	186;154;81	ENSP00000321209:H186D;ENSP00000321187:H154D;ENSP00000409872:H81D	ENSP00000321209:H186D	H	+	1	0	ZNF274	63410200	0.000000	0.05858	0.544000	0.28141	0.181000	0.23173	0.332000	0.19751	-0.027000	0.13873	-0.140000	0.14226	CAC		0.622	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		5	19	0	0	0	1	0	5	19				
MIR30B	407030	broad.mit.edu	37	8	135812797	135812797	+	lincRNA	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:135812797C>A	ENST00000568248.1	-	0	0				MIR30B_ENST00000384850.1_RNA																							CACCTCCCAGCCAATCCATGT	0.358																																						ENST00000384850.1																			0																				45.0	41.0	42.0					8																	135812797		1568	3580	5148			0							g.chr8:135812797C>A																													8.37:g.135812797C>A								NR_029666.1						0	53	-									RNA	SNP	ENST00000568248.1	37																																																																																						0.358	AC083843.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378288.1			27	70	1	0	6.07407e-21	1	6.95437e-21	27	70				
COL5A3	50509	broad.mit.edu	37	19	10116304	10116304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10116304C>T	ENST00000264828.3	-	4	609	c.524G>A	c.(523-525)gGc>gAc	p.G175D		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	175	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAAGCGGGGGCCATGGCCCAA	0.592																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(523-525)gGc>gAc		collagen, type V, alpha 3							64.0	60.0	61.0					19																	10116304		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10116304C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.524G>A	19.37:g.10116304C>T	ENSP00000264828:p.Gly175Asp						p.G175D	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		4	609	-			175			TSP N-terminal.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.524G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	4.479	0.088869	0.08583	.	.	ENSG00000080573	ENST00000264828	T	0.02197	4.4	4.06	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.428442	0.21409	N	0.075020	T	0.01287	0.0042	N	0.12443	0.215	0.09310	N	1	B	0.30068	0.267	B	0.28139	0.086	T	0.48875	-0.8996	10	0.10111	T	0.7	.	7.5125	0.27581	0.0:0.8809:0.0:0.1191	.	175	P25940	CO5A3_HUMAN	D	175	ENSP00000264828:G175D	ENSP00000264828:G175D	G	-	2	0	COL5A3	9977304	0.002000	0.14202	0.018000	0.16275	0.614000	0.37383	1.268000	0.33062	0.949000	0.37715	0.313000	0.20887	GGC		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		9	37	0	0	0	1	0	9	37				
WTIP	126374	broad.mit.edu	37	19	34985493	34985493	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:34985493T>G	ENST00000590071.2	+	6	1371	c.1034T>G	c.(1033-1035)gTt>gGt	p.V345G	WTIP_ENST00000270288.6_Missense_Mutation_p.V569G	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	345	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTCTCTAGGGTTTTTGCACCA	0.577																																						ENST00000590071.2																			0				NS(1)|large_intestine(2)|lung(1)	4						c.(1033-1035)gTt>gGt		Wilms tumor 1 interacting protein							74.0	76.0	75.0					19																	34985493		1980	4158	6138	SO:0001583	missense	126374							g.chr19:34985493T>G	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.1034T>G	19.37:g.34985493T>G	ENSP00000466953:p.Val345Gly					WTIP_ENST00000270288.6_Missense_Mutation_p.V569G	p.V345G	NM_001080436.1	NP_001073905.1			LUSC - Lung squamous cell carcinoma(66;0.211)		6	1371	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)								Missense_Mutation	SNP	ENST00000590071.2	37	c.1034T>G	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.908165	0.72868	.	.	ENSG00000142279	ENST00000270288	D	0.87412	-2.25	4.84	3.82	0.43975	Zinc finger, LIM-type (2);	0.060438	0.64402	D	0.000003	D	0.85906	0.5806	L	0.31752	0.955	0.80722	D	1	D	0.56746	0.977	P	0.58577	0.841	D	0.83833	0.0253	10	0.39692	T	0.17	.	9.8027	0.40775	0.0:0.0834:0.0:0.9166	.	569	A6NIX2	WTIP_HUMAN	G	569	ENSP00000270288:V569G	ENSP00000270288:V569G	V	+	2	0	WTIP	39677333	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.627000	0.61276	0.982000	0.38575	0.379000	0.24179	GTT		0.577	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		13	28	0	0	0	1	0	13	28				
DMWD	1762	broad.mit.edu	37	19	46289695	46289695	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46289695C>A	ENST00000270223.6	-	3	1104	c.1059G>T	c.(1057-1059)tgG>tgT	p.W353C	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.W353C|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	353										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGGTGAAGGACCACACGGTGA	0.647																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1057-1059)tgG>tgT		dystrophia myotonica, WD repeat containing							72.0	67.0	69.0					19																	46289695		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46289695C>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1059G>T	19.37:g.46289695C>A	ENSP00000270223:p.Trp353Cys					DMWD_ENST00000377735.3_Missense_Mutation_p.W353C	p.W353C	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1104	-		Ovarian(192;0.0308)|all_neural(266;0.112)	353						Missense_Mutation	SNP	ENST00000270223.6	37	c.1059G>T	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749716	0.69533	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	D;D	0.83506	-1.73;-1.73	3.81	3.81	0.43845	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000002	D	0.93618	0.7962	H	0.96916	3.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	D	0.95291	0.8395	10	0.87932	D	0	-13.6122	13.5872	0.61937	0.0:1.0:0.0:0.0	.	38;353;353	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	C	353	ENSP00000366964:W353C;ENSP00000270223:W353C	ENSP00000270223:W353C	W	-	3	0	DMWD	50981535	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.749000	0.68704	2.165000	0.68154	0.462000	0.41574	TGG		0.647	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		28	81	1	0	1.13719e-10	1	1.24775e-10	28	81				
ATRX	546	broad.mit.edu	37	X	76855964	76855964	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:76855964A>C	ENST00000373344.5	-	23	5850	c.5636T>G	c.(5635-5637)tTa>tGa	p.L1879*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1841*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1879					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATTCTACTTAACATCTGAAA	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5635-5637)tTa>tGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						216.0	187.0	197.0					X																	76855964		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855964A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5636T>G	X.37:g.76855964A>C	ENSP00000362441:p.Leu1879*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1841*	p.L1879*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			23	5850	-			1879					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.5636T>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	48	14.343190	0.99791	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.2	5.2	0.72013	.	0.000000	0.53938	U	0.000044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5329	14.125	0.65215	1.0:0.0:0.0:0.0	.	.	.	.	X	1879;1841	.	ENSP00000362441:L1879X	L	-	2	0	ATRX	76742620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.713000	0.51359	0.437000	0.28790	TTA		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		121	175	0	0	0	1	0	121	175				
MTHFSD	64779	broad.mit.edu	37	16	86582070	86582070	+	Splice_Site	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:86582070C>A	ENST00000360900.6	-	4	376	c.351G>T	c.(349-351)caG>caT	p.Q117H	MTHFSD_ENST00000546093.1_De_novo_Start_OutOfFrame|MTHFSD_ENST00000322911.6_Splice_Site_p.Q116H|MTHFSD_ENST00000381214.5_Splice_Site_p.Q117H|MTHFSD_ENST00000543303.2_Splice_Site_p.Q116H|MTHFSD_ENST00000568037.1_5'UTR	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	117							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGTACTTACCTGAGAGGTGG	0.463																																						ENST00000546093.1																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11								methenyltetrahydrofolate synthetase domain containing							134.0	128.0	130.0					16																	86582070		1912	4110	6022	SO:0001630	splice_region_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86582070C>A	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.351+1G>T	16.37:g.86582070C>A						MTHFSD_ENST00000360900.6_Splice_Site_p.Q117_splice|MTHFSD_ENST00000322911.6_Splice_Site_p.Q116_splice|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000381214.5_Splice_Site_p.Q117_splice|MTHFSD_ENST00000543303.2_Splice_Site_p.Q116_splice				Q2M296	MTHSD_HUMAN			0	394	-								A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Translation_Start_Site	SNP	ENST00000360900.6	37		CCDS54047.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193209	0.78902	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911	T;T;T	0.41400	1.0;1.0;1.0	4.98	4.98	0.66077	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.053759	0.85682	D	0.000000	T	0.64294	0.2585	M	0.73598	2.24	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	0.65796	-0.6081	9	.	.	.	-17.9519	15.4266	0.75055	0.0:1.0:0.0:0.0	.	117;116;117;116	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	H	115;117;117;116	ENSP00000370612:Q117H;ENSP00000354152:Q117H;ENSP00000326777:Q116H	.	Q	-	3	2	MTHFSD	85139571	1.000000	0.71417	0.994000	0.49952	0.930000	0.56654	1.962000	0.40442	2.323000	0.78572	0.655000	0.94253	CAG		0.463	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764	Missense_Mutation	17	64	1	0	5.03518e-11	1	5.60253e-11	17	64				
LGSN	51557	broad.mit.edu	37	6	63995547	63995547	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:63995547G>T	ENST00000370657.4	-	3	308	c.275C>A	c.(274-276)gCa>gAa	p.A92E	LGSN_ENST00000370658.5_Missense_Mutation_p.A92E			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	92					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTCTGTTGCTTCAAATCG	0.423																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(274-276)gCa>gAa		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						124.0	104.0	111.0					6																	63995547		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63995547G>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.275C>A	6.37:g.63995547G>T	ENSP00000359691:p.Ala92Glu					LGSN_ENST00000370657.4_Missense_Mutation_p.A92E	p.A92E	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			3	308	-			92					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.275C>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696165	0.68386	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.41758	0.99;0.99	5.61	4.72	0.59763	Glutamine synthetase, beta-Grasp (3);	0.202768	0.51477	N	0.000094	T	0.46112	0.1376	L	0.56769	1.78	0.36939	D	0.892285	D;P	0.89917	1.0;0.814	D;P	0.74348	0.983;0.561	T	0.55055	-0.8200	10	0.87932	D	0	-10.818	8.6081	0.33786	0.0758:0.0:0.7711:0.1531	.	92;92	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	E	92	ENSP00000359692:A92E;ENSP00000359691:A92E	ENSP00000359691:A92E	A	-	2	0	LGSN	64053506	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.738000	0.68613	1.451000	0.47736	0.655000	0.94253	GCA		0.423	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		8	35	1	0	0.000157383	1	0.000168017	8	35				
FAM91A1	157769	broad.mit.edu	37	8	124787414	124787414	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:124787414G>T	ENST00000334705.7	+	3	431	c.185G>T	c.(184-186)aGa>aTa	p.R62I	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R62I	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	62										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GATGAACGCAGATACTATGAG	0.363																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(184-186)aGa>aTa		family with sequence similarity 91, member A1							88.0	78.0	81.0					8																	124787414		1882	4109	5991	SO:0001583	missense	157769							g.chr8:124787414G>T	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.185G>T	8.37:g.124787414G>T	ENSP00000335082:p.Arg62Ile					FAM91A1_ENST00000521166.1_Missense_Mutation_p.R62I	p.R62I	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	431	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		62					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.185G>T	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469177	0.43839	.	.	ENSG00000176853	ENST00000521166;ENST00000334705;ENST00000395537	T;T	0.44482	0.92;1.5	5.33	1.42	0.22433	.	0.125109	0.51477	U	0.000090	T	0.35480	0.0933	L	0.50333	1.59	0.43846	D	0.996431	B;B	0.28880	0.226;0.226	B;B	0.31686	0.134;0.134	T	0.14090	-1.0485	10	0.59425	D	0.04	.	9.0295	0.36249	0.7853:0.0:0.2147:0.0	.	62;62	E7ER68;Q658Y4	.;F91A1_HUMAN	I	62	ENSP00000429491:R62I;ENSP00000335082:R62I	ENSP00000335082:R62I	R	+	2	0	FAM91A1	124856595	1.000000	0.71417	0.940000	0.37924	0.885000	0.51271	2.887000	0.48586	0.042000	0.15717	-0.290000	0.09829	AGA		0.363	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		4	96	1	0	0.00024832	1	0.000261564	4	96				
RTP5	285093	broad.mit.edu	37	2	242814735	242814735	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:242814735C>T	ENST00000343216.3	+	2	1056	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_173821.2	NP_776182.2																					ACCTTCCCCTCCTCCCTCACC	0.607																																						ENST00000343216.3																			0											c.(1027-1029)tCc>tTc		CXXC finger protein 11							38.0	43.0	41.0					2																	242814735		2037	4174	6211	SO:0001583	missense	285093					integral to membrane		g.chr2:242814735C>T																												ENST00000343216.3:c.1028C>T	2.37:g.242814735C>T	ENSP00000345374:p.Ser343Phe						p.S343F	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1056	+			343						Missense_Mutation	SNP	ENST00000343216.3	37	c.1028C>T	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	10.13	1.267092	0.23136	.	.	ENSG00000188011	ENST00000343216	T	0.24538	1.85	2.84	-5.69	0.02428	.	.	.	.	.	T	0.16128	0.0388	N	0.19112	0.55	0.09310	N	1	P	0.50528	0.936	P	0.45343	0.477	T	0.21143	-1.0254	9	0.59425	D	0.04	-2.3842	8.4237	0.32716	0.0:0.6475:0.1643:0.1882	.	343	Q14D33	CB085_HUMAN	F	343	ENSP00000345374:S343F	ENSP00000345374:S343F	S	+	2	0	C2orf85	242463408	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.655000	0.01982	-1.437000	0.01967	-0.390000	0.06520	TCC		0.607	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			22	39	0	0	0	1	0	22	39				
FAM134B	54463	broad.mit.edu	37	5	16475174	16475174	+	Silent	SNP	C	C	T	rs369353830		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16475174C>T	ENST00000306320.9	-	9	1256	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM134B_ENST00000399793.2_Silent_p.T249T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	390					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTGCTGATTGCGTCTCTTTGC	0.493																																						ENST00000306320.9																			0				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						c.(1168-1170)acG>acA		family with sequence similarity 134, member B		C	,	1,3993		0,1,1996	176.0	174.0	174.0		1170,747	2.5	0.0	5		174	0,8360		0,0,4180	no	coding-synonymous,coding-synonymous	FAM134B	NM_001034850.1,NM_019000.3	,	0,1,6176	TT,TC,CC		0.0,0.025,0.0081	,	390/498,249/357	16475174	1,12353	1997	4180	6177	SO:0001819	synonymous_variant	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16475174C>T	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.1170G>A	5.37:g.16475174C>T						FAM134B_ENST00000399793.2_Silent_p.T249T	p.T390T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN			9	1256	-			390					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Silent	SNP	ENST00000306320.9	37	c.1170G>A	CCDS43304.1																																																																																				0.493	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		28	67	0	0	0	1	0	28	67				
GRIN3A	116443	broad.mit.edu	37	9	104357009	104357009	+	Intron	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:104357009G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.D68D	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			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)	CTCCATCACCGTCGGTGTCGA	0.572																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(202-204)gaC>gaT		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						89.0	86.0	87.0					9																	104357009		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357009G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15367C>T	9.37:g.104357009G>A						GRIN3A_ENST00000361820.3_Intron	p.D68D	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	274	-		Acute lymphoblastic leukemia(62;0.0527)	65			EF-hand 2.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.204C>T	CCDS6758.1																																																																																				0.572	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			20	66	0	0	0	1	0	20	66				
ELK3	2004	broad.mit.edu	37	12	96640892	96640892	+	Missense_Mutation	SNP	G	G	A	rs202181482		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:96640892G>A	ENST00000228741.3	+	3	708	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	128				A -> V (in Ref. 1; CAA85309). {ECO:0000305}.	angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A128T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CGGCCTGGCCGCCCTCAGAAG	0.622																																						ENST00000228741.3																			1	Substitution - Missense(1)	p.A128T(1)	prostate(1)	breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(382-384)Gcc>Acc		ELK3, ETS-domain protein (SRF accessory protein 2)							55.0	55.0	55.0					12																	96640892		2203	4300	6503	SO:0001583	missense	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96640892G>A	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.382G>A	12.37:g.96640892G>A	ENSP00000228741:p.Ala128Thr					ELK3_ENST00000552142.1_Intron	p.A128T	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			3	708	+	all_cancers(2;0.00173)		128	A -> V (in Ref. 1; CAA85309).				B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	c.382G>A	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466694	0.26335	.	.	ENSG00000111145	ENST00000228741;ENST00000547860	T;T	0.55413	0.52;0.52	5.63	4.72	0.59763	.	0.464126	0.25807	N	0.028169	T	0.48295	0.1492	L	0.52364	1.645	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38908	-0.9639	10	0.33940	T	0.23	.	15.4893	0.75593	0.0:0.0:0.8564:0.1436	.	128	P41970	ELK3_HUMAN	T	128	ENSP00000228741:A128T;ENSP00000447857:A128T	ENSP00000228741:A128T	A	+	1	0	ELK3	95165023	0.998000	0.40836	0.237000	0.24090	0.062000	0.15995	2.877000	0.48506	1.322000	0.45245	0.561000	0.74099	GCC		0.622	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		8	8	0	0	0	1	0	8	8				
PSMB7	5695	broad.mit.edu	37	9	127174692	127174692	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:127174692A>T	ENST00000259457.3	-	4	347	c.334T>A	c.(334-336)Tcc>Acc	p.S112T	PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_Missense_Mutation_p.S112T	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CGGCCAGTGGAGAGGGAGTGG	0.483																																						ENST00000536392.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						c.(334-336)Tcc>Acc		proteasome (prosome, macropain) subunit, beta type, 7							157.0	159.0	158.0					9																	127174692		2203	4300	6503	SO:0001583	missense	5695				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr9:127174692A>T	AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"""Proteasome (prosome, macropain) subunits"""	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.334T>A	9.37:g.127174692A>T	ENSP00000259457:p.Ser112Thr					PSMB7_ENST00000259457.3_Missense_Mutation_p.S112T|PSMB7_ENST00000498485.1_5'UTR	p.S112T			Q99436	PSB7_HUMAN			4	350	-			112					B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Missense_Mutation	SNP	ENST00000259457.3	37	c.334T>A	CCDS6855.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930494	0.52866	.	.	ENSG00000136930	ENST00000259457;ENST00000536392;ENST00000441097	T;T;T	0.21361	2.01;2.01;2.01	4.88	2.38	0.29361	.	0.099394	0.64402	N	0.000001	T	0.12987	0.0315	N	0.17838	0.53	0.49213	D	0.999764	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.0	T	0.07712	-1.0758	10	0.48119	T	0.1	-7.6744	9.4722	0.38849	0.7233:0.0:0.0:0.2767	.	112;112	B4E0P1;Q99436	.;PSB7_HUMAN	T	112	ENSP00000259457:S112T;ENSP00000440247:S112T;ENSP00000393157:S112T	ENSP00000259457:S112T	S	-	1	0	PSMB7	126214513	0.999000	0.42202	0.799000	0.32177	0.997000	0.91878	4.001000	0.57046	0.375000	0.24679	0.533000	0.62120	TCC		0.483	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	NM_002799		29	52	0	0	0	1	0	29	52				
ZNF324B	388569	broad.mit.edu	37	19	58967266	58967266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58967266G>A	ENST00000336614.4	+	4	1062	c.955G>A	c.(955-957)Ggc>Agc	p.G319S	ZNF324B_ENST00000545523.1_Missense_Mutation_p.G319S|ZNF324B_ENST00000391696.1_Missense_Mutation_p.G309S	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCCGTGTGCGGCAAGGCCTT	0.682																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(925-927)Ggc>Agc		zinc finger protein 324B							8.0	7.0	8.0					19																	58967266		2133	4161	6294	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967266G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.955G>A	19.37:g.58967266G>A	ENSP00000337473:p.Gly319Ser					ZNF324B_ENST00000336614.4_Missense_Mutation_p.G319S|ZNF324B_ENST00000545523.1_Missense_Mutation_p.G319S	p.G309S			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1857	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	319					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.925G>A	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479588	0.63849	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.57752	0.38;0.38;0.38	3.22	2.16	0.27623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.165195	0.29314	N	0.012505	T	0.38026	0.1025	L	0.33293	1	0.32108	N	0.589709	P;P	0.46656	0.868;0.882	B;B	0.40782	0.34;0.204	T	0.51434	-0.8706	10	0.87932	D	0	.	7.5372	0.27717	0.1393:0.0:0.8607:0.0	.	319;309	Q6AW86;C9JTQ8	Z324B_HUMAN;.	S	319;319;309	ENSP00000337473:G319S;ENSP00000438930:G319S;ENSP00000375578:G309S	ENSP00000337473:G319S	G	+	1	0	ZNF324B	63659078	0.131000	0.22433	0.649000	0.29536	0.656000	0.38851	1.402000	0.34600	0.641000	0.30601	0.591000	0.81541	GGC		0.682	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		7	26	0	0	0	1	0	7	26				
BCL6B	255877	broad.mit.edu	37	17	6928052	6928052	+	Missense_Mutation	SNP	A	A	G	rs201330544		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:6928052A>G	ENST00000293805.5	+	4	826	c.734A>G	c.(733-735)gAa>gGa	p.E245G		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	245					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						agcagcagTGAAGAAGGACCC	0.582																																						ENST00000293805.5																			0				skin(1)	1						c.(733-735)gAa>gGa		B-cell CLL/lymphoma 6, member B							12.0	14.0	13.0					17																	6928052		2079	4172	6251	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6928052A>G	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.734A>G	17.37:g.6928052A>G	ENSP00000293805:p.Glu245Gly						p.E245G	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			4	826	+			245					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.734A>G	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.325864	0.24080	.	.	ENSG00000161940	ENST00000293805	T	0.08896	3.04	5.65	5.65	0.86999	.	0.219628	0.49916	D	0.000121	T	0.06872	0.0175	N	0.19112	0.55	0.32121	N	0.588071	B	0.10296	0.003	B	0.11329	0.006	T	0.03981	-1.0987	10	0.54805	T	0.06	.	12.1892	0.54261	1.0:0.0:0.0:0.0	.	245	Q8N143	BCL6B_HUMAN	G	245	ENSP00000293805:E245G	ENSP00000293805:E245G	E	+	2	0	BCL6B	6868776	1.000000	0.71417	0.966000	0.40874	0.131000	0.20780	2.270000	0.43355	2.371000	0.80710	0.533000	0.62120	GAA		0.582	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		9	21	0	0	0	1	0	9	21				
MICAL2	9645	broad.mit.edu	37	11	12231106	12231106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:12231106G>A	ENST00000256194.4	+	6	940	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	MICAL2_ENST00000537344.1_Missense_Mutation_p.V218I|MICAL2_ENST00000342902.5_Missense_Mutation_p.V218I|MICAL2_ENST00000379612.3_Missense_Mutation_p.V218I|MICAL2_ENST00000527546.1_Missense_Mutation_p.V218I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	218	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGAGTTTGACGTCATCATTGG	0.522																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(652-654)Gtc>Atc		microtubule associated monooxygenase, calponin and LIM domain containing 2							156.0	145.0	149.0					11																	12231106		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12231106G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.652G>A	11.37:g.12231106G>A	ENSP00000256194:p.Val218Ile					MICAL2_ENST00000527546.1_Missense_Mutation_p.V218I|MICAL2_ENST00000379612.3_Missense_Mutation_p.V218I|MICAL2_ENST00000342902.5_Missense_Mutation_p.V218I|MICAL2_ENST00000537344.1_Missense_Mutation_p.V218I	p.V218I	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	6	940	+			218					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.652G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303143	0.95601	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	5.3	5.3	0.74995	Aromatic-ring hydroxylase-like (1);	0.000000	0.64402	D	0.000001	T	0.38295	0.1035	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.981;0.999;0.994	P;D;D;P;P	0.79108	0.863;0.992;0.915;0.733;0.884	T	0.42155	-0.9468	10	0.87932	D	0	.	18.7472	0.91797	0.0:0.0:1.0:0.0	.	218;218;218;218;218	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	I	218	ENSP00000441689:V218I;ENSP00000256194:V218I;ENSP00000433965:V218I;ENSP00000344894:V218I;ENSP00000368932:V218I	ENSP00000256194:V218I	V	+	1	0	MICAL2	12187682	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.623000	0.98386	2.755000	0.94549	0.557000	0.71058	GTC		0.522	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		20	87	0	0	0	1	0	20	87				
CEP164	22897	broad.mit.edu	37	11	117280576	117280576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:117280576T>C	ENST00000278935.3	+	30	4138	c.3991T>C	c.(3991-3993)Tcc>Ccc	p.S1331P	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1331					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	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;4e-05)|Epithelial(105;0.0008)		TACACCCACGTCCACCCAATG	0.627																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3991-3993)Tcc>Ccc		centrosomal protein 164kDa							98.0	96.0	97.0					11																	117280576		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280576T>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3991T>C	11.37:g.117280576T>C	ENSP00000278935:p.Ser1331Pro					CEP164_ENST00000533706.1_3'UTR	p.S1331P	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	4138	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1331					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3991T>C	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	T	3.716	-0.058633	0.07317	.	.	ENSG00000110274	ENST00000278935	T	0.27720	1.65	4.58	2.03	0.26663	.	0.311205	0.23494	N	0.047578	T	0.16727	0.0402	L	0.31752	0.955	0.24335	N	0.994984	B;B	0.14438	0.01;0.01	B;B	0.16289	0.015;0.015	T	0.06463	-1.0825	10	0.35671	T	0.21	-0.8546	2.3711	0.04331	0.0:0.209:0.3044:0.4866	.	1331;1326	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	P	1331	ENSP00000278935:S1331P	ENSP00000278935:S1331P	S	+	1	0	CEP164	116785786	0.000000	0.05858	0.926000	0.36857	0.175000	0.22909	0.260000	0.18424	1.698000	0.51180	0.459000	0.35465	TCC		0.627	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		44	70	0	0	0	1	0	44	70				
ZBTB21	49854	broad.mit.edu	37	21	43411973	43411973	+	Silent	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:43411973G>A	ENST00000310826.5	-	3	2415	c.2232C>T	c.(2230-2232)tgC>tgT	p.C744C	ZBTB21_ENST00000398505.3_Silent_p.C543C|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398499.1_Silent_p.C744C|ZBTB21_ENST00000398511.3_Silent_p.C744C	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	744					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CCGCGTTCCGGCACAGCCGCT	0.547																																						ENST00000310826.5																			0											c.(2230-2232)tgC>tgT		zinc finger and BTB domain containing 21							141.0	164.0	156.0					21																	43411973		2203	4300	6503	SO:0001819	synonymous_variant	49854							g.chr21:43411973G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2232C>T	21.37:g.43411973G>A						ZBTB21_ENST00000398511.3_Silent_p.C744C|ZBTB21_ENST00000398499.1_Silent_p.C744C|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398505.3_Silent_p.C543C	p.C744C	NM_001098402.1	NP_001091872.1					3	2415	-								Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	c.2232C>T	CCDS13678.1																																																																																				0.547	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		5	488	0	0	0	1	0	5	488				
PCDHB6	56130	broad.mit.edu	37	5	140531989	140531989	+	Silent	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140531989G>A	ENST00000231136.1	+	1	2151	c.2151G>A	c.(2149-2151)gcG>gcA	p.A717A	PCDHB6_ENST00000543635.1_Silent_p.A581A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	717					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.652																																						ENST00000231136.1																			0				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						c.(2149-2151)gcG>gcA									79.0	93.0	88.0					5																	140531989		2202	4300	6502	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531989G>A	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.2151G>A	5.37:g.140531989G>A						PCDHB6_ENST00000543635.1_Silent_p.A581A	p.A717A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2151	+			717					B2R8R9	Silent	SNP	ENST00000231136.1	37	c.2151G>A	CCDS4248.1																																																																																				0.652	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		50	177	0	0	0	1	0	50	177				
ZNF266	10781	broad.mit.edu	37	19	9524632	9524632	+	Silent	SNP	G	G	C	rs563874624	byFrequency	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9524632G>C	ENST00000592904.1	-	5	3045	c.969C>G	c.(967-969)ccC>ccG	p.P323P	ZNF266_ENST00000592292.1_Silent_p.P323P|ZNF266_ENST00000361151.1_Silent_p.P323P|ZNF266_ENST00000588221.1_Silent_p.P323P|ZNF266_ENST00000590306.1_Silent_p.P323P|ZNF266_ENST00000588933.1_Silent_p.P323P|ZNF266_ENST00000361451.2_Silent_p.P323P			Q14584	ZN266_HUMAN	zinc finger protein 266	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TACATTCAAAGGGATCCTTTG	0.373																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(967-969)ccC>ccG		zinc finger protein 266							91.0	90.0	90.0					19																	9524632		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9524632G>C	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.969C>G	19.37:g.9524632G>C						ZNF266_ENST00000588933.1_Silent_p.P323P|ZNF266_ENST00000590306.1_Silent_p.P323P|ZNF266_ENST00000588221.1_Silent_p.P323P|ZNF266_ENST00000361451.2_Silent_p.P323P|ZNF266_ENST00000361151.1_Silent_p.P323P|ZNF266_ENST00000592292.1_Silent_p.P323P	p.P323P			Q14584	ZN266_HUMAN			5	3045	-			323					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Silent	SNP	ENST00000592904.1	37	c.969C>G	CCDS12213.1																																																																																				0.373	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			40	74	0	0	0	1	0	40	74				
MAGEC1	9947	broad.mit.edu	37	X	140994709	140994709	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:140994709G>C	ENST00000285879.4	+	4	1805	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	507										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTACTTTTGAGGGTTTTCC	0.507										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1519-1521)Gag>Cag		melanoma antigen family C, 1							115.0	125.0	121.0					X																	140994709		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994709G>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1519G>C	X.37:g.140994709G>C	ENSP00000285879:p.Glu507Gln	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.E507Q	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1805	+	Acute lymphoblastic leukemia(192;6.56e-05)		507					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1519G>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	8.278	0.814824	0.16607	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	0.892	0.892	0.19230	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	0.09310	N	0.999999	P	0.51933	0.949	B	0.42625	0.393	T	0.49943	-0.8885	9	0.66056	D	0.02	.	5.1299	0.14905	0.0:0.3726:0.6274:0.0	.	507	O60732	MAGC1_HUMAN	Q	507	ENSP00000285879:E507Q	ENSP00000285879:E507Q	E	+	1	0	MAGEC1	140822375	0.000000	0.05858	0.118000	0.21660	0.119000	0.20118	-0.065000	0.11617	0.147000	0.19030	0.149000	0.16113	GAG		0.507	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		73	135	0	0	0	1	0	73	135				
C1orf116	79098	broad.mit.edu	37	1	207195906	207195906	+	Silent	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207195906T>C	ENST00000359470.5	-	4	1452	c.1203A>G	c.(1201-1203)gcA>gcG	p.A401A	C1orf116_ENST00000461135.2_Silent_p.A155A	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	401	Ala-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					caggaatagctgctgaggcct	0.627																																						ENST00000359470.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(1201-1203)gcA>gcG		chromosome 1 open reading frame 116							37.0	41.0	39.0					1																	207195906		2200	4298	6498	SO:0001819	synonymous_variant	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195906T>C		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1203A>G	1.37:g.207195906T>C						C1orf116_ENST00000461135.2_Silent_p.A155A	p.A401A	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			4	1452	-	Prostate(682;0.19)		401			Ala-rich.		C9JV41|Q658X3	Silent	SNP	ENST00000359470.5	37	c.1203A>G	CCDS1475.1																																																																																				0.627	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		22	44	0	0	0	1	0	22	44				
ZNF813	126017	broad.mit.edu	37	19	53993761	53993761	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:53993761A>C	ENST00000396403.4	+	4	403	c.275A>C	c.(274-276)aAa>aCa	p.K92T	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAAATTGATAAAGATATTCAT	0.403																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(274-276)aAa>aCa		zinc finger protein 813							90.0	96.0	94.0					19																	53993761		2196	4298	6494	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53993761A>C	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.275A>C	19.37:g.53993761A>C	ENSP00000379684:p.Lys92Thr					ZNF813_ENST00000396421.4_Intron	p.K92T	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	403	+			92						Missense_Mutation	SNP	ENST00000396403.4	37	c.275A>C	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.075955	0.36662	.	.	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.06142	3.78;3.34;4.91	0.467	0.467	0.16721	.	.	.	.	.	T	0.20981	0.0505	M	0.86502	2.82	0.33585	D	0.600396	D	0.69078	0.997	D	0.67231	0.95	T	0.22347	-1.0219	9	0.49607	T	0.09	.	5.1617	0.15064	0.9999:0.0:1.0E-4:0.0	.	92	Q6ZN06	ZN813_HUMAN	T	39;92;123	ENSP00000419821:K39T;ENSP00000379684:K92T;ENSP00000418289:K123T	ENSP00000379684:K92T	K	+	2	0	ZNF813	58685573	0.001000	0.12720	0.004000	0.12327	0.136000	0.21042	-0.445000	0.06845	0.393000	0.25203	0.172000	0.16884	AAA		0.403	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		21	76	0	0	0	1	0	21	76				
LCK	3932	broad.mit.edu	37	1	32741979	32741979	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:32741979C>A	ENST00000336890.5	+	8	811	c.673C>A	c.(673-675)Cag>Aag	p.Q225K	LCK_ENST00000333070.4_Missense_Mutation_p.Q225K|LCK_ENST00000373564.3_Intron	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	225	Interaction with PTPRH.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CCGCCCCTGCCAGACCCAGAA	0.647			T	TRB@	T-ALL																																	ENST00000333070.4				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(673-675)Cag>Aag		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						45.0	55.0	52.0					1																	32741979		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32741979C>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.673C>A	1.37:g.32741979C>A	ENSP00000337825:p.Gln225Lys					LCK_ENST00000373564.3_Intron|LCK_ENST00000336890.5_Missense_Mutation_p.Q225K	p.Q225K	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN			8	773	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	225			Interaction with PTPRH.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.673C>A	CCDS359.1	.	.	.	.	.	.	.	.	.	.	.	14.76	2.632301	0.46944	.	.	ENSG00000182866	ENST00000336890;ENST00000373557;ENST00000333070;ENST00000436824	T;T;T	0.72835	1.81;-0.69;1.81	4.91	4.91	0.64330	SH2 motif (1);	0.000000	0.64402	D	0.000005	T	0.53899	0.1825	N	0.12637	0.245	0.80722	D	1	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.15052	0.005;0.012;0.004	T	0.47674	-0.9099	10	0.20519	T	0.43	.	17.4655	0.87631	0.0:1.0:0.0:0.0	.	269;225;225	E7EN21;P06239-3;P06239	.;.;LCK_HUMAN	K	225;269;225;269	ENSP00000337825:Q225K;ENSP00000362658:Q269K;ENSP00000328213:Q225K	ENSP00000328213:Q225K	Q	+	1	0	LCK	32514566	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.122000	0.50446	2.735000	0.93741	0.555000	0.69702	CAG		0.647	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		5	40	1	0	0.000602214	1	0.000617856	5	40				
FLG2	388698	broad.mit.edu	37	1	152328133	152328133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:152328133C>T	ENST00000388718.5	-	3	2201	c.2129G>A	c.(2128-2130)gGg>gAg	p.G710E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	710	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACTTGACCCATGTTGACC	0.473																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2128-2130)gGg>gAg		filaggrin family member 2							369.0	360.0	363.0					1																	152328133		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328133C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2129G>A	1.37:g.152328133C>T	ENSP00000373370:p.Gly710Glu					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G710E	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2201	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		710			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2129G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466207	0.26335	.	.	ENSG00000143520	ENST00000388718	T	0.21191	2.02	4.38	3.45	0.39498	.	.	.	.	.	T	0.13500	0.0327	M	0.64170	1.965	0.09310	N	1	D	0.60160	0.987	P	0.51516	0.672	T	0.09292	-1.0681	9	0.21014	T	0.42	0.1217	5.9741	0.19369	0.1851:0.711:0.0:0.1039	.	710	Q5D862	FILA2_HUMAN	E	710	ENSP00000373370:G710E	ENSP00000373370:G710E	G	-	2	0	FLG2	150594757	0.187000	0.23238	0.003000	0.11579	0.017000	0.09413	2.095000	0.41729	1.990000	0.58119	0.586000	0.80456	GGG		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		24	383	0	0	0	1	0	24	383				
PPP1R3A	5506	broad.mit.edu	37	7	113558342	113558342	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:113558342T>A	ENST00000284601.3	-	1	778	c.710A>T	c.(709-711)gAg>gTg	p.E237V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	237					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGGCTCCGGCTCTTGTTCTTT	0.313																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(709-711)gAg>gTg		protein phosphatase 1, regulatory subunit 3A							109.0	113.0	112.0					7																	113558342		2201	4297	6498	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558342T>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.710A>T	7.37:g.113558342T>A	ENSP00000284601:p.Glu237Val						p.E237V	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	778	-			237					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.710A>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	9.476	1.096975	0.20552	.	.	ENSG00000154415	ENST00000284601	T	0.16897	2.31	5.81	5.81	0.92471	.	0.418550	0.25903	N	0.027544	T	0.09774	0.0240	L	0.34521	1.04	0.36673	D	0.878607	P	0.38788	0.647	B	0.27380	0.079	T	0.27226	-1.0080	10	0.27082	T	0.32	-0.2729	7.0511	0.25073	0.1392:0.0:0.244:0.6168	.	237	Q16821	PPR3A_HUMAN	V	237	ENSP00000284601:E237V	ENSP00000284601:E237V	E	-	2	0	PPP1R3A	113345578	0.008000	0.16893	1.000000	0.80357	0.930000	0.56654	1.149000	0.31626	2.217000	0.71921	0.482000	0.46254	GAG		0.313	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		9	180	0	0	0	1	0	9	180				
FADS1	3992	broad.mit.edu	37	11	61578506	61578506	+	Silent	SNP	C	C	T	rs557605527		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:61578506C>T	ENST00000350997.7	-	4	958	c.726G>A	c.(724-726)tcG>tcA	p.S242S	FADS1_ENST00000542506.1_Silent_p.S101S|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Silent_p.S101S	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	185					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTGAAGACCGACAGGTGCC	0.557																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(724-726)tcG>tcA		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						67.0	74.0	72.0					11																	61578506		2091	4225	6316	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61578506C>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.726G>A	11.37:g.61578506C>T						FADS1_ENST00000542506.1_Silent_p.S101S|FADS1_ENST00000433932.1_Silent_p.S101S|FADS2_ENST00000574708.1_Intron	p.S242S	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			4	958	-			185					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.726G>A	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	C	3.034	-0.198894	0.06219	.	.	ENSG00000149485	ENST00000491310	.	.	.	5.28	-10.6	0.00265	.	.	.	.	.	T	0.32526	0.0832	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40098	-0.9581	4	.	.	.	-46.1838	1.9068	0.03278	0.2004:0.1701:0.3944:0.2351	.	.	.	.	Q	155	.	.	R	-	2	0	FADS1	61335082	0.000000	0.05858	0.069000	0.20011	0.443000	0.32047	-4.822000	0.00181	-2.703000	0.00397	-1.003000	0.02500	CGG		0.557	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		3	44	0	0	0	1	0	3	44				
BAD	572	broad.mit.edu	37	11	64051659	64051659	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64051659T>C	ENST00000394532.3	-	1	452	c.182A>G	c.(181-183)cAt>cGt	p.H61R	GPR137_ENST00000411458.1_5'Flank|GPR137_ENST00000313074.3_5'Flank|BAD_ENST00000309032.3_Missense_Mutation_p.H61R|BAD_ENST00000394531.3_Missense_Mutation_p.H61R|GPR137_ENST00000377702.4_5'Flank|GPR137_ENST00000438980.2_5'Flank|BAD_ENST00000544785.1_Missense_Mutation_p.H61R|GPR137_ENST00000539851.1_5'Flank	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	61					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CTTACCTCCATGATGGCTGCT	0.657																																						ENST00000394532.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(181-183)cAt>cGt		BCL2-associated agonist of cell death							67.0	53.0	58.0					11																	64051659		2196	4284	6480	SO:0001583	missense	572				activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding	g.chr11:64051659T>C	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.182A>G	11.37:g.64051659T>C	ENSP00000378040:p.His61Arg					BAD_ENST00000394531.3_Missense_Mutation_p.H61R|BAD_ENST00000309032.3_Missense_Mutation_p.H61R|BAD_ENST00000544785.1_Missense_Mutation_p.H61R	p.H61R	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN			1	452	-			61					O14803|Q6FH21	Missense_Mutation	SNP	ENST00000394532.3	37	c.182A>G	CCDS8065.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.850106	0.51270	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000544785;ENST00000394531	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	3.84	3.84	0.44239	.	0.166320	0.37623	N	0.002018	T	0.62502	0.2433	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.78314	0.928;0.991	T	0.64702	-0.6345	10	0.62326	D	0.03	-2.1559	9.2891	0.37775	0.0:0.0:0.0:1.0	.	61;61	A8MXU7;Q92934	.;BAD_HUMAN	R	61	ENSP00000378040:H61R;ENSP00000309103:H61R;ENSP00000440575:H61R;ENSP00000378039:H61R	ENSP00000309103:H61R	H	-	2	0	BAD	63808235	1.000000	0.71417	0.999000	0.59377	0.328000	0.28507	2.225000	0.42954	1.961000	0.56991	0.459000	0.35465	CAT		0.657	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		14	29	0	0	0	1	0	14	29				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	78	0	0	0	1	0	5	78				
SDSL	113675	broad.mit.edu	37	12	113865861	113865861	+	Missense_Mutation	SNP	C	C	T	rs149197891	byFrequency	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:113865861C>T	ENST00000403593.4	+	2	336	c.74C>T	c.(73-75)gCg>gTg	p.A25V	SDSL_ENST00000345635.4_Missense_Mutation_p.A25V			Q96GA7	SDSL_HUMAN	serine dehydratase-like	25					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GAGAGCTGGGCGCTGTCCCAG	0.607													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18380	0.0		0.0	False		,,,				2504	0.0					ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(73-75)gCg>gTg		serine dehydratase-like	Pyridoxal Phosphate(DB00114)	C	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	55.0	47.0	49.0		74	3.5	0.9	12	dbSNP_134	49	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SDSL	NM_138432.2	64	0,7,6496	TT,TC,CC		0.0349,0.0908,0.0538	possibly-damaging	25/330	113865861	7,12999	2203	4300	6503	SO:0001583	missense	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113865861C>T	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.74C>T	12.37:g.113865861C>T	ENSP00000385790:p.Ala25Val					SDSL_ENST00000345635.4_Missense_Mutation_p.A25V	p.A25V			Q96GA7	SDSL_HUMAN			2	336	+			25						Missense_Mutation	SNP	ENST00000403593.4	37	c.74C>T	CCDS9170.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	10.74	1.435598	0.25813	9.08E-4	3.49E-4	ENSG00000139410	ENST00000403593;ENST00000345635;ENST00000547802	D;D	0.96856	-4.15;-4.15	4.42	3.51	0.40186	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.417432	0.25958	N	0.027206	D	0.88448	0.6439	L	0.47716	1.5	0.09310	N	1	P	0.44734	0.842	B	0.29716	0.106	T	0.82350	-0.0501	10	0.15952	T	0.53	-11.753	12.3343	0.55058	0.0:0.9142:0.0:0.0858	.	25	Q96GA7	SDSL_HUMAN	V	25	ENSP00000385790:A25V;ENSP00000341117:A25V	ENSP00000341117:A25V	A	+	2	0	SDSL	112350244	0.014000	0.17966	0.933000	0.37362	0.836000	0.47400	0.263000	0.18478	2.011000	0.59026	0.561000	0.74099	GCG		0.607	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		9	12	0	0	0	1	0	9	12				
PLXNB3	5365	broad.mit.edu	37	X	153042386	153042386	+	Silent	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153042386T>C	ENST00000361971.5	+	29	4992	c.4878T>C	c.(4876-4878)cgT>cgC	p.R1626R	PLXNB3_ENST00000538776.1_Silent_p.R1279R|PLXNB3_ENST00000538966.1_Silent_p.R1649R|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1626					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGCACCGTGGCAGCACCA	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(4945-4947)cgT>cgC		plexin B3							34.0	32.0	32.0					X																	153042386		2196	4292	6488	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153042386T>C	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4878T>C	X.37:g.153042386T>C						PLXNB3_ENST00000538776.1_Silent_p.R1279R|PLXNB3_ENST00000361971.5_Silent_p.R1626R|SRPK3_ENST00000489426.1_5'UTR	p.R1649R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			30	5218	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1626					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.4947T>C	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.821|0.821	-0.748678|-0.748678	0.03065|0.03065	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000411613|ENST00000455214	.|.	.|.	.|.	4.92|4.92	-9.84|-9.84	0.00479|0.00479	.|.	.|.	.|.	.|.	.|.	T|T	0.37865|0.37865	0.1019|0.1019	.|.	.|.	.|.	0.20563|0.20563	N|N	0.999884|0.999884	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45381|0.45381	-0.9265|-0.9265	4|4	.|.	.|.	.|.	.|.	15.0759|15.0759	0.72077|0.72077	0.0:0.1518:0.0829:0.7652|0.0:0.1518:0.0829:0.7652	.|.	.|.	.|.	.|.	A|R	250|130	.|.	.|.	V|W	+|+	2|1	0|0	PLXNB3|PLXNB3	152695580|152695580	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.632000|-1.632000	0.02024|0.02024	-2.618000|-2.618000	0.00441|0.00441	-1.125000|-1.125000	0.01998|0.01998	GTG|TGG		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			6	9	0	0	0	1	0	6	9				
SLC20A1	6574	broad.mit.edu	37	2	113404583	113404583	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113404583A>G	ENST00000272542.3	+	2	717	c.178A>G	c.(178-180)Aag>Gag	p.K60E	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	60					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGTGACCCTGAAGCAAGCCTG	0.507																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(178-180)Aag>Gag		solute carrier family 20 (phosphate transporter), member 1							109.0	102.0	104.0					2																	113404583		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113404583A>G		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.178A>G	2.37:g.113404583A>G	ENSP00000272542:p.Lys60Glu						p.K60E	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			2	717	+			60					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.178A>G	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443461	0.63067	.	.	ENSG00000144136	ENST00000272542	D	0.90676	-2.71	5.28	4.09	0.47781	.	0.052365	0.85682	D	0.000000	D	0.86879	0.6039	L	0.45581	1.43	0.39804	D	0.972606	B	0.23058	0.079	B	0.29440	0.102	D	0.85781	0.1361	10	0.72032	D	0.01	-1.2094	9.317	0.37941	0.6772:0.3228:0.0:0.0	.	60	Q8WUM9	S20A1_HUMAN	E	60	ENSP00000272542:K60E	ENSP00000272542:K60E	K	+	1	0	SLC20A1	113121054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.667000	0.46808	2.123000	0.65237	0.482000	0.46254	AAG		0.507	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		14	25	0	0	0	1	0	14	25				
ERICH3	127254	broad.mit.edu	37	1	75037454	75037454	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:75037454A>C	ENST00000326665.5	-	14	4158	c.3940T>G	c.(3940-3942)Tcg>Gcg	p.S1314A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1314	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCCTTCCGAGTTCCTGTCC	0.547																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3940-3942)Tcg>Gcg		chromosome 1 open reading frame 173							256.0	220.0	232.0					1																	75037454		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037454A>C																												ENST00000326665.5:c.3940T>G	1.37:g.75037454A>C	ENSP00000322609:p.Ser1314Ala					C1orf173_ENST00000433746.2_5'UTR	p.S1314A	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4158	-			1314			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3940T>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	0.142	-1.100591	0.01843	.	.	ENSG00000178965	ENST00000326665	T	0.12039	2.72	3.71	-7.42	0.01388	.	.	.	.	.	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44050	-0.9353	9	0.07813	T	0.8	.	3.4441	0.07474	0.102:0.1662:0.4206:0.3112	.	1314	Q5RHP9	CA173_HUMAN	A	1314	ENSP00000322609:S1314A	ENSP00000322609:S1314A	S	-	1	0	C1orf173	74810042	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.551000	0.00928	-1.849000	0.01171	-0.695000	0.03696	TCG		0.547	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			5	81	0	0	0	1	0	5	81				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	38	0	0	0	1	0	3	38				
RIF1	55183	broad.mit.edu	37	2	152320407	152320407	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:152320407T>G	ENST00000243326.5	+	29	4856	c.4373T>G	c.(4372-4374)aTa>aGa	p.I1458R	RIF1_ENST00000428287.2_Missense_Mutation_p.I1458R|RIF1_ENST00000430328.2_Missense_Mutation_p.I1458R|RIF1_ENST00000453091.2_Missense_Mutation_p.I1458R|RIF1_ENST00000444746.2_Missense_Mutation_p.I1458R			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCATTGCATATAAAAGATGAT	0.353																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4372-4374)aTa>aGa		RAP1 interacting factor homolog (yeast)							42.0	48.0	46.0					2																	152320407		2203	4294	6497	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320407T>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4373T>G	2.37:g.152320407T>G	ENSP00000243326:p.Ile1458Arg					RIF1_ENST00000428287.2_Missense_Mutation_p.I1458R|RIF1_ENST00000453091.2_Missense_Mutation_p.I1458R|RIF1_ENST00000430328.2_Missense_Mutation_p.I1458R|RIF1_ENST00000444746.2_Missense_Mutation_p.I1458R	p.I1458R			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	4856	+			1458					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.4373T>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	6.857	0.527358	0.13066	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.55	2.95	0.34219	.	0.937725	0.09011	N	0.861533	T	0.06050	0.0157	N	0.24115	0.695	0.09310	N	1	P;B	0.35923	0.528;0.355	B;B	0.26864	0.074;0.047	T	0.31833	-0.9929	10	0.12430	T	0.62	-1.9309	0.9402	0.01354	0.1505:0.1997:0.1568:0.4931	.	1458;1458	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	R	1458	ENSP00000390181:I1458R;ENSP00000414615:I1458R;ENSP00000415691:I1458R;ENSP00000243326:I1458R;ENSP00000416123:I1458R	ENSP00000243326:I1458R	I	+	2	0	RIF1	152028653	0.001000	0.12720	0.037000	0.18230	0.665000	0.39181	0.068000	0.14531	0.292000	0.22492	0.455000	0.32223	ATA		0.353	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			16	43	0	0	0	1	0	16	43				
PLA2R1	22925	broad.mit.edu	37	2	160806179	160806179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:160806179G>A	ENST00000283243.7	-	25	3855	c.3649C>T	c.(3649-3651)Cgc>Tgc	p.R1217C	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R1217C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1217	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTATGCCAGCGTCCGTTGCTG	0.448																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(3649-3651)Cgc>Tgc		phospholipase A2 receptor 1, 180kDa							77.0	74.0	75.0					2																	160806179		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160806179G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3649C>T	2.37:g.160806179G>A	ENSP00000283243:p.Arg1217Cys					PLA2R1_ENST00000392771.1_Missense_Mutation_p.R1217C	p.R1217C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			25	3855	-			1217			C-type lectin 7.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.3649C>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505010	0.64410	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.19532	2.14;2.14	5.8	3.91	0.45181	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.546439	0.19133	N	0.121898	T	0.40498	0.1119	M	0.82323	2.585	0.47123	D	0.999322	D;D;D	0.71674	0.997;0.998;0.998	P;P;P	0.60173	0.849;0.857;0.87	T	0.24941	-1.0146	10	0.38643	T	0.18	.	7.5596	0.27843	0.1424:0.1368:0.7207:0.0	.	1217;1217;1217	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	C	1217	ENSP00000283243:R1217C;ENSP00000376524:R1217C	ENSP00000283243:R1217C	R	-	1	0	PLA2R1	160514425	0.429000	0.25530	0.978000	0.43139	0.895000	0.52256	2.093000	0.41710	1.458000	0.47871	0.655000	0.94253	CGC		0.448	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			4	48	0	0	0	1	0	4	48				
EMR1	2015	broad.mit.edu	37	19	6928304	6928304	+	Intron	SNP	A	A	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:6928304A>G	ENST00000312053.4	+	17	2326				EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.T739A	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1						cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATTTCCAGGGACGTGTGCAGC	0.522																																						ENST00000381404.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(2215-2217)Acg>Gcg		egf-like module containing, mucin-like, hormone receptor-like 1																																				SO:0001627	intron_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6928304A>G	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2289+82A>G	19.37:g.6928304A>G						EMR1_ENST00000312053.4_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Intron	p.T739A	NM_001256252.1	NP_001243181.1	Q14246	EMR1_HUMAN			16	2245	+	all_hematologic(4;0.166)		763					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.2215A>G	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.959437	0.00465	.	.	ENSG00000174837	ENST00000381404	T	0.78364	-1.17	2.66	-1.07	0.09968	.	.	.	.	.	T	0.55433	0.1920	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	7	.	.	.	.	2.6254	0.04928	0.4203:0.2669:0.3129:0.0	.	739	E9PD45	.	A	739	ENSP00000370811:T739A	.	T	+	1	0	EMR1	6879304	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.220000	0.09215	-0.070000	0.12908	0.496000	0.49642	ACG		0.522	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			5	23	0	0	0	1	0	5	23				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	44	0	0	0	1	0	32	44				
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T	rs200953619		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:15323276A>T	ENST00000455308.2	-	0	572				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308																																						ENST00000455308.2																			0																																																			0							g.chr18:15323276A>T																													18.37:g.15323276A>T								NR_027417.1						0	572	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			4	27	0	0	0	1	0	4	27				
FKBP15	23307	broad.mit.edu	37	9	115935873	115935873	+	Nonsense_Mutation	SNP	G	G	A	rs187714009		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:115935873G>A	ENST00000238256.3	-	23	2509	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	798					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AGCTCAGCCTGTACTAAAGAC	0.512																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(2392-2394)Cag>Tag		FK506 binding protein 15, 133kDa							79.0	78.0	78.0					9																	115935873		1964	4161	6125	SO:0001587	stop_gained	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115935873G>A	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2392C>T	9.37:g.115935873G>A	ENSP00000238256:p.Gln798*						p.Q798*	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			23	2509	-			798					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Nonsense_Mutation	SNP	ENST00000238256.3	37	c.2392C>T	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	g	40	8.346286	0.98769	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-12.0268	14.9519	0.71080	0.0:0.0:1.0:0.0	.	.	.	.	X	823;798	.	ENSP00000238256:Q798X	Q	-	1	0	FKBP15	114975694	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	6.612000	0.74187	2.674000	0.91012	0.651000	0.88453	CAG		0.512	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		5	57	0	0	0	1	0	5	57				
DAGLA	747	broad.mit.edu	37	11	61511257	61511257	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:61511257C>T	ENST00000257215.5	+	20	2541	c.2425C>T	c.(2425-2427)Ctc>Ttc	p.L809F	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	809					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCCCCCAGCCTCCACGCTGT	0.642																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2425-2427)Ctc>Ttc		diacylglycerol lipase, alpha							75.0	85.0	82.0					11																	61511257		2038	4068	6106	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511257C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2425C>T	11.37:g.61511257C>T	ENSP00000257215:p.Leu809Phe						p.L809F	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2541	+			809					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2425C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983871	0.74474	.	.	ENSG00000134780	ENST00000257215	T	0.36520	1.25	3.11	3.11	0.35812	.	0.000000	0.64402	D	0.000001	T	0.44265	0.1285	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.54022	-0.8355	10	0.87932	D	0	-30.2978	15.476	0.75481	0.0:1.0:0.0:0.0	.	809	Q9Y4D2	DGLA_HUMAN	F	809	ENSP00000257215:L809F	ENSP00000257215:L809F	L	+	1	0	DAGLA	61267833	1.000000	0.71417	0.999000	0.59377	0.733000	0.41908	5.384000	0.66225	2.062000	0.61559	0.491000	0.48974	CTC		0.642	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		7	213	0	0	0	1	0	7	213				
IPO5	3843	broad.mit.edu	37	13	98655215	98655215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:98655215C>T	ENST00000490680.1	+	13	1486	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	IPO5_ENST00000261574.5_Missense_Mutation_p.P492L|IPO5_ENST00000539640.1_Missense_Mutation_p.P349L			O00410	IPO5_HUMAN	importin 5	474					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGACTGTCCCAAGTCACTA	0.453																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1474-1476)cCc>cTc		importin 5							137.0	127.0	131.0					13																	98655215		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98655215C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1421C>T	13.37:g.98655215C>T	ENSP00000418393:p.Pro474Leu					IPO5_ENST00000490680.1_Missense_Mutation_p.P474L|IPO5_ENST00000539640.1_Missense_Mutation_p.P349L	p.P492L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			16	1655	+			474					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1475C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.113833|5.113833	0.94339|0.94339	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|T	0.69435|0.68331	-0.4;-0.4;-0.4;-0.4|-0.32	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.80037|0.80037	0.4550|0.4550	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.85130|.	0.988;0.993;0.997|.	T|T	0.75297|0.75297	-0.3367|-0.3367	10|8	0.87932|0.21014	D|T	0|0.42	-8.7124|-8.7124	19.8775|19.8775	0.96884|0.96884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	349;474;492|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	L|S	492;474;474;349|476	ENSP00000261574:P492L;ENSP00000350219:P474L;ENSP00000418393:P474L;ENSP00000445126:P349L|ENSP00000419764:P476S	ENSP00000261574:P492L|ENSP00000419764:P476S	P|P	+|+	2|1	0|0	IPO5|IPO5	97453216|97453216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	7.752000|7.752000	0.85141|0.85141	2.688000|2.688000	0.91661|0.91661	0.563000|0.563000	0.77884|0.77884	CCC|CCA		0.453	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		36	66	0	0	0	1	0	36	66				
HNRNPUL2	221092	broad.mit.edu	37	11	62488868	62488868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62488868C>T	ENST00000301785.5	-	9	1702	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.D504N	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	504						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTTTGGGGTCCATCTCTGGC	0.428																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1510-1512)Gac>Aac		heterogeneous nuclear ribonucleoprotein U-like 2							149.0	154.0	152.0					11																	62488868		1849	4095	5944	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62488868C>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1510G>A	11.37:g.62488868C>T	ENSP00000301785:p.Asp504Asn					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.D504N	p.D504N	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			9	1702	-			504					Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1510G>A	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510195	0.64522	.	.	ENSG00000214753	ENST00000301785	T	0.42513	0.97	5.99	5.99	0.97316	Zeta toxin domain (1);	0.158080	0.56097	D	0.000037	T	0.35219	0.0924	L	0.33753	1.03	0.40816	D	0.983469	B	0.32245	0.361	B	0.36666	0.23	T	0.09079	-1.0691	10	0.07175	T	0.84	-26.4567	17.9715	0.89115	0.0:1.0:0.0:0.0	.	504	Q1KMD3	HNRL2_HUMAN	N	504	ENSP00000301785:D504N	ENSP00000301785:D504N	D	-	1	0	HNRNPUL2	62245444	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.570000	0.36439	2.840000	0.97914	0.655000	0.94253	GAC		0.428	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		9	160	0	0	0	1	0	9	160				
CALD1	800	broad.mit.edu	37	7	134618260	134618260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:134618260G>A	ENST00000361675.2	+	5	969	c.740G>A	c.(739-741)gGt>gAt	p.G247D	CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	247					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AGGGAACAAGGTTCAGATGAG	0.433																																						ENST00000361675.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(739-741)gGt>gAt		caldesmon 1							62.0	61.0	61.0					7																	134618260		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618260G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.740G>A	7.37:g.134618260G>A	ENSP00000354826:p.Gly247Asp					CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron	p.G247D			Q05682	CALD1_HUMAN			5	969	+			247					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.740G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	0.900	-0.722506	0.03182	.	.	ENSG00000122786	ENST00000361675	T	0.42513	0.97	4.32	0.833	0.18875	.	0.678460	0.12810	N	0.437222	T	0.24236	0.0587	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20806	-1.0264	9	.	.	.	0.0	4.6075	0.12385	0.4065:0.2995:0.294:0.0	.	247	Q05682	CALD1_HUMAN	D	247	ENSP00000354826:G247D	.	G	+	2	0	CALD1	134268800	0.020000	0.18652	0.000000	0.03702	0.832000	0.47134	0.177000	0.16801	-0.117000	0.11872	0.563000	0.77884	GGT		0.433	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		18	45	0	0	0	1	0	18	45				
TOR1A	1861	broad.mit.edu	37	9	132576357	132576357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:132576357C>T	ENST00000351698.4	-	5	941	c.893G>A	c.(892-894)aGc>aAc	p.S298N		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	298	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AGCCACTCTGCTTACAATGTC	0.418																																						ENST00000351698.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(892-894)aGc>aAc		torsin family 1, member A (torsin A)							211.0	200.0	204.0					9																	132576357		2203	4300	6503	SO:0001583	missense	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132576357C>T	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.893G>A	9.37:g.132576357C>T	ENSP00000345719:p.Ser298Asn						p.S298N	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			5	941	-		Ovarian(14;0.00556)	298					B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	c.893G>A	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	9.983	1.228596	0.22542	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.62941	-0.01	5.27	-3.13	0.05266	.	0.605348	0.19372	N	0.115870	T	0.34454	0.0898	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15263	-1.0443	10	0.22109	T	0.4	-1.2685	6.8322	0.23917	0.0697:0.3223:0.4466:0.1614	.	298	O14656	TOR1A_HUMAN	N	267;298	ENSP00000345719:S298N	ENSP00000345719:S298N	S	-	2	0	TOR1A	131616178	0.000000	0.05858	0.287000	0.24848	0.977000	0.68977	-0.257000	0.08745	-0.256000	0.09473	0.561000	0.74099	AGC		0.418	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		6	213	0	0	0	1	0	6	213				
TPRN	286262	broad.mit.edu	37	9	140093459	140093459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140093459C>T	ENST00000409012.4	-	1	1791	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.A508T	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	569					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GAGGAGCCAGCCTTGGTGAGG	0.627																																						ENST00000409012.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1705-1707)Gct>Act		taperin							64.0	60.0	61.0					9																	140093459		2203	4299	6502	SO:0001583	missense	286262				sensory perception of sound	stereocilium		g.chr9:140093459C>T	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1705G>A	9.37:g.140093459C>T	ENSP00000387100:p.Ala569Thr					TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.A508T	p.A569T	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			1	1791	-			569					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.1705G>A	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744017	0.30865	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.93	2.93	0.34026	.	0.149068	0.42964	D	0.000629	T	0.21347	0.0514	L	0.37897	1.145	0.28525	N	0.912888	B	0.33883	0.43	B	0.35859	0.212	T	0.10154	-1.0642	9	0.08179	T	0.78	-12.464	4.5921	0.12312	0.0:0.7343:0.0:0.2657	.	569	Q4KMQ1	TPRN_HUMAN	T	367;569;508	.	ENSP00000313704:A508T	A	-	1	0	TPRN	139213280	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	1.722000	0.38042	2.013000	0.59113	0.561000	0.74099	GCT		0.627	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		18	42	0	0	0	1	0	18	42				
IGLV1-40	28825	broad.mit.edu	37	22	22764387	22764387	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22764387G>A	ENST00000390299.2	+	0	180									immunoglobulin lambda variable 1-40																		CCTGCACTGGGAGCAGCTCCA	0.607																																						ENST00000390299.2																			0																				134.0	139.0	137.0					22																	22764387		1943	4136	6079			0							g.chr22:22764387G>A	M94116		22q11.2	2012-02-08			ENSG00000211653	ENSG00000211653		"""Immunoglobulins / IGL locus"""	5877	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151072		22.37:g.22764387G>A														0	180	+									RNA	SNP	ENST00000390299.2	37																																																																																						0.607	IGLV1-40-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321176.1	NG_000002		7	249	0	0	0	1	0	7	249				
IL20	50604	broad.mit.edu	37	1	207040737	207040737	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207040737C>T	ENST00000367098.1	+	5	750	c.387C>T	c.(385-387)caC>caT	p.H129H	IL20_ENST00000391930.2_Intron|IL20_ENST00000367096.3_Silent_p.H129H			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		AGCATGCCCACATGACATGCC	0.413																																						ENST00000367098.1																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9						c.(385-387)caC>caT		interleukin 20							153.0	145.0	148.0					1																	207040737		2203	4300	6503	SO:0001819	synonymous_variant	50604				positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	g.chr1:207040737C>T	AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.387C>T	1.37:g.207040737C>T						IL20_ENST00000367096.3_Silent_p.H129H|IL20_ENST00000391930.2_Intron	p.H129H			Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	5	750	+	Breast(84;0.201)		129					Q14CE5	Silent	SNP	ENST00000367098.1	37	c.387C>T	CCDS1470.1																																																																																				0.413	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724		30	57	0	0	0	1	0	30	57				
OR4C6	219432	broad.mit.edu	37	11	55433293	55433293	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:55433293G>A	ENST00000314259.3	+	1	680	c.651G>A	c.(649-651)acG>acA	p.T217T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T217T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CGTCCTACACGGTCATCCTAT	0.522																																						ENST00000314259.3																			1	Substitution - coding silent(1)	p.T217T(1)	lung(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(649-651)acG>acA		olfactory receptor, family 4, subfamily C, member 6							136.0	123.0	127.0					11																	55433293		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433293G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.651G>A	11.37:g.55433293G>A							p.T217T	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	680	+			217					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.651G>A	CCDS31506.1																																																																																				0.522	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		37	78	0	0	0	1	0	37	78				
NCOA6	23054	broad.mit.edu	37	20	33329246	33329246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33329246G>A	ENST00000374796.2	-	12	7384	c.4814C>T	c.(4813-4815)cCc>cTc	p.P1605L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1605L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1605					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGTTGTGATGGGATTGGAAGT	0.468																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(4813-4815)cCc>cTc		nuclear receptor coactivator 6							118.0	107.0	111.0					20																	33329246		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329246G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4814C>T	20.37:g.33329246G>A	ENSP00000363929:p.Pro1605Leu					NCOA6_ENST00000359003.2_Missense_Mutation_p.P1605L	p.P1605L			Q14686	NCOA6_HUMAN			12	7384	-			1605					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.4814C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472193	0.63737	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.56776	0.44;0.44	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.62648	0.2445	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.64595	0.927	T	0.63998	-0.6510	10	0.66056	D	0.02	-6.5066	19.7069	0.96076	0.0:0.0:1.0:0.0	.	1605	Q14686	NCOA6_HUMAN	L	1605	ENSP00000363929:P1605L;ENSP00000351894:P1605L	ENSP00000351894:P1605L	P	-	2	0	NCOA6	32792907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.763000	0.68818	2.894000	0.99253	0.591000	0.81541	CCC		0.468	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	94	0	0	0	1	0	8	94				
ITGA1	3672	broad.mit.edu	37	5	52218679	52218679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:52218679G>A	ENST00000282588.6	+	18	2823	c.2365G>A	c.(2365-2367)Gtt>Att	p.V789I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	789					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAATGGGCCTGTTCTTGATGA	0.343																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2365-2367)Gtt>Att		integrin, alpha 1							136.0	130.0	132.0					5																	52218679		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52218679G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2365G>A	5.37:g.52218679G>A	ENSP00000282588:p.Val789Ile						p.V789I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			18	2823	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	789					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.2365G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003572	0.54254	.	.	ENSG00000213949	ENST00000282588	T	0.42513	0.97	5.9	3.02	0.34903	Integrin alpha-2 (1);	0.263224	0.37178	N	0.002211	T	0.41558	0.1164	M	0.62723	1.935	0.45250	D	0.998251	P	0.39551	0.678	P	0.47075	0.536	T	0.41034	-0.9531	10	0.02654	T	1	.	9.4495	0.38717	0.2982:0.0:0.7018:0.0	.	789	P56199	ITA1_HUMAN	I	789	ENSP00000282588:V789I	ENSP00000282588:V789I	V	+	1	0	ITGA1	52254436	1.000000	0.71417	0.402000	0.26371	0.995000	0.86356	3.216000	0.51176	0.331000	0.23511	0.455000	0.32223	GTT		0.343	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		7	97	0	0	0	1	0	7	97				
ACTRT1	139741	broad.mit.edu	37	X	127185385	127185385	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:127185385C>T	ENST00000371124.3	-	1	997	c.801G>A	c.(799-801)caG>caA	p.Q267Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	267						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGATGCCCAGCTGGTCAGGTG	0.507																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(799-801)caG>caA		actin-related protein T1							110.0	104.0	106.0					X																	127185385		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185385C>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.801G>A	X.37:g.127185385C>T							p.Q267Q	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	997	-			267					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.801G>A	CCDS14611.1																																																																																				0.507	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		21	202	0	0	0	1	0	21	202				
EIF3K	27335	broad.mit.edu	37	19	39125632	39125632	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39125632G>A	ENST00000538434.1	+	6	473		c.e6-1		EIF3K_ENST00000248342.4_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000545173.2_Splice_Site					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTCACCTGCAGACAGCCAGCT	0.567											OREG0025450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000545173.2																		EIF3K/CYP39A1(2)	0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.e7-1		eukaryotic translation initiation factor 3, subunit K							72.0	62.0	66.0					19																	39125632		2203	4300	6503	SO:0001630	splice_region_variant	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39125632G>A	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.239-1G>A	19.37:g.39125632G>A			OREG0025450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	883	EIF3K_ENST00000538434.1_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000248342.4_Splice_Site				Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	575	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)								Splice_Site	SNP	ENST00000538434.1	37			.	.	.	.	.	.	.	.	.	.	G	20.9	4.063130	0.76187	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3591	0.83246	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3K	43817472	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.266000	0.95659	2.668000	0.90789	0.549000	0.68633	.		0.567	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453409.1	NM_013234	Intron	5	38	0	0	0	1	0	5	38				
TSGA10	80705	broad.mit.edu	37	2	99767151	99767151	+	Intron	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:99767151A>G	ENST00000393483.3	-	1	225				C2ORF15_ENST00000302513.2_Missense_Mutation_p.T78A|C2ORF15_ENST00000409684.1_Missense_Mutation_p.T78A	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATTTCAAAACACCAAGAAAAT	0.398																																						ENST00000302513.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(232-234)Acc>Gcc		chromosome 2 open reading frame 15							75.0	76.0	76.0					2																	99767151		2203	4300	6503	SO:0001627	intron_variant	150590							g.chr2:99767151A>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+4004T>C	2.37:g.99767151A>G						TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Missense_Mutation_p.T78A	p.T78A	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN			4	868	+			78					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.232A>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.946775	0.53186	.	.	ENSG00000241962	ENST00000302513;ENST00000409684	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	T	0.36799	0.0980	N	0.08118	0	0.80722	D	1	P	0.49961	0.93	P	0.50314	0.637	T	0.41161	-0.9524	8	0.87932	D	0	0.055	10.8109	0.46547	1.0:0.0:0.0:0.0	.	78	Q8WU43	CB015_HUMAN	A	78	.	ENSP00000302202:T78A	T	+	1	0	C2orf15	99133583	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.032000	0.57274	2.036000	0.60181	0.379000	0.24179	ACC		0.398	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		22	43	0	0	0	1	0	22	43				
AEN	64782	broad.mit.edu	37	15	89172513	89172513	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:89172513C>T	ENST00000332810.3	+	3	748	c.597C>T	c.(595-597)ttC>ttT	p.F199F	AEN_ENST00000379231.3_Silent_p.F199F	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	199	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						ACAACGACTTCCAGGCGCTCA	0.627																																						ENST00000332810.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(595-597)ttC>ttT		apoptosis enhancing nuclease							105.0	102.0	103.0					15																	89172513		2200	4299	6499	SO:0001819	synonymous_variant	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89172513C>T	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.597C>T	15.37:g.89172513C>T						AEN_ENST00000379231.3_Silent_p.F199F	p.F199F	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN			3	748	+			199			Exonuclease.		C9J571|Q9BSA5|Q9H9X7	Silent	SNP	ENST00000332810.3	37	c.597C>T	CCDS10344.1																																																																																				0.627	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		38	72	0	0	0	1	0	38	72				
SLC9A4	389015	broad.mit.edu	37	2	103130692	103130692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:103130692C>T	ENST00000295269.4	+	8	2160	c.1703C>T	c.(1702-1704)gCt>gTt	p.A568V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	568					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						agctctacagctttctccata	0.428																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1702-1704)gCt>gTt		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							147.0	140.0	143.0					2																	103130692		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103130692C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1703C>T	2.37:g.103130692C>T	ENSP00000295269:p.Ala568Val						p.A568V	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			8	2160	+			568					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1703C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606277	0.46527	.	.	ENSG00000180251	ENST00000295269	T	0.42513	0.97	5.59	5.59	0.84812	.	0.113891	0.64402	D	0.000010	T	0.39809	0.1092	L	0.46157	1.445	0.35967	D	0.835016	B	0.02656	0.0	B	0.04013	0.001	T	0.36578	-0.9742	10	0.33141	T	0.24	.	17.7571	0.88452	0.0:1.0:0.0:0.0	.	568	Q6AI14	SL9A4_HUMAN	V	568	ENSP00000295269:A568V	ENSP00000295269:A568V	A	+	2	0	SLC9A4	102497124	0.001000	0.12720	0.299000	0.25016	0.946000	0.59487	1.537000	0.36083	2.617000	0.88574	0.585000	0.79938	GCT		0.428	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		6	92	0	0	0	1	0	6	92				
SULF2	55959	broad.mit.edu	37	20	46305860	46305860	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:46305860C>T	ENST00000359930.4	-	9	2063	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Silent_p.K404K|SULF2_ENST00000467815.1_Silent_p.K404K|SULF2_ENST00000361612.4_Silent_p.K404K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	404					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 fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGACCCTCATCTTCTTTTTCA	0.617																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1210-1212)aaG>aaA		sulfatase 2							72.0	77.0	76.0					20																	46305860		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46305860C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1212G>A	20.37:g.46305860C>T						SULF2_ENST00000467815.1_Silent_p.K404K|SULF2_ENST00000361612.4_Silent_p.K404K|SULF2_ENST00000484875.1_Silent_p.K404K	p.K404K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			9	2063	-			404					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.1212G>A	CCDS13408.1																																																																																				0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		22	45	0	0	0	1	0	22	45				
PAPSS2	9060	broad.mit.edu	37	10	89473905	89473905	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:89473905C>T	ENST00000361175.4	+	4	855	c.486C>T	c.(484-486)ggC>ggT	p.G162G	PAPSS2_ENST00000427144.2_Silent_p.G166G|PAPSS2_ENST00000456849.1_Silent_p.G162G	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	162					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ACGTAAAAGGCCTCTATAAAA	0.433																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(484-486)ggC>ggT		3'-phosphoadenosine 5'-phosphosulfate synthase 2							99.0	107.0	104.0					10																	89473905		2203	4300	6503	SO:0001819	synonymous_variant	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89473905C>T	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.486C>T	10.37:g.89473905C>T						PAPSS2_ENST00000427144.2_Silent_p.G166G|PAPSS2_ENST00000456849.1_Silent_p.G162G	p.G162G	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	4	855	+		Melanoma(5;0.019)|Colorectal(252;0.123)	162					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	ENST00000361175.4	37	c.486C>T	CCDS7385.1																																																																																				0.433	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			7	107	0	0	0	1	0	7	107				
ZNF436	80818	broad.mit.edu	37	1	23688700	23688700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:23688700C>T	ENST00000314011.4	-	4	1311	c.1175G>A	c.(1174-1176)tGt>tAt	p.C392Y	ZNF436_ENST00000374608.3_Missense_Mutation_p.C392Y	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACACTCATTACACTCATAAGG	0.468																																						ENST00000314011.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1174-1176)tGt>tAt		zinc finger protein 436							91.0	93.0	92.0					1																	23688700		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688700C>T	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.1175G>A	1.37:g.23688700C>T	ENSP00000313582:p.Cys392Tyr					ZNF436_ENST00000374609.1_Intron|ZNF436_ENST00000374608.3_Missense_Mutation_p.C392Y	p.C392Y	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1311	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	392					Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.1175G>A	CCDS233.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937467	0.73557	.	.	ENSG00000125945	ENST00000314011;ENST00000374608	D;D	0.85088	-1.94;-1.94	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000004	D	0.93275	0.7857	M	0.84433	2.695	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.93653	0.6975	10	0.87932	D	0	-23.8031	17.8477	0.88736	0.0:1.0:0.0:0.0	.	392	Q9C0F3	ZN436_HUMAN	Y	392	ENSP00000313582:C392Y;ENSP00000363736:C392Y	ENSP00000313582:C392Y	C	-	2	0	ZNF436	23561287	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGT		0.468	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		15	95	0	0	0	1	0	15	95				
CPB2	1361	broad.mit.edu	37	13	46656610	46656610	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:46656610G>A	ENST00000181383.4	-	4	366	c.350C>T	c.(349-351)gCa>gTa	p.A117V	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.A117V|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	117					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATAGTACGATGCGGAGGCTCG	0.438																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(349-351)gCa>gTa		carboxypeptidase B2 (plasma)							174.0	157.0	163.0					13																	46656610		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46656610G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.350C>T	13.37:g.46656610G>A	ENSP00000181383:p.Ala117Val					CPB2_ENST00000439329.3_Missense_Mutation_p.A117V|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	p.A117V	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	4	366	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	117					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.350C>T	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630706	0.28978	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.14766	2.78;2.48	5.65	4.81	0.61882	.	0.761103	0.12837	N	0.435171	T	0.08403	0.0209	N	0.14661	0.345	0.09310	N	1	B;P	0.37061	0.328;0.58	B;B	0.30495	0.116;0.025	T	0.23797	-1.0178	10	0.36615	T	0.2	.	12.3739	0.55269	0.0819:0.0:0.9181:0.0	.	117;117	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	V	117	ENSP00000181383:A117V;ENSP00000400714:A117V	ENSP00000181383:A117V	A	-	2	0	CPB2	45554611	0.095000	0.21747	0.008000	0.14137	0.120000	0.20174	2.159000	0.42339	1.392000	0.46585	0.655000	0.94253	GCA		0.438	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		6	30	0	0	0	1	0	6	30				
RBM15B	29890	broad.mit.edu	37	3	51431431	51431431	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51431431G>A	ENST00000323686.4	+	1	2701	c.2601G>A	c.(2599-2601)caG>caA	p.Q867Q		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	867	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				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)			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)		AGTACCTCCAGTCAGCACTAA	0.567																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(2599-2601)caG>caA		RNA binding motif protein 15B							110.0	106.0	108.0					3																	51431431		2203	4300	6503	SO:0001819	synonymous_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51431431G>A	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.2601G>A	3.37:g.51431431G>A							p.Q867Q	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2701	+			867			Interaction with Epstein-Barr virus BMLF1.|SPOC.		A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	c.2601G>A	CCDS33764.1																																																																																				0.567	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		46	79	0	0	0	1	0	46	79				
TRIB2	28951	broad.mit.edu	37	2	12858544	12858544	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:12858544G>A	ENST00000405331.3	+	1	181	c.111G>A	c.(109-111)caG>caA	p.Q37Q	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000155926.4_Silent_p.Q37Q|RP11-333O1.1_ENST00000569860.1_lincRNA					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCCCAGCCAGAGTTTCAGCC	0.542											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(109-111)caG>caA		tribbles pseudokinase 2							76.0	86.0	83.0					2																	12858544		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12858544G>A	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.111G>A	2.37:g.12858544G>A			OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	TRIB2_ENST00000405331.3_Silent_p.Q37Q|TRIB2_ENST00000381465.2_Intron	p.Q37Q	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			1	1530	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		37						Silent	SNP	ENST00000405331.3	37	c.111G>A																																																																																					0.542	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		27	75	0	0	0	1	0	27	75				
EPRS	2058	broad.mit.edu	37	1	220162000	220162000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:220162000C>T	ENST00000366923.3	-	19	2976	c.2707G>A	c.(2707-2709)Gta>Ata	p.V903I	snoU13_ENST00000459217.1_RNA	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	903	3 X 57 AA approximate repeats.|WHEP-TRS 3.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TCAAAAAGTACTTTCGCTTCT	0.403																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(2707-2709)Gta>Ata		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						88.0	94.0	92.0					1																	220162000		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220162000C>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2707G>A	1.37:g.220162000C>T	ENSP00000355890:p.Val903Ile						p.V903I	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	19	2976	-			903			3 X 57 AA approximate repeats.|WHEP-TRS 3.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.2707G>A	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	7.855	0.724775	0.15439	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.06449	3.3	5.74	0.496	0.16896	WHEP-TRS (1);S15/NS1, RNA-binding (2);	0.927042	0.09081	N	0.851268	T	0.06050	0.0157	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14012	0.0;0.0;0.009	B;B;B	0.14023	0.001;0.001;0.01	T	0.40942	-0.9536	10	0.41790	T	0.15	8.0E-4	7.5637	0.27866	0.194:0.5376:0.2107:0.0577	.	927;910;903	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	I	903;910;927	ENSP00000355890:V903I	ENSP00000355890:V903I	V	-	1	0	EPRS	218228623	0.007000	0.16637	0.032000	0.17829	0.347000	0.29111	1.168000	0.31859	-0.157000	0.11059	-1.621000	0.00791	GTA		0.403	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		4	64	0	0	0	1	0	4	64				
CLN5	1203	broad.mit.edu	37	13	77574738	77574738	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:77574738G>A	ENST00000377453.3	+	4	2150	c.858G>A	c.(856-858)agG>agA	p.R286R	FBXL3_ENST00000477982.1_5'Flank	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	237					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGTGTTAAGGACCTTTAACA	0.383																																						ENST00000377453.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.(856-858)agG>agA		ceroid-lipofuscinosis, neuronal 5							96.0	97.0	97.0					13																	77574738		2203	4300	6503	SO:0001819	synonymous_variant	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77574738G>A		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.858G>A	13.37:g.77574738G>A							p.R286R	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	4	2150	+		Acute lymphoblastic leukemia(28;0.205)	237					B3KQK7	Silent	SNP	ENST00000377453.3	37	c.858G>A	CCDS9456.1																																																																																				0.383	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		10	67	0	0	0	1	0	10	67				
MTOR	2475	broad.mit.edu	37	1	11293482	11293482	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11293482G>A	ENST00000361445.4	-	15	2470	c.2394C>T	c.(2392-2394)gtC>gtT	p.V798V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	798					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTGTTGCCAGGACATTATTGA	0.398																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(2392-2394)gtC>gtT		mechanistic target of rapamycin (serine/threonine kinase)							113.0	104.0	107.0					1																	11293482		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11293482G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2394C>T	1.37:g.11293482G>A							p.V798V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			15	2470	-			798					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.2394C>T	CCDS127.1																																																																																				0.398	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		38	62	0	0	0	1	0	38	62				
INTS9	55756	broad.mit.edu	37	8	28695157	28695157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:28695157C>T	ENST00000521022.1	-	5	479	c.398G>A	c.(397-399)gGc>gAc	p.G133D	INTS9_ENST00000416984.2_Missense_Mutation_p.G112D|INTS9_ENST00000397363.4_Missense_Mutation_p.G27D|INTS9_ENST00000521777.1_Missense_Mutation_p.G109D	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	133					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CTCTCACCTGCCGATCTGGAC	0.542																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(334-336)gGc>gAc		integrator complex subunit 9							106.0	76.0	86.0					8																	28695157		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28695157C>T	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.398G>A	8.37:g.28695157C>T	ENSP00000429065:p.Gly133Asp					INTS9_ENST00000521022.1_Missense_Mutation_p.G133D|INTS9_ENST00000397363.4_Missense_Mutation_p.G27D|INTS9_ENST00000521777.1_Missense_Mutation_p.G109D	p.G112D	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	4	694	-		Ovarian(32;0.0439)	133					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.335G>A	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484439	0.84854	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000521777;ENST00000397363;ENST00000523436	T;T;T;T;T	0.54866	0.56;0.55;0.56;0.55;0.68	5.3	5.3	0.74995	.	0.111367	0.64402	D	0.000008	T	0.75228	0.3821	M	0.83603	2.65	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.998	D;D;D	0.79108	0.977;0.992;0.983	T	0.74472	-0.3654	10	0.38643	T	0.18	.	19.1434	0.93455	0.0:1.0:0.0:0.0	.	112;133;133	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	D	133;112;109;27;133	ENSP00000429065:G133D;ENSP00000398208:G112D;ENSP00000430943:G109D;ENSP00000380520:G27D;ENSP00000427789:G133D	ENSP00000380520:G27D	G	-	2	0	INTS9	28751076	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.320000	0.79064	2.756000	0.94617	0.563000	0.77884	GGC		0.542	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		8	24	0	0	0	1	0	8	24				
SERPINA5	5104	broad.mit.edu	37	14	95053744	95053744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:95053744G>T	ENST00000554866.1	+	2	159	c.45G>T	c.(43-45)caG>caT	p.Q15H	SERPINA5_ENST00000329597.7_Missense_Mutation_p.Q15H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.Q15H|SERPINA5_ENST00000554276.1_Missense_Mutation_p.Q15H			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	15					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCAGCCCTCAGGGGGCCTCCC	0.597																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(43-45)caG>caT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						67.0	74.0	71.0					14																	95053744		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95053744G>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.45G>T	14.37:g.95053744G>T	ENSP00000451126:p.Gln15His					SERPINA5_ENST00000554276.1_Missense_Mutation_p.Q15H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.Q15H|SERPINA5_ENST00000554866.1_Missense_Mutation_p.Q15H	p.Q15H	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	255	+			15					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.45G>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992445	0.35131	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554506;ENST00000554633;ENST00000555681;ENST00000438291;ENST00000554276;ENST00000557598;ENST00000556064	D;D;D;D;D;T;T;T;T;D;T	0.87650	-1.65;-1.65;-2.28;-1.65;-1.65;-0.85;-0.85;-0.85;-0.85;-1.65;-0.85	4.95	4.05	0.47172	Serpin domain (1);	3.284340	0.01879	N	0.037729	T	0.76321	0.3971	N	0.08118	0	0.09310	N	1	B;P	0.44478	0.012;0.836	B;B	0.43360	0.024;0.417	T	0.70619	-0.4822	10	0.12766	T	0.61	.	4.3015	0.10927	0.0858:0.1572:0.594:0.163	.	15;15	G3V5Q9;P05154	.;IPSP_HUMAN	H	15	ENSP00000450484:Q15H;ENSP00000450837:Q15H;ENSP00000452469:Q15H;ENSP00000451126:Q15H;ENSP00000333203:Q15H;ENSP00000450745:Q15H;ENSP00000451215:Q15H;ENSP00000451697:Q15H;ENSP00000451650:Q15H;ENSP00000451610:Q15H;ENSP00000450485:Q15H	ENSP00000333203:Q15H	Q	+	3	2	SERPINA5	94123497	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.264000	0.08658	1.210000	0.43336	0.561000	0.74099	CAG		0.597	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		18	26	1	0	6.49762e-13	1	6.52731e-13	18	26				
CDKN2AIP	55602	broad.mit.edu	37	4	184366756	184366756	+	Missense_Mutation	SNP	C	C	T	rs551218956		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:184366756C>T	ENST00000504169.1	+	2	548	c.341C>T	c.(340-342)aCc>aTc	p.T114I	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.T114I|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.T114I	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	114					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GATGCTCCAACCTATACAACA	0.363																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(340-342)aCc>aTc		CDKN2A interacting protein							115.0	104.0	108.0					4																	184366756		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184366756C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.341C>T	4.37:g.184366756C>T	ENSP00000427108:p.Thr114Ile					CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.T114I|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.T114I	p.T114I	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	548	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	114					Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.341C>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	9.332	1.060754	0.19987	.	.	ENSG00000168564	ENST00000504169;ENST00000302350;ENST00000510928	.	.	.	6.11	4.94	0.65067	.	0.241743	0.35615	N	0.003093	T	0.15869	0.0382	N	0.04018	-0.295	0.28345	N	0.921166	B	0.02656	0.0	B	0.04013	0.001	T	0.16630	-1.0396	9	0.20046	T	0.44	-5.5043	8.0079	0.30336	0.0:0.2196:0.0:0.7804	.	114	Q9NXV6	CARF_HUMAN	I	114	.	ENSP00000303788:T114I	T	+	2	0	CDKN2AIP	184603750	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.987000	0.29603	1.141000	0.42275	-0.302000	0.09304	ACC		0.363	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		6	38	0	0	0	1	0	6	38				
PCDHAC2	56134	broad.mit.edu	37	5	140347759	140347759	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140347759C>T	ENST00000289269.5	+	1	1940	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAGCTTCCTGGAGGACTC	0.498																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1408-1410)Ctg>Ttg									151.0	152.0	151.0					5																	140347759		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347759C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1408C>T	5.37:g.140347759C>T						PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.L470L	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1940	+			470			Cadherin 5.		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.1408C>T	CCDS4242.1																																																																																				0.498	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		4	178	0	0	0	1	0	4	178				
AKAP11	11215	broad.mit.edu	37	13	42872708	42872708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:42872708C>T	ENST00000025301.2	+	7	566	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	131					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAGAGTGTCACCTACATCACC	0.338																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(391-393)Cct>Tct		A kinase (PRKA) anchor protein 11							126.0	118.0	121.0					13																	42872708		2203	4298	6501	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42872708C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.391C>T	13.37:g.42872708C>T	ENSP00000025301:p.Pro131Ser						p.P131S	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	7	566	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	131					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.391C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.245127	0.39697	.	.	ENSG00000023516	ENST00000025301	T	0.16196	2.36	6.07	4.27	0.50696	.	0.058726	0.64402	D	0.000001	T	0.20941	0.0504	M	0.63843	1.955	0.41778	D	0.989804	B	0.13145	0.007	B	0.15870	0.014	T	0.04495	-1.0947	10	0.59425	D	0.04	.	14.053	0.64749	0.0:0.8182:0.1171:0.0647	.	131	Q9UKA4	AKA11_HUMAN	S	131	ENSP00000025301:P131S	ENSP00000025301:P131S	P	+	1	0	AKAP11	41770708	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	1.505000	0.35736	1.582000	0.49881	0.655000	0.94253	CCT		0.338	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		36	20	0	0	0	1	0	36	20				
LGR4	55366	broad.mit.edu	37	11	27390486	27390486	+	Missense_Mutation	SNP	G	G	A	rs369900849		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:27390486G>A	ENST00000379214.4	-	18	2227	c.1784C>T	c.(1783-1785)aCt>aTt	p.T595I	LGR4_ENST00000389858.4_Missense_Mutation_p.T571I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	595					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATCAAGAAAAGTTAGGATGCC	0.433																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1783-1785)aCt>aTt		leucine-rich repeat containing G protein-coupled receptor 4		G	ILE/THR	0,4404		0,0,2202	85.0	89.0	87.0		1784	5.0	1.0	11		87	2,8596	2.2+/-6.3	0,2,4297	no	missense	LGR4	NM_018490.2	89	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	595/952	27390486	2,13000	2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390486G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1784C>T	11.37:g.27390486G>A	ENSP00000368516:p.Thr595Ile					LGR4_ENST00000389858.4_Missense_Mutation_p.T571I	p.T595I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2227	-			595					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.1784C>T	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854803	0.71719	0.0	2.33E-4	ENSG00000205213	ENST00000379214;ENST00000389858	D;D	0.85702	-2.02;-2.02	5.95	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89494	0.6731	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.948;0.999	D	0.90788	0.4684	10	0.87932	D	0	.	17.0323	0.86464	0.0:0.1272:0.8728:0.0	.	571;595	G5E9B3;Q9BXB1	.;LGR4_HUMAN	I	595;571	ENSP00000368516:T595I;ENSP00000374508:T571I	ENSP00000368516:T595I	T	-	2	0	LGR4	27347062	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.662000	0.74426	1.488000	0.48433	0.650000	0.86243	ACT		0.433	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		16	30	0	0	0	1	0	16	30				
C8orf58	541565	broad.mit.edu	37	8	22458663	22458663	+	Silent	SNP	C	C	T	rs374640891		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:22458663C>T	ENST00000289989.5	+	2	383	c.309C>T	c.(307-309)gcC>gcT	p.A103A	C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000409586.3_Silent_p.A103A			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	103										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGCCCCCCGCCCAGGTAGGCC	0.657																																						ENST00000409586.3																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(307-309)gcC>gcT		chromosome 8 open reading frame 58			,,	0,4356		0,0,2178	12.0	16.0	15.0		309,309,309	-0.4	0.0	8		15	1,8587		0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	C8orf58	NM_001013842.2,NM_001198827.1,NM_173686.2	,,	0,1,6471	TT,TC,CC		0.0116,0.0,0.0077	,,	103/366,103/301,103/358	22458663	1,12943	2178	4294	6472	SO:0001819	synonymous_variant	541565							g.chr8:22458663C>T	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.309C>T	8.37:g.22458663C>T						C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000289989.5_Silent_p.A103A	p.A103A	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	429	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	103					B4DI44	Silent	SNP	ENST00000289989.5	37	c.309C>T	CCDS34862.1																																																																																				0.657	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842		5	14	0	0	0	1	0	5	14				
PHF21A	51317	broad.mit.edu	37	11	46001326	46001326	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:46001326G>A	ENST00000418153.2	-	6	544	c.345C>T	c.(343-345)aaC>aaT	p.N115N	PHF21A_ENST00000257821.4_Silent_p.N115N|PHF21A_ENST00000323180.6_Silent_p.N115N			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	115					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AAGCAGTCAGGTTGGGAGAGg	0.498																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(343-345)aaC>aaT		PHD finger protein 21A							218.0	177.0	191.0					11																	46001326		2202	4299	6501	SO:0001819	synonymous_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46001326G>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.345C>T	11.37:g.46001326G>A						PHF21A_ENST00000323180.6_Silent_p.N115N|PHF21A_ENST00000418153.2_Silent_p.N115N	p.N115N	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			6	968	-			115					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	c.345C>T	CCDS44578.1																																																																																				0.498	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		21	40	0	0	0	1	0	21	40				
PLIN1	5346	broad.mit.edu	37	15	90210347	90210347	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:90210347G>A	ENST00000300055.5	-	8	1194	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	PLIN1_ENST00000430628.2_Silent_p.L343L	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	343					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TGGTGGTCTGGAGGGTCTTCT	0.652																																						ENST00000300055.5																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						c.(1027-1029)ctC>ctT		perilipin 1							96.0	86.0	89.0					15																	90210347		2200	4299	6499	SO:0001819	synonymous_variant	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90210347G>A	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.1029C>T	15.37:g.90210347G>A						PLIN1_ENST00000430628.2_Silent_p.L343L	p.L343L	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN			8	1194	-			343					Q8N5Y6	Silent	SNP	ENST00000300055.5	37	c.1029C>T	CCDS10353.1																																																																																				0.652	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		5	65	0	0	0	1	0	5	65				
ADRB2	154	broad.mit.edu	37	5	148207534	148207534	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:148207534C>T	ENST00000305988.4	+	1	1379	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	380					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	TGTGTGAAGACCTCCCAGGCA	0.488																																						ENST00000305988.4																			0				endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(1138-1140)gaC>gaT		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						80.0	85.0	83.0					5																	148207534		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207534C>T	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.1140C>T	5.37:g.148207534C>T							p.D380D	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1379	+			380					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.1140C>T	CCDS4292.1																																																																																				0.488	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		17	37	0	0	0	1	0	17	37				
CSTF1	1477	broad.mit.edu	37	20	54978524	54978524	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:54978524G>A	ENST00000217109.4	+	6	1389	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	346					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TCTGTGGCAGGCGCGGGTTTA	0.507																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.e6-1		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							77.0	74.0	75.0					20																	54978524		2203	4300	6503	SO:0001630	splice_region_variant	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54978524G>A		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1037-1G>A	20.37:g.54978524G>A						CSTF1_ENST00000493039.1_3'UTR	p.G346_splice	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		6	1389	+			346					Q5QPD8	Splice_Site	SNP	ENST00000217109.4	37	c.1036_splice	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902439	0.72754	.	.	ENSG00000101138	ENST00000217109;ENST00000425890	D	0.84873	-1.91	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.92789	0.6247	9	.	.	.	.	19.7157	0.96119	0.0:0.0:1.0:0.0	.	346	Q05048	CSTF1_HUMAN	D	346;333	ENSP00000217109:G346D	.	G	+	2	0	CSTF1	54411931	1.000000	0.71417	0.960000	0.40013	0.193000	0.23685	9.483000	0.97937	2.723000	0.93209	0.650000	0.86243	GGC		0.507	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521	Missense_Mutation	18	37	0	0	0	1	0	18	37				
IRF2BP2	359948	broad.mit.edu	37	1	234743130	234743130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:234743130C>T	ENST00000366609.3	-	2	1547	c.1517G>A	c.(1516-1518)tGc>tAc	p.C506Y	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.C490Y|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	506	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCAGAGGGTGCAGCACAGCGG	0.637																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1516-1518)tGc>tAc		interferon regulatory factor 2 binding protein 2							62.0	66.0	65.0					1																	234743130		2203	4300	6503	SO:0001583	missense	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743130C>T	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1517G>A	1.37:g.234743130C>T	ENSP00000355568:p.Cys506Tyr					RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.C490Y	p.C506Y	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1547	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	506			Cys-rich.		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	c.1517G>A	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482760	0.84747	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;D	0.81908	-1.47;-1.55	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92000	0.5610	10	0.87932	D	0	-8.4171	19.8842	0.96908	0.0:1.0:0.0:0.0	.	506;490	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	Y	490;506	ENSP00000355569:C490Y;ENSP00000355568:C506Y	ENSP00000355568:C506Y	C	-	2	0	IRF2BP2	232809753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.713000	0.92767	0.650000	0.86243	TGC		0.637	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		31	23	0	0	0	1	0	31	23				
ANAPC11	51529	broad.mit.edu	37	17	79857235	79857235	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:79857235G>A	ENST00000575195.2	+	2	289				NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000357385.3_Missense_Mutation_p.G76E|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000579978.1_Intron|NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000579133.1_Intron			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCAACGCCTGGGCAGCACACC	0.602																																						ENST00000357385.3																			0				kidney(1)|lung(1)	2						c.(226-228)gGg>gAg		anaphase promoting complex subunit 11							80.0	69.0	73.0					17																	79857235		2203	4299	6502	SO:0001627	intron_variant	51529				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	g.chr17:79857235G>A	AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"""Anaphase promoting complex subunits"""	14452	protein-coding gene	gene with protein product		614534	"""anaphase promoting complex subunit 11 (yeast APC11 homolog)"""			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.110-561G>A	17.37:g.79857235G>A						ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000578544.1_Intron	p.G76E	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	363	+	all_neural(118;0.0878)|Ovarian(332;0.12)		0					A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Missense_Mutation	SNP	ENST00000575195.2	37	c.227G>A	CCDS11789.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572570	0.28092	.	.	ENSG00000141552	ENST00000357385	.	.	.	1.27	-2.1	0.07210	.	.	.	.	.	T	0.14013	0.0339	.	.	.	0.09310	N	1	B	0.22604	0.072	B	0.12156	0.007	T	0.29088	-1.0023	7	0.10902	T	0.67	.	3.2568	0.06835	0.0:0.2336:0.4221:0.3443	.	76	Q9NYG5-2	.	E	76	.	ENSP00000349957:G76E	G	+	2	0	ANAPC11	77450527	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.642000	0.02006	-0.558000	0.06118	0.462000	0.41574	GGG		0.602	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2	NM_016476		14	33	0	0	0	1	0	14	33				
COPG1	22820	broad.mit.edu	37	3	128976393	128976393	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:128976393G>A	ENST00000314797.6	+	9	764	c.660G>A	c.(658-660)cgG>cgA	p.R220R		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	220					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.R220R(1)									AGGTCACACGGCATGGCCTTA	0.542																																						ENST00000314797.6																			1	Substitution - coding silent(1)	p.R220R(1)	lung(1)								c.(658-660)cgG>cgA		coatomer protein complex, subunit gamma 1							195.0	185.0	189.0					3																	128976393		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128976393G>A	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.660G>A	3.37:g.128976393G>A							p.R220R	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			9	764	+			220					A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.660G>A	CCDS33851.1																																																																																				0.542	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		4	164	0	0	0	1	0	4	164				
DCLRE1C	64421	broad.mit.edu	37	10	14977484	14977484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:14977484C>T	ENST00000378278.2	-	6	479	c.442G>A	c.(442-444)Gag>Aag	p.E148K	DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E28K|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E28K|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.E28K|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E33K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E28K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E28K|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E33K|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E148K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E33K			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	148					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)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TGCAGAAGCTCCATTCTAGCA	0.428								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(82-84)Gag>Aag	Non-homologous end-joining	DNA cross-link repair 1C							108.0	116.0	113.0					10																	14977484		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14977484C>T	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.442G>A	10.37:g.14977484C>T	ENSP00000367527:p.Glu148Lys					DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E33K|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E33K|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E28K|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.E148K|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E28K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E28K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E28K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E33K|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E148K	p.E28K	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			6	526	-			148					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.82G>A	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700058	0.88924	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843;ENST00000378241;ENST00000456122	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80824	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-1.42;-0.61;-1.11	5.41	5.41	0.78517	Beta-lactamase-like (1);	0.044068	0.85682	D	0.000000	D	0.87281	0.6138	L	0.52266	1.64	0.80722	D	1	B;D;B	0.89917	0.032;1.0;0.256	B;D;B	0.74348	0.064;0.983;0.212	D	0.85588	0.1244	10	0.39692	T	0.17	.	19.5802	0.95464	0.0:1.0:0.0:0.0	.	148;33;148	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	K	148;28;33;33;33;28;28;28;148;28;2;28;33	ENSP00000367538:E148K;ENSP00000400529:E28K;ENSP00000367492:E33K;ENSP00000350349:E33K;ENSP00000367496:E33K;ENSP00000380030:E28K;ENSP00000367503:E28K;ENSP00000367502:E28K;ENSP00000367527:E148K;ENSP00000367506:E28K;ENSP00000391428:E2K;ENSP00000367487:E28K;ENSP00000413180:E33K	ENSP00000350349:E33K	E	-	1	0	DCLRE1C	15017490	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.366000	0.79548	2.712000	0.92718	0.650000	0.86243	GAG		0.428	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		11	260	0	0	0	1	0	11	260				
USP28	57646	broad.mit.edu	37	11	113698036	113698036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113698036C>T	ENST00000003302.4	-	11	1174	c.1106G>A	c.(1105-1107)aGa>aAa	p.R369K	USP28_ENST00000260188.5_Missense_Mutation_p.R369K|USP28_ENST00000544967.1_Missense_Mutation_p.R77K|USP28_ENST00000537706.1_Missense_Mutation_p.R369K|USP28_ENST00000545540.1_Missense_Mutation_p.R244K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	369	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R369I(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAACTCAAATCTTGAGAGTTC	0.368																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			1	Substitution - Missense(1)	p.R369I(1)	large_intestine(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						c.(1105-1107)aGa>aAa		ubiquitin specific peptidase 28							72.0	73.0	72.0					11																	113698036		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113698036C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1106G>A	11.37:g.113698036C>T	ENSP00000003302:p.Arg369Lys					USP28_ENST00000544967.1_Missense_Mutation_p.R77K|USP28_ENST00000537706.1_Missense_Mutation_p.R369K|USP28_ENST00000260188.5_Missense_Mutation_p.R369K|USP28_ENST00000545540.1_Missense_Mutation_p.R244K	p.R369K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	11	1174	-		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)	369					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1106G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248759	0.95305	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;D	0.91180	0.33;0.33;0.33;0.33;0.33;-2.8	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.97133	0.9063	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.998;0.993;0.994	D	0.98327	1.0531	10	0.87932	D	0	-14.812	18.4742	0.90786	0.0:1.0:0.0:0.0	.	244;369;369;77	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	K	369;369;77;244;133;369	ENSP00000003302:R369K;ENSP00000260188:R369K;ENSP00000442431:R77K;ENSP00000444991:R244K;ENSP00000442257:R133K;ENSP00000445743:R369K	ENSP00000003302:R369K	R	-	2	0	USP28	113203246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.649000	0.89929	0.563000	0.77884	AGA		0.368	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			18	35	0	0	0	1	0	18	35				
GRIN2A	2903	broad.mit.edu	37	16	9858640	9858640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:9858640C>T	ENST00000396573.2	-	14	3070	c.2761G>A	c.(2761-2763)Gct>Act	p.A921T	GRIN2A_ENST00000535259.1_Missense_Mutation_p.A764T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A921T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A921T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A921T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A921T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	921					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGTCAGCAGCTCTTTTGGGT	0.468																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2761-2763)Gct>Act		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						222.0	194.0	203.0					16																	9858640		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858640C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2761G>A	16.37:g.9858640C>T	ENSP00000379818:p.Ala921Thr					GRIN2A_ENST00000562109.1_Missense_Mutation_p.A921T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A764T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A921T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A921T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A921T	p.A921T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3070	-			921					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2761G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053443	0.19907	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12255	2.7;2.71;2.71;2.7;2.7	5.52	-2.1	0.07210	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.595796	0.19130	N	0.121946	T	0.04815	0.0130	N	0.11255	0.115	0.27642	N	0.947698	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.13407	0.005;0.009;0.001	T	0.36089	-0.9762	9	.	.	.	.	3.9006	0.09159	0.3192:0.1846:0.0:0.4962	.	764;921;921	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	921;921;764;921;921	ENSP00000379818:A921T;ENSP00000385872:A921T;ENSP00000441572:A764T;ENSP00000332549:A921T;ENSP00000379820:A921T	.	A	-	1	0	GRIN2A	9766141	0.901000	0.30685	0.856000	0.33681	0.959000	0.62525	-0.050000	0.11904	-0.011000	0.14247	-0.274000	0.10170	GCT		0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			62	123	0	0	0	1	0	62	123				
SETD2	29072	broad.mit.edu	37	3	47162345	47162345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:47162345C>T	ENST00000409792.3	-	3	3823	c.3781G>A	c.(3781-3783)Gac>Aac	p.D1261N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1261					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGAGAAGTCCCAACCTAAG	0.438			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(3781-3783)Gac>Aac		SET domain containing 2							103.0	102.0	102.0					3																	47162345		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162345C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3781G>A	3.37:g.47162345C>T	ENSP00000386759:p.Asp1261Asn						p.D1261N	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	3823	-		Acute lymphoblastic leukemia(5;0.0169)	1261					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.3781G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699940	0.48307	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.91577	-2.87;0.87	5.28	4.41	0.53225	.	0.388067	0.24727	N	0.036087	D	0.85150	0.5631	L	0.27053	0.805	0.47511	D	0.999448	B;B	0.31383	0.321;0.321	B;B	0.31812	0.136;0.086	D	0.84930	0.0859	10	0.87932	D	0	.	13.8999	0.63797	0.0:0.9269:0.0:0.0731	.	1261;1261	F2Z317;Q9BYW2	.;SETD2_HUMAN	N	1261;1261;1261;1217	ENSP00000386759:D1261N;ENSP00000416401:D1217N	ENSP00000386759:D1261N	D	-	1	0	SETD2	47137349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.452000	0.60054	1.457000	0.47850	0.655000	0.94253	GAC		0.438	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		41	74	0	0	0	1	0	41	74				
VPS41	27072	broad.mit.edu	37	7	38813727	38813727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:38813727C>T	ENST00000310301.4	-	12	1054	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	VPS41_ENST00000395969.2_Missense_Mutation_p.D309N|VPS41_ENST00000466017.1_5'UTR	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	334					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						AAATGATAATCTCTACATTCA	0.383																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1000-1002)Gat>Aat		vacuolar protein sorting 41 homolog (S. cerevisiae)							153.0	158.0	156.0					7																	38813727		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38813727C>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1000G>A	7.37:g.38813727C>T	ENSP00000309457:p.Asp334Asn					VPS41_ENST00000395969.2_Missense_Mutation_p.D309N|VPS41_ENST00000466017.1_5'UTR	p.D334N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			12	1054	-			334					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1000G>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325932	0.95708	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.58940	0.3;0.3	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	M	0.89715	3.055	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.64042	0.921;0.837;0.837	T	0.82514	-0.0419	10	0.54805	T	0.06	-30.5687	20.3437	0.98782	0.0:1.0:0.0:0.0	.	334;309;334	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	N	334;309	ENSP00000309457:D334N;ENSP00000379297:D309N	ENSP00000309457:D334N	D	-	1	0	VPS41	38780252	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.401000	0.79962	2.815000	0.96918	0.561000	0.74099	GAT		0.383	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			10	270	0	0	0	1	0	10	270				
ST7L	54879	broad.mit.edu	37	1	113068685	113068685	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:113068685C>T	ENST00000358039.4	-	15	1982	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ST7L_ENST00000369669.1_Missense_Mutation_p.E377K|WNT2B_ENST00000369686.5_3'UTR|ST7L_ENST00000490067.1_Missense_Mutation_p.E543K|ST7L_ENST00000360743.4_Missense_Mutation_p.E529K|ST7L_ENST00000544629.1_Missense_Mutation_p.E495K	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	560					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		tgtgtattctccTCAAAGCCT	0.478																																						ENST00000358039.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15						c.(1678-1680)Gag>Aag		suppression of tumorigenicity 7 like							131.0	133.0	132.0					1																	113068685		2203	4300	6503	SO:0001583	missense	54879				negative regulation of cell growth	integral to membrane	binding	g.chr1:113068685C>T	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1678G>A	1.37:g.113068685C>T	ENSP00000350734:p.Glu560Lys					ST7L_ENST00000490067.1_Missense_Mutation_p.E543K|ST7L_ENST00000544629.1_Missense_Mutation_p.E495K|ST7L_ENST00000369669.1_Missense_Mutation_p.E377K|ST7L_ENST00000360743.4_Missense_Mutation_p.E529K	p.E560K	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	1982	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	560					A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	c.1678G>A	CCDS848.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.706085	0.68615	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067	T;T;T;T;T	0.18502	2.49;2.36;2.21;2.46;2.49	4.69	-2.29	0.06805	.	1.823370	0.02491	N	0.089420	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.001	T	0.42207	-0.9465	10	0.62326	D	0.03	0.1721	5.4587	0.16604	0.0:0.3033:0.1568:0.5399	.	495;495;543;529;560	B7Z3J2;F5H2P3;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;ST7L_HUMAN	K	560;529;310;495;377;543	ENSP00000350734:E560K;ENSP00000353972:E529K;ENSP00000445499:E495K;ENSP00000358683:E377K;ENSP00000417140:E543K	ENSP00000350734:E560K	E	-	1	0	ST7L	112870208	0.003000	0.15002	0.000000	0.03702	0.961000	0.63080	-1.138000	0.03216	-0.412000	0.07519	0.655000	0.94253	GAG		0.478	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			37	81	0	0	0	1	0	37	81				
CDCA2	157313	broad.mit.edu	37	8	25325844	25325844	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:25325844C>T	ENST00000330560.3	+	6	1127	c.650C>T	c.(649-651)gCt>gTt	p.A217V	CDCA2_ENST00000380665.3_Missense_Mutation_p.A202V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	217					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)		CTGACGGATGCTGAAGGAAAA	0.438																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(649-651)gCt>gTt		cell division cycle associated 2							111.0	113.0	113.0					8																	25325844		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25325844C>T	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.650C>T	8.37:g.25325844C>T	ENSP00000328228:p.Ala217Val					CDCA2_ENST00000380665.3_Missense_Mutation_p.A202V	p.A217V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	6	1127	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	217					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.650C>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892836	0.33442	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.35421	1.31;1.31	5.01	0.914	0.19360	.	0.855611	0.10258	N	0.696380	T	0.29716	0.0742	L	0.51422	1.61	0.09310	N	1	B;B;B	0.27932	0.194;0.194;0.194	B;B;B	0.27715	0.066;0.082;0.082	T	0.28202	-1.0051	10	0.48119	T	0.1	0.6557	5.5398	0.17031	0.0:0.4895:0.3483:0.1622	.	217;202;217	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	V	217;202	ENSP00000328228:A217V;ENSP00000370040:A202V	ENSP00000328228:A217V	A	+	2	0	CDCA2	25381761	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.471000	0.06631	0.295000	0.22570	-0.291000	0.09656	GCT		0.438	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		21	51	0	0	0	1	0	21	51				
MUC21	394263	broad.mit.edu	37	6	30954822	30954822	+	Silent	SNP	C	C	T	rs201865378		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30954822C>T	ENST00000376296.3	+	2	1111	c.870C>T	c.(868-870)tcC>tcT	p.S290S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	290	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATTCTGAGTCCAGCACACCCT	0.597																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(868-870)tcC>tcT		mucin 21, cell surface associated							201.0	193.0	196.0					6																	30954822		2203	4300	6503	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30954822C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.870C>T	6.37:g.30954822C>T						MUC21_ENST00000486149.2_5'UTR	p.S290S	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1111	+			290			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.870C>T	CCDS34388.1																																																																																				0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		89	155	0	0	0	1	0	89	155				
DMKN	93099	broad.mit.edu	37	19	36002313	36002313	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36002313C>T	ENST00000339686.3	-	5	1094	c.918G>A	c.(916-918)tgG>tgA	p.W306*	DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000418261.1_Splice_Site_p.W306*|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000451297.2_Splice_Site_p.W306*|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000447113.2_Splice_Site_p.W306*|DMKN_ENST00000440396.1_Splice_Site_p.W306*|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000424570.2_Splice_Site_p.W306*	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	306	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAAACTCACCCAGGAGGACT	0.647																																						ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.e5+1		dermokine							41.0	38.0	39.0					19																	36002313		2203	4300	6503	SO:0001630	splice_region_variant	93099					extracellular region		g.chr19:36002313C>T	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.918+1G>A	19.37:g.36002313C>T						DMKN_ENST00000418261.1_Splice_Site_p.W306_splice|DMKN_ENST00000440396.1_Splice_Site_p.W306_splice|DMKN_ENST00000424570.2_Splice_Site_p.W306_splice|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000451297.2_Splice_Site_p.W306_splice|DMKN_ENST00000447113.2_Splice_Site_p.W306_splice	p.W306_splice	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	1094	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		306			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Splice_Site	SNP	ENST00000339686.3	37	c.918_splice	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246163	0.95272	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	.	.	.	3.62	2.54	0.30619	.	2.467140	0.02423	N	0.082756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9648	8.2507	0.31715	0.237:0.763:0.0:0.0	.	.	.	.	X	306	.	.	W	-	3	0	DMKN	40694153	0.218000	0.23608	0.811000	0.32455	0.651000	0.38670	0.268000	0.18571	1.063000	0.40649	0.561000	0.74099	TGG		0.647	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	Nonsense_Mutation	3	25	0	0	0	1	0	3	25				
CA9	768	broad.mit.edu	37	9	35674236	35674236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:35674236G>A	ENST00000378357.4	+	1	384	c.280G>A	c.(280-282)Gat>Aat	p.D94N	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	94	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGGAGAGGAGGATCTACCTGA	0.537																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(280-282)Gat>Aat		carbonic anhydrase IX							65.0	58.0	60.0					9																	35674236		2203	4300	6503	SO:0001583	missense	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35674236G>A	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.280G>A	9.37:g.35674236G>A	ENSP00000367608:p.Asp94Asn						p.D94N	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	384	+	all_epithelial(49;0.217)		94			Proteoglycan-like (PG).		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.280G>A	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670167	0.29693	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.66280	-0.2	4.61	2.71	0.32032	.	2.462730	0.02321	U	0.073017	T	0.55369	0.1916	L	0.38175	1.15	0.09310	N	1	P;P	0.37781	0.59;0.608	B;B	0.38954	0.286;0.149	T	0.41360	-0.9513	10	0.25751	T	0.34	.	7.6238	0.28200	0.0936:0.1673:0.7391:0.0	.	94;94	F5H404;Q16790	.;CAH9_HUMAN	N	94	ENSP00000367608:D94N	ENSP00000367608:D94N	D	+	1	0	CA9	35664236	1.000000	0.71417	0.002000	0.10522	0.034000	0.12701	4.005000	0.57075	0.524000	0.28502	0.591000	0.81541	GAT		0.537	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		11	21	0	0	0	1	0	11	21				
ARHGAP24	83478	broad.mit.edu	37	4	86863308	86863308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:86863308G>A	ENST00000395184.1	+	5	947	c.481G>A	c.(481-483)Gac>Aac	p.D161N	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.D66N|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.D68N|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.D161N	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	161	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GCAGTGCGTGGACTTTATCCG	0.483																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(481-483)Gac>Aac		Rho GTPase activating protein 24							88.0	87.0	88.0					4																	86863308		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86863308G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.481G>A	4.37:g.86863308G>A	ENSP00000378611:p.Asp161Asn					ARHGAP24_ENST00000395183.2_Missense_Mutation_p.D66N|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.D68N|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.D161N	p.D161N	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	5	947	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	161			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.481G>A	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584054	0.86748	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T;T	0.42513	2.16;2.16;0.97;2.16;2.16;2.16;2.16	5.98	5.98	0.97165	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.041188	0.85682	D	0.000000	T	0.59362	0.2188	L	0.43646	1.37	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.997	D;D;D;D	0.79784	0.986;0.974;0.993;0.962	T	0.50092	-0.8868	10	0.35671	T	0.21	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	66;68;161;161	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	N	161;161;66;66;35;76;68	ENSP00000378611:D161N;ENSP00000423206:D161N;ENSP00000426105:D66N;ENSP00000378610:D66N;ENSP00000424256:D35N;ENSP00000425589:D76N;ENSP00000264343:D68N	ENSP00000264343:D68N	D	+	1	0	ARHGAP24	87082332	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.976000	0.88070	2.843000	0.97960	0.650000	0.86243	GAC		0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		18	40	0	0	0	1	0	18	40				
LPL	4023	broad.mit.edu	37	8	19805734	19805734	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:19805734G>A	ENST00000311322.8	+	2	602	c.132G>A	c.(130-132)agG>agA	p.R44R	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	44					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TTGCCCTAAGGACCCCTGAAG	0.438																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(130-132)agG>agA		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						139.0	131.0	134.0					8																	19805734		2203	4300	6503	SO:0001819	synonymous_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19805734G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.132G>A	8.37:g.19805734G>A						LPL_ENST00000521994.1_3'UTR	p.R44R	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	602	+			44					B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	37	c.132G>A	CCDS6012.1																																																																																				0.438	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			17	111	0	0	0	1	0	17	111				
SBF1	6305	broad.mit.edu	37	22	50894648	50894648	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50894648G>A	ENST00000390679.3	-	30	4369	c.4185C>T	c.(4183-4185)atC>atT	p.I1395I	SBF1_ENST00000348911.6_Silent_p.I1396I|SBF1_ENST00000380817.3_Silent_p.I1421I|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1395	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGACCTGGATCAGCCACT	0.632																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4261-4263)atC>atT		SET binding factor 1							22.0	27.0	26.0					22																	50894648		2095	4206	6301	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50894648G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4185C>T	22.37:g.50894648G>A						SBF1_ENST00000348911.6_Silent_p.I1396I|SBF1_ENST00000390679.3_Silent_p.I1395I	p.I1421I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	31	4446	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1395			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.4263C>T																																																																																					0.632	SBF1-201	KNOWN	basic	protein_coding	protein_coding				3	20	0	0	0	1	0	3	20				
CR1	1378	broad.mit.edu	37	1	207790086	207790086	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207790086C>T	ENST00000367049.4	+	41	6828	c.6828C>T	c.(6826-6828)gaC>gaT	p.D2276D	CR1_ENST00000367052.1_Silent_p.D1826D|CR1_ENST00000367051.1_Silent_p.D1826D|CR1_ENST00000400960.2_Silent_p.D1826D|CR1_ENST00000367053.1_Silent_p.D1826D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1826					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCACAAGTGACCCTCAAGGGA	0.517																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6826-6828)gaC>gaT		complement component (3b/4b) receptor 1 (Knops blood group)							148.0	150.0	150.0					1																	207790086		1963	4137	6100	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207790086C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6828C>T	1.37:g.207790086C>T						CR1_ENST00000400960.2_Silent_p.D1826D|CR1_ENST00000367053.1_Silent_p.D1826D|CR1_ENST00000367051.1_Silent_p.D1826D|CR1_ENST00000367052.1_Silent_p.D1826D	p.D2276D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			41	6828	+			1826					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.6828C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.341861	0.01277	.	.	ENSG00000203710	ENST00000529814	.	.	.	4.15	2.24	0.28232	.	.	.	.	.	T	0.32615	0.0835	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20672	-1.0268	4	.	.	.	.	7.0377	0.25002	0.0:0.7896:0.0:0.2104	.	.	.	.	I	449	.	.	T	+	2	0	CR1	205856709	0.002000	0.14202	0.011000	0.14972	0.078000	0.17371	-0.377000	0.07456	0.685000	0.31468	0.609000	0.83330	ACC		0.517	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		10	120	0	0	0	1	0	10	120				
ZNF280C	55609	broad.mit.edu	37	X	129380893	129380893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:129380893C>T	ENST00000370978.4	-	3	271	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCGTCATCCTCATCCTGAGTT	0.368																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(118-120)Gag>Aag		zinc finger protein 280C							302.0	247.0	266.0					X																	129380893		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129380893C>T	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.118G>A	X.37:g.129380893C>T	ENSP00000360017:p.Glu40Lys						p.E40K	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			3	271	-			40					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.118G>A	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	C	5.931	0.355758	0.11239	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.05081	4.26;3.5	3.53	2.64	0.31445	.	.	.	.	.	T	0.05502	0.0145	L	0.40543	1.245	0.23628	N	0.997252	B;B	0.22146	0.065;0.016	B;B	0.16289	0.015;0.01	T	0.42816	-0.9429	9	0.19147	T	0.46	.	7.4965	0.27492	0.0:0.859:0.0:0.141	.	40;40	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	K	40	ENSP00000360017:E40K;ENSP00000408521:E40K	ENSP00000066465:E40K	E	-	1	0	ZNF280C	129208574	0.878000	0.30173	0.634000	0.29324	0.228000	0.25075	1.428000	0.34892	0.633000	0.30452	0.415000	0.27848	GAG		0.368	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		83	127	0	0	0	1	0	83	127				
C5	727	broad.mit.edu	37	9	123751952	123751952	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:123751952G>A	ENST00000223642.1	-	24	3077	c.3048C>T	c.(3046-3048)gtC>gtT	p.V1016V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1016					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AGAATACTGGGACAACGCTCA	0.413																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(3046-3048)gtC>gtT		complement component 5	Eculizumab(DB01257)						76.0	74.0	75.0					9																	123751952		2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123751952G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3048C>T	9.37:g.123751952G>A							p.V1016V	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	24	3077	-			1016					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.3048C>T	CCDS6826.1																																																																																				0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		4	45	0	0	0	1	0	4	45				
EPC2	26122	broad.mit.edu	37	2	149511499	149511499	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:149511499G>A	ENST00000258484.6	+	4	497	c.463G>A	c.(463-465)Gta>Ata	p.V155I		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	155					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CATTTAGCTTGTAACACTTCA	0.348																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(463-465)Gta>Ata		enhancer of polycomb homolog 2 (Drosophila)							61.0	54.0	56.0					2																	149511499		1829	4077	5906	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149511499G>A	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.463G>A	2.37:g.149511499G>A	ENSP00000258484:p.Val155Ile						p.V155I	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	4	497	+			155					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.463G>A	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912622	0.72983	.	.	ENSG00000135999	ENST00000457184;ENST00000258484;ENST00000397424	.	.	.	5.86	5.86	0.93980	.	0.058691	0.64402	D	0.000003	T	0.66277	0.2773	M	0.73430	2.235	0.80722	D	1	B	0.32918	0.39	B	0.32211	0.142	T	0.66015	-0.6028	9	0.46703	T	0.11	-3.6851	20.1754	0.98177	0.0:0.0:1.0:0.0	.	155	Q52LR7	EPC2_HUMAN	I	131;155;84	.	ENSP00000258484:V155I	V	+	1	0	EPC2	149227969	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.590000	0.74085	2.774000	0.95407	0.655000	0.94253	GTA		0.348	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		5	13	0	0	0	1	0	5	13				
SLC50A1	55974	broad.mit.edu	37	1	155109372	155109372	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155109372G>A	ENST00000368404.4	+	3	289	c.227G>A	c.(226-228)gGt>gAt	p.G76D	SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000303343.8_Missense_Mutation_p.G76D|SLC50A1_ENST00000368401.5_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	76	MtN3/slv 1.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						AACACAGTGGGTGCTGCGCTT	0.582																																						ENST00000368404.4																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(226-228)gGt>gAt		solute carrier family 50 (sugar efflux transporter), member 1							136.0	120.0	126.0					1																	155109372		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155109372G>A	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.227G>A	1.37:g.155109372G>A	ENSP00000357389:p.Gly76Asp					SLC50A1_ENST00000303343.8_Missense_Mutation_p.G76D|SLC50A1_ENST00000368401.5_Intron|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000484157.1_Intron	p.G76D	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN			3	289	+			76			MtN3/slv 1.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.227G>A	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217344	0.79352	.	.	ENSG00000169241	ENST00000303343;ENST00000368404	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	D	0.87020	0.2128	9	0.87932	D	0	-3.5163	16.1358	0.81487	0.0:0.0:1.0:0.0	.	76;76	Q9BRV3-3;Q9BRV3	.;SWET1_HUMAN	D	76	.	ENSP00000306146:G76D	G	+	2	0	SLC50A1	153375996	1.000000	0.71417	0.883000	0.34634	0.511000	0.34104	8.004000	0.88535	2.473000	0.83533	0.655000	0.94253	GGT		0.582	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		13	29	0	0	0	1	0	13	29				
KCTD19	146212	broad.mit.edu	37	16	67331560	67331560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67331560C>T	ENST00000304372.5	-	7	1048	c.993G>A	c.(991-993)tgG>tgA	p.W331*	KCTD19_ENST00000562860.1_5'Flank	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	331					protein homooligomerization (GO:0051260)					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)		AAGTCCCCAGCCAGTTCCTGC	0.532																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(991-993)tgG>tgA		potassium channel tetramerization domain containing 19							57.0	61.0	60.0					16																	67331560		1936	4126	6062	SO:0001587	stop_gained	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67331560C>T	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.993G>A	16.37:g.67331560C>T	ENSP00000305702:p.Trp331*						p.W331*	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	7	1048	-		Ovarian(137;0.192)	331					B4DZ49|Q8N804	Nonsense_Mutation	SNP	ENST00000304372.5	37	c.993G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	36	5.613927	0.96637	.	.	ENSG00000168676	ENST00000304372	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.216	17.1472	0.86769	0.0:1.0:0.0:0.0	.	.	.	.	X	331	.	ENSP00000305702:W331X	W	-	3	0	KCTD19	65889061	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.641000	0.61375	2.837000	0.97791	0.655000	0.94253	TGG		0.532	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		22	41	0	0	0	1	0	22	41				
TULP3	7289	broad.mit.edu	37	12	3040203	3040203	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:3040203G>A	ENST00000448120.2	+	6	544	c.493G>A	c.(493-495)Gat>Aat	p.D165N	RNU7-166P_ENST00000459397.1_RNA|TULP3_ENST00000397132.2_Splice_Site_p.D165N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	165					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)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTCCTTTCAGGATACAGGCAC	0.483																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e6-1		tubby like protein 3							105.0	102.0	103.0					12																	3040203		2203	4300	6503	SO:0001630	splice_region_variant	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3040203G>A	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.493-1G>A	12.37:g.3040203G>A						TULP3_ENST00000397132.2_Splice_Site_p.D165_splice	p.D165_splice	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		6	544	+			165					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Splice_Site	SNP	ENST00000448120.2	37	c.492_splice	CCDS8519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.93|13.93	2.384464|2.384464	0.42308|0.42308	.|.	.|.	ENSG00000078246|ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132|ENST00000535226	D;D|.	0.91945|.	-2.92;-2.94|.	5.67|5.67	4.79|4.79	0.61399|0.61399	.|.	2.806100|.	0.01629|.	N|.	0.023420|.	T|T	0.45756|0.45756	0.1358|0.1358	L|L	0.36672|0.36672	1.1|1.1	0.30269|0.30269	N|N	0.792417|0.792417	B;P;P|.	0.47910|.	0.002;0.57;0.902|.	B;B;P|.	0.46543|.	0.002;0.196;0.52|.	T|T	0.46303|0.46303	-0.9201|-0.9201	9|5	.|.	.|.	.|.	-17.5586|-17.5586	13.5281|13.5281	0.61607|0.61607	0.0743:0.0:0.9257:0.0|0.0743:0.0:0.9257:0.0	.|.	22;165;165|.	B7Z1E7;O75386;F8WBZ9|.	.;TULP3_HUMAN;.|.	N|E	165;22;165;165|157	ENSP00000410051:D165N;ENSP00000380321:D165N|.	.|.	D|G	+|+	1|2	0|0	TULP3|TULP3	2910464|2910464	1.000000|1.000000	0.71417|0.71417	0.700000|0.700000	0.30305|0.30305	0.407000|0.407000	0.30961|0.30961	4.977000|4.977000	0.63792|0.63792	1.400000|1.400000	0.46741|0.46741	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.483	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324	Missense_Mutation	6	150	0	0	0	1	0	6	150				
KIF1C	10749	broad.mit.edu	37	17	4927148	4927148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4927148C>T	ENST00000320785.5	+	23	3371	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1005	Pro-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGCTCCAACCCCCTGAGGAG	0.687																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(3013-3015)cCc>cTc		kinesin family member 1C							26.0	28.0	27.0					17																	4927148		2199	4299	6498	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4927148C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.3014C>T	17.37:g.4927148C>T	ENSP00000320821:p.Pro1005Leu						p.P1005L	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			23	3371	+			1005			Pro-rich.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.3014C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397133	0.62177	.	.	ENSG00000129250	ENST00000320785	T	0.72942	-0.7	4.79	4.79	0.61399	.	.	.	.	.	T	0.68439	0.3001	N	0.08118	0	0.43330	D	0.995367	D	0.71674	0.998	D	0.73708	0.981	T	0.72947	-0.4137	9	0.51188	T	0.08	.	13.1944	0.59730	0.0:1.0:0.0:0.0	.	1005	O43896	KIF1C_HUMAN	L	1005	ENSP00000320821:P1005L	ENSP00000320821:P1005L	P	+	2	0	KIF1C	4867872	0.082000	0.21442	0.994000	0.49952	0.725000	0.41563	3.068000	0.50018	2.488000	0.83962	0.561000	0.74099	CCC		0.687	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			15	37	0	0	0	1	0	15	37				
ZBTB49	166793	broad.mit.edu	37	4	4322810	4322810	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:4322810G>A	ENST00000337872.4	+	8	2186	c.2065G>A	c.(2065-2067)Gcc>Acc	p.A689T	ZBTB49_ENST00000355834.3_Missense_Mutation_p.A567T|RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Missense_Mutation_p.A172T	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACAGCCTCAGGCCTATGCTTA	0.567																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(2065-2067)Gcc>Acc		zinc finger and BTB domain containing 49							59.0	54.0	56.0					4																	4322810		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322810G>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.2065G>A	4.37:g.4322810G>A	ENSP00000338807:p.Ala689Thr					ZBTB49_ENST00000538529.1_Missense_Mutation_p.A172T|ZBTB49_ENST00000355834.3_Missense_Mutation_p.A567T	p.A689T	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			8	2186	+			689					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.2065G>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974295	0.18736	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14144	2.53;2.92;3.21	4.32	-0.983	0.10263	.	0.618468	0.14301	N	0.328251	T	0.11495	0.0280	M	0.63428	1.95	0.09310	N	1	B;B	0.16396	0.017;0.001	B;B	0.12156	0.007;0.002	T	0.26538	-1.0100	10	0.42905	T	0.14	.	2.6568	0.05015	0.3917:0.1551:0.3543:0.0989	.	567;689	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	T	567;689;172	ENSP00000348091:A567T;ENSP00000338807:A689T;ENSP00000445653:A172T	ENSP00000338807:A689T	A	+	1	0	ZBTB49	4373711	0.003000	0.15002	0.003000	0.11579	0.001000	0.01503	0.095000	0.15127	-0.137000	0.11455	-2.049000	0.00408	GCC		0.567	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		11	59	0	0	0	1	0	11	59				
ARMCX5	64860	broad.mit.edu	37	X	101857524	101857524	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:101857524G>T	ENST00000604957.1	+	1	3077	c.455G>T	c.(454-456)aGa>aTa	p.R152I	ARMCX5_ENST00000246174.2_Missense_Mutation_p.R152I|ARMCX5_ENST00000537008.1_Missense_Mutation_p.R152I|ARMCX5_ENST00000541409.1_Missense_Mutation_p.R152I|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.R152I|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.R152I	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	152										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGACCTGACAGAAGGGAAGAG	0.468																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(454-456)aGa>aTa		armadillo repeat containing, X-linked 5							182.0	164.0	170.0					X																	101857524		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857524G>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.455G>T	X.37:g.101857524G>T	ENSP00000474720:p.Arg152Ile					ARMCX5_ENST00000536530.1_Missense_Mutation_p.R152I|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.R152I|ARMCX5_ENST00000246174.2_Missense_Mutation_p.R152I|ARMCX5_ENST00000537008.1_Missense_Mutation_p.R152I|ARMCX5_ENST00000372742.1_Missense_Mutation_p.R152I|RP4-769N13.6_ENST00000476910.1_RNA	p.R152I	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3077	+			152					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.455G>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	6.479	0.456509	0.12283	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	3.36	-5.41	0.02648	.	.	.	.	.	T	0.07369	0.0186	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30268	-0.9984	9	0.37606	T	0.19	0.4032	2.2595	0.04063	0.1016:0.4001:0.2443:0.254	.	152	Q6P1M9	ARMX5_HUMAN	I	152	ENSP00000246174:R152I;ENSP00000439001:R152I;ENSP00000446385:R152I;ENSP00000445851:R152I;ENSP00000361827:R152I	ENSP00000246174:R152I	R	+	2	0	ARMCX5	101744180	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.189000	0.01248	-1.785000	0.01271	-0.347000	0.07816	AGA		0.468	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		53	107	1	0	4.17463e-26	1	4.20138e-26	53	107				
HSF4	3299	broad.mit.edu	37	16	67202739	67202739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67202739C>T	ENST00000521374.1	+	10	1088	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	HSF4_ENST00000264009.8_Missense_Mutation_p.P363L|HSF4_ENST00000421453.1_Missense_Mutation_p.P333L|HSF4_ENST00000584272.1_Missense_Mutation_p.P333L|NOL3_ENST00000432069.2_5'Flank|NOL3_ENST00000564053.1_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	363					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CACAGGGGGCCTCTGGGCCTG	0.562																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1087-1089)cCt>cTt		heat shock transcription factor 4							59.0	65.0	63.0					16																	67202739		1923	4133	6056	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67202739C>T	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1088C>T	16.37:g.67202739C>T	ENSP00000430947:p.Pro363Leu					HSF4_ENST00000521374.1_Missense_Mutation_p.P363L|HSF4_ENST00000584272.1_Missense_Mutation_p.P333L|HSF4_ENST00000421453.1_Missense_Mutation_p.P333L	p.P363L	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	12	2053	+		Ovarian(137;0.0563)	363					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1088C>T	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.58|14.58	2.578299|2.578299	0.45902|0.45902	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.17|4.17	4.17|4.17	0.49024|0.49024	.|.	.|0.789398	.|0.11295	.|N	.|0.578807	T|T	0.35189|0.35189	0.0923|0.0923	N|N	0.14661|0.14661	0.345|0.345	0.35411|0.35411	D|D	0.792401|0.792401	.|B;B	.|0.31548	.|0.328;0.03	.|B;B	.|0.28011	.|0.085;0.014	T|T	0.40664|0.40664	-0.9551|-0.9551	5|9	.|0.32370	.|T	.|0.25	-6.495|-6.495	12.1564|12.1564	0.54079|0.54079	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|333;363	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	F|L	39|333;363;287;363	.|.	.|ENSP00000264009:P363L	L|P	+|+	1|2	0|0	HSF4|HSF4	65760240|65760240	0.934000|0.934000	0.31675|0.31675	0.993000|0.993000	0.49108|0.49108	0.721000|0.721000	0.41392|0.41392	1.161000|1.161000	0.31773|0.31773	2.312000|2.312000	0.78011|0.78011	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.562	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		4	72	0	0	0	1	0	4	72				
SAMD4A	23034	broad.mit.edu	37	14	55231238	55231238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:55231238G>A	ENST00000554335.1	+	8	2239	c.1576G>A	c.(1576-1578)Gac>Aac	p.D526N	SAMD4A_ENST00000555192.1_Missense_Mutation_p.D117N|SAMD4A_ENST00000251091.5_Missense_Mutation_p.D438N|SAMD4A_ENST00000392067.3_Missense_Mutation_p.D526N|SAMD4A_ENST00000357634.3_Missense_Mutation_p.D525N			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	526					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)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ACAGCTCATAGACAAGTGTCT	0.338																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(1312-1314)Gac>Aac		sterile alpha motif domain containing 4A							144.0	149.0	148.0					14																	55231238		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55231238G>A	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.1576G>A	14.37:g.55231238G>A	ENSP00000452535:p.Asp526Asn					SAMD4A_ENST00000392067.3_Missense_Mutation_p.D526N|SAMD4A_ENST00000554335.1_Missense_Mutation_p.D526N|SAMD4A_ENST00000357634.3_Missense_Mutation_p.D525N|SAMD4A_ENST00000555192.1_Missense_Mutation_p.D117N	p.D438N	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			6	1617	+			526					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.1312G>A	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	32	5.156928	0.94686	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	4.78	4.78	0.61160	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.85682	D	0.000000	T	0.76328	0.3972	M	0.66939	2.045	0.58432	D	0.99999	D;D;D	0.58620	0.983;0.968;0.975	P;P;P	0.62298	0.9;0.811;0.545	T	0.79581	-0.1744	9	0.87932	D	0	-5.8225	17.9997	0.89195	0.0:0.0:1.0:0.0	.	117;438;526	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	N	526;526;438;437;525;117	.	ENSP00000251091:D155N	D	+	1	0	SAMD4A	54300988	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.246000	0.95438	2.492000	0.84095	0.514000	0.50259	GAC		0.338	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		8	99	0	0	0	1	0	8	99				
EPHX2	2053	broad.mit.edu	37	8	27358475	27358475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:27358475G>A	ENST00000521400.1	+	2	564	c.134G>A	c.(133-135)gGa>gAa	p.G45E	EPHX2_ENST00000518379.1_Missense_Mutation_p.G45E|EPHX2_ENST00000380476.3_Intron|EPHX2_ENST00000521780.1_Intron|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000517536.1_Missense_Mutation_p.G45E	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	45	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CAGAAAGGGGGACCAGAGGGT	0.498																																						ENST00000521400.1																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(133-135)gGa>gAa		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						114.0	113.0	113.0					8																	27358475		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27358475G>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.134G>A	8.37:g.27358475G>A	ENSP00000430269:p.Gly45Glu					EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Intron|EPHX2_ENST00000517536.1_Missense_Mutation_p.G45E|EPHX2_ENST00000518379.1_Missense_Mutation_p.G45E|EPHX2_ENST00000380476.3_Intron	p.G45E	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	2	564	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	45			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.134G>A	CCDS6060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.70|14.70	2.614594|2.614594	0.46631|0.46631	.|.	.|.	ENSG00000120915|ENSG00000120915	ENST00000521684|ENST00000521400;ENST00000518328;ENST00000517536;ENST00000415449;ENST00000518379	.|T;T;T;T	.|0.10477	.|3.28;2.87;2.87;3.28	4.33|4.33	2.36|2.36	0.29203|0.29203	.|Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	.|0.228421	.|0.35708	.|N	.|0.003030	T|T	0.24967|0.24967	0.0606|0.0606	M|M	0.84585|0.84585	2.705|2.705	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.58268	.|0.92;0.982;0.963	.|P;P;P	.|0.58130	.|0.833;0.82;0.696	T|T	0.08229|0.08229	-1.0732|-1.0732	5|10	.|0.56958	.|D	.|0.05	-0.7408|-0.7408	4.505|4.505	0.11883|0.11883	0.1242:0.0:0.6528:0.223|0.1242:0.0:0.6528:0.223	.|.	.|45;45;45	.|E5RFU2;E7ETW9;P34913	.|.;.;HYES_HUMAN	N|E	45|45	.|ENSP00000430269:G45E;ENSP00000430779:G45E;ENSP00000428875:G45E;ENSP00000427956:G45E	.|ENSP00000395631:G45E	D|G	+|+	1|2	0|0	EPHX2|EPHX2	27414392|27414392	0.498000|0.498000	0.26075|0.26075	0.012000|0.012000	0.15200|0.15200	0.008000|0.008000	0.06430|0.06430	0.578000|0.578000	0.23773|0.23773	0.462000|0.462000	0.27095|0.27095	0.467000|0.467000	0.42956|0.42956	GAC|GGA		0.498	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			19	37	0	0	0	1	0	19	37				
ELAVL3	1995	broad.mit.edu	37	19	11569283	11569283	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11569283G>A	ENST00000359227.3	-	4	901	c.477C>T	c.(475-477)gaC>gaT	p.D159D	ELAVL3_ENST00000438662.2_Silent_p.D159D	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	159	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CTGTGACCTGGTCCACCAGGA	0.632																																						ENST00000359227.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(475-477)gaC>gaT		ELAV like neuron-specific RNA binding protein 3							105.0	91.0	95.0					19																	11569283		2203	4300	6503	SO:0001819	synonymous_variant	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11569283G>A		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.477C>T	19.37:g.11569283G>A						ELAVL3_ENST00000438662.2_Silent_p.D159D	p.D159D	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN			4	901	-			159			RRM 2.		Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	c.477C>T	CCDS32912.1																																																																																				0.632	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		23	45	0	0	0	1	0	23	45				
PFKFB1	5207	broad.mit.edu	37	X	54964068	54964068	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:54964068G>A	ENST00000375006.3	-	11	1258	c.1188C>T	c.(1186-1188)gtC>gtT	p.V396V	PFKFB1_ENST00000545676.1_Silent_p.V331V|PFKFB1_ENST00000374992.2_Silent_p.V196V	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	396	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GGCACCGCATGACAGCCTGGT	0.483																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(1186-1188)gtC>gtT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							110.0	79.0	90.0					X																	54964068		2203	4300	6503	SO:0001819	synonymous_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54964068G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1188C>T	X.37:g.54964068G>A						PFKFB1_ENST00000374992.2_Silent_p.V196V|PFKFB1_ENST00000545676.1_Silent_p.V331V	p.V396V	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			11	1258	-			396			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	c.1188C>T	CCDS14364.1																																																																																				0.483	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			5	22	0	0	0	1	0	5	22				
RRBP1	6238	broad.mit.edu	37	20	17622477	17622477	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:17622477C>T	ENST00000377813.1	-	5	2452	c.2149G>A	c.(2149-2151)Gct>Act	p.A717T	RRBP1_ENST00000377807.2_Missense_Mutation_p.A284T|RRBP1_ENST00000455029.2_Missense_Mutation_p.A58T|RRBP1_ENST00000246043.4_Missense_Mutation_p.A717T|RRBP1_ENST00000360807.4_Missense_Mutation_p.A284T			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	717					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.L275_V285delLLATEQEDAAV(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTGGCGACAGCCGCATCTTCC	0.572																																						ENST00000377813.1																			1	Deletion - In frame(1)	p.L275_V285delLLATEQEDAAV(1)	breast(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2149-2151)Gct>Act		ribosome binding protein 1							142.0	123.0	129.0					20																	17622477		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17622477C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2149G>A	20.37:g.17622477C>T	ENSP00000367044:p.Ala717Thr					RRBP1_ENST00000455029.2_Missense_Mutation_p.A58T|RRBP1_ENST00000360807.4_Missense_Mutation_p.A284T|RRBP1_ENST00000377807.2_Missense_Mutation_p.A284T|RRBP1_ENST00000246043.4_Missense_Mutation_p.A717T	p.A717T			Q9P2E9	RRBP1_HUMAN			5	2452	-			717					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.2149G>A		.	.	.	.	.	.	.	.	.	.	C	12.57	1.978829	0.34942	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	6.08	5.12	0.69794	.	0.483471	0.15516	N	0.258293	T	0.18383	0.0441	L	0.56769	1.78	0.32692	N	0.514059	B	0.32203	0.36	B	0.25506	0.061	T	0.16512	-1.0400	10	0.16420	T	0.52	-1.6069	9.185	0.37165	0.147:0.781:0.0:0.072	.	284	Q9P2E9-3	.	T	284;717;284;717;58	ENSP00000354045:A284T;ENSP00000367044:A717T;ENSP00000367038:A284T;ENSP00000246043:A717T;ENSP00000401206:A58T	ENSP00000246043:A717T	A	-	1	0	RRBP1	17570477	0.074000	0.21230	0.027000	0.17364	0.364000	0.29643	0.699000	0.25586	1.534000	0.49203	0.655000	0.94253	GCT		0.572	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		11	176	0	0	0	1	0	11	176				
PGM1	5236	broad.mit.edu	37	1	64095256	64095256	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:64095256G>A	ENST00000371084.3	+	2	620	c.407G>A	c.(406-408)gGa>gAa	p.G136E	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371083.4_Missense_Mutation_p.G154E	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	136					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATTTCTAATGGAGGTGAGTTT	0.428																																						ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(460-462)gGa>gAa		phosphoglucomutase 1							67.0	78.0	74.0					1																	64095256		2201	4300	6501	SO:0001583	missense	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64095256G>A	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.407G>A	1.37:g.64095256G>A	ENSP00000360125:p.Gly136Glu					PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371084.3_Missense_Mutation_p.G136E	p.G154E	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			2	829	+			136					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.461G>A	CCDS625.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078194	0.94000	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000371083	D;D	0.82344	-1.6;-1.6	5.48	5.48	0.80851	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	D	0.94358	0.8186	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95578	0.8644	10	0.87932	D	0	-27.8286	19.7462	0.96252	0.0:0.0:1.0:0.0	.	154;136	P36871-2;P36871	.;PGM1_HUMAN	E	112;136;154	ENSP00000360125:G136E;ENSP00000360124:G154E	ENSP00000360124:G154E	G	+	2	0	PGM1	63867844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.736000	0.93811	0.655000	0.94253	GGA		0.428	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		9	63	0	0	0	1	0	9	63				
CD2BP2	10421	broad.mit.edu	37	16	30365283	30365283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30365283C>T	ENST00000305596.3	-	4	489	c.314G>A	c.(313-315)gGc>gAc	p.G105D	CD2BP2_ENST00000569466.1_Missense_Mutation_p.G105D|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	105					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GAAGTAGTTGCCATCGGCATC	0.627																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(313-315)gGc>gAc		CD2 (cytoplasmic tail) binding protein 2							84.0	82.0	82.0					16																	30365283		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365283C>T	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.314G>A	16.37:g.30365283C>T	ENSP00000304903:p.Gly105Asp					CD2BP2_ENST00000569466.1_Missense_Mutation_p.G105D	p.G105D	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			4	489	-			105					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.314G>A	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	c	27.6	4.843489	0.91197	.	.	ENSG00000169217	ENST00000305596	T	0.73258	-0.73	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	M	0.89163	3.01	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.88836	0.3309	10	0.66056	D	0.02	2.138	17.9376	0.89017	0.0:1.0:0.0:0.0	.	105	O95400	CD2B2_HUMAN	D	105	ENSP00000304903:G105D	ENSP00000304903:G105D	G	-	2	0	CD2BP2	30272784	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.756000	0.74919	2.523000	0.85059	0.558000	0.71614	GGC		0.627	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		4	80	0	0	0	1	0	4	80				
RSRC1	51319	broad.mit.edu	37	3	157840018	157840018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:157840018G>A	ENST00000295930.3	+	2	287	c.125G>A	c.(124-126)aGg>aAg	p.R42K	RSRC1_ENST00000480820.1_Missense_Mutation_p.R42K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R42K|RSRC1_ENST00000464171.1_Missense_Mutation_p.R42K|RSRC1_ENST00000312179.6_Missense_Mutation_p.R42K	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	42	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAAGGAGGAAGGAAATCAAGA	0.378																																						ENST00000464171.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(124-126)aGg>aAg		arginine/serine-rich coiled-coil 1							100.0	95.0	96.0					3																	157840018		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157840018G>A	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.125G>A	3.37:g.157840018G>A	ENSP00000295930:p.Arg42Lys					RSRC1_ENST00000312179.6_Missense_Mutation_p.R42K|RSRC1_ENST00000480820.1_Missense_Mutation_p.R42K|RSRC1_ENST00000295930.3_Missense_Mutation_p.R42K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R42K	p.R42K	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		2	250	+			42			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.125G>A	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541000	0.45280	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899	.	.	.	5.41	4.54	0.55810	.	0.086926	0.85682	N	0.000000	T	0.30823	0.0777	N	0.24115	0.695	0.30813	N	0.738672	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.22977	-1.0201	9	0.20519	T	0.43	.	9.9478	0.41621	0.1555:0.0:0.8445:0.0	.	42;42;42	B4DTW0;Q96IZ7-2;Q96IZ7	.;.;RSRC1_HUMAN	K	42	.	ENSP00000295930:R42K	R	+	2	0	RSRC1	159322712	1.000000	0.71417	0.515000	0.27774	0.907000	0.53573	4.998000	0.63927	1.285000	0.44548	0.555000	0.69702	AGG		0.378	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		3	27	0	0	0	1	0	3	27				
PGM5	5239	broad.mit.edu	37	9	71144548	71144548	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:71144548G>A	ENST00000396396.1	+	11	1909	c.1680G>A	c.(1678-1680)cgG>cgA	p.R560R		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	560					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GAACTGGCCGGAGGGGACCCA	0.507																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1678-1680)cgG>cgA		phosphoglucomutase 5							54.0	47.0	49.0					9																	71144548		2203	4299	6502	SO:0001819	synonymous_variant	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71144548G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1680G>A	9.37:g.71144548G>A							p.R560R	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			11	1909	+			560					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	c.1680G>A	CCDS6622.2																																																																																				0.507	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		11	29	0	0	0	1	0	11	29				
XIRP2	129446	broad.mit.edu	37	2	168102059	168102059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:168102059C>T	ENST00000409195.1	+	9	4246	c.4157C>T	c.(4156-4158)tCt>tTt	p.S1386F	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1386F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1164F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1211					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.S1386C(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						GATGTTAGTTCTGTCAGATAC	0.343																																						ENST00000409195.1																			1	Substitution - Missense(1)	p.S1386C(1)	lung(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						c.(4156-4158)tCt>tTt		xin actin-binding repeat containing 2							71.0	66.0	67.0					2																	168102059		1846	4093	5939	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102059C>T	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.4157C>T	2.37:g.168102059C>T	ENSP00000386840:p.Ser1386Phe					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1164F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1386F|XIRP2_ENST00000409728.1_Intron	p.S1386F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4246	+			1211					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4157C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281606	0.59758	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04809	3.56;3.56;3.55	5.67	4.77	0.60923	.	0.242758	0.42420	D	0.000703	T	0.23649	0.0572	M	0.82056	2.57	0.54753	D	0.999985	D;D;D	0.89917	0.999;1.0;0.989	D;D;D	0.91635	0.997;0.999;0.912	T	0.01956	-1.1240	10	0.62326	D	0.03	-3.6088	16.1465	0.81575	0.0:0.866:0.134:0.0	.	1211;1211;1164	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	1386;1386;1164	ENSP00000386840:S1386F;ENSP00000295237:S1386F;ENSP00000387255:S1164F	ENSP00000295237:S1386F	S	+	2	0	XIRP2	167810305	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.755000	0.68750	1.348000	0.45733	0.563000	0.77884	TCT		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		18	24	0	0	0	1	0	18	24				
PAX9	5083	broad.mit.edu	37	14	37132396	37132396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:37132396G>A	ENST00000361487.6	+	2	524	c.299G>A	c.(298-300)tGg>tAg	p.W100*	PAX9_ENST00000402703.2_Nonsense_Mutation_p.W100*|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	100	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ATCTTCGCCTGGGAGATCCGG	0.637																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(298-300)tGg>tAg		paired box 9							68.0	71.0	70.0					14																	37132396		2203	4300	6503	SO:0001587	stop_gained	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132396G>A	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.299G>A	14.37:g.37132396G>A	ENSP00000355245:p.Trp100*					PAX9_ENST00000402703.2_Nonsense_Mutation_p.W100*|PAX9_ENST00000554201.1_5'UTR	p.W100*			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	524	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		100			Paired.		Q99582|Q9UQR4	Nonsense_Mutation	SNP	ENST00000361487.6	37	c.299G>A	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	G	43	9.943351	0.99300	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.742	0.91777	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000355245:W100X	W	+	2	0	PAX9	36202147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.440000	0.82611	0.561000	0.74099	TGG		0.637	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			51	73	0	0	0	1	0	51	73				
A2ML1	144568	broad.mit.edu	37	12	8975886	8975886	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:8975886G>A	ENST00000299698.7	+	2	351	c.171G>A	c.(169-171)gaG>gaA	p.E57E	A2ML1-AS1_ENST00000537288.1_RNA|A2ML1-AS2_ENST00000394240.3_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTACTCTGGAGACCAAGGACA	0.478																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(169-171)gaG>gaA		alpha-2-macroglobulin-like 1							106.0	105.0	105.0					12																	8975886		1916	4125	6041	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8975886G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.171G>A	12.37:g.8975886G>A						A2ML1-AS1_ENST00000537288.1_RNA	p.E57E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			2	351	+			0						Silent	SNP	ENST00000299698.7	37	c.171G>A	CCDS8596.2																																																																																				0.478	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		10	64	0	0	0	1	0	10	64				
HAL	3034	broad.mit.edu	37	12	96377691	96377691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:96377691G>A	ENST00000261208.3	-	15	1653	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	HAL_ENST00000538703.1_Missense_Mutation_p.P429S|HAL_ENST00000541929.1_Missense_Mutation_p.P221S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	429					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)			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)	AAAGATACAGGATTATCTGTT	0.348																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				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						c.(1285-1287)Cct>Tct		histidine ammonia-lyase	L-Histidine(DB00117)						143.0	121.0	128.0					12																	96377691		2202	4300	6502	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96377691G>A		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.1285C>T	12.37:g.96377691G>A	ENSP00000261208:p.Pro429Ser					HAL_ENST00000541929.1_Missense_Mutation_p.P221S|HAL_ENST00000538703.1_Missense_Mutation_p.P429S	p.P429S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			15	1653	-			429					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1285C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985927	0.74589	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	D;D;D	0.94184	-3.37;-3.37;-3.37	5.26	5.26	0.73747	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99647	1.0990	10	0.87932	D	0	-14.7668	19.2346	0.93853	0.0:0.0:1.0:0.0	.	429;429	F5GXF2;P42357	.;HUTH_HUMAN	S	429;221;429	ENSP00000261208:P429S;ENSP00000446364:P221S;ENSP00000440861:P429S	ENSP00000261208:P429S	P	-	1	0	HAL	94901822	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	9.265000	0.95647	2.612000	0.88384	0.650000	0.86243	CCT		0.348	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			26	55	0	0	0	1	0	26	55				
MEI1	150365	broad.mit.edu	37	22	42128302	42128302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42128302G>A	ENST00000401548.3	+	10	1190	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	MEI1_ENST00000540833.1_Missense_Mutation_p.E124K|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAACAACATAGAGCTGCACAA	0.547																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1150-1152)Gag>Aag		meiosis inhibitor 1							66.0	71.0	70.0					22																	42128302		2081	4208	6289	SO:0001583	missense	150365						binding	g.chr22:42128302G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1150G>A	22.37:g.42128302G>A	ENSP00000384115:p.Glu384Lys					MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.E124K	p.E384K	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			10	1190	+			384						Missense_Mutation	SNP	ENST00000401548.3	37	c.1150G>A	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143031	0.94560	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.17054	2.3;2.3	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.10291	-1.0636	10	0.66056	D	0.02	-6.3258	17.6945	0.88277	0.0:0.0:1.0:0.0	.	384;384	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	K	384;124	ENSP00000384115:E384K;ENSP00000444225:E124K	ENSP00000384115:E384K	E	+	1	0	MEI1	40458248	1.000000	0.71417	0.962000	0.40283	0.939000	0.58152	6.739000	0.74827	2.716000	0.92895	0.563000	0.77884	GAG		0.547	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		5	7	0	0	0	1	0	5	7				
FRAS1	80144	broad.mit.edu	37	4	79385607	79385607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:79385607C>T	ENST00000264895.6	+	49	7339	c.6899C>T	c.(6898-6900)aCt>aTt	p.T2300I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2300					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGACTCAGACTTTCCATATC	0.512																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(6898-6900)aCt>aTt		Fraser syndrome 1							127.0	122.0	124.0					4																	79385607		2051	4207	6258	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79385607C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6899C>T	4.37:g.79385607C>T	ENSP00000264895:p.Thr2300Ile						p.T2300I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			49	7339	+			2299					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.6899C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292798	0.40594	.	.	ENSG00000138759	ENST00000264895	T	0.37235	1.21	5.4	4.56	0.56223	.	0.233607	0.43416	D	0.000580	T	0.33469	0.0864	L	0.53780	1.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17379	-1.0371	10	0.66056	D	0.02	.	10.2069	0.43118	0.1357:0.7933:0.0:0.071	.	2300	E9PHH6	.	I	2300	ENSP00000264895:T2300I	ENSP00000264895:T2300I	T	+	2	0	FRAS1	79604631	0.994000	0.37717	0.986000	0.45419	0.005000	0.04900	3.150000	0.50662	1.421000	0.47157	0.650000	0.86243	ACT		0.512	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				17	50	0	0	0	1	0	17	50				
BEND3	57673	broad.mit.edu	37	6	107419802	107419802	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:107419802G>A	ENST00000369042.1	-	3	383	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	BEND3_ENST00000429433.2_Silent_p.L65L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	65										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGTCTAGCAGGCCATCGCTG	0.592																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(193-195)Ctg>Ttg		BEN domain containing 3							69.0	65.0	66.0					6																	107419802		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107419802G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.193C>T	6.37:g.107419802G>A						BEND3_ENST00000369042.1_Silent_p.L65L	p.L65L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			4	842	-			65					A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.193C>T	CCDS34507.1																																																																																				0.592	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		8	47	0	0	0	1	0	8	47				
TACC2	10579	broad.mit.edu	37	10	123845030	123845030	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:123845030C>T	ENST00000369005.1	+	4	3355	c.3015C>T	c.(3013-3015)agC>agT	p.S1005S	TACC2_ENST00000515603.1_Silent_p.S1005S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.S1005S|TACC2_ENST00000453444.2_Silent_p.S1005S|TACC2_ENST00000334433.3_Silent_p.S1005S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1005					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGAAGGCAGCCAGCATGAAG	0.522																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(3013-3015)agC>agT		transforming, acidic coiled-coil containing protein 2							36.0	37.0	37.0					10																	123845030		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845030C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3015C>T	10.37:g.123845030C>T						TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.S1005S|TACC2_ENST00000515603.1_Silent_p.S1005S|TACC2_ENST00000515273.1_Silent_p.S1005S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.S1005S	p.S1005S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3355	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1005					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.3015C>T	CCDS7626.1																																																																																				0.522	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			7	27	0	0	0	1	0	7	27				
EPHA1	2041	broad.mit.edu	37	7	143096376	143096376	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:143096376C>T	ENST00000275815.3	-	5	1052	c.966G>A	c.(964-966)ggG>ggA	p.G322G		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	322	Cys-rich.				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)			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)				GGGGGCCCTCCCCGGGAGCTC	0.632																																						ENST00000275815.3																			0				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						c.(964-966)ggG>ggA		EPH receptor A1							37.0	44.0	42.0					7																	143096376		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096376C>T	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.966G>A	7.37:g.143096376C>T							p.G322G	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			5	1052	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	322			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.966G>A	CCDS5884.1																																																																																				0.632	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			16	55	0	0	0	1	0	16	55				
XPC	7508	broad.mit.edu	37	3	14200166	14200166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:14200166C>T	ENST00000285021.7	-	9	1431	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	XPC_ENST00000449060.2_Missense_Mutation_p.G369E	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	406					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGCTTGTCTCCTGGGCCCTC	0.612			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1216-1218)gGa>gAa	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							144.0	133.0	137.0					3																	14200166		1568	3582	5150	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14200166C>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1217G>A	3.37:g.14200166C>T	ENSP00000285021:p.Gly406Glu					XPC_ENST00000449060.2_Missense_Mutation_p.G369E	p.G406E	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			9	1431	-			406					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.1217G>A	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	6.056	0.378652	0.11466	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.32988	1.43;1.44	4.61	-0.232	0.13082	.	1.154300	0.06357	N	0.710931	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.09377	0.004;0.004	T	0.26916	-1.0089	10	0.08837	T	0.75	-1.4044	2.5714	0.04796	0.1242:0.4748:0.1641:0.2369	.	369;406	E9PH69;Q01831	.;XPC_HUMAN	E	406;369	ENSP00000285021:G406E;ENSP00000404002:G369E	ENSP00000285021:G406E	G	-	2	0	XPC	14175170	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.295000	0.02764	0.024000	0.15214	-0.136000	0.14681	GGA		0.612	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		33	108	0	0	0	1	0	33	108				
GSTO1	9446	broad.mit.edu	37	10	106019532	106019532	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:106019532G>A	ENST00000369713.5	+	3	536	c.342G>A	c.(340-342)aaG>aaA	p.K114K	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000539281.1_Silent_p.K86K|GSTO1_ENST00000369710.4_Silent_p.K114K	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	114	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	CTTGCCAGAAGATGATCTTAG	0.428																																						ENST00000539281.1																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(256-258)aaG>aaA		glutathione S-transferase omega 1	Glutathione(DB00143)						120.0	128.0	126.0					10																	106019532		2203	4300	6503	SO:0001819	synonymous_variant	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106019532G>A	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.342G>A	10.37:g.106019532G>A						GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Silent_p.K114K|GSTO1_ENST00000369713.5_Silent_p.K114K	p.K86K	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	3	614	+		Colorectal(252;0.102)|Breast(234;0.122)	114		S -> C (in dbSNP:rs11509436).	GST N-terminal.|Glutathione binding.		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Silent	SNP	ENST00000369713.5	37	c.258G>A	CCDS7555.1																																																																																				0.428	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		26	50	0	0	0	1	0	26	50				
CCDC67	159989	broad.mit.edu	37	11	93103238	93103238	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:93103238G>A	ENST00000298050.3	+	6	532		c.e6-1			NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67						cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CTTTTTAAAAGGAATTTAGAG	0.294																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e6-1		coiled-coil domain containing 67							42.0	40.0	40.0					11																	93103238		1791	4047	5838	SO:0001630	splice_region_variant	159989							g.chr11:93103238G>A	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.433-1G>A	11.37:g.93103238G>A								NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			6	532	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)						Q8NEF1|Q96LL7	Splice_Site	SNP	ENST00000298050.3	37		CCDS44707.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928492	0.52759	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4132	0.90559	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC67	92742886	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	6.201000	0.72124	2.584000	0.87258	0.563000	0.77884	.		0.294	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645	Intron	3	7	0	0	0	1	0	3	7				
KMT2D	8085	broad.mit.edu	37	12	49444826	49444826	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:49444826C>T	ENST00000301067.7	-	10	2639	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	880	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGAACAAGGGCAGCTCCTCAG	0.637																																						ENST00000301067.7																			0											c.(2638-2640)ctG>ctA		lysine (K)-specific methyltransferase 2D							49.0	55.0	54.0					12																	49444826		1994	4180	6174	SO:0001819	synonymous_variant	8085							g.chr12:49444826C>T	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.2640G>A	12.37:g.49444826C>T							p.L880L	NM_003482.3	NP_003473.3					10	2639	-								O14687	Silent	SNP	ENST00000301067.7	37	c.2640G>A	CCDS44873.1																																																																																				0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			28	48	0	0	0	1	0	28	48				
HIRA	7290	broad.mit.edu	37	22	19393322	19393322	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:19393322C>T	ENST00000263208.5	-	5	640	c.384G>A	c.(382-384)cgG>cgA	p.R128R	HIRA_ENST00000340170.4_Silent_p.R128R|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_Silent_p.R84R|HIRA_ENST00000546308.1_Silent_p.R84R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	128					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTGAATGATTCCGGAGGATAG	0.617																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(382-384)cgG>cgA		histone cell cycle regulator							83.0	68.0	73.0					22																	19393322		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19393322C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.384G>A	22.37:g.19393322C>T						HIRA_ENST00000541063.1_Silent_p.R84R|HIRA_ENST00000340170.4_Silent_p.R128R|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000546308.1_Silent_p.R84R	p.R128R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			5	640	-	Colorectal(54;0.0993)		128					Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.384G>A	CCDS13759.1																																																																																				0.617	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		13	35	0	0	0	1	0	13	35				
SFI1	9814	broad.mit.edu	37	22	32009401	32009401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:32009401G>A	ENST00000400288.2	+	26	2732	c.2627G>A	c.(2626-2628)tGg>tAg	p.W876*	SFI1_ENST00000432498.1_Nonsense_Mutation_p.W845*|SFI1_ENST00000443326.1_Nonsense_Mutation_p.W794*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.W794*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.W821*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.W723*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.W723*	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	876					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CGGCTGCAGTGGGCGCTCCAG	0.687																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2533-2535)tGg>tAg		Sfi1 homolog, spindle assembly associated (yeast)							26.0	32.0	30.0					22																	32009401		1974	4154	6128	SO:0001587	stop_gained	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32009401G>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2627G>A	22.37:g.32009401G>A	ENSP00000383145:p.Trp876*					SFI1_ENST00000443326.1_Nonsense_Mutation_p.W794*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.W723*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.W723*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.W821*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.W794*|SFI1_ENST00000400288.2_Nonsense_Mutation_p.W876*	p.W845*	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			25	2927	+			876					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Nonsense_Mutation	SNP	ENST00000400288.2	37	c.2534G>A	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245065	0.59103	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	.	.	.	5.42	-6.25	0.02039	.	0.957838	0.08753	N	0.898848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	14.4524	0.67394	0.7198:0.0:0.2802:0.0	.	.	.	.	X	845;821;794;723;723;794;876;459	.	ENSP00000383145:W876X	W	+	2	0	SFI1	30339401	0.000000	0.05858	0.041000	0.18516	0.003000	0.03518	-1.895000	0.01606	-0.935000	0.03728	-1.008000	0.02478	TGG		0.687	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		4	26	0	0	0	1	0	4	26				
POLR2J4	84820	broad.mit.edu	37	7	44012263	44012263	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44012263G>A	ENST00000427076.1	-	0	1035				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		CCCTTGTAAGGCAGACCTTTC	0.597																																						ENST00000427076.1																			0																																																			0							g.chr7:44012263G>A			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44012263G>A								NR_003655.2						0	1035	-									RNA	SNP	ENST00000427076.1	37																																																																																						0.597	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		6	21	0	0	0	1	0	6	21				
KANK2	25959	broad.mit.edu	37	19	11304063	11304063	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11304063C>T	ENST00000586659.1	-	4	1007	c.693G>A	c.(691-693)aaG>aaA	p.K231K	KANK2_ENST00000355150.5_Silent_p.K231K|KANK2_ENST00000432929.2_Silent_p.K231K|KANK2_ENST00000589894.1_Silent_p.K231K|KANK2_ENST00000589359.1_Silent_p.K231K			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	231					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACTTCTGGCTCTTAAGTTGTA	0.647																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(691-693)aaG>aaA		KN motif and ankyrin repeat domains 2							25.0	27.0	26.0					19																	11304063		2194	4251	6445	SO:0001819	synonymous_variant	25959							g.chr19:11304063C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.693G>A	19.37:g.11304063C>T						KANK2_ENST00000589359.1_Silent_p.K231K|KANK2_ENST00000589894.1_Silent_p.K231K|KANK2_ENST00000355150.5_Silent_p.K231K|KANK2_ENST00000586659.1_Silent_p.K231K	p.K231K	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	1053	-			231					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.693G>A	CCDS12255.1																																																																																				0.647	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		10	36	0	0	0	1	0	10	36				
ARGFX	503582	broad.mit.edu	37	3	121289576	121289576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:121289576G>A	ENST00000334384.3	+	1	26	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GAACAGAATGGCCCCAGAGAA	0.458																																						ENST00000334384.3																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(16-18)Gcc>Acc		arginine-fifty homeobox							82.0	82.0	82.0					3																	121289576		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121289576G>A		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.16G>A	3.37:g.121289576G>A	ENSP00000335578:p.Ala6Thr						p.A6T	NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	1	26	+			6						Missense_Mutation	SNP	ENST00000334384.3	37	c.16G>A	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	G	5.240	0.229765	0.09916	.	.	ENSG00000186103	ENST00000334384	D	0.89875	-2.58	2.83	-1.8	0.07907	.	1.159280	0.06714	N	0.773800	T	0.81758	0.4890	L	0.38175	1.15	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.64782	-0.6326	10	0.38643	T	0.18	0.1098	6.7765	0.23622	0.6332:0.0:0.3668:0.0	.	6	A6NJG6	ARGFX_HUMAN	T	6	ENSP00000335578:A6T	ENSP00000335578:A6T	A	+	1	0	ARGFX	122772266	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.336000	0.07863	-0.457000	0.07033	-0.312000	0.09012	GCC		0.458	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		5	83	0	0	0	1	0	5	83				
ZNF37A	7587	broad.mit.edu	37	10	38403727	38403727	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:38403727G>A	ENST00000361085.5	+	5	405	c.60G>A	c.(58-60)gaG>gaA	p.E20E	ZNF37A_ENST00000351773.3_Silent_p.E20E|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	20	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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TCACTCAAGAGGAGTGGCAGC	0.478																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(58-60)gaG>gaA		zinc finger protein 37A							137.0	126.0	130.0					10																	38403727		2203	4300	6503	SO:0001819	synonymous_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38403727G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.60G>A	10.37:g.38403727G>A						ZNF37A_ENST00000361085.4_Silent_p.E20E|ZNF37A_ENST00000479469.1_3'UTR	p.E20E	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			6	890	+			20			KRAB.		B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.60G>A	CCDS31183.1																																																																																				0.478	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		8	126	0	0	0	1	0	8	126				
CMC4	100272147	broad.mit.edu	37	X	154290238	154290238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:154290238C>A	ENST00000369484.3	-	3	765	c.87G>T	c.(85-87)caG>caT	p.Q29H	MTCP1_ENST00000482244.1_5'Flank|CMC4_ENST00000369479.1_Missense_Mutation_p.Q29H	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	29					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											GGATGACAGCCTGACACTTTG	0.438																																						ENST00000369484.3																			0											c.(85-87)caG>caT		C-x(9)-C motif containing 4							165.0	134.0	144.0					X																	154290238		2203	4300	6503	SO:0001583	missense	100272147							g.chrX:154290238C>A		CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.87G>T	X.37:g.154290238C>A	ENSP00000358496:p.Gln29His					CMC4_ENST00000369479.1_Missense_Mutation_p.Q29H	p.Q29H	NM_001018024.2	NP_001018024.1					3	765	-								Q5HYP9	Missense_Mutation	SNP	ENST00000369484.3	37	c.87G>T	CCDS14764.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775987	0.70107	.	.	ENSG00000182712	ENST00000369484;ENST00000369479	.	.	.	5.51	4.65	0.58169	.	0.174794	0.22302	U	0.061845	T	0.61388	0.2343	.	.	.	0.80722	D	1	P	0.42123	0.771	P	0.48738	0.588	T	0.63143	-0.6703	8	0.66056	D	0.02	-5.755	7.949	0.30003	0.0:0.8083:0.0:0.1917	.	29	P56277	MTCNB_HUMAN	H	29	.	ENSP00000358491:Q29H	Q	-	3	2	MTCP1NB	153943432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.529000	0.35996	1.224000	0.43551	0.600000	0.82982	CAG		0.438	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2	NM_001018024.2		41	66	1	0	3.61848e-18	1	3.63834e-18	41	66				
SH2D6	284948	broad.mit.edu	37	2	85663643	85663643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:85663643C>T	ENST00000340326.2	+	4	627	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F	SH2D6_ENST00000389938.2_Missense_Mutation_p.L124F|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	156	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						CCCTCTGCCCCTTGTGGACAG	0.632																																						ENST00000389938.2																			0				central_nervous_system(1)|lung(2)	3						c.(370-372)Ctt>Ttt		SH2 domain containing 6							76.0	65.0	68.0					2																	85663643		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85663643C>T	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.466C>T	2.37:g.85663643C>T	ENSP00000341867:p.Leu156Phe					SH2D6_ENST00000340326.2_Missense_Mutation_p.L156F|SH2D6_ENST00000481426.2_3'UTR	p.L124F			Q7Z4S9	SH2D6_HUMAN			20	1684	+			156			SH2.		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.370C>T	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841590	0.71488	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D	0.94613	-3.47	5.25	4.36	0.52297	SH2 motif (2);	0.000000	0.53938	D	0.000054	D	0.97185	0.9080	M	0.87381	2.88	0.26462	N	0.975436	D	0.76494	0.999	D	0.85130	0.997	D	0.92626	0.6112	10	0.87932	D	0	-19.6075	12.1322	0.53950	0.0:0.8272:0.1728:0.0	.	156	Q7Z4S9	SH2D6_HUMAN	F	124;156	ENSP00000341867:L156F	ENSP00000341867:L156F	L	+	1	0	SH2D6	85517154	0.918000	0.31147	0.097000	0.21041	0.869000	0.49853	3.931000	0.56529	1.345000	0.45676	0.561000	0.74099	CTT		0.632	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		3	43	0	0	0	1	0	3	43				
GTSE1	51512	broad.mit.edu	37	22	46725420	46725420	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46725420G>A	ENST00000454366.1	+	11	2304	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	679					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAACACTCCAGACATGAATAA	0.527																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(2092-2094)Gac>Aac		G-2 and S-phase expressed 1							104.0	93.0	97.0					22																	46725420		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46725420G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2092G>A	22.37:g.46725420G>A	ENSP00000415430:p.Asp698Asn						p.D698N	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	11	2304	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	679					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.2092G>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	9.903	1.207318	0.22205	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.09163	3.01	4.91	3.87	0.44632	.	0.257753	0.43416	N	0.000565	T	0.08492	0.0211	L	0.34521	1.04	0.39943	D	0.974437	B	0.27882	0.192	B	0.23018	0.043	T	0.18903	-1.0322	10	0.44086	T	0.13	-11.8598	9.8846	0.41253	0.0976:0.0:0.9024:0.0	.	679	Q9NYZ3	GTSE1_HUMAN	N	698;658	ENSP00000415430:D698N	ENSP00000354634:D658N	D	+	1	0	GTSE1	45104084	0.831000	0.29352	0.237000	0.24090	0.083000	0.17756	2.585000	0.46111	1.153000	0.42468	0.655000	0.94253	GAC		0.527	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		4	87	0	0	0	1	0	4	87				
CYP1A1	1543	broad.mit.edu	37	15	75014924	75014924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75014924C>T	ENST00000379727.3	-	2	713	c.515G>A	c.(514-516)aGc>aAc	p.S172N	CYP1A1_ENST00000395049.4_Missense_Mutation_p.S172N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S172N|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S172N|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	172					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)			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)	CTGCAACGTGCTTATCAGGAC	0.542									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				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						c.(514-516)aGc>aAc		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						82.0	77.0	78.0					15																	75014924		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014924C>T	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.515G>A	15.37:g.75014924C>T	ENSP00000369050:p.Ser172Asn					CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S172N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S172N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S172N	p.S172N			P04798	CP1A1_HUMAN			2	713	-			172					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.515G>A	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	5.460	0.270036	0.10349	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.68479	-0.33;-0.33;-0.33	4.91	0.32	0.15878	.	1.149870	0.05888	N	0.627718	T	0.57110	0.2031	L	0.52573	1.65	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.21151	0.033;0.006	T	0.41413	-0.9510	10	0.37606	T	0.19	.	2.9921	0.05987	0.1106:0.4453:0.1203:0.3238	.	172;172	E7EMT5;P04798	.;CP1A1_HUMAN	N	172	ENSP00000369050:S172N;ENSP00000378488:S172N;ENSP00000378489:S172N	ENSP00000268062:S172N	S	-	2	0	CYP1A1	72801977	0.000000	0.05858	0.156000	0.22583	0.484000	0.33280	-0.965000	0.03829	0.142000	0.18901	0.462000	0.41574	AGC		0.542	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		26	35	0	0	0	1	0	26	35				
ZNF44	51710	broad.mit.edu	37	19	12386823	12386823	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12386823C>T	ENST00000356109.5	-	3	340	c.222G>A	c.(220-222)aaG>aaA	p.K74K	ZNF44_ENST00000355684.5_Silent_p.K26K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGTAGAGATTCTTCTGTGATG	0.438																																						ENST00000356109.5																			0				ovary(1)	1						c.(220-222)aaG>aaA		zinc finger protein 44							169.0	178.0	175.0					19																	12386823		2203	4300	6503	SO:0001819	synonymous_variant	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12386823C>T	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.222G>A	19.37:g.12386823C>T						ZNF44_ENST00000355684.5_Silent_p.K26K	p.K74K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	3	340	-		Renal(1328;0.157)	74			KRAB.		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Silent	SNP	ENST00000356109.5	37	c.222G>A	CCDS54223.1																																																																																				0.438	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		13	232	0	0	0	1	0	13	232				
PCNXL4	64430	broad.mit.edu	37	14	60574954	60574954	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:60574954G>A	ENST00000406854.1	+	2	1152	c.598G>A	c.(598-600)Gcg>Acg	p.A200T	PCNXL4_ENST00000391611.2_Missense_Mutation_p.A200T|PCNXL4_ENST00000404681.2_Missense_Mutation_p.A200T|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	200						integral component of membrane (GO:0016021)											TACAGAGACTGCGACTTTCCA	0.373																																						ENST00000406854.1																			0											c.(598-600)Gcg>Acg		pecanex-like 4 (Drosophila)							121.0	128.0	126.0					14																	60574954		876	1991	2867	SO:0001583	missense	64430							g.chr14:60574954G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.598G>A	14.37:g.60574954G>A	ENSP00000384801:p.Ala200Thr					PCNXL4_ENST00000404681.2_Missense_Mutation_p.A200T|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000391611.2_Missense_Mutation_p.A200T	p.A200T							2	1152	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.598G>A		.	.	.	.	.	.	.	.	.	.	G	29.6	5.020425	0.93462	.	.	ENSG00000126773	ENST00000391611;ENST00000406854;ENST00000404681	T;T	0.38240	1.15;1.15	5.39	5.39	0.77823	.	0.379473	0.08080	U	1.000000	T	0.61198	0.2328	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57254	-0.7843	7	0.87932	D	0	.	19.1598	0.93526	0.0:0.0:1.0:0.0	.	.	.	.	T	200	ENSP00000384801:A200T;ENSP00000385713:A200T	ENSP00000375469:A200T	A	+	1	0	C14orf135	59644707	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.530000	0.85305	0.655000	0.94253	GCG		0.373	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		18	60	0	0	0	1	0	18	60				
SRBD1	55133	broad.mit.edu	37	2	45829117	45829117	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:45829117C>T	ENST00000263736.4	-	3	248	c.186G>A	c.(184-186)aaG>aaA	p.K62K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	62					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAGGCATCCTCTTTGGTTTGG	0.522																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(184-186)aaG>aaA		S1 RNA binding domain 1							187.0	186.0	186.0					2																	45829117		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45829117C>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.186G>A	2.37:g.45829117C>T							p.K62K	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		3	248	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	62					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.186G>A	CCDS1823.1																																																																																				0.522	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		12	125	0	0	0	1	0	12	125				
LLPH	84298	broad.mit.edu	37	12	66517731	66517731	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:66517731G>A	ENST00000266604.2	-	3	349	c.279C>T	c.(277-279)taC>taT	p.Y93Y	TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|LLPH_ENST00000446587.2_Silent_p.Y93Y	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	93	Lys-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCCATATTGGGTACTGTCCAT	0.388																																						ENST00000266604.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(277-279)taC>taT		LLP homolog, long-term synaptic facilitation (Aplysia)							108.0	96.0	100.0					12																	66517731		2202	4300	6502	SO:0001819	synonymous_variant	84298							g.chr12:66517731G>A	AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"""human LAPS18-like protein"""		"""chromosome 12 open reading frame 31"""	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.279C>T	12.37:g.66517731G>A						LLPH_ENST00000446587.2_Silent_p.Y93Y|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR	p.Y93Y	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN			3	349	-			93			Lys-rich.		Q3B766	Silent	SNP	ENST00000266604.2	37	c.279C>T	CCDS8974.1																																																																																				0.388	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401752.1	NM_032338		7	108	0	0	0	1	0	7	108				
SEC61A1	29927	broad.mit.edu	37	3	127774521	127774521	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:127774521C>T	ENST00000243253.3	+	4	331	c.147C>T	c.(145-147)ccC>ccT	p.P49P	SEC61A1_ENST00000464451.1_Silent_p.P55P|SEC61A1_ENST00000424880.2_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	49					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CCCAGATTCCCCTGTTTGGGA	0.483																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(145-147)ccC>ccT		Sec61 alpha 1 subunit (S. cerevisiae)							200.0	181.0	188.0					3																	127774521		2203	4300	6503	SO:0001819	synonymous_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127774521C>T	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.147C>T	3.37:g.127774521C>T						SEC61A1_ENST00000464451.1_Silent_p.P55P|SEC61A1_ENST00000424880.2_Intron	p.P49P	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			4	331	+			49					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	c.147C>T	CCDS3046.1																																																																																				0.483	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		51	105	0	0	0	1	0	51	105				
PPP2R3A	5523	broad.mit.edu	37	3	135721939	135721939	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:135721939G>A	ENST00000264977.3	+	2	2216	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	533					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTTGCGAAGGGTAAAAACT	0.378																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1597-1599)aaG>aaA		protein phosphatase 2, regulatory subunit B'', alpha							51.0	54.0	53.0					3																	135721939		2198	4298	6496	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721939G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1599G>A	3.37:g.135721939G>A						PPP2R3A_ENST00000490467.1_Intron	p.K533K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2216	+			533					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.1599G>A	CCDS3087.1																																																																																				0.378	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		8	47	0	0	0	1	0	8	47				
TPBG	7162	broad.mit.edu	37	6	83075360	83075360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:83075360G>A	ENST00000369750.3	+	2	1299	c.682G>A	c.(682-684)Gat>Aat	p.D228N	TPBG_ENST00000535040.1_Missense_Mutation_p.D228N|TPBG_ENST00000543496.1_Missense_Mutation_p.D228N			Q13641	TPBG_HUMAN	trophoblast glycoprotein	228					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				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)		CCTGCCGCGGGATGTGCTGGC	0.627																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(682-684)Gat>Aat		trophoblast glycoprotein							58.0	65.0	62.0					6																	83075360		2203	4300	6503	SO:0001583	missense	7162				cell adhesion	integral to plasma membrane		g.chr6:83075360G>A	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.682G>A	6.37:g.83075360G>A	ENSP00000358765:p.Asp228Asn					TPBG_ENST00000543496.1_Missense_Mutation_p.D228N|TPBG_ENST00000535040.1_Missense_Mutation_p.D228N	p.D228N			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	1299	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	228					A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	c.682G>A	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	G	0.876	-0.730381	0.03135	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.58210	0.35;0.35;0.35	5.97	3.24	0.37175	.	0.913485	0.09463	N	0.798769	T	0.17619	0.0423	L	0.31207	0.915	0.09310	N	1	B	0.22909	0.077	B	0.19148	0.024	T	0.26467	-1.0102	10	0.24483	T	0.36	-14.3528	7.8108	0.29230	0.1911:0.1176:0.6912:0.0	.	228	Q13641	TPBG_HUMAN	N	228	ENSP00000441219:D228N;ENSP00000358765:D228N;ENSP00000440049:D228N	ENSP00000358765:D228N	D	+	1	0	TPBG	83132079	0.176000	0.23096	0.056000	0.19401	0.003000	0.03518	2.292000	0.43549	0.419000	0.25927	-0.793000	0.03317	GAT		0.627	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			11	108	0	0	0	1	0	11	108				
PAPOLB	56903	broad.mit.edu	37	7	4899680	4899680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4899680C>T	ENST00000404991.1	-	1	1945	c.1759G>A	c.(1759-1761)Gtt>Att	p.V587I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	587					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TTTAATGCAACCCCTGAACTT	0.453																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1759-1761)Gtt>Att		poly(A) polymerase beta (testis specific)							99.0	101.0	101.0					7																	4899680		2107	4257	6364	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899680C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1759G>A	7.37:g.4899680C>T	ENSP00000384700:p.Val587Ile					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.V587I	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1945	-		Ovarian(82;0.0175)	587					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1759G>A		.	.	.	.	.	.	.	.	.	.	C	0.096	-1.159549	0.01686	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.48	-0.546	0.11840	.	.	.	.	.	T	0.12902	0.0313	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26744	-1.0094	8	0.22109	T	0.4	.	3.5201	0.07739	0.1729:0.4303:0.0:0.3968	.	588	A4D1Z6	.	I	587	.	ENSP00000384700:V587I	V	-	1	0	PAPOLB	4866206	0.005000	0.15991	0.001000	0.08648	0.119000	0.20118	-0.074000	0.11450	-0.102000	0.12197	0.591000	0.81541	GTT		0.453	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		4	98	0	0	0	1	0	4	98				
COPA	1314	broad.mit.edu	37	1	160262978	160262978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:160262978C>T	ENST00000241704.7	-	27	3030	c.2801G>A	c.(2800-2802)gGc>gAc	p.G934D	COPA_ENST00000368069.3_Missense_Mutation_p.G943D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	934					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCGAAAGAGCCTGCCAGGAT	0.463																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(2800-2802)gGc>gAc		coatomer protein complex, subunit alpha							92.0	96.0	94.0					1																	160262978		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160262978C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2801G>A	1.37:g.160262978C>T	ENSP00000241704:p.Gly934Asp					COPA_ENST00000368069.3_Missense_Mutation_p.G943D	p.G934D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		27	3030	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		934					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.2801G>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252838	0.95336	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.68025	-0.3;-0.3	5.34	5.34	0.76211	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85873	0.5798	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88594	0.3145	10	0.87932	D	0	-17.8541	18.1326	0.89606	0.0:1.0:0.0:0.0	.	934;943	P53621;P53621-2	COPA_HUMAN;.	D	943;934	ENSP00000357048:G943D;ENSP00000241704:G934D	ENSP00000241704:G934D	G	-	2	0	COPA	158529602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.090000	0.76916	2.937000	0.99478	0.650000	0.86243	GGC		0.463	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		5	122	0	0	0	1	0	5	122				
PHKA2	5256	broad.mit.edu	37	X	19001985	19001985	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:19001985G>A	ENST00000379942.4	-	1	731	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	22					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGTAACACAGGATGGTTTGCT	0.637																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(64-66)atC>atT		phosphorylase kinase, alpha 2 (liver)							92.0	73.0	80.0					X																	19001985		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:19001985G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.66C>T	X.37:g.19001985G>A							p.I22I	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			1	731	-	Hepatocellular(33;0.183)		22					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.66C>T	CCDS14190.1																																																																																				0.637	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		30	38	0	0	0	1	0	30	38				
RFESD	317671	broad.mit.edu	37	5	94990061	94990061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:94990061G>A	ENST00000311364.4	+	4	1617	c.200G>A	c.(199-201)gGa>gAa	p.G67E	RFESD_ENST00000458310.1_Missense_Mutation_p.G120E|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000380005.4_Missense_Mutation_p.G120E|RFESD_ENST00000513950.2_Intron	NM_173362.3	NP_775498.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	67	Rieske 1. {ECO:0000255|PROSITE- ProRule:PRU00628}.|Rieske 2. {ECO:0000255|PROSITE- ProRule:PRU00628}.						2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		TTACATTTGGGAGATATAGAG	0.254																																						ENST00000458310.1																			0				autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6						c.(358-360)gGa>gAa		Rieske (Fe-S) domain containing							56.0	62.0	60.0					5																	94990061		2188	4289	6477	SO:0001583	missense	317671						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity	g.chr5:94990061G>A	BC035110	CCDS4075.1, CCDS47248.1	5q15	2010-12-07			ENSG00000175449	ENSG00000175449			29587	protein-coding gene	gene with protein product						12477932	Standard	NM_173362		Approved		uc003klg.3	Q8TAC1	OTTHUMG00000121168	ENST00000311364.4:c.200G>A	5.37:g.94990061G>A	ENSP00000309229:p.Gly67Glu					RFESD_ENST00000513950.2_Intron|RFESD_ENST00000311364.4_Missense_Mutation_p.G67E|RFESD_ENST00000380005.4_Missense_Mutation_p.G120E|SPATA9_ENST00000477047.2_Intron	p.G120E	NM_001131065.1	NP_001124537.1	Q8TAC1	RFESD_HUMAN		all cancers(79;5.94e-17)	5	1690	+		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)	67			Rieske 2.		J3KPH1	Missense_Mutation	SNP	ENST00000311364.4	37	c.359G>A	CCDS4075.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740794	0.89573	.	.	ENSG00000175449	ENST00000511684;ENST00000380005;ENST00000311364;ENST00000458310	.	.	.	5.74	5.74	0.90152	Rieske [2Fe-2S] iron-sulphur domain (4);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90427	0.4421	9	0.87932	D	0	-22.8492	19.5184	0.95174	0.0:0.0:1.0:0.0	.	67;67	D6RBY0;Q8TAC1	.;RFESD_HUMAN	E	67;120;67;120	.	ENSP00000309229:G67E	G	+	2	0	RFESD	95015817	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.820000	0.62671	2.712000	0.92718	0.563000	0.77884	GGA		0.254	RFESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241654.1	NM_173362		23	40	0	0	0	1	0	23	40				
BCLAF1	9774	broad.mit.edu	37	6	136596816	136596816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:136596816C>T	ENST00000531224.1	-	6	1958	c.1706G>A	c.(1705-1707)aGg>aAg	p.R569K	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R567K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R396K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R567K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R569K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R567K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	569					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGCAAGCAGCCTGTCTTTAGT	0.393																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1705-1707)aGg>aAg		BCL2-associated transcription factor 1							144.0	134.0	138.0					6																	136596816		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136596816C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1706G>A	6.37:g.136596816C>T	ENSP00000435210:p.Arg569Lys					BCLAF1_ENST00000392348.2_Missense_Mutation_p.R567K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R569K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R567K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R396K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R567K	p.R569K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	6	1958	-	Colorectal(23;0.24)		569					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1706G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667048	0.88251	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.48295	0.1492	M	0.64997	1.995	0.80722	D	1	P;D;P;P	0.64830	0.947;0.994;0.947;0.902	P;D;P;P	0.73708	0.908;0.981;0.908;0.87	T	0.34030	-0.9845	10	0.51188	T	0.08	-8.8662	19.9989	0.97403	0.0:1.0:0.0:0.0	.	567;567;569;396	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	K	569;567;569;396;567;567;569	ENSP00000435210:R569K;ENSP00000229446:R567K;ENSP00000435441:R569K;ENSP00000436501:R396K;ENSP00000434826:R567K;ENSP00000376159:R567K;ENSP00000431734:R569K	ENSP00000229446:R567K	R	-	2	0	BCLAF1	136638509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.641000	0.74324	2.805000	0.96524	0.460000	0.39030	AGG		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		4	159	0	0	0	1	0	4	159				
BHLHE40	8553	broad.mit.edu	37	3	5025316	5025316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:5025316C>T	ENST00000256495.3	+	5	1781	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	393					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						TCCGTCGACTCTTCTGTCTTG	0.532																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(1177-1179)tCt>tTt		basic helix-loop-helix family, member e40							115.0	120.0	119.0					3																	5025316		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025316C>T	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1178C>T	3.37:g.5025316C>T	ENSP00000256495:p.Ser393Phe						p.S393F	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1781	+			393					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.1178C>T	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171156	0.78452	.	.	ENSG00000134107	ENST00000256495	T	0.56444	0.46	5.51	5.51	0.81932	.	0.051332	0.85682	D	0.000000	T	0.73140	0.3549	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.75587	-0.3266	10	0.87932	D	0	-5.921	19.0124	0.92879	0.0:1.0:0.0:0.0	.	393	O14503	BHE40_HUMAN	F	393	ENSP00000256495:S393F	ENSP00000256495:S393F	S	+	2	0	BHLHE40	5000316	1.000000	0.71417	0.991000	0.47740	0.708000	0.40852	7.237000	0.78164	2.589000	0.87451	0.655000	0.94253	TCT		0.532	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		6	100	0	0	0	1	0	6	100				
ARHGEF40	55701	broad.mit.edu	37	14	21553048	21553048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21553048G>A	ENST00000298694.4	+	18	4053	c.3926G>A	c.(3925-3927)gGg>gAg	p.G1309E	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.G1309E			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1309	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCTGAAGGGGGGTCAGAGATG	0.512																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(3925-3927)gGg>gAg		Rho guanine nucleotide exchange factor (GEF) 40							129.0	131.0	131.0					14																	21553048		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21553048G>A		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.3926G>A	14.37:g.21553048G>A	ENSP00000298694:p.Gly1309Glu					ARHGEF40_ENST00000298693.3_Missense_Mutation_p.G1309E	p.G1309E			Q8TER5	ARH40_HUMAN			18	4053	+			1309			PH.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.3926G>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068088	0.55539	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.12569	2.67;2.67	5.65	4.73	0.59995	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.259259	0.27654	N	0.018406	T	0.42630	0.1211	M	0.86651	2.83	0.43342	D	0.995391	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.79784	0.993;0.96;0.982	T	0.50516	-0.8819	10	0.72032	D	0.01	.	14.1531	0.65401	0.0:0.1513:0.8487:0.0	.	1309;1309;595	Q8TER5-4;Q8TER5;Q8TER5-2	.;ARH40_HUMAN;.	E	1309	ENSP00000298694:G1309E;ENSP00000298693:G1309E	ENSP00000298693:G1309E	G	+	2	0	ARHGEF40	20622888	1.000000	0.71417	0.021000	0.16686	0.163000	0.22366	5.276000	0.65580	1.335000	0.45486	0.655000	0.94253	GGG		0.512	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			6	138	0	0	0	1	0	6	138				
PDE4A	5141	broad.mit.edu	37	19	10578067	10578067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10578067C>T	ENST00000352831.6	+	15	2541	c.2431C>T	c.(2431-2433)Ccc>Tcc	p.P811S	PDE4A_ENST00000380702.2_Missense_Mutation_p.P789S|PDE4A_ENST00000592685.1_Missense_Mutation_p.P789S|PDE4A_ENST00000344979.3_Missense_Mutation_p.P572S|PDE4A_ENST00000293683.5_Missense_Mutation_p.P785S|PDE4A_ENST00000440014.2_Missense_Mutation_p.P750S	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	811					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CCACAGCAGCCCCTCTGCCCT	0.637																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2365-2367)Ccc>Tcc		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						82.0	81.0	81.0					19																	10578067		2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578067C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2431C>T	19.37:g.10578067C>T	ENSP00000270474:p.Pro811Ser					PDE4A_ENST00000592685.1_Missense_Mutation_p.P789S|PDE4A_ENST00000352831.6_Missense_Mutation_p.P811S|PDE4A_ENST00000344979.3_Missense_Mutation_p.P572S|PDE4A_ENST00000293683.5_Missense_Mutation_p.P785S|PDE4A_ENST00000440014.2_Missense_Mutation_p.P750S	p.P789S			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	2365	+			811					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.2365C>T	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	c	8.136	0.784080	0.16189	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.75050	-0.81;-0.83;-0.9;-0.83;-0.65	2.94	-0.684	0.11331	.	8.316520	0.00628	N	0.000463	T	0.55273	0.1910	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.34015	0.001;0.435;0.302;0.09	B;B;B;B	0.32465	0.003;0.146;0.074;0.024	T	0.49588	-0.8924	10	0.52906	T	0.07	.	1.4617	0.02397	0.2211:0.431:0.2159:0.132	.	572;750;785;811	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	S	789;811;785;750;572	ENSP00000370078:P789S;ENSP00000270474:P811S;ENSP00000293683:P785S;ENSP00000394754:P750S;ENSP00000341007:P572S	ENSP00000293683:P785S	P	+	1	0	PDE4A	10439067	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.714000	0.01881	-0.021000	0.14009	0.479000	0.44913	CCC		0.637	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			20	108	0	0	0	1	0	20	108				
KRT4	3851	broad.mit.edu	37	12	53207481	53207481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:53207481G>A	ENST00000551956.1	-	1	854	c.362C>T	c.(361-363)cCc>cTc	p.P121L	KRT4_ENST00000293774.4_Missense_Mutation_p.P195L|KRT4_ENST00000458244.2_Missense_Mutation_p.P101L			P19013	K2C4_HUMAN	keratin 4	135	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CACGTGGAGGGGGGTGAGCAA	0.582																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(583-585)cCc>cTc		keratin 4																																				SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207481G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.362C>T	12.37:g.53207481G>A	ENSP00000448220:p.Pro121Leu					KRT4_ENST00000551956.1_Missense_Mutation_p.P121L|KRT4_ENST00000458244.2_Missense_Mutation_p.P101L	p.P195L			B4DRS2	B4DRS2_HUMAN			1	854	-			121					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.584C>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869228	0.91587	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.75589	-0.95;-0.95;-0.95	4.88	4.88	0.63580	.	0.000000	0.46145	D	0.000316	D	0.90356	0.6982	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92896	0.6335	10	0.87932	D	0	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	135	P19013	K2C4_HUMAN	L	121;195;101	ENSP00000448220:P121L;ENSP00000293774:P195L;ENSP00000387904:P101L	ENSP00000293774:P195L	P	-	2	0	KRT4	51493748	1.000000	0.71417	0.991000	0.47740	0.915000	0.54546	7.652000	0.83633	2.636000	0.89361	0.585000	0.79938	CCC		0.582	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		15	95	0	0	0	1	0	15	95				
DEPDC5	9681	broad.mit.edu	37	22	32229949	32229949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:32229949C>T	ENST00000382112.3	+	24	2223	c.2153C>T	c.(2152-2154)tCt>tTt	p.S718F	DEPDC5_ENST00000382105.2_Missense_Mutation_p.S640F|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S718F|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S718F|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S718F|DEPDC5_ENST00000400246.1_Missense_Mutation_p.S718F|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S718F|DEPDC5_ENST00000536766.1_Missense_Mutation_p.S612F|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S640F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	718					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GACAGTGTTTCTACCTCTCCA	0.493																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2152-2154)tCt>tTt		DEP domain containing 5							216.0	205.0	209.0					22																	32229949		1894	4115	6009	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32229949C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2153C>T	22.37:g.32229949C>T	ENSP00000371546:p.Ser718Phe					DEPDC5_ENST00000266091.3_Missense_Mutation_p.S718F|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S718F|DEPDC5_ENST00000536766.1_Missense_Mutation_p.S612F|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S640F|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S718F|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S718F|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S718F|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S640F	p.S718F			O75140	DEPD5_HUMAN			25	2295	+			718					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2153C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974258	0.53720	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T	0.52754	1.4;0.65;1.69;1.79;1.68;1.36;1.8;1.68;1.79	5.55	5.55	0.83447	.	0.276761	0.36482	N	0.002567	T	0.61800	0.2376	L	0.48642	1.525	0.80722	D	1	D;P;D;P;P;P;P	0.64830	0.994;0.813;0.965;0.833;0.73;0.813;0.454	D;B;P;B;B;B;B	0.66351	0.943;0.169;0.804;0.352;0.178;0.169;0.034	T	0.62501	-0.6841	10	0.62326	D	0.03	.	16.6573	0.85232	0.0:1.0:0.0:0.0	.	39;718;612;640;718;718;718	B4DSS1;B9EGN9;F5GYZ8;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;.;DEPD5_HUMAN	F	640;612;718;718;649;718;640;718;718;718	ENSP00000440210:S640F;ENSP00000441358:S612F;ENSP00000266091:S718F;ENSP00000383108:S718F;ENSP00000383105:S718F;ENSP00000371539:S640F;ENSP00000371546:S718F;ENSP00000371545:S718F;ENSP00000383107:S718F	ENSP00000266091:S718F	S	+	2	0	DEPDC5	30559949	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.642000	0.61383	2.605000	0.88082	0.544000	0.68410	TCT		0.493	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		85	205	0	0	0	1	0	85	205				
GON4L	54856	broad.mit.edu	37	1	155740897	155740897	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155740897C>T	ENST00000368331.1	-	19	2655	c.2607G>A	c.(2605-2607)aaG>aaA	p.K869K	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.K869K|GON4L_ENST00000361040.5_Silent_p.K869K|GON4L_ENST00000271883.5_Silent_p.K869K	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	869					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTTGAGGTTCTTGATTCTCA	0.438																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(2605-2607)aaG>aaA		gon-4-like (C. elegans)							283.0	236.0	252.0					1																	155740897		2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155740897C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2607G>A	1.37:g.155740897C>T						GON4L_ENST00000361040.5_Silent_p.K869K|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.K869K|GON4L_ENST00000271883.5_Silent_p.K869K	p.K869K			Q3T8J9	GON4L_HUMAN			19	2729	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		869					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.2607G>A																																																																																					0.438	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		18	112	0	0	0	1	0	18	112				
TTN	7273	broad.mit.edu	37	2	179583322	179583322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179583322C>T	ENST00000591111.1	-	83	23784	c.23560G>A	c.(23560-23562)Gcc>Acc	p.A7854T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A8171T|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6927T			Q8WZ42	TITIN_HUMAN	titin	12042	Ig-like 61.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAAGGTGGCTGGTTCTATA	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(24511-24513)Gcc>Acc		titin							52.0	49.0	50.0					2																	179583322		1857	4120	5977	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583322C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23560G>A	2.37:g.179583322C>T	ENSP00000465570:p.Ala7854Thr					TTN_ENST00000591111.1_Missense_Mutation_p.A7854T|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6927T|TTN-AS1_ENST00000585451.1_RNA	p.A8171T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		85	24735	-			7854			Ig-like 64.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24511G>A		.	.	.	.	.	.	.	.	.	.	C	13.09	2.134452	0.37630	.	.	ENSG00000155657	ENST00000342992	T	0.41065	1.01	6.16	6.16	0.99307	Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71829	0.3386	M	0.87328	2.875	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.74340	-0.3697	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7854	Q8WZ42	TITIN_HUMAN	T	6927	ENSP00000343764:A6927T	ENSP00000343764:A6927T	A	-	1	0	TTN	179291567	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.513000	0.45494	2.937000	0.99478	0.650000	0.86243	GCC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	34	0	0	0	1	0	9	34				
RGAG1	57529	broad.mit.edu	37	X	109697344	109697344	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:109697344G>A	ENST00000465301.2	+	3	3745	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K	RGAG1_ENST00000540313.1_Missense_Mutation_p.E1167K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1167								p.E1167*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTGGAGGAAGAGATGGAGAT	0.512																																						ENST00000465301.2																			1	Substitution - Nonsense(1)	p.E1167*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(3499-3501)Gag>Aag		retrotransposon gag domain containing 1							100.0	93.0	96.0					X																	109697344		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109697344G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3499G>A	X.37:g.109697344G>A	ENSP00000419786:p.Glu1167Lys					RGAG1_ENST00000540313.1_Missense_Mutation_p.E1167K	p.E1167K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	3745	+			1167					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.3499G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288497	0.59976	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.49720	0.77;0.77	4.02	4.02	0.46733	.	0.000000	0.37483	N	0.002070	T	0.51568	0.1682	L	0.27053	0.805	0.28370	N	0.92006	D	0.76494	0.999	D	0.83275	0.996	T	0.39663	-0.9603	9	.	.	.	-6.8423	10.5265	0.44952	0.0:0.0:1.0:0.0	.	1167	Q8NET4	RGAG1_HUMAN	K	1167;1167;728	ENSP00000419786:E1167K;ENSP00000441452:E1167K	.	E	+	1	0	RGAG1	109584000	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	1.606000	0.36826	2.243000	0.73865	0.600000	0.82982	GAG		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		30	50	0	0	0	1	0	30	50				
MTF2	22823	broad.mit.edu	37	1	93575798	93575798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:93575798G>A	ENST00000370298.4	+	2	306	c.17G>A	c.(16-18)gGg>gAg	p.G6E	MTF2_ENST00000540243.1_Intron|MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Missense_Mutation_p.G6E	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	6					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GACTCTACAGGGGCAGGTAAT	0.393																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(16-18)gGg>gAg		metal response element binding transcription factor 2							78.0	81.0	80.0					1																	93575798		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93575798G>A	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.17G>A	1.37:g.93575798G>A	ENSP00000359321:p.Gly6Glu					MTF2_ENST00000540243.1_Intron|MTF2_ENST00000370303.4_Missense_Mutation_p.G6E|MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000471953.1_3'UTR	p.G6E	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	2	306	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	6					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.17G>A	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917502	0.33815	.	.	ENSG00000143033	ENST00000370298;ENST00000370303	T;T	0.22743	1.94;1.94	5.44	5.44	0.79542	.	0.162101	0.53938	D	0.000044	T	0.07234	0.0183	N	0.22421	0.69	0.80722	D	1	B;B	0.17038	0.016;0.02	B;B	0.16722	0.015;0.016	T	0.08106	-1.0738	10	0.46703	T	0.11	-6.7723	10.9295	0.47209	0.0:0.1477:0.7173:0.135	.	6;6	B1AKT6;Q9Y483	.;MTF2_HUMAN	E	6	ENSP00000359321:G6E;ENSP00000359326:G6E	ENSP00000359321:G6E	G	+	2	0	MTF2	93348386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.964000	0.40462	2.563000	0.86464	0.557000	0.71058	GGG		0.393	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		22	55	0	0	0	1	0	22	55				
LARP7	51574	broad.mit.edu	37	4	113568230	113568230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:113568230G>A	ENST00000344442.5	+	6	871	c.593G>A	c.(592-594)gGc>gAc	p.G198D	MIR302B_ENST00000510655.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.G205D|MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.G198D	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	198	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGAAAACCTGGCATATTTCCT	0.308																																						ENST00000509061.1																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17						c.(613-615)gGc>gAc		La ribonucleoprotein domain family, member 7							91.0	83.0	85.0					4																	113568230		1815	4071	5886	SO:0001583	missense	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113568230G>A	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.593G>A	4.37:g.113568230G>A	ENSP00000344950:p.Gly198Asp					MIR302B_ENST00000510655.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.G198D|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000344442.5_Missense_Mutation_p.G198D|MIR302B_ENST00000505215.1_RNA	p.G205D	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	8	917	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	198			Lys-rich.		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	c.614G>A	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	G	32	5.129121	0.94473	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000505034;ENST00000324052	T;T;T;T	0.19532	2.16;2.14;2.14;2.16	5.86	5.86	0.93980	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.02150	-1.1205	10	0.39692	T	0.17	-26.7807	20.1642	0.98145	0.0:0.0:1.0:0.0	.	198;198	D6RFF0;Q4G0J3	.;LARP7_HUMAN	D	198;205;198;198	ENSP00000344950:G198D;ENSP00000422626:G205D;ENSP00000421541:G198D;ENSP00000314311:G198D	ENSP00000314311:G198D	G	+	2	0	LARP7	113787679	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	6.851000	0.75425	2.775000	0.95449	0.563000	0.77884	GGC		0.308	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		18	66	0	0	0	1	0	18	66				
SPATA13	221178	broad.mit.edu	37	13	24871562	24871562	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24871562C>T	ENST00000382095.4	+	10	1804	c.1397C>T	c.(1396-1398)aCt>aTt	p.T466I	SPATA13_ENST00000382108.3_Missense_Mutation_p.T1091I|SPATA13_ENST00000424834.2_Missense_Mutation_p.T1091I|SPATA13_ENST00000399949.2_Missense_Mutation_p.T388I|SPATA13_ENST00000409126.1_Missense_Mutation_p.T326I|SPATA13_ENST00000343003.6_Missense_Mutation_p.T410I|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.T969I	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	466	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ACCAAAATCACTAAGCAAGGC	0.488																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(3271-3273)aCt>aTt		spermatogenesis associated 13							75.0	74.0	74.0					13																	24871562		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24871562C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1397C>T	13.37:g.24871562C>T	ENSP00000371527:p.Thr466Ile					SPATA13_ENST00000409126.1_Missense_Mutation_p.T326I|SPATA13_ENST00000382095.4_Missense_Mutation_p.T466I|SPATA13_ENST00000399949.2_Missense_Mutation_p.T388I|SPATA13_ENST00000343003.6_Missense_Mutation_p.T410I|SPATA13_ENST00000382108.3_Missense_Mutation_p.T1091I	p.T1091I			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	13	3745	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	466					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.3272C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770419	0.31320	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.12	2.2	0.27929	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.294312	0.38897	N	0.001531	T	0.62454	0.2429	L	0.38838	1.175	0.22424	N	0.999118	B;B;B;B;B;B	0.11235	0.003;0.004;0.002;0.002;0.001;0.001	B;B;B;B;B;B	0.18871	0.023;0.013;0.005;0.013;0.008;0.014	T	0.45848	-0.9233	10	0.27785	T	0.31	.	4.5961	0.12330	0.1496:0.4827:0.2892:0.0784	.	326;410;350;412;388;466	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.;.;.;.;.;SPT13_HUMAN	I	1091;466;364;412;388;326;410	ENSP00000371542:T1091I;ENSP00000371527:T466I;ENSP00000401605:T364I;ENSP00000382830:T388I;ENSP00000386471:T326I;ENSP00000343631:T410I	ENSP00000343631:T410I	T	+	2	0	SPATA13	23769562	0.249000	0.23941	0.302000	0.25058	0.997000	0.91878	0.778000	0.26732	0.532000	0.28657	0.561000	0.74099	ACT		0.488	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		19	61	0	0	0	1	0	19	61				
GPR158	57512	broad.mit.edu	37	10	25464407	25464407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:25464407G>A	ENST00000376351.3	+	1	417	c.58G>A	c.(58-60)Gga>Aga	p.G20R	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	20					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTGGGATTGGGAGCTGTTGG	0.672																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(58-60)Gga>Aga		G protein-coupled receptor 158							33.0	40.0	38.0					10																	25464407		2202	4286	6488	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464407G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.58G>A	10.37:g.25464407G>A	ENSP00000365529:p.Gly20Arg					GPR158-AS1_ENST00000449643.1_RNA	p.G20R	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	417	+			20					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.58G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834429	0.32421	.	.	ENSG00000151025	ENST00000376351	T	0.67698	-0.28	5.25	3.34	0.38264	.	0.126140	0.32190	N	0.006453	T	0.57460	0.2055	L	0.36672	1.1	0.28153	N	0.929296	B	0.15930	0.015	B	0.17722	0.019	T	0.55885	-0.8070	10	0.87932	D	0	.	13.6921	0.62553	0.0:0.2956:0.7044:0.0	.	20	Q5T848	GP158_HUMAN	R	20	ENSP00000365529:G20R	ENSP00000365529:G20R	G	+	1	0	GPR158	25504413	1.000000	0.71417	0.196000	0.23383	0.679000	0.39708	2.085000	0.41634	0.575000	0.29434	-0.499000	0.04595	GGA		0.672	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		20	63	0	0	0	1	0	20	63				
KIAA0319	9856	broad.mit.edu	37	6	24596824	24596824	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:24596824G>A	ENST00000378214.3	-	3	602	c.78C>T	c.(76-78)agC>agT	p.S26S	KIAA0319_ENST00000543707.1_Silent_p.S26S|KIAA0319_ENST00000537886.1_Silent_p.S26S|KIAA0319_ENST00000535378.1_Silent_p.S17S|KIAA0319_ENST00000430948.2_5'UTR	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	26	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCTCCCCTCGCTGCACTGCT	0.498																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(49-51)agC>agT		KIAA0319							75.0	64.0	68.0					6																	24596824		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596824G>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.78C>T	6.37:g.24596824G>A						KIAA0319_ENST00000543707.1_Silent_p.S26S|KIAA0319_ENST00000537886.1_Silent_p.S26S|KIAA0319_ENST00000378214.3_Silent_p.S26S|KIAA0319_ENST00000430948.2_5'UTR	p.S17S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	693	-			26					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.51C>T	CCDS34348.1																																																																																				0.498	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		31	38	0	0	0	1	0	31	38				
ITGAE	3682	broad.mit.edu	37	17	3655029	3655029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3655029C>T	ENST00000263087.4	-	15	1906	c.1808G>A	c.(1807-1809)gGt>gAt	p.G603D		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	603					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGCCCCAAAACCTTCCAGGGG	0.617																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1807-1809)gGt>gAt		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							67.0	73.0	71.0					17																	3655029		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3655029C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1808G>A	17.37:g.3655029C>T	ENSP00000263087:p.Gly603Asp						p.G603D	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	15	1906	-			603					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.1808G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302476	0.23736	.	.	ENSG00000083457	ENST00000263087	T	0.62105	0.05	3.72	2.72	0.32119	.	.	.	.	.	T	0.39358	0.1075	N	0.17901	0.54	0.26969	N	0.965622	B	0.29508	0.246	B	0.28305	0.088	T	0.26292	-1.0107	9	0.05959	T	0.93	.	8.1634	0.31211	0.0:0.868:0.0:0.132	.	603	P38570	ITAE_HUMAN	D	603	ENSP00000263087:G603D	ENSP00000263087:G603D	G	-	2	0	ITGAE	3601778	0.009000	0.17119	0.566000	0.28421	0.456000	0.32438	0.063000	0.14410	0.658000	0.30925	0.555000	0.69702	GGT		0.617	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		15	41	0	0	0	1	0	15	41				
ITGAX	3687	broad.mit.edu	37	16	31382509	31382509	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:31382509G>A	ENST00000268296.4	+	15	1936	c.1815G>A	c.(1813-1815)ggG>ggA	p.G605G	ITGAX_ENST00000562522.1_Silent_p.G605G	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	605					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGGCTGTGGGGGCCCGGGGCC	0.662																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1813-1815)ggG>ggA		integrin, alpha X (complement component 3 receptor 4 subunit)							37.0	43.0	41.0					16																	31382509		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382509G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1815G>A	16.37:g.31382509G>A						ITGAX_ENST00000562522.1_Silent_p.G605G	p.G605G	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			15	1936	+			605					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1815G>A	CCDS10711.1																																																																																				0.662	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		12	43	0	0	0	1	0	12	43				
GHRHR	2692	broad.mit.edu	37	7	31014619	31014619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:31014619G>A	ENST00000326139.2	+	9	892	c.846G>A	c.(844-846)tgG>tgA	p.W282*	GHRHR_ENST00000409904.3_Nonsense_Mutation_p.W218*|GHRHR_ENST00000409316.1_Missense_Mutation_p.V49M|GHRHR_ENST00000461424.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	282					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CCCCCTACTGGTGGATCATCA	0.592											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(652-654)tgG>tgA		growth hormone releasing hormone receptor	Sermorelin(DB00010)						162.0	139.0	147.0					7																	31014619		2203	4300	6503	SO:0001587	stop_gained	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31014619G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.846G>A	7.37:g.31014619G>A	ENSP00000320180:p.Trp282*		OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	GHRHR_ENST00000409316.1_Missense_Mutation_p.V49M|GHRHR_ENST00000326139.2_Nonsense_Mutation_p.W282*|GHRHR_ENST00000461424.1_3'UTR	p.W218*			Q02643	GHRHR_HUMAN			6	912	+			282					Q99863	Nonsense_Mutation	SNP	ENST00000326139.2	37	c.654G>A	CCDS5432.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.501194|7.501194	0.98322|0.98322	.|.	.|.	ENSG00000106128|ENSG00000106128	ENST00000409233;ENST00000409316|ENST00000326139;ENST00000409904	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|.	.|.	.|.	.|.	T|.	0.45236|.	0.1332|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.34625|.	-0.9821|.	7|.	0.59425|0.02654	D|T	0.04|1	.|.	16.9196|16.9196	0.86160|0.86160	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	49|.	Q9HB43|.	.|.	M|X	70;49|282;218	.|.	ENSP00000386919:V70M|ENSP00000320180:W282X	V|W	+|+	1|3	0|0	GHRHR|GHRHR	30981144|30981144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.898000|0.898000	0.52572|0.52572	8.977000|8.977000	0.93446|0.93446	2.582000|2.582000	0.87167|0.87167	0.650000|0.650000	0.86243|0.86243	GTG|TGG		0.592	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			20	68	0	0	0	1	0	20	68				
NEB	4703	broad.mit.edu	37	2	152507237	152507237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:152507237G>A	ENST00000172853.10	-	53	7225	c.7078C>T	c.(7078-7080)Cca>Tca	p.P2360S	NEB_ENST00000604864.1_Missense_Mutation_p.P2360S|NEB_ENST00000409198.1_Missense_Mutation_p.P2360S|NEB_ENST00000603639.1_Missense_Mutation_p.P2360S|NEB_ENST00000397345.3_Missense_Mutation_p.P2360S|NEB_ENST00000427231.2_Missense_Mutation_p.P2360S			P20929	NEBU_HUMAN	nebulin	2360					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCCACTGGGCTGGAGAAC	0.458																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(7078-7080)Cca>Tca		nebulin							288.0	291.0	290.0					2																	152507237		2015	4167	6182	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152507237G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7078C>T	2.37:g.152507237G>A	ENSP00000172853:p.Pro2360Ser					NEB_ENST00000427231.2_Missense_Mutation_p.P2360S|NEB_ENST00000604864.1_Missense_Mutation_p.P2360S|NEB_ENST00000172853.10_Missense_Mutation_p.P2360S|NEB_ENST00000409198.1_Missense_Mutation_p.P2360S|NEB_ENST00000603639.1_Missense_Mutation_p.P2360S	p.P2360S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	53	7280	-			2360					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7078C>T		.	.	.	.	.	.	.	.	.	.	G	19.96	3.924131	0.73213	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59204	-0.7498	10	0.20046	T	0.44	.	19.3325	0.94297	0.0:0.0:1.0:0.0	.	2360	P20929	NEBU_HUMAN	S	2360	ENSP00000386259:P2360S;ENSP00000380505:P2360S;ENSP00000416578:P2360S;ENSP00000172853:P2360S	ENSP00000172853:P2360S	P	-	1	0	NEB	152215483	1.000000	0.71417	0.941000	0.38009	0.417000	0.31264	9.807000	0.99171	2.583000	0.87209	0.650000	0.86243	CCA		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		97	222	0	0	0	1	0	97	222				
TCF3	6929	broad.mit.edu	37	19	1619335	1619335	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:1619335C>T	ENST00000262965.5	-	15	1650	c.1306G>A	c.(1306-1308)Ggc>Agc	p.G436S	TCF3_ENST00000453954.2_Missense_Mutation_p.G352S|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Missense_Mutation_p.G385S|TCF3_ENST00000588136.1_Missense_Mutation_p.G436S|TCF3_ENST00000344749.5_Missense_Mutation_p.G436S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TGCCGCCCGCCCAGTGACATG	0.746			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1306-1308)Ggc>Agc		transcription factor 3							11.0	14.0	13.0					19																	1619335		2177	4216	6393	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1619335C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1306G>A	19.37:g.1619335C>T	ENSP00000262965:p.Gly436Ser					TCF3_ENST00000395423.3_Missense_Mutation_p.G385S|TCF3_ENST00000453954.2_Missense_Mutation_p.G352S|TCF3_ENST00000344749.5_Missense_Mutation_p.G436S|TCF3_ENST00000588136.1_Missense_Mutation_p.G436S	p.G436S	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1650	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	436					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.1306G>A	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	9.725	1.160724	0.21538	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.49139	0.79;0.79;0.79	4.29	4.29	0.51040	.	0.481828	0.22223	N	0.062933	T	0.34513	0.0900	N	0.20986	0.625	0.34584	D	0.71472	B;B;B;B	0.26635	0.152;0.155;0.011;0.077	B;B;B;B	0.28784	0.094;0.021;0.024;0.014	T	0.44221	-0.9342	10	0.25106	T	0.35	-13.7232	13.9041	0.63823	0.0:1.0:0.0:0.0	.	436;436;385;373	P15923-2;P15923;Q2TB39;Q6PJU3	.;TFE2_HUMAN;.;.	S	436;436;436;385	ENSP00000262965:G436S;ENSP00000344375:G436S;ENSP00000378813:G385S	ENSP00000262965:G436S	G	-	1	0	TCF3	1570335	0.018000	0.18449	0.363000	0.25875	0.038000	0.13279	1.869000	0.39519	1.902000	0.55061	0.561000	0.74099	GGC		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		3	14	0	0	0	1	0	3	14				
ATP2A2	488	broad.mit.edu	37	12	110720562	110720562	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:110720562C>T	ENST00000539276.2	+	3	290	c.181C>T	c.(181-183)Cta>Tta	p.L61L	ATP2A2_ENST00000395494.2_Silent_p.L61L|ATP2A2_ENST00000308664.6_Silent_p.L61L|ATP2A2_ENST00000552636.1_5'UTR			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	61					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGAAGACTTGCTAGTTAGGAT	0.338																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(181-183)Cta>Tta		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							134.0	128.0	130.0					12																	110720562		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110720562C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.181C>T	12.37:g.110720562C>T						ATP2A2_ENST00000539276.2_Silent_p.L61L|ATP2A2_ENST00000552636.1_5'UTR|ATP2A2_ENST00000308664.6_Silent_p.L61L	p.L61L			P16615	AT2A2_HUMAN			3	744	+			61					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.181C>T	CCDS9144.1																																																																																				0.338	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		32	50	0	0	0	1	0	32	50				
COL18A1	80781	broad.mit.edu	37	21	46875871	46875871	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46875871C>T	ENST00000359759.4	+	1	448	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Silent_p.L143L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	143					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCGGAAACCCTGGTCCTGGA	0.642																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(427-429)Ctg>Ttg		collagen, type XVIII, alpha 1							31.0	37.0	35.0					21																	46875871		2023	4139	6162	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875871C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.427C>T	21.37:g.46875871C>T						COL18A1_ENST00000355480.5_Silent_p.L143L|COL18A1_ENST00000400337.2_Intron	p.L143L			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	448	+			143					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.427C>T																																																																																					0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			19	27	0	0	0	1	0	19	27				
PRSS27	83886	broad.mit.edu	37	16	2764226	2764226	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2764226G>A	ENST00000302641.3	-	4	402	c.348C>T	c.(346-348)taC>taT	p.Y116Y	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	116	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCGTGCCCTGGTACAGGGGGT	0.667																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(346-348)taC>taT		protease, serine 27							41.0	38.0	39.0					16																	2764226		2198	4300	6498	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2764226G>A	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.348C>T	16.37:g.2764226G>A							p.Y116Y	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			4	402	-			116			Peptidase S1.			Silent	SNP	ENST00000302641.3	37	c.348C>T	CCDS10476.1																																																																																				0.667	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		17	18	0	0	0	1	0	17	18				
CPA4	51200	broad.mit.edu	37	7	129944371	129944371	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:129944371G>A	ENST00000222482.4	+	5	466	c.438G>A	c.(436-438)agG>agA	p.R146R	CPA4_ENST00000445470.2_Silent_p.R113R|CPA4_ENST00000493259.1_Silent_p.R42R	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	146					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGGCGAGGAGGGTGAAGATTG	0.498																																						ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(436-438)agG>agA		carboxypeptidase A4							173.0	154.0	161.0					7																	129944371		2203	4300	6503	SO:0001819	synonymous_variant	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129944371G>A	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.438G>A	7.37:g.129944371G>A						CPA4_ENST00000445470.2_Silent_p.R113R|CPA4_ENST00000493259.1_Silent_p.R42R	p.R146R	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			5	466	+	Melanoma(18;0.0435)		146					B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	c.438G>A	CCDS5818.1																																																																																				0.498	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		29	94	0	0	0	1	0	29	94				
BUD13	84811	broad.mit.edu	37	11	116631470	116631470	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:116631470C>T	ENST00000260210.4	-	5	1258	c.1235G>A	c.(1234-1236)aGt>aAt	p.S412N	BUD13_ENST00000375445.3_Missense_Mutation_p.S278N	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	412					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		AGGAGGCTGACTCCTTCGAGG	0.498																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1234-1236)aGt>aAt		BUD13 homolog (S. cerevisiae)							89.0	91.0	90.0					11																	116631470		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116631470C>T	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1235G>A	11.37:g.116631470C>T	ENSP00000260210:p.Ser412Asn					BUD13_ENST00000375445.3_Missense_Mutation_p.S278N	p.S412N	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	5	1258	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	412					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1235G>A	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901321	0.33535	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.18810	2.19;2.21	6.11	4.19	0.49359	.	0.575245	0.20885	N	0.083939	T	0.21509	0.0518	L	0.51422	1.61	0.35490	D	0.798884	B;B;B	0.14012	0.003;0.009;0.003	B;B;B	0.17722	0.007;0.019;0.011	T	0.11690	-1.0577	10	0.87932	D	0	-2.2584	11.0404	0.47827	0.131:0.5826:0.2865:0.0	.	412;278;412	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	N	278;412	ENSP00000364594:S278N;ENSP00000260210:S412N	ENSP00000260210:S412N	S	-	2	0	BUD13	116136680	0.976000	0.34144	1.000000	0.80357	0.997000	0.91878	0.740000	0.26188	0.841000	0.35020	0.655000	0.94253	AGT		0.498	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		16	108	0	0	0	1	0	16	108				
HIST2H2BB	338391	broad.mit.edu	37	1	149376774	149376774	+	lincRNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:149376774C>T	ENST00000415338.1	-	0	1061				HIST2H2BB_ENST00000609585.1_RNA																							CTTGCAGAGGCCTGGTTTGCA	0.498																																						ENST00000415338.1																			0																																																			0							g.chr1:149376774C>T																													1.37:g.149376774C>T														0	1061	-									RNA	SNP	ENST00000415338.1	37																																																																																						0.498	RP5-998N21.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098435.1			11	7	0	0	0	1	0	11	7				
SLC6A13	6540	broad.mit.edu	37	12	333566	333566	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:333566C>T	ENST00000343164.4	-	10	1226		c.e10+1		SLC6A13_ENST00000539668.1_Splice_Site|SLC6A13_ENST00000445055.2_Splice_Site	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCTCTTGATACCTGGCTATCC	0.577																																						ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.e10+1		solute carrier family 6 (neurotransmitter transporter), member 13							84.0	77.0	79.0					12																	333566		2203	4300	6503	SO:0001630	splice_region_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333566C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1173+1G>A	12.37:g.333566C>T						SLC6A13_ENST00000445055.2_Splice_Site|SLC6A13_ENST00000539668.1_Splice_Site		NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1226	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)							B4DJL1|Q8TCC2|Q8WW56	Splice_Site	SNP	ENST00000343164.4	37		CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965068	0.74131	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2691	0.94002	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC6A13	203827	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.818000	0.86416	2.564000	0.86499	0.448000	0.29417	.		0.577	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615	Intron	19	50	0	0	0	1	0	19	50				
PLEKHB2	55041	broad.mit.edu	37	2	131883326	131883326	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:131883326G>A	ENST00000403716.1	+	3	598	c.38G>A	c.(37-39)aGt>aAt	p.S13N	PLEKHB2_ENST00000439822.2_Splice_Site_p.S13N|PLEKHB2_ENST00000409158.1_Splice_Site_p.S13N|PLEKHB2_ENST00000409279.1_Splice_Site_p.S13N|PLEKHB2_ENST00000438882.2_Splice_Site_p.S13N|PLEKHB2_ENST00000409612.1_Splice_Site_p.S13N|PLEKHB2_ENST00000234115.6_Splice_Site_p.S13N|PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000303908.3_Splice_Site_p.S13N|PLEKHB2_ENST00000404460.1_Splice_Site_p.S13N	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	13	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TTTTTTCCAGGTACTATTTTG	0.388																																						ENST00000403716.1																			0				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.e3-1		pleckstrin homology domain containing, family B (evectins) member 2							59.0	57.0	58.0					2																	131883326		2203	4300	6503	SO:0001630	splice_region_variant	55041					membrane	protein binding	g.chr2:131883326G>A		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.38-1G>A	2.37:g.131883326G>A						PLEKHB2_ENST00000234115.6_Splice_Site_p.S13_splice|PLEKHB2_ENST00000409612.1_Splice_Site_p.S13_splice|PLEKHB2_ENST00000404460.1_Splice_Site_p.S13_splice|PLEKHB2_ENST00000438882.2_Splice_Site_p.S13_splice|PLEKHB2_ENST00000439822.2_Splice_Site_p.S13_splice|PLEKHB2_ENST00000409158.1_Splice_Site_p.S13_splice|PLEKHB2_ENST00000409279.1_Splice_Site_p.S13_splice|PLEKHB2_ENST00000303908.3_Splice_Site_p.S13_splice|PLEKHB2_ENST00000538982.1_5'UTR	p.S13_splice	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0828)	3	598	+			13			PH.		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Splice_Site	SNP	ENST00000403716.1	37	c.37_splice	CCDS46413.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602279	0.87055	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000439822;ENST00000438882;ENST00000404460;ENST00000409612;ENST00000409279;ENST00000303908	T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	4.93	4.93	0.64822	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	T	0.43122	0.1233	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.997;0.991;0.997;0.996;0.991;0.997;0.997	D;D;D;D;D;D;D	0.79108	0.992;0.979;0.991;0.984;0.979;0.991;0.991	T	0.47407	-0.9120	9	.	.	.	.	15.9847	0.80142	0.0:0.0:1.0:0.0	.	13;13;13;13;13;13;13	B4DZ66;B4DF08;Q53FF1;Q96CS7-3;B7WPA5;Q96CS7;B8ZZN1	.;.;.;.;.;PKHB2_HUMAN;.	N	13	ENSP00000386410:S13N;ENSP00000385892:S13N;ENSP00000234115:S13N;ENSP00000389629:S13N;ENSP00000401193:S13N;ENSP00000385609:S13N;ENSP00000386662:S13N;ENSP00000386666:S13N;ENSP00000306852:S13N	.	S	+	2	0	PLEKHB2	131599796	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.723000	0.91458	2.443000	0.82685	0.462000	0.41574	AGT		0.388	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958	Missense_Mutation	14	61	0	0	0	1	0	14	61				
ZNF479	90827	broad.mit.edu	37	7	57193741	57193741	+	Missense_Mutation	SNP	C	C	T	rs535878108		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:57193741C>T	ENST00000331162.4	-	4	516	c.246G>A	c.(244-246)atG>atA	p.M82I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTTGGCTACCATCTCATTTC	0.423													.|||	1	0.000199681	0.0	0.0	5008	,	,		16875	0.0		0.0	False		,,,				2504	0.001					ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(244-246)atG>atA		zinc finger protein 479							70.0	76.0	74.0					7																	57193741		2037	4087	6124	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57193741C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.246G>A	7.37:g.57193741C>T	ENSP00000333776:p.Met82Ile						p.M82I	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		4	516	-			82			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.246G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	1.521	-0.546837	0.04024	.	.	ENSG00000185177	ENST00000331162	T	0.06068	3.35	1.25	-2.51	0.06365	Krueppel-associated box (1);	.	.	.	.	T	0.02807	0.0084	N	0.17082	0.46	0.09310	N	1	P	0.34662	0.462	B	0.26094	0.066	T	0.35919	-0.9769	9	0.48119	T	0.1	.	2.3553	0.04294	0.0:0.267:0.2959:0.4371	.	82	Q96JC4	ZN479_HUMAN	I	82	ENSP00000333776:M82I	ENSP00000333776:M82I	M	-	3	0	ZNF479	57197683	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.883000	0.28200	-1.104000	0.03015	-0.515000	0.04445	ATG		0.423	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	163	0	0	0	1	0	5	163				
FBXW7	55294	broad.mit.edu	37	4	153271254	153271254	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:153271254C>T	ENST00000281708.4	-	3	1753	c.524G>A	c.(523-525)gGt>gAt	p.G175D	FBXW7_ENST00000393956.3_5'Flank|FBXW7_ENST00000296555.5_Missense_Mutation_p.G57D|FBXW7_ENST00000603841.1_Missense_Mutation_p.G175D|FBXW7_ENST00000263981.5_Missense_Mutation_p.G95D|FBXW7_ENST00000603548.1_Missense_Mutation_p.G175D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	175					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)			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)				GACCTCAGAACCATGGTCCAA	0.303			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		0				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						c.(523-525)gGt>gAt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							27.0	28.0	28.0					4																	153271254		2195	4282	6477	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153271254C>T	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.524G>A	4.37:g.153271254C>T	ENSP00000281708:p.Gly175Asp					FBXW7_ENST00000603841.1_Missense_Mutation_p.G175D|FBXW7_ENST00000263981.5_Missense_Mutation_p.G95D|FBXW7_ENST00000603548.1_Missense_Mutation_p.G175D|FBXW7_ENST00000296555.5_Missense_Mutation_p.G57D	p.G175D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			3	1753	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	175					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.524G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496272	0.85069	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981	T;T;T	0.58506	0.53;0.48;0.33	6.17	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	N	0.19112	0.55	0.80722	D	1	P;B;P	0.48834	0.916;0.356;0.869	B;B;B	0.43123	0.409;0.115;0.375	T	0.49652	-0.8917	10	0.46703	T	0.11	-20.0387	15.5098	0.75772	0.0:0.9342:0.0:0.0658	.	175;57;95	Q969H0;Q969H0-4;Q969H0-2	FBXW7_HUMAN;.;.	D	175;57;95	ENSP00000281708:G175D;ENSP00000296555:G57D;ENSP00000263981:G95D	ENSP00000263981:G95D	G	-	2	0	FBXW7	153490704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	1.621000	0.50320	0.655000	0.94253	GGT		0.303	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			8	9	0	0	0	1	0	8	9				
C12orf76	400073	broad.mit.edu	37	12	110488874	110488874	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:110488874C>T	ENST00000309050.5	-	4	664				C12orf76_ENST00000551185.2_5'Flank|C12orf76_ENST00000546627.1_5'Flank|C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000546651.2_5'Flank|C12orf76_ENST00000548191.1_Silent_p.E79E|C12orf76_ENST00000549724.1_5'Flank|C12orf76_ENST00000547573.1_5'Flank	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76											endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						TCTCCACGATCTCCTCTTTCA	0.478																																						ENST00000548191.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(235-237)gaG>gaA		chromosome 12 open reading frame 76																																				SO:0001627	intron_variant	400073							g.chr12:110488874C>T	BC041968	CCDS9141.1	12q24.11	2012-08-16			ENSG00000174456	ENSG00000174456			33790	protein-coding gene	gene with protein product							Standard	NM_207435		Approved	FLJ40142	uc001tqe.2	Q8N812	OTTHUMG00000169315	ENST00000309050.5:c.299+6119G>A	12.37:g.110488874C>T						C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000309050.5_Intron	p.E79E			Q8N812	CL076_HUMAN			2	494	-			0						Silent	SNP	ENST00000309050.5	37	c.237G>A	CCDS9141.1																																																																																				0.478	C12orf76-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403439.2	NM_207435		5	33	0	0	0	1	0	5	33				
ANGPT4	51378	broad.mit.edu	37	20	861826	861826	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:861826C>T	ENST00000381922.3	-	5	1041	c.939G>A	c.(937-939)acG>acA	p.T313T	ANGPT4_ENST00000546022.1_Silent_p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	313	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCCTGGGCTTCGTTGCATTGG	0.597																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(937-939)acG>acA		angiopoietin 4							61.0	51.0	54.0					20																	861826		2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:861826C>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.939G>A	20.37:g.861826C>T						ANGPT4_ENST00000546022.1_Silent_p.T313T	p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			5	1041	-			313			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.939G>A	CCDS13009.1																																																																																				0.597	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		3	17	0	0	0	1	0	3	17				
KRTAP1-1	81851	broad.mit.edu	37	17	39197184	39197184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39197184G>A	ENST00000306271.4	-	1	529	c.466C>T	c.(466-468)Cca>Tca	p.P156S		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	156						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGTAGGATGGGCGGCAGCAG	0.632																																						ENST00000306271.4																			0				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(466-468)Cca>Tca		keratin associated protein 1-1							29.0	34.0	32.0					17																	39197184		2057	4177	6234	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197184G>A	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.466C>T	17.37:g.39197184G>A	ENSP00000305975:p.Pro156Ser						p.P156S	NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	529	-		Breast(137;0.000496)	156					A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.466C>T	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634150	0.67130	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.52057	0.68	4.46	4.46	0.54185	.	.	.	.	.	T	0.61602	0.2360	M	0.67517	2.055	0.35859	D	0.827333	D	0.59767	0.986	D	0.64506	0.926	T	0.67515	-0.5651	9	0.49607	T	0.09	.	10.2343	0.43273	0.0:0.0:0.8025:0.1975	.	156	Q07627	KRA11_HUMAN	S	156;146	ENSP00000305975:P156S	ENSP00000305975:P156S	P	-	1	0	KRTAP1-1	36450710	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.343000	0.52167	2.785000	0.95823	0.650000	0.86243	CCA		0.632	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		8	45	0	0	0	1	0	8	45				
UBQLN4	56893	broad.mit.edu	37	1	156013884	156013884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156013884C>T	ENST00000368309.3	-	6	1123	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	344					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CCCACCGGACCCGGGGGCCTG	0.682																																						ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(1030-1032)gGg>gAg		ubiquilin 4							12.0	14.0	13.0					1																	156013884		2183	4261	6444	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156013884C>T	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1031G>A	1.37:g.156013884C>T	ENSP00000357292:p.Gly344Glu					UBQLN4_ENST00000368307.1_Intron	p.G344E	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN			6	1123	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		344					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.1031G>A	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681315	0.47991	.	.	ENSG00000160803	ENST00000368309	T	0.55760	0.5	4.71	4.71	0.59529	.	0.305324	0.37219	N	0.002200	T	0.34978	0.0916	L	0.47190	1.495	0.80722	D	1	P;P	0.42827	0.704;0.791	B;B	0.41764	0.17;0.366	T	0.22347	-1.0219	10	0.41790	T	0.15	-31.3674	11.8157	0.52209	0.0:0.7185:0.2815:0.0	.	324;344	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	E	344	ENSP00000357292:G344E	ENSP00000357292:G344E	G	-	2	0	UBQLN4	154280508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.692000	0.37731	2.613000	0.88420	0.655000	0.94253	GGG		0.682	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		13	12	0	0	0	1	0	13	12				
CCDC127	133957	broad.mit.edu	37	5	205604	205604	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:205604G>A	ENST00000296824.3	-	3	723	c.591C>T	c.(589-591)gaC>gaT	p.D197D		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	197										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CGGCGACGGGGTCGACGGACG	0.522																																						ENST00000296824.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(589-591)gaC>gaT		coiled-coil domain containing 127							75.0	72.0	73.0					5																	205604		2203	4300	6503	SO:0001819	synonymous_variant	133957							g.chr5:205604G>A	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.591C>T	5.37:g.205604G>A							p.D197D	NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	723	-			197						Silent	SNP	ENST00000296824.3	37	c.591C>T	CCDS3852.1																																																																																				0.522	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		5	75	0	0	0	1	0	5	75				
CBLN1	869	broad.mit.edu	37	16	49314954	49314954	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:49314954C>T	ENST00000219197.6	-	2	630		c.e2-1		CBLN1_ENST00000536749.1_Splice_Site	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor						cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				TCACTAGTACCTATAACGAGA	0.552																																						ENST00000219197.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9						c.e2-1		cerebellin 1 precursor							102.0	93.0	96.0					16																	49314954		2200	4300	6500	SO:0001630	splice_region_variant	869				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		g.chr16:49314954C>T	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.265-1G>A	16.37:g.49314954C>T						CBLN1_ENST00000536749.1_Splice_Site		NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN			2	630	-		all_cancers(37;0.0766)|all_lung(18;0.24)						B2RAN9|P02682|Q52M09	Splice_Site	SNP	ENST00000219197.6	37		CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826321	0.71143	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1282	0.86720	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBLN1	47872455	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.604000	0.82830	2.371000	0.80710	0.462000	0.41574	.		0.552	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352	Intron	16	25	0	0	0	1	0	16	25				
TNFRSF10A	8797	broad.mit.edu	37	8	23059383	23059383	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:23059383C>T	ENST00000221132.3	-	4	631	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	189					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTGGTTTGCACTGACATGCTG	0.522																																						ENST00000221132.3																			0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(565-567)caG>caA		tumor necrosis factor receptor superfamily, member 10a							182.0	130.0	148.0					8																	23059383		2203	4300	6503	SO:0001819	synonymous_variant	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23059383C>T	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.567G>A	8.37:g.23059383C>T							p.Q189Q	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	4	631	-		Prostate(55;0.0421)|Breast(100;0.14)	189					A8K5I4|Q53Y72|Q96E62	Silent	SNP	ENST00000221132.3	37	c.567G>A	CCDS6039.1																																																																																				0.522	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		39	81	0	0	0	1	0	39	81				
C1QTNF9B	387911	broad.mit.edu	37	13	24465787	24465787	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24465787G>A	ENST00000382140.2	-	5	703	c.643C>T	c.(643-645)Cct>Tct	p.P215S	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.P215S|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000435039.2_RNA|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382057.3_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	215	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTGAAGAAGGAAACTTGCTC	0.453																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(643-645)Cct>Tct		C1q and tumor necrosis factor related protein 9B							116.0	125.0	122.0					13																	24465787		2203	4300	6503	SO:0001583	missense	387911					collagen		g.chr13:24465787G>A	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.643C>T	13.37:g.24465787G>A	ENSP00000371575:p.Pro215Ser					C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.P215S|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA	p.P215S	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	711	-			215			C1q.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.643C>T	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	g	17.07	3.296344	0.60086	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.93366	-3.21;-3.21	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.93762	0.8006	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94970	0.8116	10	0.66056	D	0.02	.	16.4561	0.84015	0.0:0.0:1.0:0.0	.	215	B2RNN3	C1T9B_HUMAN	S	215	ENSP00000371572:P215S;ENSP00000371575:P215S	ENSP00000371572:P215S	P	-	1	0	C1QTNF9B	23363787	1.000000	0.71417	0.483000	0.27378	0.586000	0.36452	9.695000	0.98691	1.950000	0.56595	0.456000	0.33151	CCT		0.453	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		4	110	0	0	0	1	0	4	110				
FUK	197258	broad.mit.edu	37	16	70500068	70500068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:70500068G>A	ENST00000288078.6	+	5	551	c.319G>A	c.(319-321)Gct>Act	p.A107T	FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.A90T|FUK_ENST00000378912.2_Missense_Mutation_p.A139T	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	107						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTGTGGCAGGGCTTTCACCTG	0.622																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(319-321)Gct>Act		fucokinase							63.0	69.0	67.0					16																	70500068		1962	4134	6096	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70500068G>A		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.319G>A	16.37:g.70500068G>A	ENSP00000288078:p.Ala107Thr					FUK_ENST00000378912.2_Missense_Mutation_p.A139T|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.A90T	p.A107T	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			5	551	+		Ovarian(137;0.0694)	107					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.319G>A	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	33	5.225373	0.95173	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.34072	1.38;1.38;1.38	5.58	4.62	0.57501	L-fucokinase (1);	0.062048	0.64402	D	0.000005	T	0.58395	0.2119	M	0.66939	2.045	0.38231	D	0.941021	D;D;D	0.89917	1.0;0.997;0.987	D;D;P	0.75020	0.985;0.922;0.842	T	0.66284	-0.5962	10	0.59425	D	0.04	-18.7093	16.1543	0.81646	0.0:0.0:0.8654:0.1346	.	90;139;107	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	T	107;139;90	ENSP00000288078:A107T;ENSP00000368192:A139T;ENSP00000408007:A90T	ENSP00000288078:A107T	A	+	1	0	FUK	69057569	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.027000	0.88791	1.484000	0.48361	0.655000	0.94253	GCT		0.622	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		5	80	0	0	0	1	0	5	80				
PRKAA2	5563	broad.mit.edu	37	1	57169813	57169813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:57169813C>T	ENST00000371244.4	+	7	1024	c.958C>T	c.(958-960)Ctt>Ttt	p.L320F		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	320	AIS. {ECO:0000250}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TCAAGACCAGCTTGCAGTGGC	0.408																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(958-960)Ctt>Ttt		protein kinase, AMP-activated, alpha 2 catalytic subunit							168.0	158.0	162.0					1																	57169813		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57169813C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.958C>T	1.37:g.57169813C>T	ENSP00000360290:p.Leu320Phe						p.L320F	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			7	1024	+			320					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.958C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677994	0.68042	.	.	ENSG00000162409	ENST00000371244	T	0.74209	-0.82	6.06	3.19	0.36642	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85080	0.0945	10	0.46703	T	0.11	-20.1689	11.6999	0.51564	0.0:0.8079:0.0:0.1921	.	320	P54646	AAPK2_HUMAN	F	320	ENSP00000360290:L320F	ENSP00000360290:L320F	L	+	1	0	PRKAA2	56942401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.337000	0.43947	0.913000	0.36797	0.655000	0.94253	CTT		0.408	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		40	80	0	0	0	1	0	40	80				
SYNE2	23224	broad.mit.edu	37	14	64678713	64678713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:64678713C>T	ENST00000344113.4	+	104	18970	c.18758C>T	c.(18757-18759)aCc>aTc	p.T6253I	SYNE2_ENST00000394768.2_Missense_Mutation_p.T2638I|SYNE2_ENST00000554584.1_Missense_Mutation_p.T6212I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.T2638I|SYNE2_ENST00000554805.1_Missense_Mutation_p.T36I|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000555022.1_Missense_Mutation_p.T131I|SYNE2_ENST00000555002.1_Missense_Mutation_p.T2887I|SYNE2_ENST00000358025.3_Missense_Mutation_p.T6253I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6253					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)			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)		TTTGAGGGCACCAGGGAGAGC	0.522																																						ENST00000357395.3																			0				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						c.(7912-7914)aCc>aTc		spectrin repeat containing, nuclear envelope 2							140.0	131.0	134.0					14																	64678713		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64678713C>T	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.18758C>T	14.37:g.64678713C>T	ENSP00000341781:p.Thr6253Ile					ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.T2638I|SYNE2_ENST00000358025.3_Missense_Mutation_p.T6253I|SYNE2_ENST00000555002.1_Missense_Mutation_p.T2887I|SYNE2_ENST00000554805.1_Missense_Mutation_p.T36I|SYNE2_ENST00000554584.1_Missense_Mutation_p.T6212I|SYNE2_ENST00000555022.1_Missense_Mutation_p.T131I|SYNE2_ENST00000344113.4_Missense_Mutation_p.T6253I	p.T2638I			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	105	19057	+			6253					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7913C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753549	0.49362	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.44	5.44	0.79542	.	0.000000	0.49916	D	0.000122	T	0.59514	0.2199	L	0.58101	1.795	0.80722	D	1	D;P;D;D;D	0.89917	0.962;0.935;0.999;0.997;1.0	D;P;D;D;D	0.87578	0.91;0.749;0.961;0.98;0.998	T	0.60078	-0.7333	10	0.72032	D	0.01	.	19.6223	0.95663	0.0:1.0:0.0:0.0	.	2638;641;6212;6253;6253	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	I	6253;2638;6253;6212;6218;2887;2638;131;36	ENSP00000350719:T6253I;ENSP00000349969:T2638I;ENSP00000341781:T6253I;ENSP00000452570:T6212I;ENSP00000450831:T2887I;ENSP00000378249:T2638I;ENSP00000451009:T131I;ENSP00000450605:T36I	ENSP00000261678:T6218I	T	+	2	0	SYNE2	63748466	0.345000	0.24835	1.000000	0.80357	0.952000	0.60782	3.148000	0.50647	2.712000	0.92718	0.561000	0.74099	ACC		0.522	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	77	0	0	0	1	0	6	77				
EPOR	2057	broad.mit.edu	37	19	11492781	11492781	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11492781C>T	ENST00000222139.6	-	3	356	c.252G>A	c.(250-252)gaG>gaA	p.E84E	EPOR_ENST00000592375.2_Splice_Site_p.E84E	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	84					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	ATGGCTCATCCCTATGCGCCC	0.652																																						ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.e3-1		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						26.0	28.0	28.0					19																	11492781		2203	4299	6502	SO:0001630	splice_region_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11492781C>T	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.252-1G>A	19.37:g.11492781C>T						EPOR_ENST00000222139.6_Splice_Site_p.E84_splice	p.E84_splice			P19235	EPOR_HUMAN			3	356	-			84					B2RCG4|Q15443|Q2M205	Splice_Site	SNP	ENST00000222139.6	37	c.251_splice	CCDS12260.1																																																																																				0.652	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1		Silent	5	21	0	0	0	1	0	5	21				
PDSS1	23590	broad.mit.edu	37	10	27024250	27024250	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:27024250G>A	ENST00000376215.5	+	9	965		c.e9+1		PDSS1_ENST00000376203.5_Intron|PDSS1_ENST00000470978.1_Splice_Site	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1						isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AGCTTTTCAGGTTAGTATGCT	0.428																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.e9+1		prenyl (decaprenyl) diphosphate synthase, subunit 1							199.0	198.0	198.0					10																	27024250		2203	4300	6503	SO:0001630	splice_region_variant	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:27024250G>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.912+1G>A	10.37:g.27024250G>A						PDSS1_ENST00000470978.1_Splice_Site|PDSS1_ENST00000376203.5_Intron		NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			9	965	+								Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Splice_Site	SNP	ENST00000376215.5	37		CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721048	0.89205	.	.	ENSG00000148459	ENST00000376215;ENST00000396343	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6316	0.95708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDSS1	27064256	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.837000	0.99465	2.646000	0.89796	0.655000	0.94253	.		0.428	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1		Intron	5	121	0	0	0	1	0	5	121				
KCTD20	222658	broad.mit.edu	37	6	36454877	36454877	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36454877C>T	ENST00000373731.2	+	8	1576	c.1185C>T	c.(1183-1185)caC>caT	p.H395H	KCTD20_ENST00000449081.2_Silent_p.H229H|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Silent_p.H250H|KCTD20_ENST00000544295.1_Silent_p.H149H	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	395					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TAATGCATCACCCACCCCAAG	0.502																																						ENST00000373731.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						c.(1183-1185)caC>caT		potassium channel tetramerization domain containing 20							213.0	213.0	213.0					6																	36454877		2203	4300	6503	SO:0001819	synonymous_variant	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36454877C>T	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.1185C>T	6.37:g.36454877C>T						KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Silent_p.H250H|KCTD20_ENST00000449081.2_Silent_p.H229H|KCTD20_ENST00000544295.1_Silent_p.H149H	p.H395H	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN			8	1576	+			395					B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Silent	SNP	ENST00000373731.2	37	c.1185C>T	CCDS4821.1																																																																																				0.502	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		14	228	0	0	0	1	0	14	228				
GDPD5	81544	broad.mit.edu	37	11	75160088	75160088	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:75160088G>A	ENST00000336898.3	-	9	1485	c.648C>T	c.(646-648)ccC>ccT	p.P216P	GDPD5_ENST00000376282.3_Silent_p.P97P|GDPD5_ENST00000529721.1_Silent_p.P216P|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000526177.1_Silent_p.P78P|GDPD5_ENST00000533784.1_Silent_p.P97P	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	216					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CCATGATGCAGGGAGAGGAGA	0.612																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(232-234)ccC>ccT		glycerophosphodiester phosphodiesterase domain containing 5							97.0	88.0	91.0					11																	75160088		2200	4293	6493	SO:0001819	synonymous_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75160088G>A	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.648C>T	11.37:g.75160088G>A						GDPD5_ENST00000336898.3_Silent_p.P216P|GDPD5_ENST00000376282.3_Silent_p.P97P|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Silent_p.P97P|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000529721.1_Silent_p.P216P	p.P78P			Q8WTR4	GDPD5_HUMAN			5	2112	-			216					Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	37	c.234C>T	CCDS8238.1																																																																																				0.612	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		4	13	0	0	0	1	0	4	13				
TXN2	25828	broad.mit.edu	37	22	36863955	36863955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:36863955C>T	ENST00000216185.2	-	4	863	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_Missense_Mutation_p.V31M|TXN2_ENST00000403313.1_Missense_Mutation_p.V133M			Q99757	THIOM_HUMAN	thioredoxin 2	133	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						ACAGTGGGCACCGCTGACACC	0.557																																						ENST00000216185.2																			0				breast(1)|lung(1)|prostate(1)	3						c.(397-399)Gtg>Atg		thioredoxin 2							95.0	76.0	82.0					22																	36863955		2203	4300	6503	SO:0001583	missense	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36863955C>T	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.397G>A	22.37:g.36863955C>T	ENSP00000216185:p.Val133Met					TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_Missense_Mutation_p.V31M|TXN2_ENST00000403313.1_Missense_Mutation_p.V133M	p.V133M			Q99757	THIOM_HUMAN			4	863	-			133			Thioredoxin.		Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	c.397G>A	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710650	0.68730	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.25250	1.81;1.81	5.64	5.64	0.86602	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.118331	0.56097	D	0.000027	T	0.39600	0.1084	N	0.20357	0.565	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.36432	-0.9748	10	0.87932	D	0	-15.405	19.7137	0.96107	0.0:1.0:0.0:0.0	.	133	Q99757	THIOM_HUMAN	M	133	ENSP00000216185:V133M;ENSP00000385393:V133M	ENSP00000216185:V133M	V	-	1	0	TXN2	35193901	1.000000	0.71417	0.997000	0.53966	0.072000	0.16883	7.360000	0.79487	2.655000	0.90218	0.462000	0.41574	GTG		0.557	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		23	37	0	0	0	1	0	23	37				
TDRD5	163589	broad.mit.edu	37	1	179621230	179621230	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:179621230G>A	ENST00000367614.1	+	13	2417	c.2058G>A	c.(2056-2058)gaG>gaA	p.E686E	TDRD5_ENST00000444136.1_Silent_p.E686E|TDRD5_ENST00000294848.8_Silent_p.E686E	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	686					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)				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						GAGGGCCAGAGGACATTGTCT	0.408																																						ENST00000444136.1																			0				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						c.(2056-2058)gaG>gaA		tudor domain containing 5							104.0	98.0	100.0					1																	179621230		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179621230G>A	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.2058G>A	1.37:g.179621230G>A						TDRD5_ENST00000367614.1_Silent_p.E686E|TDRD5_ENST00000294848.8_Silent_p.E686E	p.E686E	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			13	2308	+			686					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.2058G>A	CCDS1332.1																																																																																				0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		7	66	0	0	0	1	0	7	66				
DDX50	79009	broad.mit.edu	37	10	70694646	70694646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:70694646G>A	ENST00000373585.3	+	10	1600	c.1493G>A	c.(1492-1494)gGt>gAt	p.G498D	DDX50_ENST00000466265.1_Intron	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	498	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGAGAAAGAGGTCAACTAAGA	0.368																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1492-1494)gGt>gAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							120.0	129.0	126.0					10																	70694646		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70694646G>A	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.1493G>A	10.37:g.70694646G>A	ENSP00000362687:p.Gly498Asp					DDX50_ENST00000466265.1_Intron	p.G498D	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			10	1600	+			498			Helicase C-terminal.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1493G>A	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.260220	0.39995	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.04234	3.67	5.33	5.33	0.75918	Helicase, C-terminal (1);	0.374576	0.33092	N	0.005284	T	0.03871	0.0109	L	0.28192	0.835	0.37635	D	0.921827	B	0.02656	0.0	B	0.04013	0.001	T	0.42068	-0.9473	10	0.35671	T	0.21	-8.9371	7.2658	0.26229	0.2055:0.0:0.7945:0.0	.	498	Q9BQ39	DDX50_HUMAN	D	498	ENSP00000362687:G498D	ENSP00000362687:G498D	G	+	2	0	DDX50	70364652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.544000	0.60691	2.650000	0.89964	0.655000	0.94253	GGT		0.368	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		38	73	0	0	0	1	0	38	73				
LHFPL3	375612	broad.mit.edu	37	7	104377292	104377292	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:104377292C>T	ENST00000401970.2	+	2	696	c.574C>T	c.(574-576)Cta>Tta	p.L192L	LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000535008.1_Silent_p.L206L|LHFPL3_ENST00000543266.1_Silent_p.L206L|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000424859.1_Silent_p.L192L			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	206						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						CCTCTCATTTCTAGCATTTGT	0.453																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(616-618)Cta>Tta		lipoma HMGIC fusion partner-like 3							74.0	73.0	73.0					7																	104377292		1947	4160	6107	SO:0001819	synonymous_variant	375612					integral to membrane		g.chr7:104377292C>T	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.574C>T	7.37:g.104377292C>T						LHFPL3_ENST00000424859.1_Silent_p.L192L|LHFPL3_ENST00000543266.1_Silent_p.L206L|LHFPL3_ENST00000401970.2_Silent_p.L192L	p.L206L			Q86UP9	LHPL3_HUMAN			4	740	+			192					A1L383|A4D0Q5	Silent	SNP	ENST00000401970.2	37	c.616C>T																																																																																					0.453	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		5	25	0	0	0	1	0	5	25				
PCED1A	64773	broad.mit.edu	37	20	2816209	2816209	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2816209C>T	ENST00000360652.2	-	8	1766	c.1264G>A	c.(1264-1266)Ggg>Agg	p.G422R	PCED1A_ENST00000356872.3_Missense_Mutation_p.G371R	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	422																	CAGGGCCCCCCCATTCTCCGC	0.617																																						ENST00000360652.2																			0											c.(1264-1266)Ggg>Agg		PC-esterase domain containing 1A							62.0	59.0	60.0					20																	2816209		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2816209C>T	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1264G>A	20.37:g.2816209C>T	ENSP00000353868:p.Gly422Arg					PCED1A_ENST00000356872.3_Missense_Mutation_p.G371R	p.G422R	NM_022760.3	NP_073597.2					8	1766	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.1264G>A	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531343	0.45073	.	.	ENSG00000132635	ENST00000356872;ENST00000360652	T;T	0.47177	0.85;0.85	3.81	3.81	0.43845	.	0.288563	0.25277	N	0.031821	T	0.58221	0.2107	L	0.44542	1.39	0.21325	N	0.999721	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.46816	-0.9164	10	0.66056	D	0.02	-1.2342	11.4882	0.50367	0.0:1.0:0.0:0.0	.	371;418;269;422	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	R	371;422	ENSP00000349334:G371R;ENSP00000353868:G422R	ENSP00000349334:G371R	G	-	1	0	FAM113A	2764209	0.213000	0.23551	0.309000	0.25155	0.443000	0.32047	1.892000	0.39748	2.424000	0.82194	0.555000	0.69702	GGG		0.617	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		4	33	0	0	0	1	0	4	33				
HIVEP1	3096	broad.mit.edu	37	6	12131092	12131092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:12131092G>A	ENST00000379388.2	+	6	6634	c.6302G>A	c.(6301-6303)aGc>aAc	p.S2101N	HIVEP1_ENST00000541134.1_5'UTR	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2101					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGAAACCTAGCATGTTAAAG	0.383																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(6301-6303)aGc>aAc		human immunodeficiency virus type I enhancer binding protein 1							186.0	176.0	179.0					6																	12131092		1930	4136	6066	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12131092G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6302G>A	6.37:g.12131092G>A	ENSP00000368698:p.Ser2101Asn					HIVEP1_ENST00000541134.1_5'UTR	p.S2101N	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			6	6634	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2101					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6302G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547021	0.96488	.	.	ENSG00000095951	ENST00000379388;ENST00000542327	T	0.32515	1.45	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000710	T	0.53029	0.1771	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51458	-0.8703	10	0.87932	D	0	-25.4379	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2101	P15822	ZEP1_HUMAN	N	2101;83	ENSP00000368698:S2101N	ENSP00000368698:S2101N	S	+	2	0	HIVEP1	12239078	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	AGC		0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		6	98	0	0	0	1	0	6	98				
TMEM183A	92703	broad.mit.edu	37	1	202987654	202987654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:202987654C>T	ENST00000367242.3	+	6	834	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	252						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CAGACAGGAACCAATGTGGGA	0.313																																						ENST00000367242.3																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7						c.(754-756)Cca>Tca		transmembrane protein 183A							129.0	130.0	130.0					1																	202987654		2203	4300	6503	SO:0001583	missense	92703							g.chr1:202987654C>T	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.754C>T	1.37:g.202987654C>T	ENSP00000356211:p.Pro252Ser						p.P252S	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			BRCA - Breast invasive adenocarcinoma(75;0.18)		6	834	+								A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	c.754C>T	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	C	2.342	-0.350819	0.05173	.	.	ENSG00000163444	ENST00000367242	T	0.20463	2.07	5.53	5.53	0.82687	.	0.432641	0.27807	N	0.017765	T	0.10294	0.0252	N	0.19112	0.55	0.30271	N	0.792238	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.29366	-1.0014	10	0.08381	T	0.77	-5.3254	5.2174	0.15350	0.1497:0.6285:0.1443:0.0775	.	252;252	Q1AE95;Q8IXX5	T183B_HUMAN;T183A_HUMAN	S	252	ENSP00000356211:P252S	ENSP00000356211:P252S	P	+	1	0	TMEM183A	201254277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.105000	0.31086	2.759000	0.94783	0.650000	0.86243	CCA		0.313	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		4	95	0	0	0	1	0	4	95				
SECISBP2L	9728	broad.mit.edu	37	15	49327704	49327704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:49327704C>T	ENST00000559471.1	-	3	618	c.355G>A	c.(355-357)Gtt>Att	p.V119I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.V119I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	119							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AAACCCATAACCTGGGCACAT	0.458																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(355-357)Gtt>Att		SECIS binding protein 2-like							150.0	140.0	143.0					15																	49327704		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49327704C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.355G>A	15.37:g.49327704C>T	ENSP00000453854:p.Val119Ile					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.V119I	p.V119I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			3	618	-			119					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.355G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201072	0.94997	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.78126	-1.15	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83510	0.5270	L	0.34521	1.04	0.58432	D	0.999994	D;D	0.67145	0.995;0.996	D;D	0.77557	0.984;0.99	D	0.83985	0.0334	10	0.52906	T	0.07	.	19.5491	0.95310	0.0:1.0:0.0:0.0	.	119;119	Q93073;Q93073-2	SBP2L_HUMAN;.	I	119	ENSP00000261847:V119I	ENSP00000261847:V119I	V	-	1	0	SECISBP2L	47114996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.511000	0.67024	2.616000	0.88540	0.655000	0.94253	GTT		0.458	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		4	112	0	0	0	1	0	4	112				
MFN2	9927	broad.mit.edu	37	1	12064109	12064109	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:12064109G>A	ENST00000235329.5	+	12	1543	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	MFN2_ENST00000444836.1_Silent_p.Q407Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	407					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGACAAACAGCTGGAGCTCT	0.473																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(1219-1221)caG>caA		mitofusin 2							71.0	73.0	72.0					1																	12064109		2203	4300	6503	SO:0001819	synonymous_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12064109G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1221G>A	1.37:g.12064109G>A						MFN2_ENST00000444836.1_Silent_p.Q407Q	p.Q407Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	12	1543	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	407					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	c.1221G>A	CCDS30587.1																																																																																				0.473	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		31	50	0	0	0	1	0	31	50				
CD59	966	broad.mit.edu	37	11	33738963	33738963	+	Missense_Mutation	SNP	G	G	A	rs77450648		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:33738963G>A	ENST00000395850.3	-	3	197	c.122C>T	c.(121-123)gCc>gTc	p.A41V	CD59_ENST00000351554.3_Missense_Mutation_p.A41V|CD59_ENST00000533403.1_Missense_Mutation_p.A41V|CD59_ENST00000415002.2_Missense_Mutation_p.A41V|CD59_ENST00000445143.2_Missense_Mutation_p.A41V|CD59_ENST00000534312.1_Missense_Mutation_p.A41V|CD59_ENST00000527577.1_Missense_Mutation_p.A41V|CD59_ENST00000426650.2_Missense_Mutation_p.A41V|CD59_ENST00000528700.1_Missense_Mutation_p.A41V|CD59_ENST00000437761.2_Missense_Mutation_p.A41V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	41	UPAR/Ly6.				blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						ACAATTGACGGCTGTTTTGCA	0.458																																						ENST00000395850.3																			0				endometrium(1)|lung(2)	3						c.(121-123)gCc>gTc		CD59 molecule, complement regulatory protein							101.0	90.0	94.0					11																	33738963		2202	4298	6500	SO:0001583	missense	966				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		g.chr11:33738963G>A		CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"""CD molecules"", ""Complement system"""	1689	protein-coding gene	gene with protein product		107271	"""CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)"", ""CD59 antigen, complement regulatory protein"""	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.122C>T	11.37:g.33738963G>A	ENSP00000379191:p.Ala41Val					CD59_ENST00000527577.1_Missense_Mutation_p.A41V|CD59_ENST00000533403.1_Missense_Mutation_p.A41V|CD59_ENST00000437761.2_Missense_Mutation_p.A41V|CD59_ENST00000426650.2_Missense_Mutation_p.A41V|CD59_ENST00000415002.2_Missense_Mutation_p.A41V|CD59_ENST00000351554.3_Missense_Mutation_p.A41V|CD59_ENST00000445143.2_Missense_Mutation_p.A41V|CD59_ENST00000534312.1_Missense_Mutation_p.A41V|CD59_ENST00000528700.1_Missense_Mutation_p.A41V	p.A41V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN			3	197	-			41			UPAR/Ly6.			Missense_Mutation	SNP	ENST00000395850.3	37	c.122C>T	CCDS7886.1	.	.	.	.	.	.	.	.	.	.	G	9.386	1.074209	0.20227	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000533403;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	3.99	-7.99	0.01131	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	1.181480	0.06024	N	0.651895	T	0.41880	0.1178	N	0.12182	0.205	0.09310	N	1	B;B	0.15473	0.013;0.001	B;B	0.15870	0.014;0.002	T	0.19745	-1.0296	10	0.29301	T	0.29	-9.9405	1.6846	0.02839	0.4767:0.1058:0.1398:0.2778	.	41;41	E9PI80;P13987	.;CD59_HUMAN	V	41	ENSP00000432362:A41V;ENSP00000437122:A41V;ENSP00000379191:A41V;ENSP00000436737:A41V;ENSP00000340210:A41V;ENSP00000404822:A41V;ENSP00000403511:A41V;ENSP00000402425:A41V;ENSP00000410182:A41V;ENSP00000432942:A41V;ENSP00000434617:A41V	ENSP00000340210:A41V	A	-	2	0	CD59	33695539	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.246000	0.00541	-1.962000	0.01014	-0.367000	0.07326	GCC		0.458	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	NM_203329		13	43	0	0	0	1	0	13	43				
CHD4	1108	broad.mit.edu	37	12	6690938	6690938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:6690938C>T	ENST00000357008.2	-	31	4721	c.4558G>A	c.(4558-4560)Gaa>Aaa	p.E1520K	CHD4_ENST00000540960.1_5'Flank|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.E1548K|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.E1545K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1513K	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1520					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCAGCCAGTTCAGGCATGCTC	0.532																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4642-4644)Gaa>Aaa		chromodomain helicase DNA binding protein 4							155.0	151.0	152.0					12																	6690938		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690938C>T	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.4558G>A	12.37:g.6690938C>T	ENSP00000349508:p.Glu1520Lys					CHD4_ENST00000544484.1_Missense_Mutation_p.E1545K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1513K|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Missense_Mutation_p.E1520K	p.E1548K			Q14839	CHD4_HUMAN			30	4805	-			1520					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4642G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.920905	0.73213	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.91295	-2.82;-2.79;-2.82;-2.79	5.76	5.76	0.90799	Domain of unknown function DUF1086 (1);	0.133235	0.53938	D	0.000057	D	0.94627	0.8268	M	0.74881	2.28	0.50039	D	0.999844	D;D;P	0.58268	0.982;0.978;0.886	P;P;B	0.59171	0.731;0.853;0.366	D	0.94582	0.7780	10	0.72032	D	0.01	-9.6128	19.9813	0.97326	0.0:1.0:0.0:0.0	.	1548;1520;1513	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	K	1545;1513;1548;1520;1494	ENSP00000440392:E1545K;ENSP00000440542:E1513K;ENSP00000312419:E1548K;ENSP00000349508:E1520K	ENSP00000312419:E1548K	E	-	1	0	CHD4	6561199	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	5.977000	0.70492	2.726000	0.93360	0.655000	0.94253	GAA		0.532	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		40	74	0	0	0	1	0	40	74				
SAMD8	142891	broad.mit.edu	37	10	76924485	76924485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:76924485C>T	ENST00000542569.1	+	3	764	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	SAMD8_ENST00000372687.4_Missense_Mutation_p.L221F|SAMD8_ENST00000372690.3_Missense_Mutation_p.L284F	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	221					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGTTCTTCTTCTTCACAAGCA	0.403																																						ENST00000542569.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(661-663)Ctt>Ttt		sterile alpha motif domain containing 8							219.0	190.0	200.0					10																	76924485		2203	4300	6503	SO:0001583	missense	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76924485C>T	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.661C>T	10.37:g.76924485C>T	ENSP00000438042:p.Leu221Phe					SAMD8_ENST00000372687.3_Missense_Mutation_p.L221F|SAMD8_ENST00000372690.3_Missense_Mutation_p.L284F	p.L221F	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN			3	764	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		221					Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.661C>T	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	C	6.730	0.503424	0.12822	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.92064	0.7485	N	0.26042	0.785	0.49483	D	0.999798	D;B	0.57571	0.98;0.002	P;B	0.60068	0.868;0.005	D	0.88257	0.2920	10	0.02654	T	1	-22.0273	17.8372	0.88701	0.0:1.0:0.0:0.0	.	221;221	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	F	221;284;221;221	ENSP00000391799:L221F;ENSP00000361775:L284F;ENSP00000438042:L221F;ENSP00000361772:L221F	ENSP00000361772:L221F	L	+	1	0	SAMD8	76594491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.532000	0.60608	2.315000	0.78130	0.591000	0.81541	CTT		0.403	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		8	81	0	0	0	1	0	8	81				
FN1	2335	broad.mit.edu	37	2	216292945	216292945	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216292945A>T	ENST00000359671.1	-	6	1067	c.802T>A	c.(802-804)Tgg>Agg	p.W268R	FN1_ENST00000346544.3_Missense_Mutation_p.W268R|FN1_ENST00000345488.5_Missense_Mutation_p.W268R|FN1_ENST00000443816.1_Missense_Mutation_p.W268R|FN1_ENST00000357867.4_Missense_Mutation_p.W268R|FN1_ENST00000446046.1_Missense_Mutation_p.W268R|FN1_ENST00000421182.1_Missense_Mutation_p.W268R|FN1_ENST00000426059.1_Missense_Mutation_p.W268R|FN1_ENST00000432072.2_Missense_Mutation_p.W268R|FN1_ENST00000354785.4_Missense_Mutation_p.W268R|FN1_ENST00000323926.6_Missense_Mutation_p.W268R|FN1_ENST00000356005.4_Missense_Mutation_p.W268R|FN1_ENST00000336916.4_Missense_Mutation_p.W268R|FN1_ENST00000357009.2_Missense_Mutation_p.W268R			P02751	FINC_HUMAN	fibronectin 1	268	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCACACTTCCACTCTCCTCGG	0.552																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(802-804)Tgg>Agg		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						126.0	107.0	113.0					2																	216292945		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216292945A>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.802T>A	2.37:g.216292945A>T	ENSP00000352696:p.Trp268Arg					FN1_ENST00000356005.4_Missense_Mutation_p.W268R|FN1_ENST00000359671.1_Missense_Mutation_p.W268R|FN1_ENST00000432072.2_Missense_Mutation_p.W268R|FN1_ENST00000346544.3_Missense_Mutation_p.W268R|FN1_ENST00000323926.6_Missense_Mutation_p.W268R|FN1_ENST00000357867.4_Missense_Mutation_p.W268R|FN1_ENST00000345488.5_Missense_Mutation_p.W268R|FN1_ENST00000443816.1_Missense_Mutation_p.W268R|FN1_ENST00000336916.4_Missense_Mutation_p.W268R|FN1_ENST00000421182.1_Missense_Mutation_p.W268R|FN1_ENST00000446046.1_Missense_Mutation_p.W268R|FN1_ENST00000357009.2_Missense_Mutation_p.W268R|FN1_ENST00000426059.1_Missense_Mutation_p.W268R	p.W268R			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1171	-		Renal(323;0.127)	268			Fibrin- and heparin-binding 1.|Fibronectin type-I 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.802T>A		.	.	.	.	.	.	.	.	.	.	A	31	5.072210	0.93950	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	T	0.70552	0.3237	M	0.79258	2.445	0.80722	D	1	D;D;D;P;D;D;D;P;D;D;D	0.89917	1.0;0.999;0.99;0.815;1.0;1.0;1.0;0.909;1.0;1.0;0.997	D;D;D;P;D;D;D;P;D;D;D	0.97110	1.0;0.998;0.943;0.674;0.999;1.0;1.0;0.837;0.999;0.999;0.998	T	0.74293	-0.3712	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	268;268;268;268;268;268;268;268;268;268;268	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	R	268	ENSP00000394423:W268R;ENSP00000323534:W268R;ENSP00000338200:W268R;ENSP00000350534:W268R;ENSP00000346839:W268R;ENSP00000352696:W268R;ENSP00000265312:W268R;ENSP00000273049:W268R;ENSP00000349509:W268R;ENSP00000410422:W268R;ENSP00000415018:W268R;ENSP00000399538:W268R;ENSP00000348285:W268R;ENSP00000398907:W268R	ENSP00000265313:W268R	W	-	1	0	FN1	216001190	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.910000	0.92685	2.371000	0.80710	0.533000	0.62120	TGG		0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		35	52	0	0	0	1	0	35	52				
IGHV3-64	28414	broad.mit.edu	37	14	107113904	107113904	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:107113904C>T	ENST00000454421.2	-	0	267									immunoglobulin heavy variable 3-64																		ATATTCCAGTCCCTTCCCTGG	0.517																																						ENST00000454421.2																			0																				211.0	239.0	230.0					14																	107113904		1946	4219	6165			0							g.chr14:107113904C>T	M99682		14q32.33	2012-02-08			ENSG00000223648	ENSG00000223648		"""Immunoglobulins / IGH locus"""	5617	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151971		14.37:g.107113904C>T														0	267	-									RNA	SNP	ENST00000454421.2	37																																																																																						0.517	IGHV3-64-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324617.1	NG_001019		4	93	0	0	0	1	0	4	93				
ARHGAP17	55114	broad.mit.edu	37	16	24980003	24980003	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:24980003G>A	ENST00000289968.6	-	5	432	c.363C>T	c.(361-363)gaC>gaT	p.D121D	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Silent_p.D121D|ARHGAP17_ENST00000441763.2_Silent_p.D121D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	121	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CGTACAGAGGGTCCACGATCT	0.517																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(361-363)gaC>gaT		Rho GTPase activating protein 17							133.0	112.0	120.0					16																	24980003		2197	4300	6497	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24980003G>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.363C>T	16.37:g.24980003G>A						ARHGAP17_ENST00000441763.2_Silent_p.D121D|ARHGAP17_ENST00000303665.5_Silent_p.D121D|ARHGAP17_ENST00000575975.1_5'UTR	p.D121D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	5	432	-			121			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.363C>T	CCDS32409.1																																																																																				0.517	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		4	133	0	0	0	1	0	4	133				
NLRP1	22861	broad.mit.edu	37	17	5424895	5424895	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5424895C>T	ENST00000572272.1	-	13	3731	c.3732G>A	c.(3730-3732)gaG>gaA	p.E1244E	NLRP1_ENST00000577119.1_Silent_p.E1214E|NLRP1_ENST00000354411.3_Silent_p.E1214E|NLRP1_ENST00000262467.5_Silent_p.E1248E|NLRP1_ENST00000269280.4_Silent_p.E1244E|NLRP1_ENST00000345221.3_Silent_p.E1244E			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1244					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGTGACTTCCTCAGGATGGA	0.552																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3730-3732)gaG>gaA		NLR family, pyrin domain containing 1							97.0	82.0	87.0					17																	5424895		2203	4300	6503	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5424895C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3732G>A	17.37:g.5424895C>T						NLRP1_ENST00000354411.3_Silent_p.E1214E|NLRP1_ENST00000269280.4_Silent_p.E1244E|NLRP1_ENST00000262467.5_Silent_p.E1248E|NLRP1_ENST00000572272.1_Silent_p.E1244E|NLRP1_ENST00000577119.1_Silent_p.E1214E	p.E1244E	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			13	4286	-		Colorectal(1115;3.48e-05)	1244					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.3732G>A	CCDS42246.1																																																																																				0.552	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		4	67	0	0	0	1	0	4	67				
ATP6AP2	10159	broad.mit.edu	37	X	40448292	40448292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:40448292G>A	ENST00000378438.4	+	2	250	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.R31Q|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.R31Q|ATP6AP2_ENST00000544975.1_Intron|ATP6AP2_ENST00000486558.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	31					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						GTTGTTTTCCGAAATGGAAAT	0.373																																						ENST00000378438.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(91-93)cGa>cAa		ATPase, H+ transporting, lysosomal accessory protein 2							79.0	74.0	76.0					X																	40448292		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40448292G>A	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.92G>A	X.37:g.40448292G>A	ENSP00000367697:p.Arg31Gln					ATP6AP2_ENST00000544975.1_Intron|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.R31Q|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.R31Q|ATP6AP2_ENST00000486558.1_Intron	p.R31Q	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN			2	250	+			31					B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.92G>A	CCDS14252.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893056	0.52121	.	.	ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000436783;ENST00000535777;ENST00000538655	T;T;T;T	0.42900	1.55;1.57;0.96;1.56	4.99	4.99	0.66335	.	0.082277	0.52532	D	0.000061	T	0.26955	0.0660	N	0.14661	0.345	0.80722	D	1	B;B;B	0.24533	0.105;0.026;0.032	B;B;B	0.15484	0.013;0.002;0.001	T	0.06006	-1.0851	10	0.23891	T	0.37	-21.3509	15.9333	0.79683	0.0:0.0:1.0:0.0	.	31;31;31	B7Z1I9;B7Z9I3;O75787	.;.;RENR_HUMAN	Q	31;31;63;31;31	ENSP00000438415:R31Q;ENSP00000367697:R31Q;ENSP00000403969:R63Q;ENSP00000441536:R31Q	ENSP00000367697:R31Q	R	+	2	0	ATP6AP2	40333236	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.481000	0.66826	2.213000	0.71641	0.529000	0.55759	CGA		0.373	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		37	48	0	0	0	1	0	37	48				
TTI1	9675	broad.mit.edu	37	20	36640116	36640116	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:36640116C>T	ENST00000373448.2	-	3	2341	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	TTI1_ENST00000449821.1_Silent_p.G701G|TTI1_ENST00000487362.1_5'Flank|TTI1_ENST00000373447.3_Silent_p.G701G	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	701					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTAAAGAGATCCCATTCACTA	0.502																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2101-2103)ggG>ggA		TELO2 interacting protein 1							78.0	65.0	70.0					20																	36640116		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36640116C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2103G>A	20.37:g.36640116C>T						TTI1_ENST00000449821.1_Silent_p.G701G|TTI1_ENST00000373447.3_Silent_p.G701G	p.G701G	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2341	-			701					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.2103G>A	CCDS13300.1																																																																																				0.502	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		10	47	0	0	0	1	0	10	47				
DHX9	1660	broad.mit.edu	37	1	182856516	182856516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:182856516G>A	ENST00000367549.3	+	28	3870	c.3760G>A	c.(3760-3762)Ggg>Agg	p.G1254R	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1254	NTD.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGGTGGTAGGGGGGCCTATGG	0.527																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				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						c.(3760-3762)Ggg>Agg		DEAH (Asp-Glu-Ala-His) box helicase 9							50.0	58.0	56.0					1																	182856516		1871	4089	5960	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182856516G>A	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.3760G>A	1.37:g.182856516G>A	ENSP00000356520:p.Gly1254Arg					DHX9_ENST00000485081.1_3'UTR	p.G1254R	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			28	3870	+			1254			NTD.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.3760G>A	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652128	0.29336	.	.	ENSG00000135829	ENST00000367549	D	0.86432	-2.12	3.86	3.86	0.44501	.	0.074766	0.50627	D	0.000113	D	0.88265	0.6390	N	0.19112	0.55	0.80722	D	1	B;D	0.76494	0.306;0.999	B;D	0.83275	0.182;0.996	D	0.90330	0.4351	10	0.72032	D	0.01	.	15.3989	0.74823	0.0:0.0:1.0:0.0	.	533;1254	B3KU66;Q08211	.;DHX9_HUMAN	R	1254	ENSP00000356520:G1254R	ENSP00000356520:G1254R	G	+	1	0	DHX9	181123139	1.000000	0.71417	0.058000	0.19502	0.059000	0.15707	6.714000	0.74692	1.671000	0.50874	0.561000	0.74099	GGG		0.527	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		11	4	0	0	0	1	0	11	4				
DDI1	414301	broad.mit.edu	37	11	103908523	103908523	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:103908523C>T	ENST00000302259.3	+	1	1216	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	325							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGAGGATCAACCCATGGATAT	0.458																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(973-975)Ccc>Tcc		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							140.0	131.0	134.0					11																	103908523		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908523C>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.973C>T	11.37:g.103908523C>T	ENSP00000302805:p.Pro325Ser					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.P325S	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1216	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	325					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.973C>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490038	0.64074	.	.	ENSG00000170967	ENST00000302259	T	0.39592	1.07	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	L	0.51853	1.615	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	T	0.46470	-0.9189	10	0.32370	T	0.25	-7.7591	16.6709	0.85266	0.0:1.0:0.0:0.0	.	325	Q8WTU0	DDI1_HUMAN	S	325	ENSP00000302805:P325S	ENSP00000302805:P325S	P	+	1	0	DDI1	103413733	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	7.133000	0.77259	2.884000	0.98904	0.655000	0.94253	CCC		0.458	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		4	94	0	0	0	1	0	4	94				
VWA8	23078	broad.mit.edu	37	13	42390909	42390909	+	Silent	SNP	G	G	A	rs531753548		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:42390909G>A	ENST00000379310.3	-	16	1940	c.1872C>T	c.(1870-1872)gtC>gtT	p.V624V	VWA8_ENST00000281496.6_Silent_p.V624V	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	624						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GTACATTTGGGACCTATTTTT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		18146	0.0		0.0	False		,,,				2504	0.001					ENST00000379310.3																			0											c.(1870-1872)gtC>gtT		von Willebrand factor A domain containing 8							138.0	140.0	140.0					13																	42390909		2203	4300	6503	SO:0001819	synonymous_variant	23078							g.chr13:42390909G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1872C>T	13.37:g.42390909G>A						VWA8_ENST00000281496.6_Silent_p.V624V	p.V624V	NM_015058.1	NP_055873.1					16	1940	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.1872C>T	CCDS41881.1																																																																																				0.353	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		7	32	0	0	0	1	0	7	32				
C22orf31	25770	broad.mit.edu	37	22	29454988	29454988	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:29454988G>A	ENST00000216071.4	-	3	666	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	205										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GGAGACCATGGATGGTTAGCG	0.587																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(613-615)atC>atT		chromosome 22 open reading frame 31							106.0	98.0	101.0					22																	29454988		2203	4300	6503	SO:0001819	synonymous_variant	25770							g.chr22:29454988G>A	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.615C>T	22.37:g.29454988G>A							p.I205I	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			3	666	-			205					A0AV97	Silent	SNP	ENST00000216071.4	37	c.615C>T	CCDS13848.1																																																																																				0.587	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		28	121	0	0	0	1	0	28	121				
RAI2	10742	broad.mit.edu	37	X	17818950	17818950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:17818950G>A	ENST00000545871.1	-	3	1641	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	RAI2_ENST00000451717.1_Missense_Mutation_p.A394V|RAI2_ENST00000415486.3_Missense_Mutation_p.A344V|RAI2_ENST00000331511.1_Missense_Mutation_p.A394V|RAI2_ENST00000360011.1_Missense_Mutation_p.A394V	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	394					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CATGGCTGGGGCCTCATGGGA	0.542																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1180-1182)gCc>gTc		retinoic acid induced 2							62.0	59.0	60.0					X																	17818950		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17818950G>A	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1181C>T	X.37:g.17818950G>A	ENSP00000444210:p.Ala394Val					RAI2_ENST00000415486.3_Missense_Mutation_p.A344V|RAI2_ENST00000360011.1_Missense_Mutation_p.A394V|RAI2_ENST00000451717.1_Missense_Mutation_p.A394V|RAI2_ENST00000331511.1_Missense_Mutation_p.A394V	p.A394V	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	1641	-	Hepatocellular(33;0.183)		394					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1181C>T	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	g	11.35	1.612774	0.28712	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.29	5.29	0.74685	.	0.257885	0.32028	N	0.006685	T	0.30634	0.0771	L	0.47716	1.5	0.31882	N	0.618351	P;P	0.42296	0.775;0.617	B;B	0.42282	0.382;0.242	T	0.38265	-0.9669	10	0.38643	T	0.18	-22.8014	13.1537	0.59505	0.0:0.2823:0.7177:0.0	.	344;394	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	V	394;394;394;394;344	ENSP00000333456:A394V;ENSP00000353106:A394V;ENSP00000444210:A394V;ENSP00000401323:A394V;ENSP00000392578:A344V	ENSP00000333456:A394V	A	-	2	0	RAI2	17728871	0.916000	0.31088	0.694000	0.30210	0.674000	0.39518	2.920000	0.48844	2.457000	0.83068	0.597000	0.82753	GCC		0.542	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		15	107	0	0	0	1	0	15	107				
WDR86	349136	broad.mit.edu	37	7	151093227	151093227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151093227C>T	ENST00000334493.6	-	3	791	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	WDR86_ENST00000469830.2_Missense_Mutation_p.V121I|WDR86_ENST00000463000.1_5'Flank|WDR86_ENST00000477459.1_5'UTR	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	121										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACTCCAGACCCGAGCTGTC	0.642																																						ENST00000334493.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(361-363)Gtc>Atc		WD repeat domain 86							32.0	36.0	35.0					7																	151093227		2161	4271	6432	SO:0001583	missense	349136							g.chr7:151093227C>T	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.361G>A	7.37:g.151093227C>T	ENSP00000335522:p.Val121Ile					WDR86_ENST00000469830.2_Missense_Mutation_p.V121I|WDR86_ENST00000477459.1_5'UTR	p.V121I	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	791	-			121					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.361G>A	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	C	8.749	0.920934	0.17982	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.59772	0.24;0.24	4.86	3.89	0.44902	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.40498	0.1119	N	0.04043	-0.29	0.24577	N	0.993895	P;B;B	0.52170	0.951;0.006;0.383	P;B;B	0.51615	0.675;0.016;0.079	T	0.09885	-1.0654	8	.	.	.	-2.1266	5.2883	0.15714	0.4328:0.4517:0.0:0.1155	.	121;121;79	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	I	121	ENSP00000335522:V121I;ENSP00000419162:V121I	.	V	-	1	0	WDR86	150724160	0.953000	0.32496	0.554000	0.28268	0.482000	0.33219	2.064000	0.41432	0.977000	0.38444	0.313000	0.20887	GTC		0.642	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		8	77	0	0	0	1	0	8	77				
KLC3	147700	broad.mit.edu	37	19	45853683	45853683	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45853683C>T	ENST00000391946.2	+	9	1330	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000470402.1_Missense_Mutation_p.P424S|KLC3_ENST00000585434.1_Missense_Mutation_p.P409S	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	410					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTACCCGCCCCTCTCGGTGA	0.572																																						ENST00000470402.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(1270-1272)Cct>Tct		kinesin light chain 3							65.0	72.0	70.0					19																	45853683		1934	4126	6060	SO:0001583	missense	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45853683C>T	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1228C>T	19.37:g.45853683C>T	ENSP00000375810:p.Pro410Ser					KLC3_ENST00000585434.1_Missense_Mutation_p.P409S|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Missense_Mutation_p.P410S	p.P424S			Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	1370	+		Ovarian(192;0.0728)|all_neural(266;0.112)	410					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	c.1270C>T	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	4.952	0.176816	0.09443	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.82081	-1.55;-1.57	3.93	2.89	0.33648	.	0.206931	0.22197	N	0.063297	T	0.80396	0.4615	N	0.22421	0.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.73642	-0.3918	10	0.10902	T	0.67	1.158	7.1867	0.25803	0.0:0.8757:0.0:0.1243	.	409;424;410	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	S	410;424	ENSP00000375810:P410S;ENSP00000436019:P424S	ENSP00000375810:P410S	P	+	1	0	KLC3	50545523	0.032000	0.19561	0.844000	0.33320	0.033000	0.12548	1.899000	0.39818	0.854000	0.35336	0.462000	0.41574	CCT		0.572	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		8	54	0	0	0	1	0	8	54				
C2orf16	84226	broad.mit.edu	37	2	27800184	27800184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27800184G>A	ENST00000408964.2	+	1	796	c.745G>A	c.(745-747)Ggg>Agg	p.G249R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	249						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.G249W(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAGGATGTGGGGGAGTTATA	0.443																																						ENST00000408964.2																			2	Substitution - Missense(2)	p.G249W(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(745-747)Ggg>Agg		chromosome 2 open reading frame 16							91.0	88.0	89.0					2																	27800184		1916	4112	6028	SO:0001583	missense	84226							g.chr2:27800184G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.745G>A	2.37:g.27800184G>A	ENSP00000386190:p.Gly249Arg						p.G249R	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	796	+	Acute lymphoblastic leukemia(172;0.155)		249					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.745G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	1.981	-0.434070	0.04669	.	.	ENSG00000221843	ENST00000408964	T	0.12984	2.63	4.38	-0.588	0.11687	.	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.45116	-0.9283	9	0.08837	T	0.75	.	6.8366	0.23939	0.6126:0.0:0.3874:0.0	.	249	Q68DN1	CB016_HUMAN	R	249	ENSP00000386190:G249R	ENSP00000386190:G249R	G	+	1	0	C2orf16	27653688	0.006000	0.16342	0.000000	0.03702	0.077000	0.17291	0.252000	0.18278	-0.000000	0.14550	0.563000	0.77884	GGG		0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		42	69	0	0	0	1	0	42	69				
HIST1H1D	3007	broad.mit.edu	37	6	26234561	26234561	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:26234561C>T	ENST00000244534.5	-	1	655	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	201					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTAGGCTTGGCCGCCTTGGGC	0.502																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(601-603)Gcc>Acc		histone cluster 1, H1d							79.0	86.0	84.0					6																	26234561		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234561C>T	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.601G>A	6.37:g.26234561C>T	ENSP00000244534:p.Ala201Thr						p.A201T	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	655	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	201					B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.601G>A	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	1.425	-0.571928	0.03882	.	.	ENSG00000124575	ENST00000244534	T	0.18174	2.23	5.12	2.11	0.27256	.	0.564448	0.17613	N	0.167987	T	0.02342	0.0072	N	0.08118	0	0.34310	D	0.685376	B	0.27853	0.191	B	0.28465	0.09	T	0.44832	-0.9302	10	0.12430	T	0.62	-6.6515	9.8369	0.40975	0.3021:0.5683:0.1296:0.0	.	201	P16402	H13_HUMAN	T	201	ENSP00000244534:A201T	ENSP00000244534:A201T	A	-	1	0	HIST1H1D	26342540	0.467000	0.25831	0.032000	0.17829	0.039000	0.13416	1.164000	0.31810	0.181000	0.19994	0.650000	0.86243	GCC		0.502	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		4	135	0	0	0	1	0	4	135				
RRAGD	58528	broad.mit.edu	37	6	90090060	90090060	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:90090060C>T	ENST00000369415.4	-	3	747	c.471G>A	c.(469-471)agG>agA	p.R157R	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Silent_p.R6R	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TGAGGTGGAGCCTGGCCAGGG	0.512																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(469-471)agG>agA		Ras-related GTP binding D							75.0	68.0	71.0					6																	90090060		2203	4300	6503	SO:0001819	synonymous_variant	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90090060C>T	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.471G>A	6.37:g.90090060C>T						RRAGD_ENST00000359203.2_Silent_p.R6R|RRAGD_ENST00000492783.1_5'UTR	p.R157R	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	3	747	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	157						Silent	SNP	ENST00000369415.4	37	c.471G>A	CCDS5022.1																																																																																				0.512	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		15	52	0	0	0	1	0	15	52				
ENGASE	64772	broad.mit.edu	37	17	77078012	77078012	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:77078012C>T	ENST00000579016.1	+	7	905	c.905C>T	c.(904-906)aCt>aTt	p.T302I	ENGASE_ENST00000539857.2_Missense_Mutation_p.T116I	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	302	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGCTTCTTCACTAACTATAAC	0.617																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(904-906)aCt>aTt		endo-beta-N-acetylglucosaminidase							97.0	115.0	109.0					17																	77078012		1975	4169	6144	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77078012C>T	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.905C>T	17.37:g.77078012C>T	ENSP00000462333:p.Thr302Ile					ENGASE_ENST00000539857.2_Missense_Mutation_p.T116I	p.T302I	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			7	905	+			302			BRCT.		Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.905C>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650775	0.47362	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.34	4.34	0.51931	Glycoside hydrolase, family 85 (1);	0.108661	0.64402	D	0.000009	T	0.63498	0.2516	L	0.48218	1.51	0.44024	D	0.996749	D;D;B	0.56287	0.961;0.975;0.357	P;P;B	0.62560	0.714;0.904;0.444	T	0.57183	-0.7855	9	0.17369	T	0.5	-5.2981	12.6065	0.56527	0.0:0.9166:0.0:0.0834	.	116;302;302	B4DVK0;Q8NFI3;Q8NFI3-3	.;ENASE_HUMAN;.	I	302	.	ENSP00000308158:T302I	T	+	2	0	ENGASE	74589607	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	5.276000	0.65580	2.263000	0.75096	0.313000	0.20887	ACT		0.617	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		5	143	0	0	0	1	0	5	143				
BIRC6	57448	broad.mit.edu	37	2	32824921	32824921	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:32824921G>A	ENST00000421745.2	+	70	14080	c.13946G>A	c.(13945-13947)gGt>gAt	p.G4649D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4649	Ubiquitin-conjugating.				apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGACAACTGGTGGTCATAGC	0.398																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13945-13947)gGt>gAt		baculoviral IAP repeat containing 6							115.0	107.0	110.0					2																	32824921		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32824921G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13946G>A	2.37:g.32824921G>A	ENSP00000393596:p.Gly4649Asp						p.G4649D	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			70	14080	+	Acute lymphoblastic leukemia(172;0.155)		4649			Ubiquitin-conjugating.		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13946G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	34	5.343260	0.95783	.	.	ENSG00000115760	ENST00000421745	T	0.78126	-1.15	5.69	5.69	0.88448	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.88239	0.6383	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88542	0.3110	10	0.72032	D	0.01	.	19.8228	0.96604	0.0:0.0:1.0:0.0	.	4649	Q9NR09	BIRC6_HUMAN	D	4649	ENSP00000393596:G4649D	ENSP00000393596:G4649D	G	+	2	0	BIRC6	32678425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.668000	0.90789	0.650000	0.86243	GGT		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		16	25	0	0	0	1	0	16	25				
PCDHGB7	56099	broad.mit.edu	37	5	140798064	140798064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140798064C>T	ENST00000398594.2	+	1	638	c.638C>T	c.(637-639)aCc>aTc	p.T213I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	213	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTACTGACCGCCTTAGAT	0.517																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(637-639)aCc>aTc									72.0	73.0	73.0					5																	140798064		1945	4144	6089	SO:0001583	missense	0							g.chr5:140798064C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.638C>T	5.37:g.140798064C>T	ENSP00000381594:p.Thr213Ile					PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.T213I	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	638	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.638C>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	15.83	2.948807	0.53186	.	.	ENSG00000254122	ENST00000398594	T	0.20463	2.07	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.33772	U	0.004571	T	0.42471	0.1204	M	0.64404	1.975	0.26571	N	0.973553	P;P	0.50156	0.932;0.917	P;P	0.57283	0.817;0.584	T	0.16424	-1.0403	10	0.52906	T	0.07	.	19.7483	0.96259	0.0:1.0:0.0:0.0	.	213;213	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	I	213	ENSP00000381594:T213I	ENSP00000381594:T213I	T	+	2	0	PCDHGB7	140778248	0.953000	0.32496	0.774000	0.31636	0.518000	0.34316	2.535000	0.45685	2.779000	0.95612	0.655000	0.94253	ACC		0.517	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		15	55	0	0	0	1	0	15	55				
CYP4Z1	199974	broad.mit.edu	37	1	47560273	47560273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:47560273G>A	ENST00000334194.3	+	7	811	c.808G>A	c.(808-810)Gat>Aat	p.D270N	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	270						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GTCTCTTAAGGATAAGCTAAA	0.373																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(808-810)Gat>Aat		cytochrome P450, family 4, subfamily Z, polypeptide 1							55.0	56.0	56.0					1																	47560273		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47560273G>A	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.808G>A	1.37:g.47560273G>A	ENSP00000334246:p.Asp270Asn						p.D270N	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			7	811	+			270					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.808G>A	CCDS545.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885027	0.17540	.	.	ENSG00000186160	ENST00000334194	T	0.68624	-0.34	2.06	-1.57	0.08506	.	0.580733	0.14438	U	0.319599	T	0.30634	0.0771	N	0.03050	-0.425	0.09310	N	0.999994	B	0.21381	0.055	B	0.17433	0.018	T	0.19257	-1.0311	10	0.15066	T	0.55	.	2.997	0.06001	0.3913:0.0:0.4057:0.203	.	270	Q86W10	CP4Z1_HUMAN	N	270	ENSP00000334246:D270N	ENSP00000334246:D270N	D	+	1	0	CYP4Z1	47332860	0.000000	0.05858	0.004000	0.12327	0.587000	0.36485	-0.265000	0.08644	-0.200000	0.10300	0.297000	0.19635	GAT		0.373	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		5	51	0	0	0	1	0	5	51				
RELN	5649	broad.mit.edu	37	7	103216004	103216004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:103216004C>T	ENST00000428762.1	-	29	4453	c.4294G>A	c.(4294-4296)Gga>Aga	p.G1432R	RELN_ENST00000424685.2_Missense_Mutation_p.G1432R|RELN_ENST00000343529.5_Missense_Mutation_p.G1432R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1432	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGTATATCCCAGGTCACAG	0.418																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(4294-4296)Gga>Aga		reelin							122.0	107.0	112.0					7																	103216004		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103216004C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4294G>A	7.37:g.103216004C>T	ENSP00000392423:p.Gly1432Arg					RELN_ENST00000343529.5_Missense_Mutation_p.G1432R|RELN_ENST00000428762.1_Missense_Mutation_p.G1432R	p.G1432R			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	29	4453	-			1432			EGF-like 3.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4294G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287285	0.80803	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.55588	0.51;0.51;0.51	5.52	5.52	0.82312	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.976;0.999	T	0.81185	-0.1048	10	0.87932	D	0	.	19.8119	0.96549	0.0:1.0:0.0:0.0	.	1432;1432	P78509-2;P78509	.;RELN_HUMAN	R	1432	ENSP00000392423:G1432R;ENSP00000345694:G1432R;ENSP00000388446:G1432R	ENSP00000345694:G1432R	G	-	1	0	RELN	103003240	1.000000	0.71417	0.999000	0.59377	0.561000	0.35649	7.445000	0.80570	2.756000	0.94617	0.563000	0.77884	GGA		0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		14	77	0	0	0	1	0	14	77				
PCDH7	5099	broad.mit.edu	37	4	30724316	30724316	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:30724316C>T	ENST00000361762.2	+	1	2280	c.1272C>T	c.(1270-1272)ccC>ccT	p.P424P	PCDH7_ENST00000543491.1_Silent_p.P424P	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGCGCATCCCCCTCAAGGACG	0.627																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1270-1272)ccC>ccT		protocadherin 7							44.0	43.0	44.0					4																	30724316		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724316C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1272C>T	4.37:g.30724316C>T						PCDH7_ENST00000543491.1_Silent_p.P424P	p.P424P	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2280	+			424			Cadherin 4.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.1272C>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	2.037	-0.420962	0.04734	.	.	ENSG00000169851	ENST00000511884	T	0.53640	0.61	5.48	-11.0	0.00169	.	.	.	.	.	T	0.22044	0.0531	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18272	-1.0342	6	0.08179	T	0.78	.	7.4534	0.27252	0.2163:0.2231:0.496:0.0645	.	.	.	.	S	114	ENSP00000427066:P114S	ENSP00000427066:P114S	P	+	1	0	PCDH7	30333414	0.000000	0.05858	0.285000	0.24819	0.793000	0.44817	-2.095000	0.01350	-3.097000	0.00245	-2.175000	0.00321	CCT		0.627	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		8	22	0	0	0	1	0	8	22				
ZNF761	388561	broad.mit.edu	37	19	53958902	53958902	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:53958902C>T	ENST00000454407.1	+	0	1594							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGGAGAGAAACCCTACAAATG	0.413																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							158.0	158.0	158.0					19																	53958902		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958902C>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958902C>T										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1594	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.413	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		18	210	0	0	0	1	0	18	210				
DGKD	8527	broad.mit.edu	37	2	234359632	234359632	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:234359632C>T	ENST00000264057.2	+	17	2115	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	DGKD_ENST00000409813.3_Silent_p.S657S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	701					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTCTGCTTCCCTTCCGCCCC	0.592																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2101-2103)tcC>tcT		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						119.0	111.0	114.0					2																	234359632		2203	4300	6503	SO:0001819	synonymous_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234359632C>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2103C>T	2.37:g.234359632C>T						DGKD_ENST00000409813.3_Silent_p.S657S	p.S701S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	17	2115	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	701					Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	c.2103C>T	CCDS2504.1																																																																																				0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		6	130	0	0	0	1	0	6	130				
RSC1A1	6248	broad.mit.edu	37	1	15987392	15987392	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:15987392G>A	ENST00000345034.1	+	1	1029	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	343					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTGTGGAGTCAGCAGAAG	0.428																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1027-1029)gaG>gaA		regulatory solute carrier protein, family 1, member 1							58.0	56.0	57.0					1																	15987392		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987392G>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1029G>A	1.37:g.15987392G>A						DDI2_ENST00000480945.1_3'UTR	p.E343E	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1029	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	343					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.1029G>A	CCDS161.1																																																																																				0.428	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		4	78	0	0	0	1	0	4	78				
FRMD4A	55691	broad.mit.edu	37	10	13708282	13708282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:13708282G>A	ENST00000357447.2	-	18	1786	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	FRMD4A_ENST00000358621.4_Missense_Mutation_p.S458F|FRMD4A_ENST00000378503.1_Missense_Mutation_p.S473F	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	473					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGTAATCTGGGACTGAATGGC	0.547																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1417-1419)tCc>tTc		FERM domain containing 4A							70.0	69.0	69.0					10																	13708282		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708282G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1418C>T	10.37:g.13708282G>A	ENSP00000350032:p.Ser473Phe					FRMD4A_ENST00000378503.1_Missense_Mutation_p.S473F|FRMD4A_ENST00000358621.4_Missense_Mutation_p.S458F	p.S473F	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			18	1786	-			473					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1418C>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701867	0.68501	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.77	5.05	5.05	0.67936	.	0.050128	0.85682	D	0.000000	D	0.84028	0.5382	N	0.14661	0.345	0.80722	D	1	D;B	0.69078	0.997;0.005	D;B	0.67103	0.949;0.049	D	0.87066	0.2156	10	0.72032	D	0.01	-21.9651	18.5945	0.91225	0.0:0.0:1.0:0.0	.	506;473	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	F	458;473;473;506	ENSP00000351438:S458F;ENSP00000350032:S473F;ENSP00000367764:S473F;ENSP00000264546:S506F	ENSP00000264546:S506F	S	-	2	0	FRMD4A	13748288	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.693000	0.84214	2.641000	0.89580	0.561000	0.74099	TCC		0.547	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		5	106	0	0	0	1	0	5	106				
PTPN23	25930	broad.mit.edu	37	3	47454640	47454640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:47454640C>T	ENST00000265562.4	+	25	4953	c.4876C>T	c.(4876-4878)Ctt>Ttt	p.L1626F	PTPN23_ENST00000431726.1_Missense_Mutation_p.L1500F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1626					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)			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)		CCCCCTCAGCCTTCTGGATCC	0.587																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4876-4878)Ctt>Ttt		protein tyrosine phosphatase, non-receptor type 23							63.0	65.0	65.0					3																	47454640		2203	4294	6497	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47454640C>T	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.4876C>T	3.37:g.47454640C>T	ENSP00000265562:p.Leu1626Phe					PTPN23_ENST00000431726.1_Missense_Mutation_p.L1500F	p.L1626F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	25	4953	+			1626					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.4876C>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020366	0.19433	.	.	ENSG00000076201	ENST00000265562	T	0.02606	4.23	4.35	4.35	0.52113	.	0.566408	0.16255	N	0.222516	T	0.03348	0.0097	N	0.19112	0.55	0.30389	N	0.781227	P	0.50943	0.94	P	0.46144	0.505	T	0.25779	-1.0122	10	0.59425	D	0.04	-18.5192	11.0899	0.48110	0.1854:0.8146:0.0:0.0	.	1626	Q9H3S7	PTN23_HUMAN	F	1626	ENSP00000265562:L1626F	ENSP00000265562:L1626F	L	+	1	0	PTPN23	47429644	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	2.144000	0.42197	2.224000	0.72417	0.563000	0.77884	CTT		0.587	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		24	47	0	0	0	1	0	24	47				
CDHR1	92211	broad.mit.edu	37	10	85973020	85973020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:85973020G>A	ENST00000372117.3	+	16	2059	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	CDHR1_ENST00000440770.2_Nonsense_Mutation_p.W356*|CDHR1_ENST00000332904.3_Nonsense_Mutation_p.W652*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACTGCCTATGGTCCCTAGAGG	0.552																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1954-1956)tgG>tgA		cadherin-related family member 1							132.0	123.0	126.0					10																	85973020		2203	4300	6503	SO:0001587	stop_gained	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973020G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1956G>A	10.37:g.85973020G>A	ENSP00000361189:p.Trp652*					CDHR1_ENST00000440770.2_Nonsense_Mutation_p.W356*|CDHR1_ENST00000332904.3_Nonsense_Mutation_p.W652*	p.W652*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			16	2059	+			652			Cadherin 6.		Q69YZ8|Q8IXY5	Nonsense_Mutation	SNP	ENST00000372117.3	37	c.1956G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	37	6.187273	0.97357	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-14.3464	17.433	0.87544	0.0:0.0:1.0:0.0	.	.	.	.	X	652;652;356	.	ENSP00000331063:W652X	W	+	3	0	CDHR1	85963000	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	9.439000	0.97543	2.713000	0.92767	0.655000	0.94253	TGG		0.552	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		35	93	0	0	0	1	0	35	93				
GALNT15	117248	broad.mit.edu	37	3	16237426	16237426	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:16237426C>T	ENST00000339732.5	+	2	1202	c.699C>T	c.(697-699)agC>agT	p.S233S	GALNT15_ENST00000437509.1_Silent_p.S233S	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	233	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ACGACCTCAGCCAGCAAGGTA	0.562																																						ENST00000339732.5																			0											c.(697-699)agC>agT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							54.0	43.0	47.0					3																	16237426		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16237426C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.699C>T	3.37:g.16237426C>T						GALNT15_ENST00000437509.1_Silent_p.S233S	p.S233S	NM_054110.4	NP_473451.3					2	1202	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.699C>T	CCDS33711.1																																																																																				0.562	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		13	17	0	0	0	1	0	13	17				
ZNF302	55900	broad.mit.edu	37	19	35175596	35175596	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35175596C>T	ENST00000446502.2	+	6	994	c.786C>T	c.(784-786)cgC>cgT	p.R262R	ZNF302_ENST00000505242.1_Silent_p.R218R|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.R218R|ZNF302_ENST00000457781.2_Silent_p.R218R			Q9NR11	ZN302_HUMAN	zinc finger protein 302	297					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCCTCAGTCGCCACTGGAGAA	0.438																																						ENST00000505242.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(652-654)cgC>cgT		zinc finger protein 302							89.0	95.0	93.0					19																	35175596		2197	4296	6493	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175596C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.786C>T	19.37:g.35175596C>T						ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000446502.2_Silent_p.R262R|ZNF302_ENST00000423823.2_Silent_p.R218R|ZNF302_ENST00000457781.2_Silent_p.R218R	p.R218R			Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1148	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		297					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.654C>T																																																																																					0.438	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			50	81	0	0	0	1	0	50	81				
FOXA1	3169	broad.mit.edu	37	14	38061552	38061552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:38061552G>A	ENST00000250448.2	-	2	498	c.437C>T	c.(436-438)tCc>tTc	p.S146F	FOXA1_ENST00000540786.1_Missense_Mutation_p.S113F|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	146					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		gcccAGGTTGGACGGCGCGTA	0.711																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(436-438)tCc>tTc		forkhead box A1							26.0	27.0	27.0					14																	38061552		2198	4268	6466	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061552G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.437C>T	14.37:g.38061552G>A	ENSP00000250448:p.Ser146Phe					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S113F	p.S146F	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	498	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		146					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.437C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999525	0.74818	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.19532	2.14;2.14	3.9	3.0	0.34707	Fork-head N-terminal (1);	0.899917	0.09396	N	0.807933	T	0.36220	0.0959	L	0.50333	1.59	0.42278	D	0.992089	D	0.61697	0.99	P	0.59288	0.855	T	0.07539	-1.0767	10	0.72032	D	0.01	.	11.1264	0.48322	0.0925:0.0:0.9075:0.0	.	146	P55317	FOXA1_HUMAN	F	146;113	ENSP00000250448:S146F;ENSP00000440178:S113F	ENSP00000250448:S146F	S	-	2	0	FOXA1	37131303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.446000	0.52928	0.848000	0.35191	0.505000	0.49811	TCC		0.711	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			9	34	0	0	0	1	0	9	34				
TBC1D12	23232	broad.mit.edu	37	10	96281762	96281762	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:96281762G>A	ENST00000225235.4	+	10	1922	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	TBC1D12_ENST00000485048.1_Intron	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	604	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				ATTTGGAAGAGGCAGATGCCT	0.403																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(1810-1812)gaG>gaA		TBC1 domain family, member 12							151.0	135.0	140.0					10																	96281762		1902	4137	6039	SO:0001819	synonymous_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96281762G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1812G>A	10.37:g.96281762G>A						TBC1D12_ENST00000485048.1_Intron	p.E604E	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			10	1922	+		Colorectal(252;0.0429)	604			Rab-GAP TBC.		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	c.1812G>A	CCDS41553.1																																																																																				0.403	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			39	69	0	0	0	1	0	39	69				
ZSCAN2	54993	broad.mit.edu	37	15	85164631	85164631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85164631G>A	ENST00000448803.2	+	3	1497	c.1205G>A	c.(1204-1206)aGt>aAt	p.S402N	ZSCAN2_ENST00000546148.1_Missense_Mutation_p.S402N|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.S401N|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.S252N	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	402					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		TTCAGCCAGAGTTCAGCCCTC	0.522																																						ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1204-1206)aGt>aAt		zinc finger and SCAN domain containing 2							97.0	88.0	91.0					15																	85164631		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164631G>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1205G>A	15.37:g.85164631G>A	ENSP00000410198:p.Ser402Asn					ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.S402N|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.S252N|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.S401N	p.S402N	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1497	+			402					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.1205G>A	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416348	0.42918	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.07567	5.23;5.23;3.18;5.23	4.45	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.05640	0.0148	N	0.17764	0.52	0.80722	D	1	B;B	0.32693	0.073;0.38	B;B	0.24848	0.02;0.056	T	0.48747	-0.9008	9	.	.	.	-34.3431	14.9128	0.70770	0.0:0.0:1.0:0.0	.	402;402	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	N	402;402;252;401;383	ENSP00000410198:S402N;ENSP00000445451:S402N;ENSP00000351257:S252N;ENSP00000325123:S401N	.	S	+	2	0	ZSCAN2	82965635	0.197000	0.23362	0.999000	0.59377	0.630000	0.37929	1.551000	0.36233	2.167000	0.68274	0.655000	0.94253	AGT		0.522	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		6	109	0	0	0	1	0	6	109				
TCEA3	6920	broad.mit.edu	37	1	23751084	23751084	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:23751084C>T	ENST00000450454.2	-	1	149	c.43G>A	c.(43-45)Gag>Aag	p.E15K	TCEA3_ENST00000374601.3_Missense_Mutation_p.E15K	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	15	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACCATCTTCTCCAGCTTTTTG	0.711																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(43-45)Gag>Aag		transcription elongation factor A (SII), 3							85.0	90.0	88.0					1																	23751084		2025	4203	6228	SO:0001583	missense	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23751084C>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.43G>A	1.37:g.23751084C>T	ENSP00000406293:p.Glu15Lys					TCEA3_ENST00000374601.3_Missense_Mutation_p.E15K	p.E15K	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	1	149	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	15			TFIIS N-terminal.		A8K2K7|Q5DR83	Missense_Mutation	SNP	ENST00000450454.2	37	c.43G>A	CCDS44086.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116085	0.77323	.	.	ENSG00000204219	ENST00000450454;ENST00000374601	.	.	.	3.83	3.83	0.44106	Transcription factor IIS, N-terminal (3);Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type (1);	0.065778	0.64402	D	0.000014	T	0.51415	0.1673	L	0.51422	1.61	0.34394	D	0.69451	B;B	0.12013	0.005;0.005	B;B	0.13407	0.009;0.009	T	0.64232	-0.6456	9	0.66056	D	0.02	-0.0796	12.9477	0.58382	0.0:1.0:0.0:0.0	.	15;15	A8K2K7;O75764	.;TCEA3_HUMAN	K	15	.	ENSP00000363729:E15K	E	-	1	0	TCEA3	23623671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.150000	0.67090	0.561000	0.74099	GAG		0.711	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		17	43	0	0	0	1	0	17	43				
ST6GALNAC5	81849	broad.mit.edu	37	1	77510087	77510087	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:77510087C>T	ENST00000477717.1	+	3	695	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	154					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.R154C(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GAGGATCCTCCGCAACCGCCA	0.637																																						ENST00000477717.1																			1	Substitution - Missense(1)	p.R154C(1)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(460-462)Cgc>Tgc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							66.0	57.0	60.0					1																	77510087		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510087C>T		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.460C>T	1.37:g.77510087C>T	ENSP00000417583:p.Arg154Cys						p.R154C	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			3	695	+			154					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.460C>T	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113814	0.77210	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.31247	1.5	5.72	5.72	0.89469	.	0.201290	0.52532	D	0.000072	T	0.52224	0.1721	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.59434	-0.7455	10	0.72032	D	0.01	-9.4392	13.3637	0.60671	0.2753:0.7246:0.0:0.0	.	154	Q9BVH7	SIA7E_HUMAN	C	154;64	ENSP00000417583:R154C	ENSP00000436263:R154C	R	+	1	0	ST6GALNAC5	77282675	0.997000	0.39634	1.000000	0.80357	0.877000	0.50540	2.497000	0.45354	2.693000	0.91896	0.655000	0.94253	CGC		0.637	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		40	63	0	0	0	1	0	40	63				
SLCO4A1	28231	broad.mit.edu	37	20	61303113	61303113	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:61303113C>T	ENST00000370507.1	+	11	2133	c.2037C>T	c.(2035-2037)gtC>gtT	p.V679V	SLCO4A1_ENST00000217159.1_Silent_p.V679V			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	679					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGCTGGGCGTCCTCTTCTTTG	0.622																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(2035-2037)gtC>gtT		solute carrier organic anion transporter family, member 4A1							102.0	102.0	102.0					20																	61303113		2203	4300	6503	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61303113C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.2037C>T	20.37:g.61303113C>T						SLCO4A1_ENST00000370507.1_Silent_p.V679V	p.V679V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		12	2242	+	Breast(26;3.65e-08)		679					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.2037C>T	CCDS13501.1																																																																																				0.622	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		42	104	0	0	0	1	0	42	104				
SQLE	6713	broad.mit.edu	37	8	126023806	126023806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:126023806C>T	ENST00000265896.5	+	7	2034	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	SQLE_ENST00000523430.1_Missense_Mutation_p.A284V	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	379				AT -> VA (in Ref. 2; BX647400). {ECO:0000305}.	cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTCTTAGAAGCCACTGACAAT	0.373																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1135-1137)gCc>gTc		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						79.0	77.0	78.0					8																	126023806		1897	4114	6011	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126023806C>T	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1136C>T	8.37:g.126023806C>T	ENSP00000265896:p.Ala379Val					SQLE_ENST00000523430.1_Missense_Mutation_p.A284V	p.A379V	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		7	2034	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		379	AT -> VA (in Ref. 2; BX647400).				Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.1136C>T	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448277	0.63178	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	.	.	.	5.43	2.39	0.29439	Squalene epoxidase (1);	0.190893	0.56097	D	0.000033	T	0.82047	0.4952	M	0.89095	3.005	0.58432	D	0.999991	D	0.61697	0.99	P	0.60949	0.881	D	0.86144	0.1583	9	0.52906	T	0.07	-2.2234	16.846	0.85981	0.0:0.643:0.357:0.0	.	379	Q14534	ERG1_HUMAN	V	284;379;184;31	.	ENSP00000265896:A379V	A	+	2	0	SQLE	126092988	0.994000	0.37717	0.348000	0.25681	0.168000	0.22595	3.142000	0.50601	0.724000	0.32296	0.573000	0.79308	GCC		0.373	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		3	4	0	0	0	1	0	3	4				
HDAC4	9759	broad.mit.edu	37	2	239990234	239990234	+	Silent	SNP	G	G	A	rs139744175		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:239990234G>A	ENST00000345617.3	-	23	3596	c.2805C>T	c.(2803-2805)gcC>gcT	p.A935A	HDAC4_ENST00000543185.1_Silent_p.A519A|AC017028.10_ENST00000579161.1_RNA|AC017028.6_ENST00000577291.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.9_ENST00000581111.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.5_ENST00000582834.1_RNA|AC017028.3_ENST00000584260.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	935	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGCCCTCCACGGCATCGAAGC	0.587																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2803-2805)gcC>gcT		histone deacetylase 4		G		1,4405	2.1+/-5.4	0,1,2202	87.0	84.0	85.0		2805	-7.9	0.4	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HDAC4	NM_006037.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		935/1085	239990234	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239990234G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2805C>T	2.37:g.239990234G>A						HDAC4_ENST00000543185.1_Silent_p.A519A	p.A935A	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	23	3596	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	935			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2805C>T	CCDS2529.1																																																																																				0.587	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		18	32	0	0	0	1	0	18	32				
SZT2	23334	broad.mit.edu	37	1	43907268	43907268	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43907268G>A	ENST00000562955.1	+	53	7434	c.7434G>A	c.(7432-7434)caG>caA	p.Q2478Q	SZT2_ENST00000372442.1_Silent_p.Q1636Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2535					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)				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						TTATGGTTCAGATTGGTGAGA	0.592																																						ENST00000562955.1																			0				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						c.(7432-7434)caG>caA		seizure threshold 2 homolog (mouse)							228.0	198.0	209.0					1																	43907268		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43907268G>A	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.7434G>A	1.37:g.43907268G>A						SZT2_ENST00000372442.1_Silent_p.Q1636Q	p.Q2478Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			53	7434	+			2535					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.7434G>A	CCDS30694.2																																																																																				0.592	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		21	75	0	0	0	1	0	21	75				
IL17C	27189	broad.mit.edu	37	16	88706396	88706396	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:88706396C>T	ENST00000244241.4	+	3	559	c.510C>T	c.(508-510)ctC>ctT	p.L170L		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	170					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCTCGGGGCTCCCCACACCTG	0.726																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(508-510)ctC>ctT		interleukin 17C							36.0	42.0	40.0					16																	88706396		1999	4144	6143	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706396C>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.510C>T	16.37:g.88706396C>T							p.L170L	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	559	+			170					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.510C>T	CCDS42217.1																																																																																				0.726	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		28	49	0	0	0	1	0	28	49				
MBOAT2	129642	broad.mit.edu	37	2	8998892	8998892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:8998892C>T	ENST00000305997.3	-	13	1678	c.1480G>A	c.(1480-1482)Gga>Aga	p.G494R	MBOAT2_ENST00000486484.1_5'Flank	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	494					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGTTCTGTCCCAAAGAATTT	0.368																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(1480-1482)Gga>Aga		membrane bound O-acyltransferase domain containing 2							90.0	95.0	94.0					2																	8998892		2202	4299	6501	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:8998892C>T	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1480G>A	2.37:g.8998892C>T	ENSP00000302177:p.Gly494Arg						p.G494R	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			13	1678	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		494					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.1480G>A	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399067	0.42512	.	.	ENSG00000143797	ENST00000305997	T	0.09445	2.98	5.83	5.83	0.93111	.	3.891720	0.00397	N	0.000046	T	0.13841	0.0335	L	0.44542	1.39	0.34795	D	0.736124	P	0.39576	0.679	B	0.32864	0.154	T	0.44742	-0.9308	10	0.17369	T	0.5	-10.8904	16.5982	0.84802	0.0:0.8615:0.1385:0.0	.	494	Q6ZWT7	MBOA2_HUMAN	R	494	ENSP00000302177:G494R	ENSP00000302177:G494R	G	-	1	0	MBOAT2	8916343	1.000000	0.71417	0.994000	0.49952	0.429000	0.31625	2.663000	0.46774	2.770000	0.95276	0.655000	0.94253	GGA		0.368	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		25	57	0	0	0	1	0	25	57				
LY6G5C	80741	broad.mit.edu	37	6	31644797	31644797	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31644797G>A	ENST00000383237.4	-	3	393	c.390C>T	c.(388-390)ttC>ttT	p.F130F	LY6G5C_ENST00000375860.2_Silent_p.F128F|LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375858.3_Silent_p.F127F			Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	130	UPAR/Ly6.					extracellular region (GO:0005576)		p.F127L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						AGTATTGAGAGAATATCCAGA	0.473																																						ENST00000375858.3																			1	Substitution - Missense(1)	p.F127L(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						c.(379-381)ttC>ttT		lymphocyte antigen 6 complex, locus G5C							127.0	137.0	133.0					6																	31644797		1511	2709	4220	SO:0001819	synonymous_variant	80741					extracellular region		g.chr6:31644797G>A		CCDS34401.1, CCDS34401.2	6p21	2010-02-17	2002-07-29	2002-08-01	ENSG00000204428	ENSG00000204428			13932	protein-coding gene	gene with protein product		610434	"""chromosome 6 open reading frame 20"""	C6orf20		12079290	Standard	NM_025262		Approved	G5c, NG33	uc003nvu.2	Q5SRR4	OTTHUMG00000031228	ENST00000383237.4:c.390C>T	6.37:g.31644797G>A						LY6G5C_ENST00000383237.4_Silent_p.F130F|LY6G5C_ENST00000375860.2_Silent_p.F128F|LY6G5C_ENST00000474395.1_5'UTR	p.F127F	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN			3	389	-			130			UPAR/Ly6.		A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1	Silent	SNP	ENST00000383237.4	37	c.381C>T	CCDS34401.2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040428	0.35989	.	.	ENSG00000204428	ENST00000375863	.	.	.	3.54	-1.73	0.08081	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.26803	N	0.969164	.	.	.	.	.	.	T	0.32955	-0.9887	4	.	.	.	-18.0515	7.6888	0.28557	0.6467:0.0:0.3533:0.0	.	.	.	.	F	205	.	.	S	-	2	0	LY6G5C	31752776	0.019000	0.18553	0.173000	0.22940	0.926000	0.56050	-0.032000	0.12266	-0.405000	0.07599	0.313000	0.20887	TCT		0.473	LY6G5C-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076473.4			5	129	0	0	0	1	0	5	129				
LINC00639	283547	broad.mit.edu	37	14	39304901	39304901	+	lincRNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:39304901C>T	ENST00000553932.1	-	0	3661									long intergenic non-protein coding RNA 639																		ACCACATTCGCCATCAGAGGG	0.507																																						ENST00000553932.1																			0																																																			0							g.chr14:39304901C>T	AK125018, AK127318, BC035119		14q21.1	2012-10-12			ENSG00000259070	ENSG00000259070		"""Long non-coding RNAs"""	27502	non-coding RNA	RNA, long non-coding							Standard	NR_039982		Approved		uc001wun.3		OTTHUMG00000170746		14.37:g.39304901C>T														0	3661	-									RNA	SNP	ENST00000553932.1	37																																																																																						0.507	LINC00639-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000410191.1	NR_039982		6	13	0	0	0	1	0	6	13				
CSMD2	114784	broad.mit.edu	37	1	34192235	34192235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:34192235C>T	ENST00000373381.4	-	16	2596	c.2420G>A	c.(2419-2421)gGc>gAc	p.G807D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	767	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCAGGCCAGCCCGGAGAGAG	0.587																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2419-2421)gGc>gAc		CUB and Sushi multiple domains 2							40.0	44.0	43.0					1																	34192235		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34192235C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2420G>A	1.37:g.34192235C>T	ENSP00000362479:p.Gly807Asp						p.G807D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			16	2596	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	767			CUB 5.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2420G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.347894	0.95807	.	.	ENSG00000121904	ENST00000373381	T	0.60920	0.15	5.88	5.88	0.94601	CUB (5);	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74731	-0.3566	10	0.51188	T	0.08	.	19.2304	0.93836	0.0:1.0:0.0:0.0	.	767;807	Q7Z408;E7EUA6	CSMD2_HUMAN;.	D	807	ENSP00000362479:G807D	ENSP00000241312:G767D	G	-	2	0	CSMD2	33964822	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	GGC		0.587	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		12	35	0	0	0	1	0	12	35				
PCDHB14	56122	broad.mit.edu	37	5	140604390	140604390	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140604390C>T	ENST00000239449.4	+	1	1313	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T285I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAACATAACCGTGCTGCTC	0.562																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1312-1314)aCc>aTc									155.0	147.0	150.0					5																	140604390		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604390C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1313C>T	5.37:g.140604390C>T	ENSP00000239449:p.Thr438Ile					PCDHB14_ENST00000515856.2_Missense_Mutation_p.T285I	p.T438I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1313	+			438			Cadherin 4.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1313C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	3.151	-0.174234	0.06421	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.03358	3.96;3.96	4.5	0.423	0.16463	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05640	0.0148	L	0.59967	1.855	0.09310	N	1	B	0.25850	0.136	B	0.34452	0.183	T	0.37888	-0.9686	9	0.56958	D	0.05	.	5.4537	0.16578	0.0:0.2768:0.469:0.2542	.	438	Q9Y5E9	PCDBE_HUMAN	I	285;438	ENSP00000444518:T285I;ENSP00000239449:T438I	ENSP00000239449:T438I	T	+	2	0	PCDHB14	140584574	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-2.384000	0.01063	0.086000	0.17137	0.556000	0.70494	ACC		0.562	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		69	130	0	0	0	1	0	69	130				
OGT	8473	broad.mit.edu	37	X	70757768	70757768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70757768G>A	ENST00000373719.3	+	3	525	c.308G>A	c.(307-309)gGg>gAg	p.G103E	OGT_ENST00000373701.3_Missense_Mutation_p.G93E|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	103					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AAGGAAAGAGGGCAGTTGCAG	0.473																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(307-309)gGg>gAg		O-linked N-acetylglucosamine (GlcNAc) transferase							161.0	137.0	145.0					X																	70757768		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70757768G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.308G>A	X.37:g.70757768G>A	ENSP00000362824:p.Gly103Glu					OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.G93E	p.G103E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			3	525	+	Renal(35;0.156)		103					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.308G>A	CCDS14414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.25|19.25	3.790738|3.790738	0.70452|0.70452	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774|ENST00000455587	T;T;T|T	0.65916|0.66280	-0.18;-0.18;-0.18|-0.2	4.73|4.73	4.73|4.73	0.59995|0.59995	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67144|0.67144	0.2862|0.2862	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	D;B;D|.	0.76494|.	0.999;0.046;0.999|.	D;B;D|.	0.80764|.	0.994;0.113;0.972|.	T|T	0.71310|0.71310	-0.4631|-0.4631	10|8	0.54805|0.72032	T|D	0.06|0.01	-28.2474|-28.2474	17.0126|17.0126	0.86410|0.86410	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	103;93;103|.	B4DTL6;O15294-3;O15294|.	.;.;OGT1_HUMAN|.	E|S	103;93;86|63	ENSP00000362824:G103E;ENSP00000362805:G93E;ENSP00000399729:G86E|ENSP00000407659:G63S	ENSP00000362805:G93E|ENSP00000407659:G63S	G|G	+|+	2|1	0|0	OGT|OGT	70674493|70674493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.502000|9.502000	0.97981|0.97981	2.195000|2.195000	0.70347|0.70347	0.431000|0.431000	0.28591|0.28591	GGG|GGC		0.473	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		15	129	0	0	0	1	0	15	129				
PLXND1	23129	broad.mit.edu	37	3	129304827	129304827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:129304827G>A	ENST00000324093.4	-	5	1997	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	PLXND1_ENST00000393239.1_Missense_Mutation_p.P607S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	607					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)		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						ATCTCGGAAGGCAGGACGGTC	0.652																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				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						c.(1819-1821)Cct>Tct		plexin D1							113.0	121.0	118.0					3																	129304827		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129304827G>A	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.1819C>T	3.37:g.129304827G>A	ENSP00000317128:p.Pro607Ser					PLXND1_ENST00000324093.4_Missense_Mutation_p.P607S	p.P607S			Q9Y4D7	PLXD1_HUMAN			5	1997	-			607					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1819C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093676	0.56075	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.46063	0.96;0.88;2.85	4.98	4.98	0.66077	.	0.126503	0.53938	D	0.000046	T	0.51466	0.1676	M	0.73217	2.22	0.52099	D	0.999943	D	0.61080	0.989	P	0.51516	0.672	T	0.54403	-0.8299	10	0.48119	T	0.1	.	11.9038	0.52699	0.0:0.1906:0.8094:0.0	.	607	Q9Y4D7	PLXD1_HUMAN	S	607;607;159	ENSP00000317128:P607S;ENSP00000376931:P607S;ENSP00000426241:P159S	ENSP00000317128:P607S	P	-	1	0	PLXND1	130787517	1.000000	0.71417	0.995000	0.50966	0.736000	0.42039	4.758000	0.62220	2.317000	0.78254	0.561000	0.74099	CCT		0.652	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		12	140	0	0	0	1	0	12	140				
DPYSL3	1809	broad.mit.edu	37	5	146781239	146781239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:146781239G>A	ENST00000398514.3	-	9	1203	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S	DPYSL3_ENST00000343218.5_Missense_Mutation_p.P392S|DPYSL3_ENST00000534907.1_Intron|CTB-108O6.2_ENST00000607270.1_RNA	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	278					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTGATGGGCTCACCAAAG	0.517																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1174-1176)Ccc>Tcc		dihydropyrimidinase-like 3							47.0	53.0	51.0					5																	146781239		2168	4295	6463	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146781239G>A	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.832C>T	5.37:g.146781239G>A	ENSP00000381526:p.Pro278Ser					DPYSL3_ENST00000398514.3_Missense_Mutation_p.P278S|DPYSL3_ENST00000534907.1_Intron	p.P392S	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1371	-			278					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.1174C>T	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026449	0.93518	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.90004	-2.6;-2.6	5.74	5.74	0.90152	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.94145	0.8122	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.96	D	0.93859	0.7152	10	0.72032	D	0.01	-21.6244	20.2825	0.98528	0.0:0.0:1.0:0.0	.	392;278	B3SXQ8;Q14195	.;DPYL3_HUMAN	S	278;392	ENSP00000381526:P278S;ENSP00000343690:P392S	ENSP00000343690:P392S	P	-	1	0	DPYSL3	146761432	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.885000	0.87282	2.873000	0.98535	0.561000	0.74099	CCC		0.517	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		8	19	0	0	0	1	0	8	19				
COL19A1	1310	broad.mit.edu	37	6	70873281	70873281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:70873281G>A	ENST00000322773.4	+	36	2495	c.2393G>A	c.(2392-2394)gGt>gAt	p.G798D	COL19A1_ENST00000393344.1_Missense_Mutation_p.G420D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	798	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGCAAAAGGTGAAAAGGTA	0.438																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2392-2394)gGt>gAt		collagen, type XIX, alpha 1							79.0	70.0	73.0					6																	70873281		2203	4299	6502	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70873281G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2393G>A	6.37:g.70873281G>A	ENSP00000316030:p.Gly798Asp					COL19A1_ENST00000393344.1_Missense_Mutation_p.G420D	p.G798D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			36	2495	+			798			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2393G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485708	0.63962	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.77;-5.77	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	H	0.98048	4.135	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97331	0.9950	10	0.87932	D	0	.	20.1708	0.98159	0.0:0.0:1.0:0.0	.	798	Q14993	COJA1_HUMAN	D	798;420	ENSP00000316030:G798D;ENSP00000377013:G420D	ENSP00000316030:G798D	G	+	2	0	COL19A1	70930002	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.873000	0.75541	2.761000	0.94854	0.655000	0.94253	GGT		0.438	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			7	19	0	0	0	1	0	7	19				
LIPC	3990	broad.mit.edu	37	15	58837971	58837971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:58837971G>A	ENST00000356113.6	+	7	1220	c.605G>A	c.(604-606)gGa>gAa	p.G202E	LIPC_ENST00000433326.2_Missense_Mutation_p.G141E|LIPC_ENST00000299022.5_Missense_Mutation_p.G202E|LIPC_ENST00000414170.3_Missense_Mutation_p.G202E			P11150	LIPC_HUMAN	lipase, hepatic	202					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTGTTTGAGGGAAGTGCCCCC	0.532																																						ENST00000414170.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(604-606)gGa>gAa		lipase, hepatic							81.0	77.0	78.0					15																	58837971		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58837971G>A		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.605G>A	15.37:g.58837971G>A	ENSP00000348425:p.Gly202Glu					LIPC_ENST00000433326.2_Missense_Mutation_p.G141E|LIPC_ENST00000299022.5_Missense_Mutation_p.G202E|LIPC_ENST00000356113.6_Missense_Mutation_p.G202E	p.G202E			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	6	892	+		Colorectal(260;0.215)	202					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.605G>A	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818971	0.50633	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.44	3.57	0.40892	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93497	0.7925	M	0.68952	2.095	0.80722	D	1	P;D	0.71674	0.617;0.998	B;D	0.69654	0.232;0.965	D	0.92441	0.5962	10	0.51188	T	0.08	.	11.8366	0.52327	0.1424:0.0:0.8576:0.0	.	141;202	E7EUK6;P11150	.;LIPC_HUMAN	E	202;202;202;141	ENSP00000348425:G202E;ENSP00000395569:G202E;ENSP00000299022:G202E;ENSP00000395002:G141E	ENSP00000299022:G202E	G	+	2	0	LIPC	56625263	1.000000	0.71417	0.379000	0.26080	0.096000	0.18686	4.940000	0.63533	0.671000	0.31185	0.563000	0.77884	GGA		0.532	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			8	49	0	0	0	1	0	8	49				
PELP1	27043	broad.mit.edu	37	17	4586131	4586131	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4586131G>A	ENST00000574876.1	-	4	554	c.537C>T	c.(535-537)ggC>ggT	p.G179G	PELP1_ENST00000301396.4_Silent_p.G179G|PELP1_ENST00000570823.1_5'Flank|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Silent_p.G32G|PELP1_ENST00000269230.7_Silent_p.G179G|PELP1_ENST00000572293.1_Silent_p.G229G			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	179					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGGTGAGAAGGCCAGGGAGGT	0.617																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(535-537)ggC>ggT		proline, glutamate and leucine rich protein 1							27.0	31.0	29.0					17																	4586131		2009	4168	6177	SO:0001819	synonymous_variant	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4586131G>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.537C>T	17.37:g.4586131G>A						AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000574876.1_Silent_p.G179G|PELP1_ENST00000269230.7_Silent_p.G179G|PELP1_ENST00000572293.1_Silent_p.G229G|PELP1_ENST00000436683.2_Silent_p.G32G	p.G179G			Q8IZL8	PELP1_HUMAN			4	762	-			179					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	c.537C>T	CCDS58503.1																																																																																				0.617	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		6	9	0	0	0	1	0	6	9				
TMEM106B	54664	broad.mit.edu	37	7	12269426	12269426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:12269426G>A	ENST00000396667.3	+	6	885	c.563G>A	c.(562-564)gGt>gAt	p.G188D	TMEM106B_ENST00000396668.3_Missense_Mutation_p.G188D	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	188					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)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACCATTATTGGTCCACTTGAT	0.333																																						ENST00000396667.2																			0				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18						c.(562-564)gGt>gAt		transmembrane protein 106B							67.0	67.0	67.0					7																	12269426		2203	4298	6501	SO:0001583	missense	54664					integral to membrane		g.chr7:12269426G>A	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.563G>A	7.37:g.12269426G>A	ENSP00000379901:p.Gly188Asp					TMEM106B_ENST00000396668.3_Missense_Mutation_p.G188D	p.G188D	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	6	885	+			188					A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	c.563G>A	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157500	0.38119	.	.	ENSG00000106460	ENST00000396668;ENST00000396667	T;T	0.20738	2.05;2.05	5.36	5.36	0.76844	.	0.194270	0.56097	D	0.000036	T	0.28962	0.0719	M	0.73962	2.25	0.47659	D	0.999489	P	0.37101	0.582	B	0.37267	0.245	T	0.07520	-1.0768	10	0.17832	T	0.49	.	19.4636	0.94929	0.0:0.0:1.0:0.0	.	188	Q9NUM4	T106B_HUMAN	D	188	ENSP00000379902:G188D;ENSP00000379901:G188D	ENSP00000379901:G188D	G	+	2	0	TMEM106B	12235951	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.103000	0.57783	2.689000	0.91719	0.655000	0.94253	GGT		0.333	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		4	151	0	0	0	1	0	4	151				
ACAP3	116983	broad.mit.edu	37	1	1230935	1230935	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:1230935C>T	ENST00000354700.5	-	19	1908		c.e19-1		ACAP3_ENST00000353662.3_Splice_Site|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGGGTGCCCACTGCAGGGGCA	0.677																																						ENST00000354700.5																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.e19-1		ArfGAP with coiled-coil, ankyrin repeat and PH domains 3							50.0	48.0	49.0					1																	1230935		2195	4294	6489	SO:0001630	splice_region_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1230935C>T	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1706-1G>A	1.37:g.1230935C>T						ACAP3_ENST00000353662.3_Splice_Site		NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN			19	1908	-								B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Splice_Site	SNP	ENST00000354700.5	37		CCDS19.2	.	.	.	.	.	.	.	.	.	.	.	13.92	2.381981	0.42207	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	.	.	.	4.66	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4538	0.67404	0.0:0.8517:0.1483:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACAP3	1220798	1.000000	0.71417	0.651000	0.29564	0.110000	0.19582	2.862000	0.48388	2.276000	0.75962	0.491000	0.48974	.		0.677	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649	Intron	6	10	0	0	0	1	0	6	10				
ZNF101	94039	broad.mit.edu	37	19	19790364	19790364	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19790364G>A	ENST00000592502.1	+	4	676	c.566G>A	c.(565-567)aGa>aAa	p.R189K	ZNF101_ENST00000415784.2_Missense_Mutation_p.R69K|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ATCCATCAAAGAACTCACACT	0.418																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(565-567)aGa>aAa		zinc finger protein 101							77.0	84.0	82.0					19																	19790364		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790364G>A	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.566G>A	19.37:g.19790364G>A	ENSP00000468049:p.Arg189Lys					ZNF101_ENST00000415784.2_Missense_Mutation_p.R69K|ZNF101_ENST00000444249.2_3'UTR	p.R189K			Q8IZC7	ZN101_HUMAN			4	676	+			189					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.566G>A	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674557	0.29693	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.07114	3.22;3.22	0.235	-0.47	0.12131	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	L	0.45285	1.41	0.18873	N	0.999982	B	0.20052	0.041	B	0.19666	0.026	T	0.42498	-0.9448	8	.	.	.	.	3.8258	0.08853	0.6462:0.0:0.3538:0.0	.	189	Q8IZC7	ZN101_HUMAN	K	189;189;69	ENSP00000319716:R189K;ENSP00000400952:R69K	.	R	+	2	0	ZNF101	19651364	0.000000	0.05858	0.204000	0.23530	0.204000	0.24138	0.578000	0.23773	-0.671000	0.05274	-0.657000	0.03884	AGA		0.418	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		4	118	0	0	0	1	0	4	118				
CHDC2	286464	broad.mit.edu	37	X	36091355	36091355	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:36091355C>A	ENST00000313548.4	+	4	476	c.290C>A	c.(289-291)tCt>tAt	p.S97Y		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	97						integral component of membrane (GO:0016021)											CAATTCCTTTCTCTTGAGGAA	0.433																																						ENST00000378660.1																			0											c.(289-291)tCt>tAt		calponin homology domain containing 2							105.0	92.0	97.0					X																	36091355		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36091355C>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.290C>A	X.37:g.36091355C>A	ENSP00000324767:p.Ser97Tyr					CHDC2_ENST00000313548.4_Missense_Mutation_p.S97Y	p.S97Y							4	478	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.290C>A	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	1.060	-0.673054	0.03403	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	4.9	-2.23	0.06930	.	0.733108	0.11267	N	0.581945	T	0.20659	0.0497	N	0.19112	0.55	0.09310	N	1	B	0.15930	0.015	B	0.12156	0.007	T	0.34725	-0.9817	9	0.02654	T	1	-0.0788	9.4981	0.38999	0.0:0.2793:0.0:0.7207	.	97	Q8N9S7	CX059_HUMAN	Y	97	.	ENSP00000324767:S97Y	S	+	2	0	CXorf59	36001276	0.469000	0.25846	0.000000	0.03702	0.028000	0.11728	-0.688000	0.05150	-0.529000	0.06358	0.529000	0.55759	TCT		0.433	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		38	37	1	0	2.87052e-16	1	2.88451e-16	38	37				
YIPF3	25844	broad.mit.edu	37	6	43480270	43480270	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43480270G>A	ENST00000372422.2	-	8	994	c.812C>T	c.(811-813)cCc>cTc	p.P271L	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.P277L	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	271					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCGCTGTGTGGGGCCCACGGT	0.577																																						ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(811-813)cCc>cTc		Yip1 domain family, member 3							29.0	31.0	31.0					6																	43480270		2203	4300	6503	SO:0001583	missense	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480270G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.812C>T	6.37:g.43480270G>A	ENSP00000361499:p.Pro271Leu					YIPF3_ENST00000506469.1_Missense_Mutation_p.P277L	p.P271L	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		8	994	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		271					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	c.812C>T	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256475	0.39896	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972	T;T;T	0.42900	0.96;0.96;0.96	5.43	5.43	0.79202	.	0.167501	0.56097	D	0.000040	T	0.19846	0.0477	L	0.34521	1.04	0.58432	D	0.999995	B;B;B;B	0.27732	0.187;0.187;0.065;0.187	B;B;B;B	0.27500	0.08;0.08;0.027;0.08	T	0.06197	-1.0840	10	0.46703	T	0.11	-24.5962	12.132	0.53948	0.0:0.0:0.7835:0.2165	.	182;277;236;271	D6RED8;E7EQR8;Q5JTD5;Q9GZM5	.;.;.;YIPF3_HUMAN	L	271;182;277;237	ENSP00000361499:P271L;ENSP00000425494:P277L;ENSP00000421461:P237L	ENSP00000361499:P271L	P	-	2	0	YIPF3	43588248	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.306000	0.65756	2.549000	0.85964	0.561000	0.74099	CCC		0.577	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		9	22	0	0	0	1	0	9	22				
ZNF75A	7627	broad.mit.edu	37	16	3366945	3366945	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:3366945C>T	ENST00000574298.1	+	5	607	c.134C>T	c.(133-135)tCc>tTc	p.S45F	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAAGTGATCTCCTGTCTAGAG	0.458																																						ENST00000574298.1																			0				breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(133-135)tCc>tTc		zinc finger protein 75a							121.0	111.0	114.0					16																	3366945		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3366945C>T	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.134C>T	16.37:g.3366945C>T	ENSP00000459566:p.Ser45Phe					ZNF75A_ENST00000498240.2_3'UTR	p.S45F	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN			5	607	+			45			KRAB.		Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.134C>T	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539012	0.45176	.	.	ENSG00000162086	ENST00000293995	.	.	.	5.03	3.74	0.42951	Krueppel-associated box (3);	0.181451	0.27202	N	0.020448	T	0.18800	0.0451	N	0.03983	-0.305	0.29871	N	0.826817	B	0.18863	0.031	B	0.14578	0.011	T	0.11690	-1.0577	9	0.27082	T	0.32	.	9.1823	0.37149	0.0:0.8545:0.0:0.1455	.	45	Q96N20	ZN75A_HUMAN	F	45	.	ENSP00000293995:S45F	S	+	2	0	ZNF75A	3306946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.696000	0.37773	0.964000	0.38108	0.650000	0.86243	TCC		0.458	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		5	85	0	0	0	1	0	5	85				
KRTCAP3	200634	broad.mit.edu	37	2	27666311	27666311	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27666311G>A	ENST00000543753.1	+	5	574	c.527G>A	c.(526-528)gGg>gAg	p.G176E	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176E|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158E	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	176						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGTCTGCAGGGGAGGCTGCT	0.552																																						ENST00000543753.1																			0				large_intestine(1)|lung(2)	3						c.(526-528)gGg>gAg		keratinocyte associated protein 3							127.0	110.0	116.0					2																	27666311		2203	4300	6503	SO:0001583	missense	200634					integral to membrane		g.chr2:27666311G>A	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.527G>A	2.37:g.27666311G>A	ENSP00000442400:p.Gly176Glu					KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176E|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158E	p.G176E	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN			5	574	+	Acute lymphoblastic leukemia(172;0.155)		176					B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	c.527G>A	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321029	0.41096	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.42131	0.98;0.98;0.98	5.83	1.72	0.24424	.	0.456748	0.25058	N	0.033471	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.20887	0.049	B	0.24541	0.054	T	0.18429	-1.0337	10	0.72032	D	0.01	-16.9571	6.9379	0.24476	0.0:0.5419:0.2691:0.1889	.	176	Q53RY4	KCP3_HUMAN	E	176;176;158	ENSP00000442400:G176E;ENSP00000288873:G176E;ENSP00000384689:G158E	ENSP00000288873:G176E	G	+	2	0	KRTCAP3	27519815	0.001000	0.12720	0.012000	0.15200	0.997000	0.91878	0.176000	0.16782	0.053000	0.16036	0.561000	0.74099	GGG		0.552	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		7	67	0	0	0	1	0	7	67				
ZNF831	128611	broad.mit.edu	37	20	57767501	57767501	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57767501C>T	ENST00000371030.2	+	1	1427	c.1427C>T	c.(1426-1428)cCc>cTc	p.P476L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	476							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACCTGGACGCCCCCAGACAAG	0.667																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1426-1428)cCc>cTc		zinc finger protein 831							33.0	40.0	38.0					20																	57767501		1990	4153	6143	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767501C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1427C>T	20.37:g.57767501C>T	ENSP00000360069:p.Pro476Leu						p.P476L	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1427	+	all_lung(29;0.0085)		476					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1427C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	9.603	1.129300	0.21041	.	.	ENSG00000124203	ENST00000371030	T	0.10763	2.84	5.21	5.21	0.72293	.	.	.	.	.	T	0.26882	0.0658	M	0.64404	1.975	0.09310	N	0.999999	D	0.65815	0.995	P	0.55112	0.769	T	0.04053	-1.0981	9	0.87932	D	0	-1.7191	17.7439	0.88414	0.0:1.0:0.0:0.0	.	476	Q5JPB2	ZN831_HUMAN	L	476	ENSP00000360069:P476L	ENSP00000360069:P476L	P	+	2	0	ZNF831	57200896	0.104000	0.21937	0.005000	0.12908	0.196000	0.23810	3.568000	0.53820	2.423000	0.82170	0.655000	0.94253	CCC		0.667	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		21	28	0	0	0	1	0	21	28				
PPP1R2	5504	broad.mit.edu	37	3	195251638	195251638	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195251638G>A	ENST00000328432.3	-	3	647	c.287C>T	c.(286-288)gCg>gTg	p.A96V	RNU6ATAC24P_ENST00000516811.1_RNA	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	96					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		GATGTCTGGCGCCATGGCTTC	0.453																																						ENST00000328432.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6						c.(286-288)gCg>gTg		protein phosphatase 1, regulatory (inhibitor) subunit 2							104.0	89.0	94.0					3																	195251638		2203	4300	6503	SO:0001583	missense	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195251638G>A	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.287C>T	3.37:g.195251638G>A	ENSP00000328178:p.Ala96Val						p.A96V	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	3	647	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		96						Missense_Mutation	SNP	ENST00000328432.3	37	c.287C>T	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454320	0.26161	.	.	ENSG00000184203	ENST00000328432	.	.	.	5.46	4.56	0.56223	.	0.372680	0.30419	N	0.009679	T	0.26774	0.0655	N	0.12961	0.28	0.26530	N	0.974276	B	0.12013	0.005	B	0.08055	0.003	T	0.11743	-1.0575	9	0.30078	T	0.28	.	13.6963	0.62582	0.0:0.0:0.8334:0.1666	.	96	P41236	IPP2_HUMAN	V	96	.	ENSP00000328178:A96V	A	-	2	0	PPP1R2	196732927	0.886000	0.30341	0.326000	0.25389	0.057000	0.15508	1.404000	0.34623	1.358000	0.45922	0.585000	0.79938	GCG		0.453	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		3	63	0	0	0	1	0	3	63				
COL14A1	7373	broad.mit.edu	37	8	121290364	121290364	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:121290364G>A	ENST00000297848.3	+	27	3498	c.3228G>A	c.(3226-3228)caG>caA	p.Q1076Q	COL14A1_ENST00000309791.4_Silent_p.Q1076Q|COL14A1_ENST00000247781.3_Silent_p.Q981Q	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAATGGTTCAGTTCACTGATG	0.383																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3226-3228)caG>caA		collagen, type XIV, alpha 1							119.0	124.0	122.0					8																	121290364		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121290364G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3228G>A	8.37:g.121290364G>A						COL14A1_ENST00000247781.3_Silent_p.Q981Q|COL14A1_ENST00000309791.4_Silent_p.Q1076Q	p.Q1076Q	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		27	3498	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1076			VWFA 2.			Silent	SNP	ENST00000297848.3	37	c.3228G>A	CCDS34938.1																																																																																				0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		7	68	0	0	0	1	0	7	68				
BAGE2	85319	broad.mit.edu	37	21	11047503	11047503	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:11047503G>A	ENST00000470054.1	-	0	751							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCGTTGGTTGGTACAGATTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11047503G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11047503G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	751	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		12	361	0	0	0	1	0	12	361				
BMS1	9790	broad.mit.edu	37	10	43316087	43316087	+	Silent	SNP	G	G	A	rs186096151		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:43316087G>A	ENST00000374518.5	+	17	2964	c.2901G>A	c.(2899-2901)agG>agA	p.R967R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	967					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R967R(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGACAAAGGCTTCTAAAGT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18667	0.001		0.0	False		,,,				2504	0.0					ENST00000374518.4																			1	Substitution - coding silent(1)	p.R967R(1)	lung(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2899-2901)agG>agA		BMS1 ribosome biogenesis factor							50.0	53.0	52.0					10																	43316087		2201	4300	6501	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316087G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2901G>A	10.37:g.43316087G>A							p.R967R	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			17	2964	+			967					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.2901G>A	CCDS7199.1																																																																																				0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		6	106	0	0	0	1	0	6	106				
LUZP2	338645	broad.mit.edu	37	11	24753666	24753666	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:24753666C>T	ENST00000336930.6	+	3	249	c.183C>T	c.(181-183)tcC>tcT	p.S61S	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	61						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTATCAGTCCTTAAAAAACG	0.338																																						ENST00000336930.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(181-183)tcC>tcT		leucine zipper protein 2							60.0	62.0	61.0					11																	24753666		2202	4299	6501	SO:0001819	synonymous_variant	338645					extracellular region		g.chr11:24753666C>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.183C>T	11.37:g.24753666C>T						LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR	p.S61S			Q86TE4	LUZP2_HUMAN			3	249	+			61					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	37	c.183C>T	CCDS31446.1																																																																																				0.338	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		10	9	0	0	0	1	0	10	9				
NUDCD1	84955	broad.mit.edu	37	8	110255387	110255387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:110255387C>T	ENST00000239690.4	-	10	1977	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	NUDCD1_ENST00000427660.2_Missense_Mutation_p.E506K	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TGCCTGCCTTCCTTTCTGTTG	0.443																																						ENST00000239690.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(1603-1605)Gaa>Aaa		NudC domain containing 1							246.0	232.0	237.0					8																	110255387		2203	4299	6502	SO:0001583	missense	84955							g.chr8:110255387C>T	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1603G>A	8.37:g.110255387C>T	ENSP00000239690:p.Glu535Lys					NUDCD1_ENST00000427660.2_Missense_Mutation_p.E506K	p.E535K	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		10	1977	-	all_neural(195;0.219)		535						Missense_Mutation	SNP	ENST00000239690.4	37	c.1603G>A	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570097	0.65765	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.17854	2.26;2.25	4.9	4.9	0.64082	.	0.048839	0.85682	D	0.000000	T	0.20170	0.0485	L	0.51422	1.61	0.47476	D	0.999433	P;P;P	0.45283	0.702;0.773;0.855	B;B;B	0.40825	0.341;0.127;0.338	T	0.01834	-1.1264	10	0.44086	T	0.13	-5.5189	17.4249	0.87524	0.0:1.0:0.0:0.0	.	448;535;506	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	K	535;506	ENSP00000239690:E535K;ENSP00000410707:E506K	ENSP00000239690:E535K	E	-	1	0	NUDCD1	110324563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.763000	0.68818	2.423000	0.82170	0.557000	0.71058	GAA		0.443	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		5	231	0	0	0	1	0	5	231				
FBXO46	23403	broad.mit.edu	37	19	46216407	46216407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46216407C>T	ENST00000317683.3	-	2	480	c.347G>A	c.(346-348)aGc>aAc	p.S116N		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	116										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTTCATGGAGCTGGCCCGGCT	0.642																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(346-348)aGc>aAc		F-box protein 46							32.0	36.0	35.0					19																	46216407		1982	4158	6140	SO:0001583	missense	23403						protein binding	g.chr19:46216407C>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.347G>A	19.37:g.46216407C>T	ENSP00000410007:p.Ser116Asn						p.S116N	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	480	-		Ovarian(192;0.179)|all_neural(266;0.224)	116						Missense_Mutation	SNP	ENST00000317683.3	37	c.347G>A	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504428	0.64410	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	T	0.53578	0.1805	L	0.29908	0.895	0.36166	D	0.848476	D	0.61697	0.99	P	0.55713	0.782	T	0.60831	-0.7185	8	0.39692	T	0.17	-21.2551	14.4747	0.67539	0.0:1.0:0.0:0.0	.	116	Q6PJ61	FBX46_HUMAN	N	116	.	ENSP00000410007:S116N	S	-	2	0	FBXO46	50908247	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.656000	0.54467	2.338000	0.79540	0.563000	0.77884	AGC		0.642	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		17	43	0	0	0	1	0	17	43				
SETD5	55209	broad.mit.edu	37	3	9482146	9482146	+	Missense_Mutation	SNP	C	C	T	rs536577273		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9482146C>T	ENST00000406341.1	+	7	764	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	SETD5_ENST00000302463.6_Missense_Mutation_p.P94S|SETD5_ENST00000407969.1_Missense_Mutation_p.P211S|SETD5_ENST00000402466.1_Missense_Mutation_p.P94S|SETD5_ENST00000402198.1_Missense_Mutation_p.P192S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	192										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAGAATTCTCCCTCTGAAGC	0.423																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(280-282)Ccc>Tcc		SET domain containing 5							43.0	41.0	42.0					3																	9482146		1817	4068	5885	SO:0001583	missense	55209							g.chr3:9482146C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.574C>T	3.37:g.9482146C>T	ENSP00000383939:p.Pro192Ser					SETD5_ENST00000407969.1_Missense_Mutation_p.P211S|SETD5_ENST00000406341.1_Missense_Mutation_p.P192S|SETD5_ENST00000302463.6_Missense_Mutation_p.P94S|SETD5_ENST00000402198.1_Missense_Mutation_p.P192S	p.P94S			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1048	+	Medulloblastoma(99;0.227)		192					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.280C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085914	0.76642	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.91792	-2.59;-2.91;-2.59;-2.58;1.01;-2.91	5.24	5.24	0.73138	.	0.064488	0.64402	D	0.000006	D	0.93229	0.7843	L	0.44542	1.39	0.43890	D	0.996518	D;D;P	0.57571	0.98;0.979;0.865	P;P;P	0.56788	0.806;0.715;0.689	D	0.92572	0.6067	10	0.41790	T	0.15	-0.6993	19.1894	0.93658	0.0:1.0:0.0:0.0	.	94;192;211	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	S	192;94;192;211;81;94	ENSP00000385852:P192S;ENSP00000384429:P94S;ENSP00000383939:P192S;ENSP00000384114:P211S;ENSP00000408837:P81S;ENSP00000302028:P94S	ENSP00000302028:P94S	P	+	1	0	SETD5	9457146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.924000	0.56476	2.628000	0.89032	0.563000	0.77884	CCC		0.423	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		11	21	0	0	0	1	0	11	21				
MAGEA4	4103	broad.mit.edu	37	X	151092219	151092219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:151092219C>T	ENST00000360243.2	+	3	350	c.83C>T	c.(82-84)gCa>gTa	p.A28V	MAGEA4_ENST00000370337.4_Missense_Mutation_p.A28V|MAGEA4_ENST00000370335.1_Missense_Mutation_p.A28V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.A28V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.A28V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.A28V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.A28V	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	28										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGTGGGTGCACAGGCTCCT	0.612													C|||	1	0.000264901	0.0	0.0	3775	,	,		14363	0.001		0.0	False		,,,				2504	0.0					ENST00000360243.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(82-84)gCa>gTa		melanoma antigen family A, 4							46.0	44.0	45.0					X																	151092219		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092219C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.83C>T	X.37:g.151092219C>T	ENSP00000353379:p.Ala28Val					MAGEA4_ENST00000393920.1_Missense_Mutation_p.A28V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.A28V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.A28V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.A28V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.A28V|MAGEA4_ENST00000370335.1_Missense_Mutation_p.A28V	p.A28V	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN			3	350	+	Acute lymphoblastic leukemia(192;6.56e-05)		28					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.83C>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	5.900	0.350165	0.11182	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28	2.4	0.555	0.17247	Melanoma associated antigen, MAGE, N-terminal (1);	1.806090	0.02674	N	0.108921	T	0.08447	0.0210	L	0.28776	0.89	0.09310	N	1	B	0.27229	0.172	B	0.39465	0.3	T	0.42275	-0.9461	10	0.42905	T	0.14	.	4.4603	0.11663	0.0:0.641:0.0:0.359	.	28	P43358	MAGA4_HUMAN	V	28	ENSP00000387777:A28V;ENSP00000276344:A28V;ENSP00000391904:A28V;ENSP00000377498:A28V;ENSP00000394149:A28V;ENSP00000359362:A28V;ENSP00000402624:A28V;ENSP00000377497:A28V;ENSP00000359365:A28V;ENSP00000394073:A28V;ENSP00000400900:A28V;ENSP00000402186:A28V;ENSP00000359360:A28V;ENSP00000353379:A28V;ENSP00000390096:A28V	ENSP00000276344:A28V	A	+	2	0	MAGEA4	150842875	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.393000	0.02521	0.029000	0.15352	0.436000	0.28706	GCA		0.612	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		23	47	0	0	0	1	0	23	47				
ANXA13	312	broad.mit.edu	37	8	124707804	124707804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:124707804C>T	ENST00000419625.1	-	6	481	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ANXA13_ENST00000262219.6_Missense_Mutation_p.E178K	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	137					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ACATCTGATTCGAGGCTCCTA	0.388																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(532-534)Gaa>Aaa		annexin A13							146.0	147.0	147.0					8																	124707804		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124707804C>T	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.409G>A	8.37:g.124707804C>T	ENSP00000390809:p.Glu137Lys					ANXA13_ENST00000419625.1_Missense_Mutation_p.E137K	p.E178K	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	599	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		137					Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.532G>A	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.868158	0.72065	.	.	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.04194	3.68;3.68;3.68	6.04	5.16	0.70880	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.10706	-1.0618	10	0.87932	D	0	.	16.3318	0.83023	0.0:0.8675:0.1325:0.0	.	137;178	P27216;P27216-2	ANX13_HUMAN;.	K	178;137;108	ENSP00000262219:E178K;ENSP00000390809:E137K;ENSP00000429358:E108K	ENSP00000262219:E178K	E	-	1	0	ANXA13	124776985	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	5.319000	0.65835	1.545000	0.49373	0.561000	0.74099	GAA		0.388	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		41	72	0	0	0	1	0	41	72				
GOLGA4	2803	broad.mit.edu	37	3	37369145	37369145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:37369145C>T	ENST00000361924.2	+	14	6142	c.5768C>T	c.(5767-5769)gCc>gTc	p.A1923V	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.A1945V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1923	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACATGGAAGCCCAGCACAAT	0.418																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5767-5769)gCc>gTc		golgin A4							100.0	104.0	103.0					3																	37369145		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37369145C>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5768C>T	3.37:g.37369145C>T	ENSP00000354486:p.Ala1923Val					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.A1945V	p.A1923V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	6142	+			1923			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.5768C>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	4.584	0.108542	0.08780	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23348	1.92;1.91;1.92	4.63	-4.44	0.03557	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.001	T	0.27297	-1.0078	9	0.35671	T	0.21	.	1.7511	0.02972	0.1625:0.3579:0.272:0.2076	.	1923;1923;1945;1923	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	V	1923;1945;1794	ENSP00000354486:A1923V;ENSP00000349305:A1945V;ENSP00000405842:A1794V	ENSP00000349305:A1945V	A	+	2	0	GOLGA4	37344149	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.286000	0.18902	-0.495000	0.06659	-0.852000	0.03032	GCC		0.418	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		11	62	0	0	0	1	0	11	62				
ARID5A	10865	broad.mit.edu	37	2	97217502	97217502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:97217502C>T	ENST00000357485.3	+	7	1315	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	ARID5A_ENST00000454558.2_Missense_Mutation_p.P345S	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	413					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CTACCCCAAGCCCAAAGCCTG	0.657																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(1033-1035)Ccc>Tcc		AT rich interactive domain 5A (MRF1-like)							44.0	41.0	42.0					2																	97217502		2203	4300	6503	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97217502C>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1237C>T	2.37:g.97217502C>T	ENSP00000350078:p.Pro413Ser					ARID5A_ENST00000357485.3_Missense_Mutation_p.P413S	p.P345S			Q03989	ARI5A_HUMAN			7	2210	+			413					Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.1033C>T	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724490	0.68959	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.65364	-0.15	5.22	5.22	0.72569	.	0.000000	0.50627	D	0.000102	T	0.76926	0.4056	M	0.67953	2.075	0.32752	N	0.506309	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.963;0.996	T	0.82420	-0.0466	10	0.66056	D	0.02	-22.4757	14.6192	0.68572	0.0:1.0:0.0:0.0	.	413;345;413	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	S	413;413;345	ENSP00000350078:P413S	ENSP00000350078:P413S	P	+	1	0	ARID5A	96581229	0.576000	0.26700	1.000000	0.80357	0.771000	0.43674	0.994000	0.29693	2.588000	0.87417	0.655000	0.94253	CCC		0.657	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		9	33	0	0	0	1	0	9	33				
MYZAP	100820829	broad.mit.edu	37	15	57913827	57913827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:57913827G>A	ENST00000267853.5	+	4	434	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	GCOM1_ENST00000572390.1_Missense_Mutation_p.V114M|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.V114M|MYZAP_ENST00000380565.4_Missense_Mutation_p.V114M|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000574161.1_Missense_Mutation_p.V114M|GCOM1_ENST00000380560.2_Intron|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380568.3_Missense_Mutation_p.V114M|GCOM1_ENST00000587652.1_Missense_Mutation_p.V114M			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	114					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)											TTTGGAAAAGGTGAGAAAGCG	0.388																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(340-342)Gtg>Atg									134.0	129.0	131.0					15																	57913827		2192	4292	6484	SO:0001583	missense	0				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57913827G>A	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.340G>A	15.37:g.57913827G>A	ENSP00000267853:p.Val114Met					GCOM1_ENST00000380569.2_Missense_Mutation_p.V114M|MYZAP_ENST00000380565.4_Missense_Mutation_p.V114M|GCOM1_ENST00000380560.2_Intron|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000572390.1_Missense_Mutation_p.V114M|GCOM1_ENST00000587652.1_Missense_Mutation_p.V114M|MYZAP_ENST00000267853.5_Missense_Mutation_p.V114M|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380568.3_Missense_Mutation_p.V114M|GCOM1_ENST00000396180.1_Intron	p.V114M	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			4	459	+			114					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	c.340G>A	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241556	0.79912	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T	0.36699	1.26;1.24;1.27;1.26	5.66	5.66	0.87406	.	0.056250	0.64402	D	0.000001	T	0.48909	0.1526	L	0.55481	1.735	0.80722	D	1	P;D;P;P	0.58970	0.785;0.984;0.943;0.934	P;P;P;P	0.57911	0.526;0.819;0.699;0.829	T	0.42498	-0.9448	10	0.56958	D	0.05	-19.4449	12.251	0.54597	0.079:0.0:0.921:0.0	.	114;114;114;114	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	M	114	ENSP00000369943:V114M;ENSP00000267853:V114M;ENSP00000369939:V114M;ENSP00000369942:V114M	ENSP00000267853:V114M	V	+	1	0	GCOM1	55701119	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	5.633000	0.67825	2.827000	0.97445	0.643000	0.83706	GTG		0.388	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		4	88	0	0	0	1	0	4	88				
PAPOLB	56903	broad.mit.edu	37	7	4900686	4900686	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4900686C>T	ENST00000404991.1	-	1	939	c.753G>A	c.(751-753)atG>atA	p.M251I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	251					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TTGCTACTAGCATGGCCCAGG	0.448																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(751-753)atG>atA		poly(A) polymerase beta (testis specific)							112.0	115.0	114.0					7																	4900686		2203	4300	6503	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900686C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.753G>A	7.37:g.4900686C>T	ENSP00000384700:p.Met251Ile					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.M251I	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	939	-		Ovarian(82;0.0175)	251					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.753G>A		.	.	.	.	.	.	.	.	.	.	C	13.47	2.247962	0.39697	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.22	3.34	0.38264	.	.	.	.	.	T	0.61148	0.2324	L	0.39147	1.195	0.53688	D	0.99997	D	0.56746	0.977	P	0.60415	0.874	T	0.59241	-0.7491	8	0.40728	T	0.16	.	10.5222	0.44924	0.0:0.9033:0.0:0.0967	.	252	A4D1Z6	.	I	251	.	ENSP00000384700:M251I	M	-	3	0	PAPOLB	4867212	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.546000	0.82137	1.373000	0.46208	0.591000	0.81541	ATG		0.448	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		53	142	0	0	0	1	0	53	142				
LONP2	83752	broad.mit.edu	37	16	48337217	48337217	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:48337217G>A	ENST00000285737.4	+	11	1888		c.e11+1		LONP2_ENST00000535754.1_Splice_Site	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGAGAGAAGGTTGGTGACCT	0.537																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e11+1		lon peptidase 2, peroxisomal							275.0	214.0	235.0					16																	48337217		2200	4300	6500	SO:0001630	splice_region_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48337217G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1795+1G>A	16.37:g.48337217G>A						LONP2_ENST00000535754.1_Splice_Site		NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			11	1888	+									Splice_Site	SNP	ENST00000285737.4	37		CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722695	0.48728	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8308	0.92139	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LONP2	46894718	1.000000	0.71417	0.997000	0.53966	0.460000	0.32559	7.580000	0.82523	2.659000	0.90383	0.655000	0.94253	.		0.537	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	Intron	43	81	0	0	0	1	0	43	81				
NOA1	84273	broad.mit.edu	37	4	57843046	57843046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:57843046C>T	ENST00000264230.4	-	1	1943	c.706G>A	c.(706-708)Gcg>Acg	p.A236T	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	236	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CCCACCAGCGCGGGCAAGTCG	0.701																																						ENST00000264230.4																			0											c.(706-708)Gcg>Acg		nitric oxide associated 1							33.0	39.0	37.0					4																	57843046		2198	4291	6489	SO:0001583	missense	84273						GTP binding	g.chr4:57843046C>T	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.706G>A	4.37:g.57843046C>T	ENSP00000264230:p.Ala236Thr						p.A236T	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	1943	-			236					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.706G>A	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	5.718	0.316959	0.10845	.	.	ENSG00000084092	ENST00000264230	T	0.14144	2.53	5.52	0.703	0.18116	.	0.872180	0.10341	N	0.686325	T	0.07143	0.0181	L	0.37800	1.135	0.09310	N	1	P	0.44006	0.824	B	0.27076	0.076	T	0.31558	-0.9939	10	0.34782	T	0.22	.	4.8369	0.13469	0.1354:0.5099:0.0:0.3547	.	236	Q8NC60	CD014_HUMAN	T	236	ENSP00000264230:A236T	ENSP00000264230:A236T	A	-	1	0	C4orf14	57537803	0.063000	0.20901	0.001000	0.08648	0.222000	0.24845	1.661000	0.37408	0.009000	0.14813	-0.300000	0.09419	GCG		0.701	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		43	64	0	0	0	1	0	43	64				
TUBGCP3	10426	broad.mit.edu	37	13	113242230	113242230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:113242230C>T	ENST00000261965.3	-	1	251	c.65G>A	c.(64-66)gGc>gAc	p.G22D	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.G22D	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	22					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTCGCTCCTGCCCAGGATCCT	0.701																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(64-66)gGc>gAc		tubulin, gamma complex associated protein 3							29.0	28.0	28.0					13																	113242230		2202	4299	6501	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113242230C>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.65G>A	13.37:g.113242230C>T	ENSP00000261965:p.Gly22Asp					TUBGCP3_ENST00000375669.3_Missense_Mutation_p.G22D	p.G22D	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			1	251	-	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)		22					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.65G>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	c	18.53	3.643564	0.67244	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.25912	1.77;1.77	4.4	3.51	0.40186	.	0.224307	0.44285	D	0.000470	T	0.28764	0.0713	M	0.67953	2.075	0.51767	D	0.999933	B;B;B;B	0.27853	0.02;0.046;0.003;0.191	B;B;B;B	0.25614	0.005;0.04;0.004;0.062	T	0.27905	-1.0060	10	0.59425	D	0.04	-14.8635	14.2316	0.65895	0.0:0.8501:0.1499:0.0	.	22;22;22;22	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	D	22	ENSP00000261965:G22D;ENSP00000364821:G22D	ENSP00000261965:G22D	G	-	2	0	TUBGCP3	112290231	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.195000	0.58400	2.001000	0.58596	0.479000	0.44913	GGC		0.701	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		4	19	0	0	0	1	0	4	19				
RAI1	10743	broad.mit.edu	37	17	17697850	17697850	+	Missense_Mutation	SNP	C	C	T	rs528890426		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:17697850C>T	ENST00000353383.1	+	3	2057	c.1588C>T	c.(1588-1590)Ctc>Ttc	p.L530F	RAI1_ENST00000261641.6_Missense_Mutation_p.L530F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	530					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCGCAGCTTCCTCTACTGCAA	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		18226	0.0		0.0	False		,,,				2504	0.001					ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(1588-1590)Ctc>Ttc		retinoic acid induced 1							38.0	31.0	34.0					17																	17697850		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697850C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1588C>T	17.37:g.17697850C>T	ENSP00000323074:p.Leu530Phe					RAI1_ENST00000261641.6_Missense_Mutation_p.L530F	p.L530F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2057	+			530					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.1588C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569985	0.65765	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69435	-0.4;1.33;0.2	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000013	T	0.77150	0.4088	M	0.62723	1.935	0.36452	D	0.866124	D	0.76494	0.999	D	0.85130	0.997	T	0.79603	-0.1735	10	0.35671	T	0.21	.	11.5482	0.50706	0.0:0.9174:0.0:0.0826	.	530	Q7Z5J4	RAI1_HUMAN	F	530;530;530;530;530;482	ENSP00000323074:L530F;ENSP00000379120:L530F;ENSP00000261641:L530F	ENSP00000261641:L530F	L	+	1	0	RAI1	17638575	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.414000	0.59802	2.271000	0.75665	0.561000	0.74099	CTC		0.662	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		4	32	0	0	0	1	0	4	32				
NOTCH3	4854	broad.mit.edu	37	19	15303202	15303202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:15303202G>A	ENST00000263388.2	-	3	401	c.326C>T	c.(325-327)cCc>cTc	p.P109L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	109	EGF-like 2. {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)			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)			GAAGCCACGGGGGCACCGGCA	0.652																																						ENST00000263388.2																			0				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						c.(325-327)cCc>cTc		notch 3							28.0	25.0	26.0					19																	15303202		2203	4296	6499	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15303202G>A	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.326C>T	19.37:g.15303202G>A	ENSP00000263388:p.Pro109Leu						p.P109L	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		3	401	-			109			EGF-like 2.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.326C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	g	12.13	1.846617	0.32606	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.92048	-2.96	5.17	4.13	0.48395	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.88093	0.6344	L	0.49455	1.56	0.41952	D	0.99066	B;B	0.10296	0.003;0.0	B;B	0.19946	0.027;0.002	T	0.82552	-0.0400	9	0.30078	T	0.28	.	8.977	0.35941	0.1818:0.0:0.8182:0.0	.	112;109	Q59FL3;Q9UM47	.;NOTC3_HUMAN	L	109;111	ENSP00000263388:P109L	ENSP00000263388:P109L	P	-	2	0	NOTCH3	15164202	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	2.158000	0.42329	1.152000	0.42452	0.558000	0.71614	CCC		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		12	17	0	0	0	1	0	12	17				
TCHH	7062	broad.mit.edu	37	1	152083002	152083002	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:152083002C>T	ENST00000368804.1	-	2	2690	c.2691G>A	c.(2689-2691)gaG>gaA	p.E897E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	897					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			TCCTCAGCTGCTCTTGTAGGG	0.582																																						ENST00000368804.1																			0				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						c.(2689-2691)gaG>gaA		trichohyalin							128.0	141.0	137.0					1																	152083002		2135	4251	6386	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083002C>T	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.2691G>A	1.37:g.152083002C>T							p.E897E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2690	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		897					Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.2691G>A	CCDS41396.1																																																																																				0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		14	209	0	0	0	1	0	14	209				
RBM15B	29890	broad.mit.edu	37	3	51430762	51430762	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51430762G>A	ENST00000323686.4	+	1	2032	c.1932G>A	c.(1930-1932)ggG>ggA	p.G644G		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	644					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)			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)		CCAGTGAAGGGACCAAGGAGT	0.642																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1930-1932)ggG>ggA		RNA binding motif protein 15B							26.0	26.0	26.0					3																	51430762		2199	4295	6494	SO:0001819	synonymous_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430762G>A	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.1932G>A	3.37:g.51430762G>A							p.G644G	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2032	+			644					A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	c.1932G>A	CCDS33764.1																																																																																				0.642	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		7	13	0	0	0	1	0	7	13				
SLC5A10	125206	broad.mit.edu	37	17	18922847	18922847	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:18922847C>T	ENST00000395645.3	+	12	1371	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	SLC5A10_ENST00000395642.1_Silent_p.A421A|SLC5A10_ENST00000395647.2_Silent_p.A467A|SLC5A10_ENST00000395643.2_Silent_p.A424A|SLC5A10_ENST00000317977.6_Silent_p.A421A|SLC5A10_ENST00000417251.2_Silent_p.A415A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	451					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)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCTCCCTGGCCCCACCAGTGA	0.627																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1261-1263)gcC>gcT		solute carrier family 5 (sodium/sugar cotransporter), member 10							76.0	64.0	68.0					17																	18922847		2203	4300	6503	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18922847C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1353C>T	17.37:g.18922847C>T						SLC5A10_ENST00000395642.1_Silent_p.A421A|SLC5A10_ENST00000395643.2_Silent_p.A424A|SLC5A10_ENST00000417251.2_Silent_p.A415A|SLC5A10_ENST00000395645.3_Silent_p.A451A|SLC5A10_ENST00000395647.2_Silent_p.A467A	p.A421A			A0PJK1	SC5AA_HUMAN			12	1834	+			451					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.1263C>T	CCDS42275.1																																																																																				0.627	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		10	23	0	0	0	1	0	10	23				
SMG1	23049	broad.mit.edu	37	16	18828735	18828735	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:18828735C>T	ENST00000446231.2	-	57	10364	c.9952G>A	c.(9952-9954)Gaa>Aaa	p.E3318K	SMG1_ENST00000389467.3_Missense_Mutation_p.E3319K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3318					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTAAGGCTTCTGCAGTTCTT	0.413																																						ENST00000446231.2																			0				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						c.(9952-9954)Gaa>Aaa		SMG1 phosphatidylinositol 3-kinase-related kinase							69.0	62.0	64.0					16																	18828735		1874	4118	5992	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18828735C>T	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.9952G>A	16.37:g.18828735C>T	ENSP00000402515:p.Glu3318Lys					SMG1_ENST00000389467.3_Missense_Mutation_p.E3319K	p.E3318K			Q96Q15	SMG1_HUMAN			57	10364	-			3318					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.9952G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898739	0.91962	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01279	5.07;5.06	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000004	T	0.05593	0.0147	L	0.32530	0.975	0.50039	D	0.999841	D	0.63880	0.993	D	0.70935	0.971	T	0.45891	-0.9230	10	0.72032	D	0.01	.	20.0618	0.97678	0.0:1.0:0.0:0.0	.	3318	Q96Q15	SMG1_HUMAN	K	3318;3319	ENSP00000402515:E3318K;ENSP00000374118:E3319K	ENSP00000374118:E3319K	E	-	1	0	SMG1	18736236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.259000	0.78381	2.730000	0.93505	0.650000	0.86243	GAA		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	11	0	0	0	1	0	4	11				
ACAA1	30	broad.mit.edu	37	3	38169294	38169294	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:38169294G>A	ENST00000333167.8	-	7	781	c.609C>T	c.(607-609)gcC>gcT	p.A203A	ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000450296.1_Silent_p.A162A|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000544624.1_Silent_p.A51A|ACAA1_ENST00000301810.7_Silent_p.A170A|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	203					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)			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)		GGGAAGCCAGGGCAAAGGTAT	0.493																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(607-609)gcC>gcT		acetyl-CoA acyltransferase 1							129.0	113.0	118.0					3																	38169294		2203	4300	6503	SO:0001819	synonymous_variant	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38169294G>A	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.609C>T	3.37:g.38169294G>A						ACAA1_ENST00000544624.1_Silent_p.A51A|ACAA1_ENST00000450296.1_Silent_p.A162A|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Silent_p.A170A|ACAA1_ENST00000444607.2_3'UTR	p.A203A	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	7	781	-			203					G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.609C>T	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	8.410	0.844008	0.16963	.	.	ENSG00000060971	ENST00000452171;ENST00000421218	.	.	.	5.58	-11.2	0.00127	.	.	.	.	.	T	0.38852	0.1056	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48927	-0.8991	4	.	.	.	-20.6603	4.0698	0.09877	0.265:0.3364:0.3142:0.0845	.	.	.	.	L	76;93	.	.	P	-	2	0	ACAA1	38144298	0.078000	0.21339	0.149000	0.22428	0.911000	0.54048	-0.624000	0.05540	-3.124000	0.00238	-2.211000	0.00300	CCC		0.493	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		4	35	0	0	0	1	0	4	35				
SLC26A1	10861	broad.mit.edu	37	4	985234	985234	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:985234C>T	ENST00000361661.2	-	3	635	c.258G>A	c.(256-258)caG>caA	p.Q86Q	IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Silent_p.Q86Q|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Silent_p.Q86Q	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	86					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGCGATGGCCTGCGGCACCA	0.642																																						ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(256-258)caG>caA		solute carrier family 26 (anion exchanger), member 1							93.0	86.0	89.0					4																	985234		2203	4300	6503	SO:0001819	synonymous_variant	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:985234C>T	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.258G>A	4.37:g.985234C>T						SLC26A1_ENST00000398516.2_Silent_p.Q86Q|SLC26A1_ENST00000398520.2_Silent_p.Q86Q|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	p.Q86Q	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		3	635	-			86					A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	ENST00000361661.2	37	c.258G>A	CCDS33934.1																																																																																				0.642	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		65	77	0	0	0	1	0	65	77				
N4BP2L2	10443	broad.mit.edu	37	13	33110148	33110148	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:33110148G>A	ENST00000267068.3	-	2	1181	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Silent_p.D339D|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	339					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCTCACTACAGTCAGTATATT	0.368																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1015-1017)gaC>gaT		NEDD4 binding protein 2-like 2							96.0	93.0	94.0					13																	33110148		2203	4300	6503	SO:0001819	synonymous_variant	10443							g.chr13:33110148G>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1017C>T	13.37:g.33110148G>A						N4BP2L2_ENST00000446957.2_Silent_p.D339D|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron	p.D339D	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	1181	-		Lung SC(185;0.0262)	339					A3KME8	Silent	SNP	ENST00000267068.3	37	c.1017C>T	CCDS9346.1																																																																																				0.368	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		28	45	0	0	0	1	0	28	45				
COL4A2	1284	broad.mit.edu	37	13	111130378	111130378	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:111130378G>A	ENST00000360467.5	+	30	2760	c.2454G>A	c.(2452-2454)ggG>ggA	p.G818G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	818	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)			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)			GGATGCCAGGGCTGAAGGGCC	0.632																																						ENST00000360467.5																			0				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						c.(2452-2454)ggG>ggA		collagen, type IV, alpha 2							29.0	33.0	32.0					13																	111130378		1915	4119	6034	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111130378G>A	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.2454G>A	13.37:g.111130378G>A							p.G818G	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		30	2760	+	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)	818			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.2454G>A	CCDS41907.1																																																																																				0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		11	39	0	0	0	1	0	11	39				
DNAH11	8701	broad.mit.edu	37	7	21750309	21750309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:21750309G>A	ENST00000409508.3	+	41	6853	c.6822G>A	c.(6820-6822)atG>atA	p.M2274I	DNAH11_ENST00000328843.6_Missense_Mutation_p.M2281I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2281	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						ATACTGTAATGGATGATAACA	0.363									Kartagener syndrome																													ENST00000328843.6																			0				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						c.(6841-6843)atG>atA		dynein, axonemal, heavy chain 11							87.0	89.0	88.0					7																	21750309		2084	4249	6333	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21750309G>A	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.6822G>A	7.37:g.21750309G>A	ENSP00000475939:p.Met2274Ile					DNAH11_ENST00000409508.3_Missense_Mutation_p.M2274I	p.M2281I			Q96DT5	DYH11_HUMAN			42	6874	+			2281			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6843G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.364301	0.82463	.	.	ENSG00000105877	ENST00000328843	D	0.86627	-2.15	5.98	5.98	0.97165	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.93843	0.7138	9	0.87932	D	0	.	16.7099	0.85382	0.0:0.0:0.8701:0.1299	.	2281	Q96DT5	DYH11_HUMAN	I	2281	ENSP00000330671:M2281I	ENSP00000330671:M2281I	M	+	3	0	DNAH11	21716834	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.688000	0.74557	2.838000	0.97847	0.591000	0.81541	ATG		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	36	0	0	0	1	0	7	36				
NR3C1	2908	broad.mit.edu	37	5	142780110	142780110	+	Missense_Mutation	SNP	C	C	T	rs72542740		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:142780110C>T	ENST00000343796.2	-	2	1288	c.295G>A	c.(295-297)Gga>Aga	p.G99R	NR3C1_ENST00000424646.2_Missense_Mutation_p.G99R|NR3C1_ENST00000415690.2_Missense_Mutation_p.G99R|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Missense_Mutation_p.G99R|NR3C1_ENST00000394466.2_Missense_Mutation_p.G99R|NR3C1_ENST00000503201.1_Missense_Mutation_p.G99R|NR3C1_ENST00000504572.1_Missense_Mutation_p.G99R|NR3C1_ENST00000231509.3_Missense_Mutation_p.G99R	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	99	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	AGGTCATTTCCCATCACTTTT	0.473																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(295-297)Gga>Aga		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						124.0	139.0	134.0					5																	142780110		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142780110C>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.295G>A	5.37:g.142780110C>T	ENSP00000343205:p.Gly99Arg					NR3C1_ENST00000394464.2_Missense_Mutation_p.G99R|NR3C1_ENST00000231509.3_Missense_Mutation_p.G99R|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.G99R|NR3C1_ENST00000394466.2_Missense_Mutation_p.G99R|NR3C1_ENST00000424646.2_Missense_Mutation_p.G99R|NR3C1_ENST00000504572.1_Missense_Mutation_p.G99R|NR3C1_ENST00000503201.1_Missense_Mutation_p.G99R	p.G99R	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1288	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	99			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.295G>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206852	0.79127	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;T;T;T;T;T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13	5.14	5.14	0.70334	.	0.151796	0.51477	D	0.000089	T	0.66356	0.2781	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.992	T	0.65298	-0.6202	10	0.33940	T	0.23	.	18.6301	0.91357	0.0:1.0:0.0:0.0	.	99;99;99	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	R	99	ENSP00000377977:G99R;ENSP00000343205:G99R;ENSP00000387672:G99R;ENSP00000405282:G99R;ENSP00000422518:G99R;ENSP00000377979:G99R;ENSP00000231509:G99R;ENSP00000427672:G99R;ENSP00000424747:G99R;ENSP00000425313:G99R;ENSP00000420856:G99R;ENSP00000426478:G99R;ENSP00000425374:G99R	ENSP00000231509:G99R	G	-	1	0	NR3C1	142760303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.830000	0.62745	2.400000	0.81607	0.561000	0.74099	GGA		0.473	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			46	95	0	0	0	1	0	46	95				
TFR2	7036	broad.mit.edu	37	7	100231077	100231077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100231077C>T	ENST00000462107.1	-	5	863	c.576G>A	c.(574-576)tgG>tgA	p.W192*	TFR2_ENST00000223051.3_Nonsense_Mutation_p.W192*|TFR2_ENST00000431692.1_Nonsense_Mutation_p.W192*|TFR2_ENST00000544242.1_5'Flank			Q9UP52	TFR2_HUMAN	transferrin receptor 2	192					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GCGTGTCGGTCCACACGTGGT	0.726																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(574-576)tgG>tgA		transferrin receptor 2							23.0	25.0	24.0					7																	100231077		2198	4298	6496	SO:0001587	stop_gained	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100231077C>T	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.576G>A	7.37:g.100231077C>T	ENSP00000420525:p.Trp192*					TFR2_ENST00000223051.3_Nonsense_Mutation_p.W192*|TFR2_ENST00000431692.1_Nonsense_Mutation_p.W192*	p.W192*			Q9UP52	TFR2_HUMAN			5	863	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		192					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Nonsense_Mutation	SNP	ENST00000462107.1	37	c.576G>A	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	C	36	5.760175	0.96898	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1596	13.6517	0.62314	0.0:1.0:0.0:0.0	.	.	.	.	X	192	.	ENSP00000223051:W192X	W	-	3	0	TFR2	100069013	1.000000	0.71417	0.987000	0.45799	0.641000	0.38312	4.339000	0.59322	2.606000	0.88127	0.561000	0.74099	TGG		0.726	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		20	43	0	0	0	1	0	20	43				
TPR	7175	broad.mit.edu	37	1	186322851	186322851	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:186322851C>T	ENST00000367478.4	-	18	2599	c.2303G>A	c.(2302-2304)aGa>aAa	p.R768K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	768					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTTGCTCCTCTCAAATCTTG	0.373			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(2302-2304)aGa>aAa		translocated promoter region, nuclear basket protein							272.0	251.0	257.0					1																	186322851		1919	4130	6049	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186322851C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2303G>A	1.37:g.186322851C>T	ENSP00000356448:p.Arg768Lys					TPR_ENST00000474852.1_5'UTR	p.R768K	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	18	2599	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	768					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.2303G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823713	0.50739	.	.	ENSG00000047410	ENST00000367478	T	0.16196	2.36	5.71	4.8	0.61643	.	0.093717	0.85682	N	0.000000	T	0.15652	0.0377	L	0.56769	1.78	0.43517	D	0.995788	P	0.34864	0.473	B	0.24848	0.056	T	0.04294	-1.0962	10	0.13470	T	0.59	.	14.7248	0.69336	0.0:0.9307:0.0:0.0693	.	768	P12270	TPR_HUMAN	K	768	ENSP00000356448:R768K	ENSP00000356448:R768K	R	-	2	0	TPR	184589474	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	2.361000	0.44160	1.415000	0.47037	-0.140000	0.14226	AGA		0.373	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		53	111	0	0	0	1	0	53	111				
FBXO24	26261	broad.mit.edu	37	7	100190523	100190523	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100190523G>A	ENST00000241071.6	+	5	998	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.V212I|FBXO24_ENST00000468962.1_Missense_Mutation_p.V214I|FBXO24_ENST00000427939.2_Missense_Mutation_p.V264I|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.V212I	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	226					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGTGTTGAGGTCTATCTGCA	0.567																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(676-678)Gtc>Atc		F-box protein 24							102.0	85.0	91.0					7																	100190523		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100190523G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.676G>A	7.37:g.100190523G>A	ENSP00000241071:p.Val226Ile					FBXO24_ENST00000427939.2_Missense_Mutation_p.V264I|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.V214I|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.V212I|FBXO24_ENST00000465843.1_Missense_Mutation_p.V212I	p.V226I	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			5	998	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		226					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.676G>A	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861735	0.91433	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.58797	1.83;0.31;0.31;1.83;1.79	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000023	T	0.64382	0.2593	N	0.19112	0.55	0.43545	D	0.995842	D;D;D;D	0.64830	0.994;0.994;0.994;0.959	D;D;D;D	0.72625	0.978;0.978;0.978;0.949	T	0.67546	-0.5643	10	0.62326	D	0.03	-31.7969	17.4859	0.87688	0.0:0.0:1.0:0.0	.	214;264;226;212	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	I	226;212;212;214;264	ENSP00000241071:V226I;ENSP00000353821:V212I;ENSP00000419602:V212I;ENSP00000420239:V214I;ENSP00000416558:V264I	ENSP00000241071:V226I	V	+	1	0	FBXO24	100028459	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.079000	0.71291	2.740000	0.93945	0.558000	0.71614	GTC		0.567	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			16	58	0	0	0	1	0	16	58				
ARHGAP25	9938	broad.mit.edu	37	2	69046350	69046350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69046350C>T	ENST00000295381.3	+	9	1515	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.Q360*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.Q367*|ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.Q359*|ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.Q60*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.Q327*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.Q360*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	366					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACCCCCTGCCCAGAAAAATGA	0.512																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1096-1098)Cag>Tag		Rho GTPase activating protein 25							114.0	123.0	120.0					2																	69046350		2203	4300	6503	SO:0001587	stop_gained	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046350C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1096C>T	2.37:g.69046350C>T	ENSP00000295381:p.Gln366*					ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.Q360*|ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.Q60*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.Q360*|ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.Q359*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.Q327*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.Q367*	p.Q366*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			9	1515	+			366					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Nonsense_Mutation	SNP	ENST00000295381.3	37	c.1096C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.801305	0.96960	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	.	.	.	5.12	4.23	0.50019	.	0.949937	0.08868	N	0.881942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	14.4419	0.67323	0.1484:0.8516:0.0:0.0	.	.	.	.	X	366;367;327;359;360;360;360;351;60	.	ENSP00000295381:Q366X	Q	+	1	0	ARHGAP25	68899854	0.350000	0.24878	0.995000	0.50966	0.098000	0.18820	3.939000	0.56591	1.494000	0.48533	0.563000	0.77884	CAG		0.512	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		49	86	0	0	0	1	0	49	86				
ADAMTS4	9507	broad.mit.edu	37	1	161166458	161166458	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161166458C>T	ENST00000367996.5	-	2	1274	c.846G>A	c.(844-846)ggG>ggA	p.G282G	ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.G282G|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	282	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|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)			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)	CAGCACTGGGCCCCACTTGGG	0.637																																						ENST00000367996.4																			0				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						c.(844-846)ggG>ggA		ADAM metallopeptidase with thrombospondin type 1 motif, 4							65.0	72.0	70.0					1																	161166458		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161166458C>T	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.846G>A	1.37:g.161166458C>T						ADAMTS4_ENST00000367995.3_Silent_p.G282G	p.G282G	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		2	1274	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		282			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.846G>A	CCDS1223.1																																																																																				0.637	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		11	60	0	0	0	1	0	11	60				
B3GAT1	27087	broad.mit.edu	37	11	134252811	134252811	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:134252811C>T	ENST00000524765.1	-	4	5255	c.711G>A	c.(709-711)aaG>aaA	p.K237K	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Silent_p.K237K|B3GAT1_ENST00000392580.1_Silent_p.K237K|B3GAT1_ENST00000537389.1_Silent_p.K250K			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	237					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGCCGACCACCTTCCCTGCCC	0.647																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(709-711)aaG>aaA		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							57.0	46.0	50.0					11																	134252811		2201	4296	6497	SO:0001819	synonymous_variant	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134252811C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.711G>A	11.37:g.134252811C>T						B3GAT1_ENST00000392580.1_Silent_p.K237K|B3GAT1_ENST00000537389.1_Silent_p.K250K|B3GAT1_ENST00000312527.4_Silent_p.K237K	p.K237K			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	4	5255	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	237					Q96FS7	Silent	SNP	ENST00000524765.1	37	c.711G>A	CCDS8500.1																																																																																				0.647	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		5	10	0	0	0	1	0	5	10				
FRYL	285527	broad.mit.edu	37	4	48542800	48542800	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:48542800C>T	ENST00000503238.1	-	43	5864	c.5865G>A	c.(5863-5865)cgG>cgA	p.R1955R	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.R1955R|FRYL_ENST00000358350.4_Silent_p.R1955R|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1955					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGTTACTCCGCCGCCGGTCAC	0.418																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5863-5865)cgG>cgA		FRY-like							100.0	98.0	99.0					4																	48542800		1896	4115	6011	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48542800C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5865G>A	4.37:g.48542800C>T						FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Silent_p.R1955R|FRYL_ENST00000503238.1_Silent_p.R1955R	p.R1955R			O94915	FRYL_HUMAN			46	6469	-			1955					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.5865G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839133	0.16891	.	.	ENSG00000075539	ENST00000514617	.	.	.	6.16	5.16	0.70880	.	.	.	.	.	T	0.69504	0.3118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66152	-0.5995	4	.	.	.	.	14.1163	0.65156	0.0:0.8909:0.0:0.1091	.	.	.	.	T	825	.	.	A	-	1	0	FRYL	48237557	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.585000	0.23879	2.937000	0.99478	0.650000	0.86243	GCG		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			5	89	0	0	0	1	0	5	89				
REPS2	9185	broad.mit.edu	37	X	17121861	17121861	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:17121861C>T	ENST00000357277.3	+	14	1708	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Missense_Mutation_p.P512S|REPS2_ENST00000380064.4_Missense_Mutation_p.P312S	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	513	Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AGGATTGTTACCCCCACCACC	0.418																																						ENST00000357277.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17						c.(1537-1539)Ccc>Tcc		RALBP1 associated Eps domain containing 2							174.0	129.0	145.0					X																	17121861		2203	4300	6503	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17121861C>T	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1537C>T	X.37:g.17121861C>T	ENSP00000349824:p.Pro513Ser					REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Missense_Mutation_p.P512S|REPS2_ENST00000380064.4_Missense_Mutation_p.P312S	p.P513S	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN			14	1708	+	Hepatocellular(33;0.183)		513			Pro-rich.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.1537C>T	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613862	0.46631	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.40756	1.35;1.39;1.02	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000019	T	0.59878	0.2226	M	0.73598	2.24	0.53688	D	0.999978	P;D;P	0.63880	0.891;0.993;0.877	B;D;P	0.67103	0.439;0.949;0.494	T	0.57946	-0.7723	10	0.28530	T	0.3	-11.4451	12.1093	0.53830	0.0:1.0:0.0:0.0	.	312;512;513	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	S	513;513;512;312	ENSP00000349824:P513S;ENSP00000306033:P512S;ENSP00000369404:P312S	ENSP00000306033:P512S	P	+	1	0	REPS2	17031782	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	3.272000	0.51616	2.246000	0.74042	0.544000	0.68410	CCC		0.418	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		6	81	0	0	0	1	0	6	81				
PPP6R3	55291	broad.mit.edu	37	11	68367948	68367948	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:68367948C>T	ENST00000393800.2	+	20	2432	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	PPP6R3_ENST00000265637.4_Silent_p.F680F|PPP6R3_ENST00000529710.1_Silent_p.F646F|PPP6R3_ENST00000524845.1_Silent_p.F697F|PPP6R3_ENST00000265636.5_Silent_p.F646F|PPP6R3_ENST00000524904.1_Silent_p.F720F|PPP6R3_ENST00000393799.2_Silent_p.F726F|PPP6R3_ENST00000393801.3_Silent_p.F726F|PPP6R3_ENST00000534534.1_Silent_p.F494F|PPP6R3_ENST00000527403.2_Silent_p.F691F	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	726					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTTCAGAGTTCACGTCTTCCC	0.537																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2176-2178)ttC>ttT		protein phosphatase 6, regulatory subunit 3							136.0	115.0	122.0					11																	68367948		2200	4294	6494	SO:0001819	synonymous_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68367948C>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2178C>T	11.37:g.68367948C>T						PPP6R3_ENST00000524845.1_Silent_p.F697F|PPP6R3_ENST00000265636.5_Silent_p.F646F|PPP6R3_ENST00000534534.1_Silent_p.F494F|PPP6R3_ENST00000393800.2_Silent_p.F726F|PPP6R3_ENST00000524904.1_Silent_p.F720F|PPP6R3_ENST00000527403.2_Silent_p.F691F|PPP6R3_ENST00000529710.1_Silent_p.F646F|PPP6R3_ENST00000265637.4_Silent_p.F680F|PPP6R3_ENST00000393801.3_Silent_p.F726F	p.F726F			Q5H9R7	PP6R3_HUMAN			20	2445	+			726					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	c.2178C>T	CCDS53672.1																																																																																				0.537	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		25	39	0	0	0	1	0	25	39				
NCOR1	9611	broad.mit.edu	37	17	16089968	16089968	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:16089968G>A	ENST00000268712.3	-	3	399	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F	NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.L48F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	48	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTCACTTCAAGATGAGAGGAA	0.408																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(142-144)Ctt>Ttt		nuclear receptor corepressor 1							91.0	83.0	86.0					17																	16089968		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16089968G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.142C>T	17.37:g.16089968G>A	ENSP00000268712:p.Leu48Phe					NCOR1_ENST00000395851.1_Missense_Mutation_p.L48F|NCOR1_ENST00000395848.1_Intron	p.L48F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	3	399	-			48			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.142C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654235	0.29425	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.47177	0.85;1.46	5.78	2.66	0.31614	.	0.192195	0.33364	N	0.004999	T	0.43722	0.1260	L	0.55990	1.75	0.80722	D	1	P;P;P;P;B;P	0.51351	0.944;0.944;0.836;0.944;0.05;0.846	P;P;B;P;B;B	0.47981	0.563;0.563;0.319;0.563;0.082;0.338	T	0.21449	-1.0245	10	0.36615	T	0.2	-2.5953	5.4775	0.16704	0.1455:0.0:0.5578:0.2967	.	48;48;48;48;48;48	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	F	48	ENSP00000268712:L48F;ENSP00000379192:L48F	ENSP00000268712:L48F	L	-	1	0	NCOR1	16030693	1.000000	0.71417	0.943000	0.38184	0.893000	0.52053	1.360000	0.34125	0.331000	0.23511	-0.261000	0.10672	CTT		0.408	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		16	55	0	0	0	1	0	16	55				
ULK2	9706	broad.mit.edu	37	17	19748668	19748668	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:19748668G>A	ENST00000395544.4	-	7	991	c.492C>T	c.(490-492)taC>taT	p.Y164Y	ULK2_ENST00000361658.2_Silent_p.Y164Y	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TACTATGTAGGTAACGAGCAA	0.398																																						ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(490-492)taC>taT		unc-51 like autophagy activating kinase 2							163.0	133.0	143.0					17																	19748668		2203	4300	6503	SO:0001819	synonymous_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19748668G>A	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.492C>T	17.37:g.19748668G>A						ULK2_ENST00000361658.2_Silent_p.Y164Y	p.Y164Y	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			7	991	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		164			Protein kinase.		A8MY69|O75119	Silent	SNP	ENST00000395544.4	37	c.492C>T	CCDS11213.1																																																																																				0.398	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		33	48	0	0	0	1	0	33	48				
SLC25A40	55972	broad.mit.edu	37	7	87476379	87476379	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:87476379C>T	ENST00000341119.5	-	8	862	c.516G>A	c.(514-516)aaG>aaA	p.K172K		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	172					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAGAAAACTTCTTGGACTGCA	0.388																																						ENST00000341119.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17						c.(514-516)aaG>aaA		solute carrier family 25, member 40							154.0	160.0	158.0					7																	87476379		2203	4300	6503	SO:0001819	synonymous_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87476379C>T	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.516G>A	7.37:g.87476379C>T							p.K172K	NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN			8	862	-	Esophageal squamous(14;0.00202)		172					A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	c.516G>A	CCDS5610.1																																																																																				0.388	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		7	377	0	0	0	1	0	7	377				
LSM3	27258	broad.mit.edu	37	3	14239579	14239579	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:14239579G>A	ENST00000306024.3	+	4	775	c.272G>A	c.(271-273)gGc>gAc	p.G91D		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	91					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						CGGGGAGATGGCGTTGTCCTG	0.418																																						ENST00000306024.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(1)	4						c.(271-273)gGc>gAc		LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)							114.0	110.0	111.0					3																	14239579		2203	4300	6503	SO:0001583	missense	27258				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding	g.chr3:14239579G>A	AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.272G>A	3.37:g.14239579G>A	ENSP00000302160:p.Gly91Asp						p.G91D	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN			4	775	+			91					Q6IAH0|Q9Y4Z1	Missense_Mutation	SNP	ENST00000306024.3	37	c.272G>A	CCDS2619.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978958	0.92982	.	.	ENSG00000170860	ENST00000306024	T	0.41065	1.01	5.8	5.8	0.92144	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.051447	0.85682	N	0.000000	T	0.67730	0.2924	M	0.89287	3.02	0.80722	D	1	P	0.37594	0.601	P	0.53062	0.717	T	0.70288	-0.4913	10	0.62326	D	0.03	-11.4998	16.9661	0.86286	0.0:0.0:1.0:0.0	.	91	P62310	LSM3_HUMAN	D	91	ENSP00000302160:G91D	ENSP00000302160:G91D	G	+	2	0	LSM3	14214583	1.000000	0.71417	0.879000	0.34478	0.987000	0.75469	6.441000	0.73439	2.745000	0.94114	0.491000	0.48974	GGC		0.418	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252078.3	NM_014463		24	41	0	0	0	1	0	24	41				
POLQ	10721	broad.mit.edu	37	3	121207856	121207856	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:121207856C>T	ENST00000264233.5	-	16	4050	c.3922G>A	c.(3922-3924)Gtt>Att	p.V1308I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1308					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTCAGAAACATGATTATTT	0.313								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3922-3924)Gtt>Att	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							96.0	91.0	92.0					3																	121207856		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207856C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3922G>A	3.37:g.121207856C>T	ENSP00000264233:p.Val1308Ile						p.V1308I	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4050	-			1308					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3922G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	1.241	-0.621265	0.03636	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50548	0.74	5.98	0.776	0.18532	.	0.922015	0.09267	N	0.825747	T	0.31136	0.0787	L	0.27053	0.805	0.09310	N	1	B;B	0.15473	0.001;0.013	B;B	0.12156	0.001;0.007	T	0.23226	-1.0194	10	0.29301	T	0.29	.	6.1093	0.20092	0.1257:0.6062:0.0819:0.1861	.	1308;480	O75417;O75417-2	DPOLQ_HUMAN;.	I	931;1308;1444	ENSP00000264233:V1308I	ENSP00000264233:V1308I	V	-	1	0	POLQ	122690546	0.002000	0.14202	0.000000	0.03702	0.112000	0.19704	-0.128000	0.10531	0.147000	0.19030	-1.119000	0.02030	GTT		0.313	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		33	80	0	0	0	1	0	33	80				
HGSNAT	138050	broad.mit.edu	37	8	43014143	43014143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:43014143C>T	ENST00000458501.2	+	4	533	c.533C>T	c.(532-534)gCc>gTc	p.A178V	HGSNAT_ENST00000379644.4_Missense_Mutation_p.A150V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	178					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGTGAAATTGCCTGTGACCTG	0.363																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(532-534)gCc>gTc		heparan-alpha-glucosaminide N-acetyltransferase							157.0	152.0	153.0					8																	43014143		1889	4121	6010	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43014143C>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.533C>T	8.37:g.43014143C>T	ENSP00000389524:p.Ala178Val					HGSNAT_ENST00000379644.4_Missense_Mutation_p.A150V	p.A178V			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		4	533	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	178					B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.533C>T		.	.	.	.	.	.	.	.	.	.	C	8.267	0.812505	0.16537	.	.	ENSG00000165102	ENST00000458501;ENST00000332689;ENST00000379644	D;D	0.92647	-3.08;-3.08	5.71	2.93	0.34026	.	0.768562	0.12491	N	0.464260	D	0.85639	0.5743	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.71738	-0.4502	10	0.30078	T	0.28	-2.2042	5.9443	0.19209	0.0:0.6741:0.1571:0.1688	.	178	Q68CP4	HGNAT_HUMAN	V	178;150;150	ENSP00000389524:A178V;ENSP00000368965:A150V	ENSP00000327833:A150V	A	+	2	0	HGSNAT	43133300	0.014000	0.17966	0.000000	0.03702	0.017000	0.09413	2.559000	0.45888	0.357000	0.24183	-0.282000	0.10007	GCC		0.363	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		7	17	0	0	0	1	0	7	17				
GON4L	54856	broad.mit.edu	37	1	155735342	155735342	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155735342C>T	ENST00000368331.1	-	21	3970	c.3922G>A	c.(3922-3924)Ggc>Agc	p.G1308S	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.G1308S|GON4L_ENST00000361040.5_Missense_Mutation_p.G1308S|GON4L_ENST00000271883.5_Missense_Mutation_p.G1308S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1308					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTGGATGCCCTGAGGGAGC	0.522																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(3922-3924)Ggc>Agc		gon-4-like (C. elegans)							80.0	77.0	78.0					1																	155735342		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735342C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3922G>A	1.37:g.155735342C>T	ENSP00000357315:p.Gly1308Ser					GON4L_ENST00000361040.5_Missense_Mutation_p.G1308S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.G1308S|GON4L_ENST00000271883.5_Missense_Mutation_p.G1308S	p.G1308S			Q3T8J9	GON4L_HUMAN			21	4044	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1308					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.3922G>A		.	.	.	.	.	.	.	.	.	.	C	12.20	1.865983	0.32977	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.11712	2.97;2.97;2.97;2.75	4.98	-2.09	0.07232	.	1.061630	0.07273	N	0.869494	T	0.02012	0.0063	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.17465	0.022;0.009;0.009;0.016	B;B;B;B	0.14023	0.01;0.004;0.004;0.01	T	0.46541	-0.9184	10	0.08381	T	0.77	.	7.628	0.28222	0.0:0.5047:0.1226:0.3727	.	1308;504;1308;1308	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	S	1308	ENSP00000396117:G1308S;ENSP00000357315:G1308S;ENSP00000271883:G1308S;ENSP00000354322:G1308S	ENSP00000271883:G1308S	G	-	1	0	GON4L	154001966	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.031000	0.12287	-0.269000	0.09298	-0.355000	0.07637	GGC		0.522	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		6	82	0	0	0	1	0	6	82				
USP8	9101	broad.mit.edu	37	15	50782684	50782684	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:50782684G>A	ENST00000396444.3	+	14	2534	c.2196G>A	c.(2194-2196)agG>agA	p.R732R	USP8_ENST00000307179.4_Silent_p.R732R|USP8_ENST00000433963.1_Silent_p.R732R|USP8_ENST00000425032.3_Silent_p.R626R	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	732					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAGAGAAGAGGAAGCCAACAG	0.428																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2194-2196)agG>agA		ubiquitin specific peptidase 8							113.0	114.0	114.0					15																	50782684		2196	4294	6490	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50782684G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2196G>A	15.37:g.50782684G>A						USP8_ENST00000396444.3_Silent_p.R732R|USP8_ENST00000425032.3_Silent_p.R626R|USP8_ENST00000307179.4_Silent_p.R732R	p.R732R	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	15	2696	+			732					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2196G>A	CCDS10137.1																																																																																				0.428	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		7	94	0	0	0	1	0	7	94				
ZNF833P	401898	broad.mit.edu	37	19	11793398	11793398	+	lincRNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11793398C>T	ENST00000344893.3	+	0	1600					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GTGAACTTCACCCAGGAGGAG	0.498																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5																																														0							g.chr19:11793398C>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11793398C>T								NR_028594.1						0	1600	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.498	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		42	104	0	0	0	1	0	42	104				
GJD4	219770	broad.mit.edu	37	10	35896625	35896625	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:35896625G>A	ENST00000321660.1	+	2	342	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	62					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCGGGATGCGCCAATGTTTG	0.627																																						ENST00000321660.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(184-186)Gcc>Acc		gap junction protein, delta 4, 40.1kDa							183.0	150.0	161.0					10																	35896625		2203	4300	6503	SO:0001583	missense	219770				cell communication	connexon complex|integral to membrane		g.chr10:35896625G>A	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.184G>A	10.37:g.35896625G>A	ENSP00000315070:p.Ala62Thr						p.A62T	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN			2	342	+			62					Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	c.184G>A	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573501	0.45902	.	.	ENSG00000177291	ENST00000321660	D	0.99070	-5.39	6.11	-0.616	0.11583	Connexin, conserved site (1);Connexin, N-terminal (2);	0.664868	0.16938	N	0.193380	D	0.94301	0.8169	N	0.12663	0.25	0.34325	D	0.687009	B	0.23937	0.094	B	0.24006	0.05	D	0.89340	0.3653	10	0.20519	T	0.43	.	6.0407	0.19732	0.3145:0.0:0.4201:0.2654	.	62	Q96KN9	CXD4_HUMAN	T	62	ENSP00000315070:A62T	ENSP00000315070:A62T	A	+	1	0	GJD4	35936631	0.988000	0.35896	0.324000	0.25361	0.610000	0.37248	0.590000	0.23954	-0.292000	0.08999	-0.794000	0.03295	GCC		0.627	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		11	185	0	0	0	1	0	11	185				
AIM1	202	broad.mit.edu	37	6	106967225	106967225	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:106967225G>A	ENST00000369066.3	+	2	1405	c.918G>A	c.(916-918)agG>agA	p.R306R		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)				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)		TTGTTGGGAGGGCAAAGCTGA	0.433																																						ENST00000369066.3																			0				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						c.(916-918)agG>agA		absent in melanoma 1							59.0	58.0	58.0					6																	106967225		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106967225G>A	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.918G>A	6.37:g.106967225G>A							p.R306R	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	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)	2	1405	+	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)	306					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.918G>A	CCDS34506.1																																																																																				0.433	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			9	57	0	0	0	1	0	9	57				
ABO	28	broad.mit.edu	37	9	136131348	136131348	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:136131348G>A	ENST00000453660.2	-	0	780				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CTCGTCCTTGGGGATGTAGGC	0.667																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)																																						28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131348G>A	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131348G>A										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	780	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.667	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		4	12	0	0	0	1	0	4	12				
IQGAP3	128239	broad.mit.edu	37	1	156518372	156518372	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156518372C>T	ENST00000361170.2	-	17	2004		c.e17+1			NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCCATTACCTGGACGCTG	0.592																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.e17+1		IQ motif containing GTPase activating protein 3							144.0	102.0	116.0					1																	156518372		2203	4300	6503	SO:0001630	splice_region_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156518372C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1993+1G>A	1.37:g.156518372C>T								NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			17	2004	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)							Q5T3H8	Splice_Site	SNP	ENST00000361170.2	37		CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861808	0.32884	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6951	0.69115	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQGAP3	154784996	1.000000	0.71417	0.993000	0.49108	0.154000	0.21943	6.050000	0.71063	2.241000	0.73720	0.561000	0.74099	.		0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	Intron	6	79	0	0	0	1	0	6	79				
C2orf57	165100	broad.mit.edu	37	2	232458432	232458432	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:232458432G>A	ENST00000313965.2	+	1	858	c.770G>A	c.(769-771)aGg>aAg	p.R257K		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	257										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGGGGAGAAGGCCCCTGGAC	0.652																																						ENST00000313965.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19						c.(769-771)aGg>aAg		chromosome 2 open reading frame 57							90.0	94.0	93.0					2																	232458432		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458432G>A	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.770G>A	2.37:g.232458432G>A	ENSP00000315557:p.Arg257Lys						p.R257K	NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	858	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	257					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.770G>A	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	g	15.21	2.765101	0.49574	.	.	ENSG00000177673	ENST00000313965	T	0.19105	2.17	4.34	2.48	0.30137	.	0.738467	0.11258	N	0.582911	T	0.24122	0.0584	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.58013	0.831	T	0.09443	-1.0674	10	0.42905	T	0.14	-6.9489	6.3122	0.21171	0.2255:0.0:0.7745:0.0	.	257	Q53QW1	CB057_HUMAN	K	257	ENSP00000315557:R257K	ENSP00000315557:R257K	R	+	2	0	C2orf57	232166676	0.000000	0.05858	0.003000	0.11579	0.155000	0.21991	-0.039000	0.12124	1.108000	0.41662	0.563000	0.77884	AGG		0.652	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		48	68	0	0	0	1	0	48	68				
GJD2	57369	broad.mit.edu	37	15	35045573	35045573	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:35045573C>T	ENST00000290374.4	-	2	548	c.72G>A	c.(70-72)agG>agA	p.R24R	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	24					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TCAACAGGATCCTGAACGGAG	0.552																																						ENST00000290374.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.e2-1		gap junction protein, delta 2, 36kDa							55.0	52.0	53.0					15																	35045573		2201	4298	6499	SO:0001630	splice_region_variant	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045573C>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.72-1G>A	15.37:g.35045573C>T							p.R24_splice	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	548	-		all_lung(180;9.67e-07)	24					Q2M241|Q9P2R0	Splice_Site	SNP	ENST00000290374.4	37	c.71_splice	CCDS10040.1																																																																																				0.552	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2		Silent	11	8	0	0	0	1	0	11	8				
LRP3	4037	broad.mit.edu	37	19	33696633	33696633	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:33696633C>T	ENST00000253193.7	+	5	1159	c.957C>T	c.(955-957)gaC>gaT	p.D319D	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	319	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGCGCGGGGACCGCCTGCTGC	0.711																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(955-957)gaC>gaT		low density lipoprotein receptor-related protein 3							9.0	13.0	12.0					19																	33696633		2168	4241	6409	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696633C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.957C>T	19.37:g.33696633C>T							p.D319D	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1159	+	Esophageal squamous(110;0.137)		319			CUB 2.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.957C>T	CCDS12430.1																																																																																				0.711	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			4	5	0	0	0	1	0	4	5				
MVB12B	89853	broad.mit.edu	37	9	129143358	129143358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:129143358G>A	ENST00000361171.3	+	3	301	c.220G>A	c.(220-222)Gat>Aat	p.D74N	MVB12B_ENST00000436593.3_Missense_Mutation_p.D59N|MVB12B_ENST00000545391.1_Missense_Mutation_p.D74N|MVB12B_ENST00000535766.1_Missense_Mutation_p.D67N	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	74	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										ACAGACAGCAGATGGTGTGGA	0.473																																						ENST00000361171.3																			0											c.(220-222)Gat>Aat		multivesicular body subunit 12B							128.0	111.0	116.0					9																	129143358		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129143358G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.220G>A	9.37:g.129143358G>A	ENSP00000354772:p.Asp74Asn					MVB12B_ENST00000436593.3_Missense_Mutation_p.D59N|MVB12B_ENST00000545391.1_Missense_Mutation_p.D74N|MVB12B_ENST00000535766.1_Missense_Mutation_p.D67N	p.D74N	NM_033446.2	NP_258257.1					3	301	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.220G>A	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840951	0.91197	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.15	5.15	0.70609	MABP domain (1);	0.094388	0.64402	D	0.000001	T	0.79034	0.4378	M	0.82823	2.61	0.80722	D	1	D;P;P	0.89917	1.0;0.89;0.761	D;P;P	0.91635	0.999;0.575;0.447	T	0.82141	-0.0604	10	0.66056	D	0.02	-0.9112	18.6946	0.91596	0.0:0.0:1.0:0.0	.	67;59;74	B7Z4X0;B7Z1P9;Q9H7P6	.;.;F125B_HUMAN	N	74;74;59;59;67	ENSP00000354772:D74N;ENSP00000441988:D74N;ENSP00000384751:D59N;ENSP00000401379:D59N;ENSP00000442846:D67N	ENSP00000354772:D74N	D	+	1	0	FAM125B	128183179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.359000	0.97115	2.418000	0.82041	0.650000	0.86243	GAT		0.473	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		17	48	0	0	0	1	0	17	48				
CELSR3	1951	broad.mit.edu	37	3	48683182	48683182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48683182G>A	ENST00000164024.4	-	23	7863	c.7583C>T	c.(7582-7584)cCc>cTc	p.P2528L	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.P2533L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2528	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCTCACGGGGAGAGGCATC	0.617																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7597-7599)cCc>cTc		cadherin, EGF LAG seven-pass G-type receptor 3							42.0	44.0	43.0					3																	48683182		2201	4296	6497	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48683182G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7583C>T	3.37:g.48683182G>A	ENSP00000164024:p.Pro2528Leu					CELSR3_ENST00000164024.4_Missense_Mutation_p.P2528L	p.P2533L			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	24	7878	-			2528					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7598C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	g	14.48	2.547213	0.45383	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71341	-0.56;-0.56	5.43	4.47	0.54385	GPS domain (2);	.	.	.	.	T	0.56615	0.1997	L	0.39245	1.2	0.44899	D	0.997911	B;P	0.38922	0.243;0.651	B;B	0.32677	0.119;0.15	T	0.56025	-0.8047	9	0.29301	T	0.29	.	10.9167	0.47139	0.0:0.0:0.5812:0.4188	.	2528;2598	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	L	2528;2533	ENSP00000164024:P2528L;ENSP00000445694:P2533L	ENSP00000164024:P2528L	P	-	2	0	CELSR3	48658186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.519000	0.60517	2.539000	0.85634	0.651000	0.88453	CCC		0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	23	0	0	0	1	0	4	23				
RASGRP4	115727	broad.mit.edu	37	19	38911594	38911594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:38911594C>T	ENST00000587738.1	-	4	401	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	RASGRP4_ENST00000587753.1_Missense_Mutation_p.G111R|RASGRP4_ENST00000426920.2_Missense_Mutation_p.G111R|RASGRP4_ENST00000454404.2_Missense_Mutation_p.G111R|RASGRP4_ENST00000293062.9_Missense_Mutation_p.G111R|RASGRP4_ENST00000586305.1_Missense_Mutation_p.G111R|RASGRP4_ENST00000433821.2_Missense_Mutation_p.G111R			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	111	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGGTGTCCCCTGTGGCCTTC	0.587																																						ENST00000454404.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(331-333)Ggg>Agg		RAS guanyl releasing protein 4							104.0	115.0	112.0					19																	38911594		2000	4180	6180	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38911594C>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.331G>A	19.37:g.38911594C>T	ENSP00000465772:p.Gly111Arg					RASGRP4_ENST00000433821.2_Missense_Mutation_p.G111R|RASGRP4_ENST00000587753.1_Missense_Mutation_p.G111R|RASGRP4_ENST00000587738.1_Missense_Mutation_p.G111R|RASGRP4_ENST00000426920.2_Missense_Mutation_p.G111R|RASGRP4_ENST00000293062.9_Missense_Mutation_p.G111R|RASGRP4_ENST00000586305.1_Missense_Mutation_p.G111R	p.G111R	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	544	-	all_cancers(60;4.21e-06)		111			N-terminal Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.331G>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	8.195	0.796800	0.16327	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	3.89	2.84	0.33178	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	1.018120	0.07809	N	0.957745	T	0.30854	0.0778	L	0.58101	1.795	0.09310	N	0.999999	B;B;B;B;B;B;B	0.30406	0.164;0.278;0.028;0.004;0.028;0.001;0.002	B;B;B;B;B;B;B	0.31337	0.055;0.128;0.017;0.005;0.017;0.005;0.002	T	0.35500	-0.9786	10	0.72032	D	0.01	-4.5638	5.6981	0.17867	0.0:0.7483:0.0:0.2517	.	111;111;111;111;111;111;111	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	R	111	ENSP00000411878:G111R;ENSP00000293062:G111R;ENSP00000445966:G111R;ENSP00000416463:G111R	ENSP00000293062:G111R	G	-	1	0	RASGRP4	43603434	0.696000	0.27757	0.328000	0.25416	0.360000	0.29518	1.135000	0.31454	0.951000	0.37770	0.563000	0.77884	GGG		0.587	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		13	47	0	0	0	1	0	13	47				
GEM	2669	broad.mit.edu	37	8	95265314	95265314	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:95265314C>T	ENST00000297596.2	-	3	622	c.358G>A	c.(358-360)Gtt>Att	p.V120I	GEM_ENST00000396194.2_Missense_Mutation_p.V120I	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	120					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCCCATCAACCATCAGGGTT	0.413																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	ENST00000297596.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(358-360)Gtt>Att		GTP binding protein overexpressed in skeletal muscle							171.0	150.0	157.0					8																	95265314		2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95265314C>T		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.358G>A	8.37:g.95265314C>T	ENSP00000297596:p.Val120Ile					GEM_ENST00000396194.2_Missense_Mutation_p.V120I	p.V120I	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		3	622	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	120					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.358G>A	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297806	0.95574	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	T;T	0.77358	-1.09;-1.09	5.35	5.35	0.76521	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83018	0.5163	L	0.38175	1.15	0.80722	D	1	P	0.40431	0.717	P	0.59703	0.862	T	0.80562	-0.1327	10	0.34782	T	0.22	.	19.1006	0.93272	0.0:1.0:0.0:0.0	.	120	P55040	GEM_HUMAN	I	120	ENSP00000379497:V120I;ENSP00000297596:V120I	ENSP00000297596:V120I	V	-	1	0	GEM	95334490	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.085000	0.76875	2.503000	0.84419	0.591000	0.81541	GTT		0.413	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		6	58	0	0	0	1	0	6	58				
CILP2	148113	broad.mit.edu	37	19	19655235	19655235	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19655235C>T	ENST00000291495.5	+	8	1966	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	CILP2_ENST00000586018.1_Silent_p.F633F	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	627						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCTGCGCTTCGTGGACAGCG	0.721																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1897-1899)ttC>ttT		cartilage intermediate layer protein 2							44.0	52.0	49.0					19																	19655235		2199	4288	6487	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655235C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1881C>T	19.37:g.19655235C>T						CILP2_ENST00000291495.4_Silent_p.F627F	p.F633F			Q8IUL8	CILP2_HUMAN			8	2001	+			627					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.1899C>T	CCDS12405.1																																																																																				0.721	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		6	104	0	0	0	1	0	6	104				
TTN	7273	broad.mit.edu	37	2	179629498	179629498	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179629498G>A	ENST00000591111.1	-	42	9968	c.9744C>T	c.(9742-9744)gtC>gtT	p.V3248V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V3202V|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Silent_p.V3248V|TTN_ENST00000460472.2_Silent_p.V3202V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.V3202V|TTN_ENST00000342992.6_Silent_p.V3248V|TTN_ENST00000360870.5_Silent_p.V3248V			Q8WZ42	TITIN_HUMAN	titin	13576	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCACAGTGACAGGCTGGA	0.512																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9742-9744)gtC>gtT		titin							66.0	70.0	68.0					2																	179629498		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629498G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9744C>T	2.37:g.179629498G>A						TTN_ENST00000591111.1_Silent_p.V3248V|TTN_ENST00000342175.6_Silent_p.V3202V|TTN_ENST00000360870.5_Silent_p.V3248V|TTN_ENST00000460472.2_Silent_p.V3202V|TTN_ENST00000359218.5_Silent_p.V3202V|TTN_ENST00000342992.6_Silent_p.V3248V|TTN-AS1_ENST00000585451.1_RNA	p.V3248V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		42	9968	-			2978			Ig-like 19.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.9744C>T																																																																																					0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	44	0	0	0	1	0	22	44				
AP4E1	23431	broad.mit.edu	37	15	51294799	51294799	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:51294799C>T	ENST00000261842.5	+	21	3460	c.3354C>T	c.(3352-3354)tcC>tcT	p.S1118S	AP4E1_ENST00000560508.1_Silent_p.S1043S|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1118					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCAGATCCTCCTGTTCTACTC	0.473																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(3352-3354)tcC>tcT		adaptor-related protein complex 4, epsilon 1 subunit							295.0	228.0	251.0					15																	51294799		2196	4294	6490	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51294799C>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3354C>T	15.37:g.51294799C>T						AP4E1_ENST00000560508.1_Silent_p.S1043S|AP4E1_ENST00000561397.1_3'UTR	p.S1118S	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	21	3460	+			1118					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.3354C>T	CCDS32240.1																																																																																				0.473	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			36	83	0	0	0	1	0	36	83				
SGCE	8910	broad.mit.edu	37	7	94230127	94230127	+	Missense_Mutation	SNP	G	G	A	rs576417569		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:94230127G>A	ENST00000265735.7	-	7	978	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	SGCE_ENST00000415788.2_Missense_Mutation_p.R326C|SGCE_ENST00000437425.2_Missense_Mutation_p.R249C|SGCE_ENST00000445866.2_Missense_Mutation_p.R290C|SGCE_ENST00000447873.1_Missense_Mutation_p.R290C|SGCE_ENST00000428696.2_Missense_Mutation_p.R290C	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	290	Cys-rich.				cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCTCTCCACGAATCACTTCC	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		17803	0.0		0.0	False		,,,				2504	0.001					ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(976-978)Cgt>Tgt		sarcoglycan, epsilon							63.0	58.0	60.0					7																	94230127		2203	4300	6503	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94230127G>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.868C>T	7.37:g.94230127G>A	ENSP00000265735:p.Arg290Cys					SGCE_ENST00000428696.2_Missense_Mutation_p.R290C|SGCE_ENST00000445866.2_Missense_Mutation_p.R290C|SGCE_ENST00000437425.2_Missense_Mutation_p.R249C|SGCE_ENST00000265735.7_Missense_Mutation_p.R290C|SGCE_ENST00000447873.1_Missense_Mutation_p.R290C	p.R326C			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	1063	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		290			Cys-rich.		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.976C>T	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005936	0.35415	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	4.79	4.79	0.61399	.	0.112180	0.64402	D	0.000007	D	0.94614	0.8264	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.23185	0.081;0.002;0.003;0.023;0.002;0.001	B;B;B;B;B;B	0.16722	0.016;0.002;0.007;0.005;0.003;0.002	D	0.91639	0.5325	10	0.38643	T	0.18	-30.1061	18.7165	0.91678	0.0:0.0:1.0:0.0	.	326;249;290;290;290;290	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	C	290;290;249;290;290;326	ENSP00000265735:R290C;ENSP00000398930:R290C;ENSP00000394061:R249C;ENSP00000388734:R290C;ENSP00000397536:R290C;ENSP00000405313:R326C	ENSP00000265735:R290C	R	-	1	0	SGCE	94068063	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.416000	0.73332	2.591000	0.87537	0.467000	0.42956	CGT		0.373	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			17	57	0	0	0	1	0	17	57				
PPP1R16B	26051	broad.mit.edu	37	20	37464810	37464810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:37464810C>T	ENST00000299824.1	+	2	431	c.242C>T	c.(241-243)gCc>gTc	p.A81V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A81V|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	81					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGGAACGACGCCGAGGAAGGT	0.642																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(241-243)gCc>gTc		protein phosphatase 1, regulatory subunit 16B							26.0	28.0	27.0					20																	37464810		2185	4285	6470	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37464810C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.242C>T	20.37:g.37464810C>T	ENSP00000299824:p.Ala81Val					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A81V|PPP1R16B_ENST00000468265.1_3'UTR	p.A81V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			2	431	+		Myeloproliferative disorder(115;0.00878)	81					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.242C>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.52|13.52	2.261279|2.261279	0.39995|0.39995	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.63255|.	-0.03;-0.03|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Ankyrin repeat-containing domain (4);|.	0.132808|.	0.49305|.	D|.	0.000145|.	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.04787|0.04787	-0.16|-0.16	0.27689|0.27689	N|N	0.94618|0.94618	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.15052|.	0.012;0.012|.	T|T	0.13575|0.13575	-1.0504|-1.0504	10|5	0.17832|.	T|.	0.49|.	.|.	9.8024|9.8024	0.40773|0.40773	0.0:0.8715:0.0:0.1285|0.0:0.8715:0.0:0.1285	.|.	81;81|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	V|S	81|24	ENSP00000299824:A81V;ENSP00000362428:A81V|.	ENSP00000299824:A81V|.	A|P	+|+	2|1	0|0	PPP1R16B|PPP1R16B	36898224|36898224	0.008000|0.008000	0.16893|0.16893	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	2.237000|2.237000	0.43061|0.43061	2.357000|2.357000	0.79964|0.79964	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.642	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		9	28	0	0	0	1	0	9	28				
PPP1R12A	4659	broad.mit.edu	37	12	80214584	80214584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:80214584C>T	ENST00000450142.2	-	8	1350	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E362K|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E362K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E275K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E362K|RP11-530C5.2_ENST00000548469.1_RNA	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	362					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAGTCATCTTCCTCATCTTCT	0.368																																						ENST00000450142.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(1084-1086)Gaa>Aaa		protein phosphatase 1, regulatory subunit 12A							203.0	198.0	200.0					12																	80214584		1904	4104	6008	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80214584C>T	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1084G>A	12.37:g.80214584C>T	ENSP00000389168:p.Glu362Lys					PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E362K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E275K|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E362K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E362K	p.E362K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN			8	1350	-			362					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.1084G>A	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407606	0.83340	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	T;T;T;T;T;T;T	0.57752	0.95;0.95;0.97;1.03;0.94;0.85;0.38	5.84	5.84	0.93424	.	0.101417	0.64402	D	0.000002	T	0.52789	0.1756	M	0.64404	1.975	0.80722	D	1	B;P;B;P	0.42692	0.241;0.787;0.447;0.682	B;B;B;B	0.37601	0.075;0.254;0.075;0.129	T	0.52983	-0.8502	10	0.33940	T	0.23	.	20.1392	0.98050	0.0:1.0:0.0:0.0	.	362;362;362;362	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	K	362;362;362;362;362;362;362;275;362;362;57	ENSP00000261207:E362K;ENSP00000389168:E362K;ENSP00000416769:E362K;ENSP00000449514:E275K;ENSP00000446855:E362K;ENSP00000446816:E362K;ENSP00000450061:E57K	ENSP00000261207:E362K	E	-	1	0	PPP1R12A	78738715	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.247000	0.78257	2.751000	0.94390	0.591000	0.81541	GAA		0.368	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		26	46	0	0	0	1	0	26	46				
LRTM1	57408	broad.mit.edu	37	3	54958747	54958747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:54958747G>A	ENST00000273286.5	-	2	665	c.503C>T	c.(502-504)tCc>tTc	p.S168F	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S92F|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	168						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ACTGGGCATGGATTCCAGGAG	0.478																																						ENST00000273286.5																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21						c.(502-504)tCc>tTc		leucine-rich repeats and transmembrane domains 1							97.0	100.0	99.0					3																	54958747		2203	4300	6503	SO:0001583	missense	57408					integral to membrane		g.chr3:54958747G>A	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.503C>T	3.37:g.54958747G>A	ENSP00000273286:p.Ser168Phe					CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S92F|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron	p.S168F	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	2	665	-			168					Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	c.503C>T	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784283	0.49997	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.44083	4.22;0.93	5.96	4.14	0.48551	.	0.221335	0.48286	D	0.000198	T	0.39279	0.1072	L	0.55017	1.72	0.38720	D	0.953415	B	0.22003	0.063	B	0.25759	0.063	T	0.28776	-1.0033	10	0.42905	T	0.14	.	11.6456	0.51259	0.0667:0.125:0.8084:0.0	.	168	Q9HBL6	LRTM1_HUMAN	F	168;92	ENSP00000273286:S168F;ENSP00000419772:S92F	ENSP00000273286:S168F	S	-	2	0	LRTM1	54933787	1.000000	0.71417	0.904000	0.35570	0.206000	0.24218	7.368000	0.79567	0.825000	0.34637	0.655000	0.94253	TCC		0.478	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		39	64	0	0	0	1	0	39	64				
MYOM1	8736	broad.mit.edu	37	18	3189003	3189003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:3189003G>A	ENST00000356443.4	-	4	847	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	MYOM1_ENST00000261606.7_Missense_Mutation_p.L172F|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.L172F	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	172					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCACTAGCAAGAAGATTCCTC	0.453																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(514-516)Ctt>Ttt		myomesin 1							264.0	241.0	248.0					18																	3189003		1939	4137	6076	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3189003G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.514C>T	18.37:g.3189003G>A	ENSP00000348821:p.Leu172Phe					MYOM1_ENST00000261606.7_Missense_Mutation_p.L172F|MYOM1_ENST00000356443.4_Missense_Mutation_p.L172F	p.L172F			P52179	MYOM1_HUMAN			4	847	-			172					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.514C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	9.465	1.094036	0.20471	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.45668	1.08;1.09;0.89	5.74	3.87	0.44632	.	0.222920	0.40908	D	0.000994	T	0.13756	0.0333	N	0.02539	-0.55	0.36730	D	0.881657	B;B	0.16166	0.012;0.016	B;B	0.17979	0.02;0.006	T	0.26608	-1.0098	10	0.14252	T	0.57	.	3.0807	0.06261	0.2239:0.0:0.5466:0.2295	.	172;172	P52179-2;P52179	.;MYOM1_HUMAN	F	172	ENSP00000348821:L172F;ENSP00000383413:L172F;ENSP00000261606:L172F	ENSP00000261606:L172F	L	-	1	0	MYOM1	3179003	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.663000	0.46774	2.700000	0.92200	0.603000	0.83216	CTT		0.453	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		9	102	0	0	0	1	0	9	102				
RSBN1	54665	broad.mit.edu	37	1	114354999	114354999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114354999C>T	ENST00000261441.5	-	1	99	c.36G>A	c.(34-36)tgG>tgA	p.W12*	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	12						nucleus (GO:0005634)		p.W12C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCCGCCCTCCACTTGTCGG	0.627																																						ENST00000261441.5																			1	Substitution - Missense(1)	p.W12C(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(34-36)tgG>tgA		round spermatid basic protein 1							10.0	14.0	13.0					1																	114354999		2137	4195	6332	SO:0001587	stop_gained	54665					nucleus		g.chr1:114354999C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.36G>A	1.37:g.114354999C>T	ENSP00000261441:p.Trp12*						p.W12*	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	99	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	12					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Nonsense_Mutation	SNP	ENST00000261441.5	37	c.36G>A	CCDS862.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416341	0.62511	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.64	3.74	0.42951	.	0.310063	0.23906	N	0.043394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.405	9.3462	0.38109	0.1636:0.679:0.1574:0.0	.	.	.	.	X	12	.	ENSP00000261441:W12X	W	-	3	0	RSBN1	114156522	0.458000	0.25760	0.977000	0.42913	0.063000	0.16089	0.944000	0.29043	0.715000	0.32103	-0.300000	0.09419	TGG		0.627	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		11	21	0	0	0	1	0	11	21				
PTK7	5754	broad.mit.edu	37	6	43106920	43106920	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43106920G>A	ENST00000230419.4	+	9	1630	c.1409G>A	c.(1408-1410)aGc>aAc	p.S470N	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Missense_Mutation_p.S470N|PTK7_ENST00000481273.1_Missense_Mutation_p.S478N|PTK7_ENST00000345201.2_Missense_Mutation_p.S470N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	470	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGCATCAACAGCGTGGAGGTG	0.607																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1408-1410)aGc>aAc		protein tyrosine kinase 7							96.0	67.0	77.0					6																	43106920		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43106920G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1409G>A	6.37:g.43106920G>A	ENSP00000230419:p.Ser470Asn					PTK7_ENST00000345201.2_Missense_Mutation_p.S470N|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Missense_Mutation_p.S470N|PTK7_ENST00000481273.1_Missense_Mutation_p.S478N	p.S470N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		9	1630	+			470			Ig-like C2-type 5.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.1409G>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	A	0.086	-1.175297	0.01646	.	.	ENSG00000112655	ENST00000230419;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000481946	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.2	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.137307	0.64402	N	0.000004	T	0.03305	0.0096	N	0.02665	-0.54	0.20873	N	0.999832	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.15870	0.012;0.003;0.004;0.014	T	0.46359	-0.9197	10	0.02654	T	1	.	10.1248	0.42643	0.3488:0.0:0.6512:0.0	.	478;470;470;470	E9PFZ5;Q13308-2;Q13308-4;Q13308	.;.;.;PTK7_HUMAN	N	470;470;470;478;249	ENSP00000230419:S470N;ENSP00000326029:S470N;ENSP00000325992:S470N;ENSP00000418754:S478N;ENSP00000420165:S249N	ENSP00000230418:S470N	S	+	2	0	PTK7	43214898	0.057000	0.20700	0.945000	0.38365	0.192000	0.23643	0.516000	0.22817	0.573000	0.29400	-1.305000	0.01319	AGC		0.607	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			6	28	0	0	0	1	0	6	28				
OR4C3	256144	broad.mit.edu	37	11	48347262	48347262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:48347262G>A	ENST00000319856.4	+	1	791	c.770G>A	c.(769-771)gGg>gAg	p.G257E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AGTGCAGATGGGAGATGCAAA	0.473																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(769-771)gGg>gAg		olfactory receptor, family 4, subfamily C, member 3							261.0	208.0	226.0					11																	48347262		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347262G>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.770G>A	11.37:g.48347262G>A	ENSP00000321419:p.Gly257Glu						p.G257E	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	791	+			230					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.770G>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963443	0.34659	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00287	8.29	5.88	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.120209	0.37906	N	0.001881	T	0.00412	0.0013	M	0.87758	2.905	0.29420	N	0.860641	B	0.28552	0.215	B	0.37550	0.253	T	0.01312	-1.1388	10	0.66056	D	0.02	.	10.105	0.42528	0.0:0.2804:0.5744:0.1452	.	230	Q8NH37	OR4C3_HUMAN	E	257;120	ENSP00000321419:G257E	ENSP00000321419:G257E	G	+	2	0	OR4C3	48303838	0.236000	0.23804	0.944000	0.38274	0.535000	0.34838	1.734000	0.38166	0.843000	0.35070	-0.303000	0.09236	GGG		0.473	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		6	89	0	0	0	1	0	6	89				
SLC25A38	54977	broad.mit.edu	37	3	39437925	39437925	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:39437925C>T	ENST00000273158.4	+	7	1206	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGTGGCATCCCCCGAGCCCT	0.488																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(829-831)Ccc>Tcc		solute carrier family 25, member 38							169.0	174.0	172.0					3																	39437925		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39437925C>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.829C>T	3.37:g.39437925C>T	ENSP00000273158:p.Pro277Ser						p.P277S	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	7	1206	+			277						Missense_Mutation	SNP	ENST00000273158.4	37	c.829C>T	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	c	33	5.254896	0.95336	.	.	ENSG00000144659	ENST00000273158	D	0.81996	-1.56	5.85	5.85	0.93711	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92883	0.7736	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93640	0.6964	10	0.72032	D	0.01	-30.2158	17.6572	0.88181	0.0:1.0:0.0:0.0	.	277	Q96DW6	S2538_HUMAN	S	277	ENSP00000273158:P277S	ENSP00000273158:P277S	P	+	1	0	SLC25A38	39412929	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.561000	0.82288	2.773000	0.95371	0.655000	0.94253	CCC		0.488	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		71	145	0	0	0	1	0	71	145				
RGS22	26166	broad.mit.edu	37	8	101020642	101020642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:101020642C>T	ENST00000360863.6	-	15	2516	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	RGS22_ENST00000523287.1_Nonsense_Mutation_p.W593*|RGS22_ENST00000523437.1_Nonsense_Mutation_p.W762*|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	774					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCATCTTTGTCCATGGCTCAA	0.378																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2320-2322)tgG>tgA		regulator of G-protein signaling 22							156.0	148.0	150.0					8																	101020642		1873	4098	5971	SO:0001587	stop_gained	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101020642C>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2322G>A	8.37:g.101020642C>T	ENSP00000354109:p.Trp774*					RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Nonsense_Mutation_p.W762*|RGS22_ENST00000523287.1_Nonsense_Mutation_p.W593*	p.W774*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		15	2516	-			774					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Nonsense_Mutation	SNP	ENST00000360863.6	37	c.2322G>A	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	44	10.923841	0.99489	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	774;762;593;762;89	.	ENSP00000354109:W774X	W	-	3	0	RGS22	101089818	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	4.538000	0.60650	2.788000	0.95919	0.650000	0.86243	TGG		0.378	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		42	66	0	0	0	1	0	42	66				
MYH6	4624	broad.mit.edu	37	14	23863431	23863431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:23863431C>T	ENST00000356287.3	-	20	2560	c.2531G>A	c.(2530-2532)aGc>aAc	p.S844N	MYH6_ENST00000405093.3_Missense_Mutation_p.S844N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	844					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)			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)		CGTCTCTGCGCTCTTCAGCAG	0.572																																						ENST00000405093.3																			0				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						c.(2530-2532)aGc>aAc		myosin, heavy chain 6, cardiac muscle, alpha							115.0	105.0	109.0					14																	23863431		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23863431C>T	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.2531G>A	14.37:g.23863431C>T	ENSP00000348634:p.Ser844Asn					MYH6_ENST00000356287.3_Missense_Mutation_p.S844N	p.S844N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	21	2601	-	all_cancers(95;2.54e-05)		844					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2531G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	16.34	3.094696	0.56075	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.93859	-3.3;-3.3	4.57	4.57	0.56435	.	.	.	.	.	D	0.95424	0.8514	M	0.93375	3.41	0.41668	D	0.989223	P	0.36944	0.574	B	0.41946	0.371	D	0.96422	0.9312	9	0.66056	D	0.02	.	13.4947	0.61419	0.0:0.8433:0.1567:0.0	.	844	P13533	MYH6_HUMAN	N	844	ENSP00000386041:S844N;ENSP00000348634:S844N	ENSP00000348634:S844N	S	-	2	0	MYH6	22933271	0.944000	0.32072	0.997000	0.53966	0.971000	0.66376	1.610000	0.36869	2.274000	0.75844	0.555000	0.69702	AGC		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			4	104	0	0	0	1	0	4	104				
MBD5	55777	broad.mit.edu	37	2	149227278	149227278	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:149227278C>T	ENST00000407073.1	+	9	2763	c.1766C>T	c.(1765-1767)gCa>gTa	p.A589V	MBD5_ENST00000404807.1_Missense_Mutation_p.A589V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	589					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)			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)		GCACAGCTAGCAAATCAAAAC	0.468																																						ENST00000407073.1																			0				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						c.(1765-1767)gCa>gTa		methyl-CpG binding domain protein 5							115.0	108.0	110.0					2																	149227278		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227278C>T	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.1766C>T	2.37:g.149227278C>T	ENSP00000386049:p.Ala589Val					MBD5_ENST00000404807.1_Missense_Mutation_p.A589V	p.A589V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2763	+			589					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.1766C>T	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.541794|3.541794	0.65198|0.65198	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.62364|.	0.07;0.03|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.56097|.	D|.	0.000029|.	T|.	0.57403|.	0.2051|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.83275|.	0.994;0.996|.	T|.	0.52786|.	-0.8529|.	10|.	0.72032|.	D|.	0.01|.	-5.7784|-5.7784	18.1157|18.1157	0.89553|0.89553	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	589;589|.	Q9P267-2;Q9P267|.	.;MBD5_HUMAN|.	V|X	589|329	ENSP00000386049:A589V;ENSP00000384672:A589V|.	ENSP00000384672:A589V|.	A|Q	+|+	2|1	0|0	MBD5|MBD5	148943748|148943748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.271000|7.271000	0.78506|0.78506	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.468	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			5	160	0	0	0	1	0	5	160				
PAXBP1	94104	broad.mit.edu	37	21	34113846	34113846	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:34113846C>T	ENST00000331923.4	-	15	2524				PAXBP1_ENST00000290178.4_Missense_Mutation_p.D808N|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1						muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										caaggcctgtccgtccagatt	0.443																																						ENST00000290178.4																			0											c.(2422-2424)Gac>Aac		PAX3 and PAX7 binding protein 1							108.0	87.0	95.0					21																	34113846		2203	4300	6503	SO:0001627	intron_variant	94104							g.chr21:34113846C>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2334+1712G>A	21.37:g.34113846C>T						PAXBP1_ENST00000331923.4_Intron|PAXBP1-AS1_ENST00000440052.1_RNA	p.D808N	NM_013329.3	NP_037461.2					16	2421	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.2422G>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	8.807	0.934317	0.18206	.	.	ENSG00000159086	ENST00000290178	T	0.33654	1.4	0.235	0.235	0.15431	.	.	.	.	.	T	0.43942	0.1270	.	.	.	0.09310	N	1	P	0.46395	0.877	P	0.53518	0.728	T	0.31558	-0.9939	7	0.87932	D	0	.	.	.	.	.	808	Q9Y5B6-2	.	N	808	ENSP00000290178:D808N	ENSP00000290178:D808N	D	-	1	0	GCFC1	33035717	0.138000	0.22547	0.023000	0.16930	0.024000	0.10985	0.290000	0.18975	0.308000	0.22923	0.313000	0.20887	GAC		0.443	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		5	25	0	0	0	1	0	5	25				
C17orf80	55028	broad.mit.edu	37	17	71231666	71231666	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:71231666G>A	ENST00000535032.2	+	2	158	c.45G>A	c.(43-45)aaG>aaA	p.K15K	C17orf80_ENST00000255557.4_Silent_p.K15K|C17orf80_ENST00000577615.1_Silent_p.K15K|C17orf80_ENST00000268942.8_Silent_p.K15K|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Silent_p.K15K|C17orf80_ENST00000359042.2_Silent_p.K15K|C17orf80_ENST00000582793.1_Intron			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTACTGTAAGAAGCCATTTA	0.383																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(43-45)aaG>aaA		chromosome 17 open reading frame 80							74.0	59.0	64.0					17																	71231666		2203	4300	6503	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71231666G>A	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.45G>A	17.37:g.71231666G>A						C17orf80_ENST00000255557.4_Silent_p.K15K|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Silent_p.K15K|C17orf80_ENST00000535032.2_Silent_p.K15K|C17orf80_ENST00000426147.2_Silent_p.K15K|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Silent_p.K15K	p.K15K	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	239	+			15					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.45G>A	CCDS11694.1																																																																																				0.383	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		4	41	0	0	0	1	0	4	41				
RNF157	114804	broad.mit.edu	37	17	74155525	74155525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74155525G>A	ENST00000269391.6	-	12	1327	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	RNF157_ENST00000319945.6_Missense_Mutation_p.P399S	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	399							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCATATGAAGGGAGCATTCCT	0.587																																					GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(1195-1197)Cct>Tct		ring finger protein 157							78.0	73.0	75.0					17																	74155525		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74155525G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1195C>T	17.37:g.74155525G>A	ENSP00000269391:p.Pro399Ser					RNF157_ENST00000319945.6_Missense_Mutation_p.P399S	p.P399S	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		12	1327	-			399					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1195C>T	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973037	0.74246	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.26067	1.76;1.88	5.86	5.86	0.93980	.	0.049137	0.85682	D	0.000000	T	0.39809	0.1092	L	0.49126	1.545	0.80722	D	1	D;B	0.56746	0.977;0.397	P;B	0.53224	0.721;0.147	T	0.01508	-1.1337	10	0.35671	T	0.21	-14.8589	20.1642	0.98145	0.0:0.0:1.0:0.0	.	399;399	Q96PX1-2;Q96PX1	.;RN157_HUMAN	S	399	ENSP00000269391:P399S;ENSP00000321837:P399S	ENSP00000269391:P399S	P	-	1	0	RNF157	71667120	1.000000	0.71417	0.998000	0.56505	0.581000	0.36288	7.412000	0.80091	2.775000	0.95449	0.563000	0.77884	CCT		0.587	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		18	46	0	0	0	1	0	18	46				
PTPN13	5783	broad.mit.edu	37	4	87691111	87691111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:87691111C>T	ENST00000411767.2	+	29	4742	c.4679C>T	c.(4678-4680)gCc>gTc	p.A1560V	PTPN13_ENST00000436978.1_Missense_Mutation_p.A1565V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1565V|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1369V|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1541V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1560	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTGAATGGAGCCTCTTTGAAA	0.418																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4693-4695)gCc>gTc		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							153.0	150.0	151.0					4																	87691111		1923	4126	6049	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87691111C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4679C>T	4.37:g.87691111C>T	ENSP00000407249:p.Ala1560Val					PTPN13_ENST00000511467.1_Missense_Mutation_p.A1565V|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1369V|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1541V|PTPN13_ENST00000411767.2_Missense_Mutation_p.A1560V	p.A1565V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	29	5174	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1560			PDZ 3.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.4694C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241287	0.58995	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.74	4.81	0.61882	PDZ/DHR/GLGF (4);	0.000000	0.49916	D	0.000127	T	0.12050	0.0293	N	0.02315	-0.6	0.42193	D	0.991732	B;B;B;B	0.15473	0.006;0.001;0.013;0.005	B;B;B;B	0.17979	0.009;0.007;0.02;0.007	T	0.08638	-1.0712	10	0.31617	T	0.26	.	14.323	0.66499	0.0:0.9239:0.0:0.0761	.	1369;1541;1560;1565	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	V	1541;1565;1369;1560;1565;1509	ENSP00000408368:A1541V;ENSP00000394794:A1565V;ENSP00000322675:A1369V;ENSP00000407249:A1560V;ENSP00000426626:A1565V	ENSP00000322675:A1369V	A	+	2	0	PTPN13	87910135	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.501000	0.60393	1.271000	0.44313	0.655000	0.94253	GCC		0.418	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			5	113	0	0	0	1	0	5	113				
POU2F3	25833	broad.mit.edu	37	11	120188049	120188049	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:120188049C>T	ENST00000543440.2	+	12	1397	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	POU2F3_ENST00000260264.4_Missense_Mutation_p.S418F	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	416	Ser-rich.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCAGTGAACTCCGCCTCCAGT	0.562																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(1252-1254)tCc>tTc		POU class 2 homeobox 3							105.0	102.0	103.0					11																	120188049		2203	4299	6502	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120188049C>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.1247C>T	11.37:g.120188049C>T	ENSP00000441687:p.Ser416Phe					POU2F3_ENST00000543440.2_Missense_Mutation_p.S416F	p.S418F	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	12	1287	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	416			Ser-rich.		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.1253C>T	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414529	0.42817	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620;ENST00000532638	D;D;D;T	0.83506	-1.65;-1.65;-1.73;-1.43	3.34	3.34	0.38264	.	0.980175	0.08391	N	0.952900	T	0.70228	0.3200	N	0.14661	0.345	0.30950	N	0.724879	P;P	0.44090	0.826;0.651	B;B	0.37943	0.261;0.174	T	0.69632	-0.5093	10	0.72032	D	0.01	.	10.4565	0.44553	0.0:1.0:0.0:0.0	.	370;416	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	F	418;416;370;201	ENSP00000441687:S418F;ENSP00000260264:S416F;ENSP00000435738:S370F;ENSP00000436236:S201F	ENSP00000260264:S416F	S	+	2	0	POU2F3	119693259	0.984000	0.35163	0.984000	0.44739	0.922000	0.55478	2.603000	0.46266	2.154000	0.67381	0.655000	0.94253	TCC		0.562	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			26	57	0	0	0	1	0	26	57				
DBNL	28988	broad.mit.edu	37	7	44099002	44099002	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44099002C>T	ENST00000448521.1	+	10	983	c.885C>T	c.(883-885)acC>acT	p.T295T	DBNL_ENST00000456905.1_Silent_p.T247T|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000494774.1_Silent_p.T296T|DBNL_ENST00000452943.1_Silent_p.T271T|DBNL_ENST00000490734.2_Silent_p.T201T|DBNL_ENST00000468694.1_Silent_p.T304T|DBNL_ENST00000440166.1_Silent_p.T192T	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	295					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AACCAGAGACCCACTTTGGCA	0.597																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000494774.1																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(886-888)acC>acT		drebrin-like							41.0	43.0	42.0					7																	44099002		2203	4300	6503	SO:0001819	synonymous_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44099002C>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.885C>T	7.37:g.44099002C>T						DBNL_ENST00000456905.1_Silent_p.T247T|DBNL_ENST00000448521.1_Silent_p.T295T|DBNL_ENST00000452943.1_Silent_p.T271T|DBNL_ENST00000440166.1_Silent_p.T192T|DBNL_ENST00000468694.1_Silent_p.T304T|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Silent_p.T201T	p.T296T	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN			10	909	+			295					A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Silent	SNP	ENST00000448521.1	37	c.888C>T	CCDS34623.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167243	0.38315	.	.	ENSG00000136279	ENST00000432854	.	.	.	5.32	-1.92	0.07618	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27739	-1.0065	4	.	.	.	-4.5822	2.6908	0.05120	0.1144:0.3448:0.3367:0.2041	.	.	.	.	S	224	.	.	P	+	1	0	DBNL	44065527	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	-2.142000	0.01298	-0.052000	0.13311	0.558000	0.71614	CCA		0.597	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		12	41	0	0	0	1	0	12	41				
SPP1	6696	broad.mit.edu	37	4	88902713	88902713	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:88902713C>T	ENST00000395080.3	+	6	430	c.303C>T	c.(301-303)gaC>gaT	p.D101D	SPP1_ENST00000237623.7_Silent_p.D87D|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Silent_p.D74D	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	101					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ACAGCCAGGACTCCATTGACT	0.438																																						ENST00000237623.7																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13						c.(259-261)gaC>gaT		secreted phosphoprotein 1							304.0	280.0	288.0					4																	88902713		2203	4300	6503	SO:0001819	synonymous_variant	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88902713C>T		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.303C>T	4.37:g.88902713C>T						SPP1_ENST00000360804.4_Silent_p.D74D|SPP1_ENST00000395080.3_Silent_p.D101D|SPP1_ENST00000509659.1_3'UTR	p.D87D	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	5	409	+		Hepatocellular(203;0.114)	101					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Silent	SNP	ENST00000395080.3	37	c.261C>T	CCDS43250.1																																																																																				0.438	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			9	214	0	0	0	1	0	9	214				
FOXA1	3169	broad.mit.edu	37	14	38060587	38060587	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:38060587C>A	ENST00000250448.2	-	2	1463	c.1402G>T	c.(1402-1404)Gtc>Ttc	p.V468F	FOXA1_ENST00000540786.1_Missense_Mutation_p.V435F|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	468					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTGTTTAGGACGGGTCTGGAA	0.577																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1402-1404)Gtc>Ttc		forkhead box A1							45.0	51.0	49.0					14																	38060587		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060587C>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1402G>T	14.37:g.38060587C>A	ENSP00000250448:p.Val468Phe					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.V435F	p.V468F	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1463	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		468					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.1402G>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328346	0.60743	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.93906	-3.31;-3.31	4.13	4.13	0.48395	.	0.074826	0.52532	D	0.000076	D	0.94430	0.8208	L	0.53249	1.67	0.49130	D	0.999753	D	0.60575	0.988	P	0.57244	0.816	D	0.95123	0.8248	10	0.87932	D	0	.	15.3049	0.73985	0.0:1.0:0.0:0.0	.	468	P55317	FOXA1_HUMAN	F	468;435	ENSP00000250448:V468F;ENSP00000440178:V435F	ENSP00000250448:V468F	V	-	1	0	FOXA1	37130338	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	3.166000	0.50785	2.128000	0.65567	0.400000	0.26472	GTC		0.577	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			15	42	1	0	0.000219431	1	0.000219831	15	42				
KNG1	3827	broad.mit.edu	37	3	186442948	186442948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:186442948G>A	ENST00000265023.4	+	4	675	c.463G>A	c.(463-465)Gac>Aac	p.D155N	KNG1_ENST00000287611.2_Missense_Mutation_p.D155N|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.D155N	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	155	Cystatin kininogen-type 2. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GCAGAGCCCAGACCTGGAGCC	0.502																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(463-465)Gac>Aac		kininogen 1	Ouabain(DB01092)						111.0	98.0	103.0					3																	186442948		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186442948G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.463G>A	3.37:g.186442948G>A	ENSP00000265023:p.Asp155Asn					RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.D155N|KNG1_ENST00000447445.1_Missense_Mutation_p.D155N	p.D155N	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	4	675	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		155			Cystatin 2.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.463G>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113161	0.77210	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.27890	1.64;1.64;1.64	4.92	4.92	0.64577	Proteinase inhibitor I25, cystatin (2);	0.581787	0.17603	N	0.168354	T	0.56804	0.2010	M	0.80183	2.485	0.23138	N	0.998235	D;D	0.63046	0.992;0.973	D;P	0.70016	0.967;0.888	T	0.50849	-0.8779	10	0.54805	T	0.06	-3.5545	14.3513	0.66705	0.0:0.0:1.0:0.0	.	155;155	P01042;P01042-2	KNG1_HUMAN;.	N	155;155;155;143	ENSP00000287611:D155N;ENSP00000265023:D155N;ENSP00000396025:D155N	ENSP00000265023:D155N	D	+	1	0	KNG1	187925642	0.187000	0.23238	0.077000	0.20336	0.009000	0.06853	1.665000	0.37449	2.661000	0.90470	0.561000	0.74099	GAC		0.502	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		4	94	0	0	0	1	0	4	94				
FKBP9	11328	broad.mit.edu	37	7	33044928	33044928	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:33044928C>T	ENST00000242209.4	+	10	1847	c.1678C>T	c.(1678-1680)Ctc>Ttc	p.L560F	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.L422F|FKBP9_ENST00000490776.2_Missense_Mutation_p.L328F|FKBP9_ENST00000538336.1_Missense_Mutation_p.L613F	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	560	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGAATTTAAACTCAAAGACCA	0.507																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1678-1680)Ctc>Ttc		FK506 binding protein 9, 63 kDa							198.0	142.0	161.0					7																	33044928		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33044928C>T	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1678C>T	7.37:g.33044928C>T	ENSP00000242209:p.Leu560Phe					FKBP9_ENST00000538336.1_Missense_Mutation_p.L613F|FKBP9_ENST00000538443.1_Missense_Mutation_p.L422F|FKBP9_ENST00000490776.2_Missense_Mutation_p.L328F|AVL9_ENST00000404479.1_Intron	p.L560F	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		10	1847	+			560			EF-hand 2.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.1678C>T	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718734	0.68844	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.49432	0.8;0.78;0.84;2.21	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.992	T	0.65981	-0.6036	10	0.87932	D	0	-9.9895	10.1771	0.42946	0.0:0.8457:0.0:0.1543	.	328;613;560	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	F	560;613;422;328	ENSP00000242209:L560F;ENSP00000439250:L613F;ENSP00000437504:L422F;ENSP00000441317:L328F	ENSP00000242209:L560F	L	+	1	0	FKBP9	33011453	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	3.282000	0.51693	2.371000	0.80710	0.555000	0.69702	CTC		0.507	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		17	66	0	0	0	1	0	17	66				
ZNF426	79088	broad.mit.edu	37	19	9639368	9639368	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9639368C>T	ENST00000535489.1	-	6	1689	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K	ZNF426_ENST00000593003.1_Silent_p.K413K|ZNF426_ENST00000253115.2_Silent_p.K451K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCCCACATTCCTTACAGGTGT	0.433																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1237-1239)aaG>aaA		zinc finger protein 426							123.0	111.0	115.0					19																	9639368		2203	4300	6503	SO:0001819	synonymous_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639368C>T	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1353G>A	19.37:g.9639368C>T						ZNF426_ENST00000535489.1_Silent_p.K451K|ZNF426_ENST00000253115.2_Silent_p.K451K	p.K413K			Q9BUY5	ZN426_HUMAN			6	1716	-			451					B3KTL2	Silent	SNP	ENST00000535489.1	37	c.1239G>A	CCDS12215.1																																																																																				0.433	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		33	75	0	0	0	1	0	33	75				
PDE8A	5151	broad.mit.edu	37	15	85669550	85669550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85669550C>T	ENST00000310298.4	+	21	2450	c.2198C>T	c.(2197-2199)cCc>cTc	p.P733L	PDE8A_ENST00000394553.1_Missense_Mutation_p.P733L|PDE8A_ENST00000339708.5_Missense_Mutation_p.P687L|PDE8A_ENST00000557957.1_Missense_Mutation_p.P661L			O60658	PDE8A_HUMAN	phosphodiesterase 8A	733	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CCCTGCCGACCCCTGCAGTAC	0.453																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(2197-2199)cCc>cTc		phosphodiesterase 8A							104.0	98.0	100.0					15																	85669550		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85669550C>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2198C>T	15.37:g.85669550C>T	ENSP00000311453:p.Pro733Leu					PDE8A_ENST00000339708.5_Missense_Mutation_p.P687L|PDE8A_ENST00000557957.1_Missense_Mutation_p.P661L|PDE8A_ENST00000394553.1_Missense_Mutation_p.P733L	p.P733L			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		21	2450	+	Colorectal(223;0.227)		733			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.2198C>T	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145955	0.77888	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.80909	-1.43;-1.43;-1.43	5.27	5.27	0.74061	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.240940	0.42821	D	0.000659	D	0.90679	0.7076	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.946	D	0.91912	0.5540	10	0.87932	D	0	.	16.4992	0.84253	0.0:1.0:0.0:0.0	.	687;733	O60658-2;O60658	.;PDE8A_HUMAN	L	733;733;687	ENSP00000311453:P733L;ENSP00000378056:P733L;ENSP00000340679:P687L	ENSP00000311453:P733L	P	+	2	0	PDE8A	83470554	1.000000	0.71417	0.013000	0.15412	0.491000	0.33493	7.352000	0.79404	2.751000	0.94390	0.644000	0.83932	CCC		0.453	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		26	64	0	0	0	1	0	26	64				
F5	2153	broad.mit.edu	37	1	169499028	169499028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:169499028C>T	ENST00000367797.3	-	16	5438	c.5237G>A	c.(5236-5238)gGt>gAt	p.G1746D	F5_ENST00000367796.3_Missense_Mutation_p.G1751D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1746	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TAGGAGGGGACCTATCAAGCC	0.373																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5251-5253)gGt>gAt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						132.0	129.0	130.0					1																	169499028		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169499028C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5237G>A	1.37:g.169499028C>T	ENSP00000356771:p.Gly1746Asp					F5_ENST00000367797.3_Missense_Mutation_p.G1746D	p.G1751D			P12259	FA5_HUMAN			16	5453	-	all_hematologic(923;0.208)		1746			F5/8 type A 3.|Plastocyanin-like 5.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.5252G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792144	0.90453	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99479	-5.98;-5.98	5.5	5.5	0.81552	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.96916	3.905	0.45216	D	0.998222	D	0.89917	1.0	D	0.97110	1.0	D	0.97180	0.9850	9	0.87932	D	0	-18.5234	19.3971	0.94611	0.0:1.0:0.0:0.0	.	1746	P12259	FA5_HUMAN	D	1746;1751	ENSP00000356771:G1746D;ENSP00000356770:G1751D	ENSP00000356770:G1751D	G	-	2	0	F5	167765652	1.000000	0.71417	0.961000	0.40146	0.923000	0.55619	7.274000	0.78538	2.584000	0.87258	0.557000	0.71058	GGT		0.373	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		27	104	0	0	0	1	0	27	104				
ZNF791	163049	broad.mit.edu	37	19	12738894	12738894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12738894G>A	ENST00000343325.4	+	4	713	c.551G>A	c.(550-552)gGa>gAa	p.G184E	ZNF791_ENST00000458122.3_Missense_Mutation_p.G152E|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.G75E|AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACTCACATTGGAGAAAAACCC	0.403																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(550-552)gGa>gAa		zinc finger protein 791							57.0	59.0	58.0					19																	12738894		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738894G>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.551G>A	19.37:g.12738894G>A	ENSP00000342974:p.Gly184Glu					ZNF791_ENST00000540038.1_Missense_Mutation_p.G75E|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.G152E|ZNF791_ENST00000446165.1_3'UTR	p.G184E	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	713	+			184					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.551G>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734106	0.48939	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.25749	1.78;1.78;1.78	1.83	1.83	0.25207	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41003	0.1140	L	0.60957	1.885	0.33983	D	0.648254	D	0.89917	1.0	D	0.97110	1.0	T	0.52704	-0.8540	9	0.66056	D	0.02	.	6.1852	0.20493	0.0:0.3219:0.6781:0.0	.	184	Q3KP31	ZN791_HUMAN	E	184;166;152;75	ENSP00000342974:G184E;ENSP00000441761:G152E;ENSP00000441038:G75E	ENSP00000342974:G184E	G	+	2	0	ZNF791	12599894	0.720000	0.27996	0.893000	0.35052	0.948000	0.59901	1.046000	0.30354	1.007000	0.39238	0.491000	0.48974	GGA		0.403	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		26	54	0	0	0	1	0	26	54				
VDR	7421	broad.mit.edu	37	12	48272874	48272874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:48272874G>A	ENST00000395324.2	-	3	291	c.23C>T	c.(22-24)aCt>aTt	p.T8I	VDR_ENST00000535672.1_5'UTR|VDR_ENST00000550325.1_Missense_Mutation_p.T58I|VDR_ENST00000229022.3_Missense_Mutation_p.T8I|VDR_ENST00000549336.1_Missense_Mutation_p.T8I			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	8					bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.T8I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGGCAGGGAAGTGCTGGCCGC	0.607																																						ENST00000229022.3																			1	Substitution - Missense(1)	p.T8I(1)	lung(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(22-24)aCt>aTt		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						94.0	78.0	84.0					12																	48272874		2203	4300	6503	SO:0001583	missense	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48272874G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.23C>T	12.37:g.48272874G>A	ENSP00000378734:p.Thr8Ile					VDR_ENST00000535672.1_5'UTR|VDR_ENST00000395324.2_Missense_Mutation_p.T8I|VDR_ENST00000549336.1_Missense_Mutation_p.T8I|VDR_ENST00000550325.1_Missense_Mutation_p.T58I	p.T8I	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	4	304	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	8					B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.23C>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347767	0.61183	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D	0.94280	-3.26;-3.26;-3.26;-3.32;-2.85;-3.39;-3.24	5.58	4.69	0.59074	.	0.616955	0.16325	N	0.219395	D	0.95023	0.8389	M	0.63843	1.955	0.42019	D	0.990972	B;D	0.63880	0.415;0.993	B;P	0.59221	0.147;0.854	D	0.94473	0.7686	10	0.59425	D	0.04	.	13.3629	0.60667	0.0765:0.0:0.9235:0.0	.	8;58	P11473;G3V1V9	VDR_HUMAN;.	I	8;8;8;58;8;8;8	ENSP00000378734:T8I;ENSP00000229022:T8I;ENSP00000449573:T8I;ENSP00000447173:T58I;ENSP00000448659:T8I;ENSP00000449561:T8I;ENSP00000450105:T8I	ENSP00000229022:T8I	T	-	2	0	VDR	46559141	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	9.568000	0.98166	1.363000	0.46019	-0.150000	0.13652	ACT		0.607	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			23	31	0	0	0	1	0	23	31				
FGD2	221472	broad.mit.edu	37	6	36979535	36979535	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36979535G>A	ENST00000274963.8	+	4	603	c.432G>A	c.(430-432)gaG>gaA	p.E144E		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	144	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCTTCCCAGAGGATGTGGTCA	0.582																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(430-432)gaG>gaA		FYVE, RhoGEF and PH domain containing 2							148.0	115.0	126.0					6																	36979535		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36979535G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.432G>A	6.37:g.36979535G>A							p.E144E	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			4	603	+			144			DH.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.432G>A	CCDS4829.1																																																																																				0.582	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		23	45	0	0	0	1	0	23	45				
CHRDL2	25884	broad.mit.edu	37	11	74415674	74415674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:74415674C>T	ENST00000376332.3	-	7	1104	c.608G>A	c.(607-609)aGt>aAt	p.S203N	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.S203N	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	203					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCCAGCATCACTGGAACATGG	0.602																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(607-609)aGt>aAt		chordin-like 2							32.0	34.0	34.0					11																	74415674		2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74415674C>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.608G>A	11.37:g.74415674C>T	ENSP00000365510:p.Ser203Asn					CHRDL2_ENST00000263671.5_Missense_Mutation_p.S203N|CHRDL2_ENST00000534159.1_5'UTR	p.S203N	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			7	1104	-	Hepatocellular(1;0.098)		203					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.608G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.34|12.34	1.907732|1.907732	0.33721|0.33721	.|.	.|.	ENSG00000054938|ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789|ENST00000525413	T;T;T|.	0.63255|.	0.9;0.94;-0.03|.	5.27|5.27	4.35|4.35	0.52113|0.52113	.|.	0.566050|.	0.17485|.	N|.	0.172552|.	T|T	0.44371|0.44371	0.1290|0.1290	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B|.	0.26902|.	0.004;0.031;0.163|.	B;B;B|.	0.23574|.	0.007;0.021;0.047|.	T|T	0.28776|0.28776	-1.0033|-1.0033	10|5	0.16420|.	T|.	0.52|.	-1.9068|-1.9068	10.8375|10.8375	0.46696|0.46696	0.0:0.9056:0.0:0.0944|0.0:0.9056:0.0:0.0944	.|.	203;203;203|.	E9PCG7;Q6WN34;Q6WN34-2|.	.;CRDL2_HUMAN;.|.	N|M	203;203;89;87;203|3	ENSP00000263671:S203N;ENSP00000365510:S203N;ENSP00000431380:S203N|.	ENSP00000263671:S203N|.	S|V	-|-	2|1	0|0	CHRDL2|CHRDL2	74093322|74093322	0.006000|0.006000	0.16342|0.16342	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	2.129000|2.129000	0.42055|0.42055	1.186000|1.186000	0.42985|0.42985	0.462000|0.462000	0.41574|0.41574	AGT|GTG		0.602	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			9	9	0	0	0	1	0	9	9				
ARRDC3	57561	broad.mit.edu	37	5	90671424	90671424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:90671424G>A	ENST00000265138.3	-	4	783	c.517C>T	c.(517-519)Caa>Taa	p.Q173*	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	173					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GTGCCTGCTTGGGGTGACTGT	0.368																																						ENST00000265138.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(517-519)Caa>Taa		arrestin domain containing 3							95.0	101.0	99.0					5																	90671424		2203	4300	6503	SO:0001587	stop_gained	57561				signal transduction	cytoplasm	protein binding	g.chr5:90671424G>A	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.517C>T	5.37:g.90671424G>A	ENSP00000265138:p.Gln173*					ARRDC3_ENST00000503192.1_5'UTR	p.Q173*	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	4	783	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	173					A8K6T8|Q9P2H1	Nonsense_Mutation	SNP	ENST00000265138.3	37	c.517C>T	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	38	6.960362	0.97964	.	.	ENSG00000113369	ENST00000265138	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-36.8189	19.0677	0.93119	0.0:0.0:1.0:0.0	.	.	.	.	X	173	.	ENSP00000265138:Q173X	Q	-	1	0	ARRDC3	90707180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.514000	0.84764	0.591000	0.81541	CAA		0.368	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		6	82	0	0	0	1	0	6	82				
UPP1	7378	broad.mit.edu	37	7	48146518	48146518	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:48146518G>A	ENST00000331803.4	+	8	1108	c.485G>A	c.(484-486)tGc>tAc	p.C162Y	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.C162Y|UPP1_ENST00000429491.2_Missense_Mutation_p.C25Y|UPP1_ENST00000395564.4_Missense_Mutation_p.C162Y			Q16831	UPP1_HUMAN	uridine phosphorylase 1	162					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GTGGATACCTGCTTCAAGGCA	0.493																																						ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(484-486)tGc>tAc		uridine phosphorylase 1							82.0	83.0	83.0					7																	48146518		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48146518G>A	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.485G>A	7.37:g.48146518G>A	ENSP00000330032:p.Cys162Tyr					UPP1_ENST00000341253.4_Missense_Mutation_p.C162Y|UPP1_ENST00000395564.4_Missense_Mutation_p.C162Y|UPP1_ENST00000429491.2_Missense_Mutation_p.C25Y|UPP1_ENST00000482015.1_3'UTR	p.C162Y			Q16831	UPP1_HUMAN			8	1108	+			162					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.485G>A	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	2.422	-0.332796	0.05314	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.62	3.81	0.43845	Nucleoside phosphorylase domain (1);	0.427353	0.29040	N	0.013336	T	0.78362	0.4271	L	0.48642	1.525	0.31395	N	0.677391	B;B	0.32876	0.253;0.388	B;B	0.31495	0.131;0.131	T	0.70117	-0.4960	10	0.02654	T	1	-15.0317	9.7002	0.40182	0.0782:0.4206:0.5013:0.0	.	25;162	Q86Y75;Q16831	.;UPP1_HUMAN	Y	162;162;162;25	ENSP00000330032:C162Y;ENSP00000342878:C162Y;ENSP00000378931:C162Y;ENSP00000406224:C25Y	ENSP00000330032:C162Y	C	+	2	0	UPP1	48113043	0.195000	0.23338	0.992000	0.48379	0.914000	0.54420	0.290000	0.18975	0.720000	0.32209	0.650000	0.86243	TGC		0.493	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		24	47	0	0	0	1	0	24	47				
IDO2	169355	broad.mit.edu	37	8	39873007	39873007	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:39873007C>T	ENST00000389060.4	+	10	1110	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Silent_p.L383L			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	370					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAAACCATCTCCCAGGGCCTC	0.532																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(1147-1149)ctC>ctT		indoleamine 2,3-dioxygenase 2							93.0	92.0	92.0					8																	39873007		2005	4154	6159	SO:0001819	synonymous_variant	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39873007C>T	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1110C>T	8.37:g.39873007C>T						IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.L370L	p.L383L	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			11	1391	+			370					A4UD41	Silent	SNP	ENST00000389060.4	37	c.1149C>T																																																																																					0.532	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		5	84	0	0	0	1	0	5	84				
TTLL4	9654	broad.mit.edu	37	2	219614006	219614006	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219614006G>A	ENST00000392102.1	+	14	2971	c.2631G>A	c.(2629-2631)aaG>aaA	p.K877K	TTLL4_ENST00000442769.1_Silent_p.K813K|TTLL4_ENST00000258398.4_Silent_p.K877K|TTLL4_ENST00000457313.1_Silent_p.K712K	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	877	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCCTGCTCAAGATGTATGTGC	0.527																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2629-2631)aaG>aaA		tubulin tyrosine ligase-like family, member 4							155.0	130.0	139.0					2																	219614006		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219614006G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2631G>A	2.37:g.219614006G>A						TTLL4_ENST00000457313.1_Silent_p.K712K|TTLL4_ENST00000442769.1_Silent_p.K813K|TTLL4_ENST00000258398.4_Silent_p.K877K	p.K877K	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	14	2971	+		Renal(207;0.0915)	877			TTL.		A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.2631G>A	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.14|10.14	1.267878|1.267878	0.23136|0.23136	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000436668|ENST00000448224	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|.	.|.	.|.	.|.	T|T	0.75496|0.75496	0.3857|0.3857	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.72727|0.72727	-0.4206|-0.4206	4|4	.|.	.|.	.|.	.|.	19.2867|19.2867	0.94077|0.94077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|K	22|168	.|.	.|.	D|R	+|+	1|2	0|0	TTLL4|TTLL4	219322250|219322250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	5.512000|5.512000	0.67030|0.67030	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.527	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		26	50	0	0	0	1	0	26	50				
ZNF407	55628	broad.mit.edu	37	18	72343410	72343410	+	Silent	SNP	G	G	A	rs562887940	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:72343410G>A	ENST00000299687.5	+	1	435	c.435G>A	c.(433-435)ctG>ctA	p.L145L	ZNF407_ENST00000309902.6_Silent_p.L145L|ZNF407_ENST00000577538.1_Silent_p.L145L|ZNF407_ENST00000582337.1_Silent_p.L145L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTGTTTCTCTGAAAACAGACA	0.438																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(433-435)ctG>ctA		zinc finger protein 407							81.0	79.0	79.0					18																	72343410		1882	4108	5990	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343410G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.435G>A	18.37:g.72343410G>A						ZNF407_ENST00000309902.6_Silent_p.L145L|ZNF407_ENST00000577538.1_Silent_p.L145L|ZNF407_ENST00000582337.1_Silent_p.L145L	p.L145L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	435	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	145					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.435G>A	CCDS45885.1																																																																																				0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		5	40	0	0	0	1	0	5	40				
AHNAK	79026	broad.mit.edu	37	11	62300331	62300331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62300331C>T	ENST00000378024.4	-	5	1832	c.1558G>A	c.(1558-1560)Gtt>Att	p.V520I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	520					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGAGCAGAAACCTTAATATCT	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1558-1560)Gtt>Att		AHNAK nucleoprotein							114.0	125.0	121.0					11																	62300331		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62300331C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1558G>A	11.37:g.62300331C>T	ENSP00000367263:p.Val520Ile					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V520I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	1832	-		Melanoma(852;0.155)	520					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1558G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466400	0.26335	.	.	ENSG00000124942	ENST00000378024	T	0.01059	5.39	5.29	2.29	0.28610	.	1.210740	0.06442	N	0.726213	T	0.03390	0.0098	L	0.45051	1.395	0.09310	N	1	D	0.56035	0.974	D	0.73708	0.981	T	0.48790	-0.9004	10	0.24483	T	0.36	-0.8413	4.3416	0.11113	0.1525:0.5432:0.0:0.3044	.	520	Q09666	AHNK_HUMAN	I	520	ENSP00000367263:V520I	ENSP00000367263:V520I	V	-	1	0	AHNAK	62056907	0.000000	0.05858	0.001000	0.08648	0.975000	0.68041	0.104000	0.15313	0.194000	0.20326	0.555000	0.69702	GTT		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		12	161	0	0	0	1	0	12	161				
MICAL3	57553	broad.mit.edu	37	22	18384712	18384712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:18384712G>A	ENST00000441493.2	-	5	975	c.623C>T	c.(622-624)aCt>aTt	p.T208I	MICAL3_ENST00000400561.2_Missense_Mutation_p.T208I|MICAL3_ENST00000444520.1_Missense_Mutation_p.T208I|MICAL3_ENST00000585038.1_Missense_Mutation_p.T208I|MICAL3_ENST00000429452.1_Missense_Mutation_p.T208I|MICAL3_ENST00000383094.3_Missense_Mutation_p.T208I|MICAL3_ENST00000414725.2_Missense_Mutation_p.T208I|MICAL3_ENST00000207726.7_Missense_Mutation_p.T208I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	208	Monooxygenase domain. {ECO:0000250}.				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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CACAGGATGAGTCTTGGGGTG	0.527																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(622-624)aCt>aTt		microtubule associated monooxygenase, calponin and LIM domain containing 3							73.0	63.0	66.0					22																	18384712		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18384712G>A	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.623C>T	22.37:g.18384712G>A	ENSP00000416015:p.Thr208Ile					MICAL3_ENST00000414725.2_Missense_Mutation_p.T208I|MICAL3_ENST00000383094.3_Missense_Mutation_p.T208I|MICAL3_ENST00000429452.1_Missense_Mutation_p.T208I|MICAL3_ENST00000400561.2_Missense_Mutation_p.T208I|MICAL3_ENST00000585038.1_Missense_Mutation_p.T208I|MICAL3_ENST00000207726.7_Missense_Mutation_p.T208I|MICAL3_ENST00000444520.1_Missense_Mutation_p.T208I	p.T208I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	5	975	-		all_epithelial(15;0.198)	208					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.623C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767013	0.69878	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27;3.27;3.27	5.85	5.85	0.93711	.	0.134563	0.64402	D	0.000002	T	0.17066	0.0410	N	0.19112	0.55	0.46701	D	0.999161	P;D;B;P;D	0.76494	0.612;0.994;0.041;0.886;0.999	B;P;B;P;D	0.78314	0.222;0.767;0.037;0.708;0.991	T	0.01520	-1.1334	10	0.72032	D	0.01	.	15.6181	0.76784	0.0:0.1368:0.8632:0.0	.	208;208;208;208;208	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	I	208	ENSP00000416015:T208I;ENSP00000414846:T208I;ENSP00000383406:T208I;ENSP00000410315:T208I;ENSP00000391827:T208I;ENSP00000372574:T208I;ENSP00000207726:T208I	ENSP00000207726:T208I	T	-	2	0	XXbac-B461K10.4;MICAL3	16764712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.046000	0.57376	2.767000	0.95098	0.655000	0.94253	ACT		0.527	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			4	33	0	0	0	1	0	4	33				
GAS2L3	283431	broad.mit.edu	37	12	101017918	101017918	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:101017918G>A	ENST00000539410.1	+	9	1721	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	GAS2L3_ENST00000537247.1_Silent_p.K341K|GAS2L3_ENST00000547754.1_Silent_p.K445K|GAS2L3_ENST00000266754.5_Silent_p.K445K			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	445					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAAGGCCAAGGTTATTCCAG	0.413																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1021-1023)aaG>aaA		growth arrest-specific 2 like 3							94.0	96.0	95.0					12																	101017918		2203	4300	6503	SO:0001819	synonymous_variant	283431				cell cycle arrest			g.chr12:101017918G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1335G>A	12.37:g.101017918G>A						GAS2L3_ENST00000547754.1_Silent_p.K445K|GAS2L3_ENST00000539410.1_Silent_p.K445K|GAS2L3_ENST00000266754.5_Silent_p.K445K	p.K341K			Q86XJ1	GA2L3_HUMAN			10	1977	+			445					B2RCN2	Silent	SNP	ENST00000539410.1	37	c.1023G>A	CCDS9079.1																																																																																				0.413	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		10	110	0	0	0	1	0	10	110				
COL4A3	1285	broad.mit.edu	37	2	228172566	228172566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:228172566G>A	ENST00000396578.3	+	48	4555	c.4393G>A	c.(4393-4395)Gtg>Atg	p.V1465M	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1465	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGAGGGGACAGTGCCACTCTA	0.507																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(4393-4395)Gtg>Atg		collagen, type IV, alpha 3 (Goodpasture antigen)							115.0	109.0	111.0					2																	228172566		1941	4137	6078	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228172566G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4393G>A	2.37:g.228172566G>A	ENSP00000379823:p.Val1465Met					AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.V1465M	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	48	4555	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1465			Collagen IV NC1.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.4393G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948244	0.18356	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000315699	D	0.94376	-3.41	5.9	1.92	0.25849	C-type lectin fold (1);	1.055790	0.07388	N	0.888626	D	0.87204	0.6119	N	0.25647	0.755	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.11329	0.003;0.003;0.006	T	0.75141	-0.3422	10	0.48119	T	0.1	.	4.433	0.11536	0.13:0.4134:0.3388:0.1177	.	1465;1465;1465	Q01955-4;Q01955-2;Q01955	.;.;CO4A3_HUMAN	M	1465	ENSP00000379823:V1465M	ENSP00000323334:V1465M	V	+	1	0	COL4A3	227880810	0.000000	0.05858	0.158000	0.22627	0.151000	0.21798	0.148000	0.16224	0.323000	0.23307	0.650000	0.86243	GTG		0.507	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		17	58	0	0	0	1	0	17	58				
ESYT2	57488	broad.mit.edu	37	7	158557374	158557374	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:158557374G>A	ENST00000251527.5	-	9	1304	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	441	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCACCTCATAGACTTCATTCC	0.527																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(1237-1239)gtC>gtT		extended synaptotagmin-like protein 2							142.0	138.0	139.0					7																	158557374		2203	4300	6503	SO:0001819	synonymous_variant	57488					integral to membrane|plasma membrane		g.chr7:158557374G>A	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1239C>T	7.37:g.158557374G>A							p.V413V	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			9	1304	-			441			C2 1.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	c.1239C>T	CCDS34791.1																																																																																				0.527	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		11	179	0	0	0	1	0	11	179				
ZNF609	23060	broad.mit.edu	37	15	64967154	64967154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:64967154C>T	ENST00000326648.3	+	4	2229	c.2101C>T	c.(2101-2103)Ctc>Ttc	p.L701F		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	701						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGTCCCCAACTCAAGCCCAT	0.527																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2101-2103)Ctc>Ttc		zinc finger protein 609							142.0	138.0	140.0					15																	64967154		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64967154C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2101C>T	15.37:g.64967154C>T	ENSP00000316527:p.Leu701Phe						p.L701F	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2229	+			701					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.2101C>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236952	0.58886	.	.	ENSG00000180357	ENST00000326648	T	0.62941	-0.01	5.79	5.79	0.91817	.	0.056892	0.64402	D	0.000001	T	0.75072	0.3800	M	0.65975	2.015	0.80722	D	1	D	0.63046	0.992	D	0.63381	0.914	T	0.76184	-0.3052	10	0.59425	D	0.04	-18.328	14.2195	0.65818	0.0:0.9289:0.0:0.0711	.	701	O15014	ZN609_HUMAN	F	701	ENSP00000316527:L701F	ENSP00000316527:L701F	L	+	1	0	ZNF609	62754207	0.999000	0.42202	0.971000	0.41717	0.987000	0.75469	4.126000	0.57937	2.735000	0.93741	0.591000	0.81541	CTC		0.527	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		10	178	0	0	0	1	0	10	178				
EXTL3	2137	broad.mit.edu	37	8	28608344	28608344	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:28608344C>T	ENST00000220562.4	+	7	3623	c.2721C>T	c.(2719-2721)cgC>cgT	p.R907R	EXTL3_ENST00000523149.1_Silent_p.R523R|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	907					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)			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)		TCAAGACACGCCTGCCCCATG	0.562																																						ENST00000220562.4																			0				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						c.(2719-2721)cgC>cgT		exostosin-like glycosyltransferase 3							169.0	130.0	143.0					8																	28608344		2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28608344C>T	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.2721C>T	8.37:g.28608344C>T						EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.R523R	p.R907R	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	7	3623	+		Ovarian(32;0.069)	907					D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.2721C>T	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175571	0.21704	.	.	ENSG00000012232	ENST00000521473	.	.	.	5.61	4.73	0.59995	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54450	-0.8292	4	.	.	.	-22.9457	7.7488	0.28886	0.2807:0.6445:0.0:0.0749	.	.	.	.	S	198	.	.	P	+	1	0	EXTL3	28664263	0.998000	0.40836	1.000000	0.80357	0.918000	0.54935	0.560000	0.23500	2.643000	0.89663	0.555000	0.69702	CCT		0.562	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		38	76	0	0	0	1	0	38	76				
ZNF256	10172	broad.mit.edu	37	19	58452602	58452602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58452602C>T	ENST00000282308.3	-	3	1770	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	525					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAAAAACTTCCCACATTCATT	0.458																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1573-1575)gGg>gAg		zinc finger protein 256							73.0	68.0	70.0					19																	58452602		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452602C>T	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1574G>A	19.37:g.58452602C>T	ENSP00000282308:p.Gly525Glu					ZNF256_ENST00000598928.1_3'UTR	p.G525E	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1770	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	525					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.1574G>A	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.112955	0.77210	.	.	ENSG00000152454	ENST00000282308	T	0.01221	5.15	2.84	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	L	0.49571	1.57	0.34118	D	0.663799	D	0.58620	0.983	P	0.50934	0.654	T	0.51980	-0.8636	9	0.52906	T	0.07	.	8.8278	0.35065	0.0:0.8771:0.0:0.1229	.	525	Q9Y2P7	ZN256_HUMAN	E	525	ENSP00000282308:G525E	ENSP00000282308:G525E	G	-	2	0	ZNF256	63144414	0.784000	0.28713	0.296000	0.24974	0.537000	0.34900	1.564000	0.36375	0.513000	0.28278	0.467000	0.42956	GGG		0.458	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			7	104	0	0	0	1	0	7	104				
VPS13B	157680	broad.mit.edu	37	8	100133655	100133655	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:100133655G>A	ENST00000358544.2	+	8	1299	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	VPS13B_ENST00000355155.1_Silent_p.K396K|CTD-2340D6.1_ENST00000523226.1_RNA|VPS13B_ENST00000441350.2_Silent_p.K396K|VPS13B_ENST00000357162.2_Silent_p.K396K|VPS13B_ENST00000395996.1_Silent_p.K396K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	396					protein transport (GO:0015031)					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)			ATTGCACAAAGGCAACGGTGA	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				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						c.(1186-1188)aaG>aaA		vacuolar protein sorting 13 homolog B (yeast)							157.0	157.0	157.0					8																	100133655		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100133655G>A	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.1188G>A	8.37:g.100133655G>A						VPS13B_ENST00000357162.2_Silent_p.K396K|VPS13B_ENST00000441350.2_Silent_p.K396K|VPS13B_ENST00000355155.1_Silent_p.K396K|VPS13B_ENST00000358544.2_Silent_p.K396K	p.K396K			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		8	1299	+	Breast(36;3.73e-07)		396					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.1188G>A	CCDS6280.1																																																																																				0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	74	0	0	0	1	0	10	74				
OPLAH	26873	broad.mit.edu	37	8	145112160	145112160	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145112160C>T	ENST00000426825.1	-	11	1567	c.1486G>A	c.(1486-1488)Gca>Aca	p.A496T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	496					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCACATGCATGCTGCCCA	0.662																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1486-1488)Gca>Aca		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						21.0	26.0	24.0					8																	145112160		2127	4230	6357	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145112160C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1486G>A	8.37:g.145112160C>T	ENSP00000475943:p.Ala496Thr					OPLAH_ENST00000534424.1_5'UTR	p.A496T	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		11	1567	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		496					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.1486G>A		.	.	.	.	.	.	.	.	.	.	C	12.03	1.815661	0.32145	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.06	4.06	0.47325	.	0.054295	0.64402	N	0.000001	T	0.65626	0.2709	.	.	.	0.50039	D	0.999846	B	0.29909	0.261	B	0.41813	0.367	T	0.76634	-0.2887	7	0.87932	D	0	.	14.0901	0.64984	0.0:1.0:0.0:0.0	.	496	O14841	OPLA_HUMAN	T	496	.	ENSP00000412071:A496T	A	-	1	0	OPLAH	145184148	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	5.597000	0.67577	1.974000	0.57490	0.313000	0.20887	GCA		0.662	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		6	21	0	0	0	1	0	6	21				
MELK	9833	broad.mit.edu	37	9	36657346	36657346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:36657346C>T	ENST00000298048.2	+	13	1346	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	MELK_ENST00000536329.1_Missense_Mutation_p.P317S|MELK_ENST00000545008.1_Missense_Mutation_p.P317S|MELK_ENST00000538311.1_Missense_Mutation_p.P194S|MELK_ENST00000543751.1_Missense_Mutation_p.P356S|MELK_ENST00000541717.1_Intron|MELK_ENST00000536860.1_Missense_Mutation_p.P340S|MELK_ENST00000536987.1_Missense_Mutation_p.P257S	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	388	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGCTGCTACTCCCCGAACATC	0.378																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1066-1068)Ccc>Tcc		maternal embryonic leucine zipper kinase							112.0	110.0	110.0					9																	36657346		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36657346C>T	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1162C>T	9.37:g.36657346C>T	ENSP00000298048:p.Pro388Ser					MELK_ENST00000538311.1_Missense_Mutation_p.P194S|MELK_ENST00000545008.1_Missense_Mutation_p.P317S|MELK_ENST00000541717.1_Intron|MELK_ENST00000536987.1_Missense_Mutation_p.P257S|MELK_ENST00000536860.1_Missense_Mutation_p.P340S|MELK_ENST00000536329.1_Missense_Mutation_p.P317S|MELK_ENST00000298048.2_Missense_Mutation_p.P388S	p.P356S	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		12	1211	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	388					A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.1066C>T	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340409	0.24339	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000543751	T;T;T;T;T;T;T	0.70749	-0.32;0.67;0.45;0.98;0.36;-0.51;-0.32	4.11	4.11	0.48088	.	0.276681	0.41294	D	0.000907	T	0.70850	0.3271	L	0.56769	1.78	0.47698	D	0.999493	P;P;B;P;P;B	0.50443	0.745;0.935;0.099;0.745;0.615;0.415	B;P;B;B;B;B	0.49252	0.218;0.604;0.045;0.218;0.269;0.164	T	0.69669	-0.5083	10	0.34782	T	0.22	-9.0591	12.1708	0.54157	0.0:1.0:0.0:0.0	.	308;317;340;317;356;388	B7Z1G6;F5H2R4;F5H0Y0;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;MELK_HUMAN	S	388;194;257;317;340;317;356	ENSP00000298048:P388S;ENSP00000438226:P194S;ENSP00000439184:P257S;ENSP00000445452:P317S;ENSP00000439792:P340S;ENSP00000443550:P317S;ENSP00000441596:P356S	ENSP00000298048:P388S	P	+	1	0	MELK	36647346	1.000000	0.71417	0.998000	0.56505	0.099000	0.18886	2.858000	0.48356	2.568000	0.86640	0.460000	0.39030	CCC		0.378	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		15	43	0	0	0	1	0	15	43				
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216923646G>A	ENST00000265322.7	-	4	552	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.P160S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCTTTAGTAGGGACAATGATA	0.378																																						ENST00000265322.7																			2	Substitution - Missense(2)	p.P160S(2)	lung(2)	endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14						c.(478-480)Cct>Tct		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)						130.0	123.0	125.0					2																	216923646		2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216923646G>A	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.478C>T	2.37:g.216923646G>A	ENSP00000265322:p.Pro160Ser					PECR_ENST00000497889.1_5'UTR	p.P160S	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	552	-		Renal(323;0.0327)	160					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.478C>T	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	G	2.455	-0.325359	0.05350	.	.	ENSG00000115425	ENST00000265322	T	0.41400	1.0	5.77	-6.36	0.01969	NAD(P)-binding domain (1);	0.997042	0.08128	N	0.993586	T	0.12050	0.0293	N	0.01202	-0.96	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.41413	-0.9510	10	0.08599	T	0.76	.	9.7823	0.40656	0.0643:0.5789:0.1357:0.2211	.	160;14	Q9BY49;Q9BY49-2	PECR_HUMAN;.	S	160	ENSP00000265322:P160S	ENSP00000265322:P160S	P	-	1	0	PECR	216631891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.742000	0.04850	-0.735000	0.04837	-2.537000	0.00180	CCT		0.378	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		16	41	0	0	0	1	0	16	41				
PFKP	5214	broad.mit.edu	37	10	3155622	3155622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:3155622C>T	ENST00000381125.4	+	13	1359	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	PFKP_ENST00000381075.2_Missense_Mutation_p.A420V	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	428	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)			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)		ATGAACGCAGCCGTACGCTCA	0.617																																						ENST00000381075.2																			0				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						c.(1258-1260)gCc>gTc		phosphofructokinase, platelet							48.0	42.0	44.0					10																	3155622		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3155622C>T	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.1283C>T	10.37:g.3155622C>T	ENSP00000370517:p.Ala428Val					PFKP_ENST00000381125.4_Missense_Mutation_p.A428V	p.A420V	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	15	1483	+			428					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1259C>T	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102562	0.76983	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005	T;T;T	0.77358	-1.09;-1.09;-1.09	5.16	5.16	0.70880	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	L	0.58669	1.825	0.80722	D	1	D;D;P	0.63880	0.993;0.993;0.902	P;P;B	0.55824	0.785;0.785;0.426	D	0.84772	0.0768	10	0.56958	D	0.05	.	18.6158	0.91302	0.0:1.0:0.0:0.0	.	420;420;428	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	V	428;417;420;212	ENSP00000370517:A428V;ENSP00000370465:A420V;ENSP00000408858:A212V	ENSP00000370465:A420V	A	+	2	0	PFKP	3145622	1.000000	0.71417	0.947000	0.38551	0.032000	0.12392	7.484000	0.81180	2.563000	0.86464	0.655000	0.94253	GCC		0.617	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		12	39	0	0	0	1	0	12	39				
DNM1	1759	broad.mit.edu	37	9	130981500	130981500	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:130981500C>T	ENST00000372923.3	+	4	650	c.558C>T	c.(556-558)gcC>gcT	p.A186A	DNM1_ENST00000393594.3_Silent_p.A186A|DNM1_ENST00000475805.1_Silent_p.A186A|DNM1_ENST00000486160.1_Silent_p.A186A|DNM1_ENST00000341179.7_Silent_p.A186A	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	186	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ATTCTGACGCCCTCAAGGTCG	0.572																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(556-558)gcC>gcT		dynamin 1							86.0	83.0	84.0					9																	130981500		2203	4300	6503	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130981500C>T	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.558C>T	9.37:g.130981500C>T						DNM1_ENST00000475805.1_Silent_p.A186A|DNM1_ENST00000393594.3_Silent_p.A186A|DNM1_ENST00000372923.3_Silent_p.A186A|DNM1_ENST00000486160.1_Silent_p.A186A	p.A186A	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			4	650	+			186					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.558C>T	CCDS6895.1																																																																																				0.572	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		10	77	0	0	0	1	0	10	77				
CHST11	50515	broad.mit.edu	37	12	105150759	105150759	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:105150759G>A	ENST00000303694.5	+	3	676	c.237G>A	c.(235-237)caG>caA	p.Q79Q	CHST11_ENST00000549260.1_Silent_p.Q74Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	79					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCCTGCACCAGATGCGGCGGG	0.567																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(235-237)caG>caA		carbohydrate (chondroitin 4) sulfotransferase 11							51.0	48.0	49.0					12																	105150759		2197	4292	6489	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150759G>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.237G>A	12.37:g.105150759G>A						CHST11_ENST00000549260.1_Silent_p.Q74Q	p.Q79Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	676	+			79					A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.237G>A	CCDS9099.1																																																																																				0.567	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		18	36	0	0	0	1	0	18	36				
TMEM260	54916	broad.mit.edu	37	14	57099822	57099822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:57099822G>A	ENST00000261556.6	+	13	1779	c.1657G>A	c.(1657-1659)Gta>Ata	p.V553I	TMEM260_ENST00000538838.1_3'UTR|TMEM260_ENST00000536419.1_Missense_Mutation_p.V87I|RP11-1085N6.2_ENST00000555924.1_RNA|RP11-1085N6.2_ENST00000553800.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	553						integral component of membrane (GO:0016021)											TTTGGAGATTGTATTCAACCC	0.373																																						ENST00000261556.6																			0											c.(1657-1659)Gta>Ata		transmembrane protein 260							75.0	80.0	79.0					14																	57099822		2203	4300	6503	SO:0001583	missense	54916							g.chr14:57099822G>A	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1657G>A	14.37:g.57099822G>A	ENSP00000261556:p.Val553Ile					TMEM260_ENST00000536419.1_Missense_Mutation_p.V87I|TMEM260_ENST00000538838.1_3'UTR	p.V553I	NM_017799.3	NP_060269.3					13	1779	+								A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.1657G>A	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199459	0.38806	.	.	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.44482	1.51;0.92	5.57	4.67	0.58626	.	0.468411	0.23293	N	0.049765	T	0.32585	0.0834	L	0.44542	1.39	0.25875	N	0.983666	B	0.23735	0.09	B	0.16722	0.016	T	0.16335	-1.0406	10	0.20519	T	0.43	-4.8936	10.7479	0.46191	0.0:0.2618:0.601:0.1372	.	553	Q9NX78	CN101_HUMAN	I	553;87	ENSP00000261556:V553I;ENSP00000438742:V87I	ENSP00000261556:V553I	V	+	1	0	C14orf101	56169575	0.143000	0.22626	1.000000	0.80357	0.988000	0.76386	2.274000	0.43390	1.327000	0.45338	-0.188000	0.12872	GTA		0.373	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		5	48	0	0	0	1	0	5	48				
UFC1	51506	broad.mit.edu	37	1	161123828	161123828	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161123828C>T	ENST00000368003.5	+	1	287	c.41C>T	c.(40-42)cCg>cTg	p.P14L	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	14					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)	p.P14Q(1)		endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCTGAGATCCCGGTGCTGAAG	0.557																																						ENST00000368003.5																			1	Substitution - Missense(1)	p.P14Q(1)	lung(1)	endometrium(1)|lung(9)	10						c.(40-42)cCg>cTg		ubiquitin-fold modifier conjugating enzyme 1							133.0	115.0	121.0					1																	161123828		2203	4300	6503	SO:0001583	missense	51506				protein ufmylation		protein binding|UFM1 conjugating enzyme activity	g.chr1:161123828C>T	AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.41C>T	1.37:g.161123828C>T	ENSP00000356982:p.Pro14Leu					RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR	p.P14L	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	287	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		14					A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Missense_Mutation	SNP	ENST00000368003.5	37	c.41C>T	CCDS1220.1	.	.	.	.	.	.	.	.	.	.	C	36	5.854573	0.97030	.	.	ENSG00000143222	ENST00000368003	T	0.59364	0.27	5.98	5.98	0.97165	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80158	-0.1499	10	0.59425	D	0.04	-13.0229	19.289	0.94090	0.0:1.0:0.0:0.0	.	14	Q9Y3C8	UFC1_HUMAN	L	14	ENSP00000356982:P14L	ENSP00000356982:P14L	P	+	2	0	UFC1	159390452	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	6.912000	0.75753	2.852000	0.98041	0.644000	0.83932	CCG		0.557	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080810.1	NM_016406		5	97	0	0	0	1	0	5	97				
NME6	10201	broad.mit.edu	37	3	48336660	48336660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48336660C>T	ENST00000452211.1	-	6	536	c.299G>A	c.(298-300)gGa>gAa	p.G100E	ZNF589_ENST00000412564.1_Intron|NME6_ENST00000451657.1_Missense_Mutation_p.D87N|NME6_ENST00000421967.1_Missense_Mutation_p.G108E|NME6_ENST00000447314.1_Missense_Mutation_p.G55E|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000442597.1_Missense_Mutation_p.G100E|NME6_ENST00000415644.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.G100E|NME6_ENST00000450160.1_Missense_Mutation_p.D87N|NME6_ENST00000426723.1_Intron|NME6_ENST00000426689.2_Missense_Mutation_p.G100E|NME6_ENST00000435684.1_Missense_Mutation_p.D87N			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	100					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCTGGTGGGTCCCATGAGCGT	0.582																																						ENST00000421967.1																			0				breast(1)|large_intestine(5)	6						c.(322-324)gGa>gAa		NME/NM23 nucleoside diphosphate kinase 6							74.0	65.0	68.0					3																	48336660		2203	4300	6503	SO:0001583	missense	10201				anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr3:48336660C>T	AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"""non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"""			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.299G>A	3.37:g.48336660C>T	ENSP00000392352:p.Gly100Glu					NME6_ENST00000426723.1_Intron|NME6_ENST00000426689.2_Missense_Mutation_p.G100E|NME6_ENST00000435684.1_Missense_Mutation_p.D87N|NME6_ENST00000451657.1_Missense_Mutation_p.D87N|NME6_ENST00000447314.1_Missense_Mutation_p.G55E|NME6_ENST00000415053.1_Missense_Mutation_p.G100E|NME6_ENST00000415644.1_Intron|NME6_ENST00000444069.1_5'UTR|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000452211.1_Missense_Mutation_p.G100E|NME6_ENST00000442597.1_Missense_Mutation_p.G100E|NME6_ENST00000450160.1_Missense_Mutation_p.D87N	p.G108E	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	5	368	-			100					B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Missense_Mutation	SNP	ENST00000452211.1	37	c.323G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.828430|5.828430	0.96996|0.96996	.|.	.|.	ENSG00000172113|ENSG00000172113	ENST00000450160;ENST00000451657;ENST00000435684|ENST00000421967;ENST00000426689;ENST00000452211;ENST00000415053;ENST00000442597;ENST00000447314;ENST00000425930;ENST00000456495	.|D;D;D;D;D;D;D;D	.|0.89746	.|-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97025|0.97025	0.9028|0.9028	H|H	0.99312|0.99312	4.51|4.51	0.37717|0.37717	D|D	0.924783|0.924783	P|D;D	0.49783|0.89917	0.928|1.0;1.0	P|D;D	0.45829|0.97110	0.494|1.0;0.998	D|D	0.99918|0.99918	1.1235|1.1235	8|10	0.49607|0.87932	T|D	0.09|0	-5.1154|-5.1154	16.0219|16.0219	0.80503|0.80503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	87|100;100	O75414-3|O75414;C9J9V6	.|NDK6_HUMAN;.	N|E	87|108;100;100;100;100;55;100;100	.|ENSP00000416658:G108E;ENSP00000440286:G100E;ENSP00000392352:G100E;ENSP00000399582:G100E;ENSP00000406642:G100E;ENSP00000414842:G55E;ENSP00000411116:G100E;ENSP00000392715:G100E	ENSP00000393261:D87N|ENSP00000399582:G100E	D|G	-|-	1|2	0|0	NME6|NME6	48311664|48311664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	7.301000|7.301000	0.78850|0.78850	2.727000|2.727000	0.93392|0.93392	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.582	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000346107.1	NM_005793		6	54	0	0	0	1	0	6	54				
SUSD2	56241	broad.mit.edu	37	22	24579191	24579191	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:24579191G>A	ENST00000358321.3	+	2	504	c.243G>A	c.(241-243)cgG>cgA	p.R81R		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	81					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TTGTGGTGCGGCACTTCAAGA	0.627																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(241-243)cgG>cgA		sushi domain containing 2							56.0	53.0	54.0					22																	24579191		2203	4296	6499	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579191G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.243G>A	22.37:g.24579191G>A							p.R81R	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			2	504	+			81					Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.243G>A	CCDS13824.1																																																																																				0.627	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		9	36	0	0	0	1	0	9	36				
KCTD21	283219	broad.mit.edu	37	11	77885469	77885469	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:77885469C>T	ENST00000340067.3	-	2	410	c.132G>A	c.(130-132)caG>caA	p.Q44Q	KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	44	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGCAGTTGCCCTGGCTGTCCC	0.577																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(130-132)caG>caA		potassium channel tetramerization domain containing 21							135.0	101.0	112.0					11																	77885469		2200	4292	6492	SO:0001819	synonymous_variant	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885469C>T	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.132G>A	11.37:g.77885469C>T						KCTD21-AS1_ENST00000600795.1_RNA	p.Q44Q	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	410	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		44			BTB.		B4DTR0	Silent	SNP	ENST00000340067.3	37	c.132G>A	CCDS31645.1																																																																																				0.577	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		4	35	0	0	0	1	0	4	35				
ERF	2077	broad.mit.edu	37	19	42753810	42753810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42753810C>T	ENST00000222329.4	-	4	611	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.V77M|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	152					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGGACAGCACCTCGGAGGGC	0.687																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(454-456)Gtg>Atg		Ets2 repressor factor							40.0	44.0	43.0					19																	42753810		2203	4299	6502	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753810C>T	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.454G>A	19.37:g.42753810C>T	ENSP00000222329:p.Val152Met					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.V77M	p.V152M	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	611	-		Prostate(69;0.00682)	152					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.454G>A	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993696	0.54041	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.55760	0.5;0.5	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.42653	0.1212	L	0.33485	1.01	0.80722	D	1	B	0.34290	0.447	B	0.32465	0.146	T	0.32348	-0.9910	10	0.33940	T	0.23	.	16.1045	0.81212	0.0:1.0:0.0:0.0	.	152	P50548	ERF_HUMAN	M	152;77	ENSP00000222329:V152M;ENSP00000388173:V77M	ENSP00000222329:V152M	V	-	1	0	ERF	47445650	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.868000	0.48436	2.754000	0.94517	0.655000	0.94253	GTG		0.687	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		21	33	0	0	0	1	0	21	33				
TEP1	7011	broad.mit.edu	37	14	20850402	20850402	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:20850402G>A	ENST00000262715.5	-	29	4294	c.4254C>T	c.(4252-4254)gcC>gcT	p.A1418A	TEP1_ENST00000556935.1_Silent_p.A1310A|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1418	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGACTTCTAGGGCAGTCAAGG	0.622																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(4252-4254)gcC>gcT		telomerase-associated protein 1							76.0	73.0	74.0					14																	20850402		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20850402G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4254C>T	14.37:g.20850402G>A						TEP1_ENST00000556935.1_Silent_p.A1310A|TEP1_ENST00000545983.1_5'UTR	p.A1418A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	29	4294	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1418			NACHT.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.4254C>T	CCDS9548.1																																																																																				0.622	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		3	49	0	0	0	1	0	3	49				
TMEM164	84187	broad.mit.edu	37	X	109414726	109414726	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:109414726G>A	ENST00000372073.1	+	6	1001	c.665G>A	c.(664-666)aGc>aAc	p.S222N	TMEM164_ENST00000372072.3_Missense_Mutation_p.S73N|TMEM164_ENST00000372068.2_Missense_Mutation_p.S222N|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.S183N			Q5U3C3	TM164_HUMAN	transmembrane protein 164	222						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TATCACTTCAGCGTCTTGCAG	0.507																																						ENST00000372073.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(664-666)aGc>aAc		transmembrane protein 164							318.0	271.0	287.0					X																	109414726		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109414726G>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.665G>A	X.37:g.109414726G>A	ENSP00000361143:p.Ser222Asn					TMEM164_ENST00000372068.2_Missense_Mutation_p.S222N|TMEM164_ENST00000288381.4_Missense_Mutation_p.S183N|TMEM164_ENST00000372072.3_Missense_Mutation_p.S73N|TMEM164_ENST00000464177.1_3'UTR	p.S222N			Q5U3C3	TM164_HUMAN			6	1001	+			222					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.665G>A	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021338	0.35701	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.3	4.42	0.53409	.	0.282534	0.45361	D	0.000379	T	0.36908	0.0984	L	0.53249	1.67	0.36154	D	0.847667	B;B	0.25955	0.138;0.032	B;B	0.15870	0.014;0.008	T	0.36089	-0.9762	10	0.22109	T	0.4	-7.3856	14.2332	0.65908	0.0:0.276:0.724:0.0	.	183;222	Q9H617;Q5U3C3	.;TM164_HUMAN	N	73;222;222;183;183	ENSP00000384075:S73N;ENSP00000361143:S222N;ENSP00000361138:S222N;ENSP00000288381:S183N	ENSP00000288381:S183N	S	+	2	0	TMEM164	109301382	1.000000	0.71417	0.955000	0.39395	0.983000	0.72400	1.969000	0.40510	0.997000	0.38969	0.523000	0.50628	AGC		0.507	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		8	241	0	0	0	1	0	8	241				
CCDC27	148870	broad.mit.edu	37	1	3673385	3673385	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:3673385C>T	ENST00000294600.2	+	4	726	c.642C>T	c.(640-642)agC>agT	p.S214S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	214										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CGGTCACCAGCAGCTCAGTCG	0.567																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(640-642)agC>agT		coiled-coil domain containing 27							58.0	57.0	58.0					1																	3673385		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3673385C>T		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.642C>T	1.37:g.3673385C>T							p.S214S	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	4	726	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	214					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.642C>T	CCDS50.1																																																																																				0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		25	54	0	0	0	1	0	25	54				
GJA4	2701	broad.mit.edu	37	1	35260339	35260339	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:35260339C>T	ENST00000342280.4	+	2	613	c.525C>T	c.(523-525)cgC>cgT	p.R175R		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	175					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCAGTGGCGCCTGTACGGCT	0.622																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(523-525)cgC>cgT		gap junction protein, alpha 4, 37kDa							56.0	49.0	52.0					1																	35260339		2203	4300	6503	SO:0001819	synonymous_variant	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260339C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.525C>T	1.37:g.35260339C>T							p.R175R	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	613	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	175					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	c.525C>T	CCDS30669.1																																																																																				0.622	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		19	31	0	0	0	1	0	19	31				
NBAS	51594	broad.mit.edu	37	2	15615843	15615843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:15615843C>T	ENST00000281513.5	-	14	1334	c.1309G>A	c.(1309-1311)Gct>Act	p.A437T	NBAS_ENST00000441750.1_Missense_Mutation_p.A437T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	437					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCATGGGTAGCAGTGACTTGA	0.358																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(1309-1311)Gct>Act		neuroblastoma amplified sequence							76.0	78.0	77.0					2																	15615843		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15615843C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1309G>A	2.37:g.15615843C>T	ENSP00000281513:p.Ala437Thr					NBAS_ENST00000441750.1_Missense_Mutation_p.A437T	p.A437T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			14	1334	-			437					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.1309G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783964	0.49891	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.10573	2.86;3.03	5.95	5.95	0.96441	.	0.111343	0.64402	D	0.000010	T	0.13798	0.0334	L	0.38838	1.175	0.30667	N	0.753824	D	0.54397	0.966	P	0.46144	0.505	T	0.01287	-1.1395	10	0.87932	D	0	.	15.0269	0.71677	0.1754:0.8246:0.0:0.0	.	437	A2RRP1	NBAS_HUMAN	T	437	ENSP00000413201:A437T;ENSP00000281513:A437T	ENSP00000281513:A437T	A	-	1	0	NBAS	15533294	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.870000	0.56070	2.831000	0.97527	0.561000	0.74099	GCT		0.358	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		5	58	0	0	0	1	0	5	58				
TCOF1	6949	broad.mit.edu	37	5	149775931	149775931	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149775931G>A	ENST00000504761.2	+	24	3868	c.3868G>A	c.(3868-3870)Gcg>Acg	p.A1290T	TCOF1_ENST00000439160.2_Missense_Mutation_p.A1253T|TCOF1_ENST00000451292.1_Missense_Mutation_p.A1327T|TCOF1_ENST00000445265.2_Missense_Mutation_p.A1214T|TCOF1_ENST00000323668.7_Missense_Mutation_p.A1213T|TCOF1_ENST00000513346.1_Missense_Mutation_p.A1290T|TCOF1_ENST00000377797.3_Missense_Mutation_p.A1291T			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1290					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAACCCTGGCGCTGCAAAG	0.607																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3979-3981)Gcg>Acg		Treacher Collins-Franceschetti syndrome 1							46.0	52.0	50.0					5																	149775931		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149775931G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3868G>A	5.37:g.149775931G>A	ENSP00000421655:p.Ala1290Thr					TCOF1_ENST00000323668.7_Missense_Mutation_p.A1213T|TCOF1_ENST00000439160.2_Missense_Mutation_p.A1253T|TCOF1_ENST00000504761.2_Missense_Mutation_p.A1290T|TCOF1_ENST00000513346.1_Missense_Mutation_p.A1290T|TCOF1_ENST00000445265.2_Missense_Mutation_p.A1214T|TCOF1_ENST00000377797.3_Missense_Mutation_p.A1291T	p.A1327T			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		25	4087	+		all_hematologic(541;0.224)	1290					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3979G>A	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	3.441	-0.114035	0.06881	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.61	0.586	0.17434	.	0.688531	0.11994	N	0.509479	T	0.28234	0.0697	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.19583	0.037;0.017;0.037;0.022;0.017	B;B;B;B;B	0.26094	0.066;0.022;0.066;0.03;0.022	T	0.26121	-1.0112	10	0.11182	T	0.66	-0.7464	3.7206	0.08454	0.3032:0.0:0.5252:0.1716	.	1253;1213;1252;1290;1214	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	T	1327;1291;1214;1213;1253;1252;1290;1290	ENSP00000400939:A1327T;ENSP00000367028:A1291T;ENSP00000409944:A1214T;ENSP00000325223:A1213T;ENSP00000406888:A1253T;ENSP00000390717:A1252T;ENSP00000421655:A1290T;ENSP00000427484:A1290T	ENSP00000325223:A1213T	A	+	1	0	TCOF1	149756124	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.239000	0.18023	-0.023000	0.13963	-0.314000	0.08810	GCG		0.607	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		27	61	0	0	0	1	0	27	61				
GOLGB1	2804	broad.mit.edu	37	3	121448050	121448050	+	Silent	SNP	C	C	T	rs370164549		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:121448050C>T	ENST00000340645.5	-	4	512	c.387G>A	c.(385-387)gaG>gaA	p.E129E	GOLGB1_ENST00000393667.3_Silent_p.E129E|GOLGB1_ENST00000472829.1_5'UTR	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	129					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAAGTTGCTCCTCTGACTGAG	0.388																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(385-387)gaG>gaA		golgin B1		C		0,4406		0,0,2203	142.0	129.0	133.0		387	2.7	1.0	3		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GOLGB1	NM_004487.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		129/3260	121448050	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121448050C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.387G>A	3.37:g.121448050C>T						GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000340645.5_Silent_p.E129E	p.E129E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	4	497	-			129					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.387G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	2.355	-0.348049	0.05208	0.0	1.16E-4	ENSG00000173230	ENST00000489400	.	.	.	5.48	2.74	0.32292	.	.	.	.	.	T	0.54013	0.1832	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43829	-0.9367	4	.	.	.	.	5.936	0.19165	0.0:0.673:0.1567:0.1703	.	.	.	.	K	75	.	.	R	-	2	0	GOLGB1	122930740	1.000000	0.71417	0.985000	0.45067	0.369000	0.29798	0.358000	0.20216	0.380000	0.24823	0.591000	0.81541	AGG		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		38	53	0	0	0	1	0	38	53				
GPR179	440435	broad.mit.edu	37	17	36482817	36482817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:36482817C>T	ENST00000342292.4	-	11	6655	c.6635G>A	c.(6634-6636)gGc>gAc	p.G2212D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2212					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCCATGCTGCCTGCTTCCTT	0.572																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(6634-6636)gGc>gAc		G protein-coupled receptor 179							93.0	93.0	93.0					17																	36482817		2066	4214	6280	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36482817C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6635G>A	17.37:g.36482817C>T	ENSP00000345060:p.Gly2212Asp					GPR179_ENST00000584976.1_Intron	p.G2212D	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	6655	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2212						Missense_Mutation	SNP	ENST00000342292.4	37	c.6635G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.322988	0.41096	.	.	ENSG00000188888	ENST00000342292	T	0.55760	0.5	4.85	3.89	0.44902	.	0.311015	0.23226	N	0.050518	T	0.24890	0.0604	N	0.11427	0.14	0.24484	N	0.994339	P	0.43094	0.799	B	0.37508	0.252	T	0.11916	-1.0568	10	0.08837	T	0.75	-6.0003	6.6827	0.23129	0.0:0.7327:0.0:0.2673	.	2212	Q6PRD1	GP179_HUMAN	D	2212	ENSP00000345060:G2212D	ENSP00000345060:G2212D	G	-	2	0	GPR179	33736343	0.000000	0.05858	0.052000	0.19188	0.107000	0.19398	-0.240000	0.08952	1.277000	0.44412	-0.378000	0.06908	GGC		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			6	76	0	0	0	1	0	6	76				
STAB1	23166	broad.mit.edu	37	3	52547802	52547802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52547802C>T	ENST00000321725.6	+	31	3416	c.3340C>T	c.(3340-3342)Ctc>Ttc	p.L1114F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1114	FAS1 3. {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)			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)		CCTACACATCCTCAGCCAGGT	0.592																																						ENST00000321725.6																			0				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						c.(3340-3342)Ctc>Ttc		stabilin 1							125.0	105.0	112.0					3																	52547802		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52547802C>T	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.3340C>T	3.37:g.52547802C>T	ENSP00000312946:p.Leu1114Phe						p.L1114F	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		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)	31	3416	+			1114			FAS1 3.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.3340C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454900	0.63290	.	.	ENSG00000010327	ENST00000321725	D	0.91180	-2.8	5.4	-0.415	0.12355	FAS1 domain (5);	0.440276	0.22761	N	0.055953	D	0.89787	0.6816	M	0.69823	2.125	0.28854	N	0.895878	P	0.43885	0.82	P	0.46685	0.524	D	0.84871	0.0825	10	0.66056	D	0.02	-8.7293	9.7059	0.40216	0.4399:0.2523:0.3078:0.0	.	1114	Q9NY15	STAB1_HUMAN	F	1114	ENSP00000312946:L1114F	ENSP00000312946:L1114F	L	+	1	0	STAB1	52522842	0.001000	0.12720	0.229000	0.23960	0.931000	0.56810	-0.925000	0.03992	-0.453000	0.07076	-0.261000	0.10672	CTC		0.592	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		31	42	0	0	0	1	0	31	42				
PIGT	51604	broad.mit.edu	37	20	44050157	44050157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44050157C>T	ENST00000279036.6	+	9	1248	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S	PIGT_ENST00000372689.5_Intron|PIGT_ENST00000341555.5_Missense_Mutation_p.P196S|PIGT_ENST00000543458.2_Missense_Mutation_p.P334S|PIGT_ENST00000545755.1_Missense_Mutation_p.P128S|PIGT_ENST00000535404.1_Missense_Mutation_p.P235S|PIGT_ENST00000279035.9_Missense_Mutation_p.P288S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	390					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GGACACCGTACCCTGGTATCT	0.607																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1168-1170)Ccc>Tcc		phosphatidylinositol glycan anchor biosynthesis, class T							110.0	100.0	103.0					20																	44050157		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44050157C>T		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1168C>T	20.37:g.44050157C>T	ENSP00000279036:p.Pro390Ser					PIGT_ENST00000372689.5_Intron|PIGT_ENST00000535404.1_Missense_Mutation_p.P235S|PIGT_ENST00000543458.2_Missense_Mutation_p.P334S|PIGT_ENST00000545755.1_Missense_Mutation_p.P128S|PIGT_ENST00000279035.9_Missense_Mutation_p.P288S|PIGT_ENST00000341555.5_Missense_Mutation_p.P196S	p.P390S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			9	1248	+		Myeloproliferative disorder(115;0.0122)	390					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.1168C>T	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098599	0.94197	.	.	ENSG00000124155	ENST00000543458;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.89403	0.6705	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.997;0.998;0.995;0.966;0.998;0.957;0.999;0.996	D;D;P;P;D;P;D;D	0.77557	0.942;0.99;0.87;0.873;0.987;0.728;0.982;0.945	D	0.91706	0.5377	10	0.87932	D	0	-37.943	17.7081	0.88314	0.0:1.0:0.0:0.0	.	228;288;235;334;128;196;128;390	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7ZAP3;Q969N2-2;B7Z1N3;Q969N2	.;.;.;.;.;.;.;PIGT_HUMAN	S	334;288;390;128;196;235	ENSP00000441577:P334S;ENSP00000279035:P288S;ENSP00000279036:P390S;ENSP00000443963:P128S;ENSP00000343783:P196S;ENSP00000440528:P235S	ENSP00000279035:P288S	P	+	1	0	PIGT	43483571	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.405000	0.80007	2.724000	0.93272	0.561000	0.74099	CCC		0.607	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		12	39	0	0	0	1	0	12	39				
SLIT2	9353	broad.mit.edu	37	4	20530629	20530629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:20530629C>T	ENST00000504154.1	+	16	1772	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L	MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000503837.1_Missense_Mutation_p.P503L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P499L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P511L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	507	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGGCTTGCCCTGAAAAGTGT	0.413																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1519-1521)cCt>cTt		slit homolog 2 (Drosophila)							121.0	122.0	122.0					4																	20530629		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20530629C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1520C>T	4.37:g.20530629C>T	ENSP00000422591:p.Pro507Leu					SLIT2_ENST00000273739.5_Missense_Mutation_p.P511L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P503L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P499L	p.P507L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			16	1772	+			507			LRRNT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1520C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514054	0.85389	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	5.93	5.93	0.95920	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.98510	1.0618	10	0.66056	D	0.02	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	499;507	O94813-3;O94813	.;SLIT2_HUMAN	L	499;507;511;503;503	ENSP00000427548:P499L;ENSP00000422591:P507L;ENSP00000273739:P511L;ENSP00000422261:P503L	ENSP00000273739:P511L	P	+	2	0	SLIT2	20139727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.481000	0.81124	2.798000	0.96311	0.655000	0.94253	CCT		0.413	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			27	81	0	0	0	1	0	27	81				
XRCC6	2547	broad.mit.edu	37	22	42032746	42032746	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42032746G>A	ENST00000359308.4	+	4	1216	c.561G>A	c.(559-561)agG>agA	p.R187R	XRCC6_ENST00000405878.1_Silent_p.R187R|XRCC6_ENST00000405506.1_Silent_p.R137R|XRCC6_ENST00000360079.3_Silent_p.R187R|XRCC6_ENST00000402580.3_Silent_p.R146R|XRCC6_ENST00000428575.2_Silent_p.R54R			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	187					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|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)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|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)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|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)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GCCGGGCCAGGACCAAAGCCG	0.423								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(559-561)agG>agA	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							62.0	63.0	63.0					22																	42032746		2203	4300	6503	SO:0001819	synonymous_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42032746G>A	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.561G>A	22.37:g.42032746G>A						XRCC6_ENST00000405506.1_Silent_p.R137R|XRCC6_ENST00000360079.3_Silent_p.R187R|XRCC6_ENST00000405878.1_Silent_p.R187R|XRCC6_ENST00000428575.2_Silent_p.R54R|XRCC6_ENST00000402580.3_Silent_p.R146R	p.R187R			P12956	XRCC6_HUMAN			4	1216	+			187					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	c.561G>A	CCDS14021.1																																																																																				0.423	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		5	81	0	0	0	1	0	5	81				
LMOD1	25802	broad.mit.edu	37	1	201869824	201869824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201869824C>T	ENST00000367288.4	-	2	563	c.317G>A	c.(316-318)aGa>aAa	p.R106K	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	106					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCTGGCATCTCTGCCCCTTTC	0.473																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(316-318)aGa>aAa		leiomodin 1 (smooth muscle)							71.0	71.0	71.0					1																	201869824		1861	4107	5968	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201869824C>T	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.317G>A	1.37:g.201869824C>T	ENSP00000356257:p.Arg106Lys						p.R106K	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	563	-			106					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.317G>A	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	C	4.376	0.069350	0.08436	.	.	ENSG00000163431	ENST00000367288;ENST00000400965	T	0.10573	2.86	5.77	1.24	0.21308	.	0.535435	0.15492	N	0.259519	T	0.06050	0.0157	L	0.31294	0.92	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.44997	-0.9291	10	0.02654	T	1	-8.2345	7.4712	0.27351	0.0:0.4566:0.0:0.5434	.	106	P29536	LMOD1_HUMAN	K	106	ENSP00000356257:R106K	ENSP00000356257:R106K	R	-	2	0	LMOD1	200136447	0.000000	0.05858	0.923000	0.36655	0.993000	0.82548	0.171000	0.16685	0.181000	0.19994	-0.345000	0.07892	AGA		0.473	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			40	58	0	0	0	1	0	40	58				
ASRGL1	80150	broad.mit.edu	37	11	62156622	62156622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62156622G>A	ENST00000415229.2	+	5	724	c.509G>A	c.(508-510)gGt>gAt	p.G170D	ASRGL1_ENST00000301776.5_Missense_Mutation_p.G170D|ASRGL1_ENST00000535727.1_Missense_Mutation_p.G42D|CTD-2531D15.5_ENST00000526045.1_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	170					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GGAACCGTGGGTGCTGTTGCC	0.458																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(508-510)gGt>gAt		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						151.0	142.0	145.0					11																	62156622		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62156622G>A		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.509G>A	11.37:g.62156622G>A	ENSP00000400057:p.Gly170Asp					ASRGL1_ENST00000535727.1_Missense_Mutation_p.G42D|ASRGL1_ENST00000301776.5_Missense_Mutation_p.G170D	p.G170D	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			5	724	+			170					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.509G>A	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	.	28.6	4.934464	0.92458	.	.	ENSG00000162174	ENST00000415229;ENST00000535727;ENST00000301776	D;D;D	0.97529	-4.42;-4.42;-4.42	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98378	1.0557	10	0.87932	D	0	-13.0144	16.2454	0.82441	0.0:0.0:1.0:0.0	.	170	Q7L266	ASGL1_HUMAN	D	170;42;170	ENSP00000400057:G170D;ENSP00000443284:G42D;ENSP00000301776:G170D	ENSP00000301776:G170D	G	+	2	0	ASRGL1	61913198	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.339000	0.90041	2.423000	0.82170	0.561000	0.74099	GGT		0.458	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		14	151	0	0	0	1	0	14	151				
AMER2	219287	broad.mit.edu	37	13	25744476	25744476	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:25744476G>A	ENST00000515384.1	-	1	1949	c.1282C>T	c.(1282-1284)Ccg>Tcg	p.P428S	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.P309S|AMER2_ENST00000381853.3_Missense_Mutation_p.P309S			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	428					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)										ACCTCGTCCGGGCTGGCCATC	0.652																																						ENST00000357816.2																			0											c.(925-927)Ccg>Tcg		APC membrane recruitment protein 2							33.0	28.0	30.0					13																	25744476		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744476G>A	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.1282C>T	13.37:g.25744476G>A	ENSP00000426528:p.Pro428Ser					AMER2_ENST00000381853.3_Missense_Mutation_p.P309S|AMER2_ENST00000515384.1_Missense_Mutation_p.P428S	p.P309S							3	1400	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.925C>T	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622740	0.66787	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.61980	0.06;0.06;0.06	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.70275	2.135	0.58432	D	0.99999	D;D	0.57899	0.981;0.976	D;P	0.63033	0.91;0.853	T	0.80251	-0.1460	10	0.87932	D	0	-24.4024	16.4189	0.83752	0.0:0.0:1.0:0.0	.	428;309	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	S	309;309;428	ENSP00000350469:P309S;ENSP00000371277:P309S;ENSP00000426528:P428S	ENSP00000350469:P309S	P	-	1	0	FAM123A	24642476	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.491000	0.97954	2.339000	0.79563	0.561000	0.74099	CCG		0.652	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		13	21	0	0	0	1	0	13	21				
ZKSCAN2	342357	broad.mit.edu	37	16	25258090	25258090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:25258090C>T	ENST00000328086.7	-	5	2230	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	476					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAATTCGATGCCTATTTCATC	0.453																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1426-1428)gGc>gAc		zinc finger with KRAB and SCAN domains 2							152.0	141.0	144.0					16																	25258090		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258090C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1427G>A	16.37:g.25258090C>T	ENSP00000331626:p.Gly476Asp						p.G476D	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	2230	-			476					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1427G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955159	0.34471	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07216	3.21	5.57	4.63	0.57726	.	0.180119	0.40385	N	0.001105	T	0.09905	0.0243	M	0.62723	1.935	0.21445	N	0.999689	B;B;B	0.31318	0.137;0.319;0.137	B;B;B	0.30855	0.049;0.121;0.049	T	0.21075	-1.0256	10	0.21014	T	0.42	-10.2892	10.4799	0.44687	0.0:0.9106:0.0:0.0894	.	272;476;476	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	D	476	ENSP00000331626:G476D	ENSP00000331626:G476D	G	-	2	0	ZKSCAN2	25165591	0.060000	0.20803	0.200000	0.23457	0.542000	0.35054	1.398000	0.34554	1.492000	0.48499	0.655000	0.94253	GGC		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		34	124	0	0	0	1	0	34	124				
MKL1	57591	broad.mit.edu	37	22	40804351	40804351	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:40804351C>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.A567V|SGSM3_ENST00000454798.2_Missense_Mutation_p.A500V	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCTGCCCGGCCCTTAAGGCC	0.632			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1699-1701)gCc>gTc		small G protein signaling modulator 3							39.0	39.0	39.0					22																	40804351		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40804351C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40804351C>T						SGSM3_ENST00000454798.2_Missense_Mutation_p.A500V	p.A567V	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			16	1889	+			567			RUN.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1700C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531977	0.64972	.	.	ENSG00000100359	ENST00000248929;ENST00000454798;ENST00000427834	T;T;T	0.36520	1.25;1.25;1.25	4.85	4.85	0.62838	Src homology-3 domain (1);RUN (2);	0.179313	0.48767	D	0.000173	T	0.37652	0.1011	L	0.52126	1.63	0.80722	D	1	B;B;B	0.23650	0.029;0.089;0.016	B;B;B	0.31869	0.065;0.084;0.137	T	0.27088	-1.0084	10	0.52906	T	0.07	.	14.0131	0.64509	0.0:0.8484:0.1516:0.0	.	500;595;567	B4DMS2;Q96HU1-2;Q96HU1	.;.;SGSM3_HUMAN	V	567;500;12	ENSP00000248929:A567V;ENSP00000390998:A500V;ENSP00000407286:A12V	ENSP00000248929:A567V	A	+	2	0	SGSM3	39134297	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.449000	0.66619	2.414000	0.81942	0.407000	0.27541	GCC		0.632	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		16	25	0	0	0	1	0	16	25				
KIAA1244	57221	broad.mit.edu	37	6	138584492	138584492	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:138584492G>A	ENST00000251691.4	+	12	2038	c.1872G>A	c.(1870-1872)agG>agA	p.R624R		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACTCGGGCAGGTCCGACGTGT	0.542																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1870-1872)agG>agA		KIAA1244							155.0	167.0	163.0					6																	138584492		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584492G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1872G>A	6.37:g.138584492G>A							p.R624R	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	2038	+	Breast(32;0.135)		624			SEC7.			Silent	SNP	ENST00000251691.4	37	c.1872G>A	CCDS5189.2																																																																																				0.542	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		20	237	0	0	0	1	0	20	237				
PIGT	51604	broad.mit.edu	37	20	44053201	44053201	+	Missense_Mutation	SNP	G	G	A	rs144072267		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44053201G>A	ENST00000279036.6	+	11	1546	c.1466G>A	c.(1465-1467)aGt>aAt	p.S489N	PIGT_ENST00000372689.5_Missense_Mutation_p.S422N|PIGT_ENST00000341555.5_Missense_Mutation_p.S295N|PIGT_ENST00000543458.2_Missense_Mutation_p.S433N|PIGT_ENST00000545755.1_Missense_Mutation_p.S227N|PIGT_ENST00000535404.1_Missense_Mutation_p.S334N|PIGT_ENST00000279035.9_Missense_Mutation_p.S387N	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	489					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGGGAAGAGAGTCCCCTCTTC	0.577																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1465-1467)aGt>aAt		phosphatidylinositol glycan anchor biosynthesis, class T		G	ASN/SER,ASN/SER,ASN/SER,ASN/SER	1,4405	2.1+/-5.4	0,1,2202	84.0	77.0	79.0		1298,1265,1160,1466	4.6	1.0	20	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense,missense,missense	PIGT	NM_001184728.1,NM_001184729.1,NM_001184730.1,NM_015937.4	46,46,46,46	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	433/523,422/512,387/477,489/579	44053201	1,13005	2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44053201G>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1466G>A	20.37:g.44053201G>A	ENSP00000279036:p.Ser489Asn					PIGT_ENST00000372689.5_Missense_Mutation_p.S422N|PIGT_ENST00000535404.1_Missense_Mutation_p.S334N|PIGT_ENST00000543458.2_Missense_Mutation_p.S433N|PIGT_ENST00000545755.1_Missense_Mutation_p.S227N|PIGT_ENST00000279035.9_Missense_Mutation_p.S387N|PIGT_ENST00000341555.5_Missense_Mutation_p.S295N	p.S489N	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			11	1546	+		Myeloproliferative disorder(115;0.0122)	489					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.1466G>A	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631234	0.46944	2.27E-4	0.0	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.49720	0.8;0.8;0.79;0.8;0.78;0.77;0.77	5.6	4.64	0.57946	.	0.155573	0.64402	D	0.000016	T	0.55909	0.1950	L	0.56769	1.78	0.37652	D	0.922454	P;B;P;P;P;B;B;B;P	0.42010	0.768;0.11;0.688;0.571;0.734;0.302;0.193;0.117;0.505	P;B;B;B;P;B;B;B;B	0.49387	0.609;0.157;0.373;0.312;0.507;0.05;0.049;0.112;0.383	T	0.63686	-0.6581	10	0.52906	T	0.07	-13.1163	14.992	0.71396	0.0:0.0:0.8564:0.1436	.	327;387;334;433;334;278;227;165;489	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7Z1F1;Q969N2-3;B7Z1N3;B7Z4T7;Q969N2	.;.;.;.;.;.;.;.;PIGT_HUMAN	N	433;422;387;489;227;295;334	ENSP00000441577:S433N;ENSP00000361774:S422N;ENSP00000279035:S387N;ENSP00000279036:S489N;ENSP00000443963:S227N;ENSP00000343783:S295N;ENSP00000440528:S334N	ENSP00000279035:S387N	S	+	2	0	PIGT	43486615	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.834000	0.55798	1.348000	0.45733	0.563000	0.77884	AGT		0.577	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		17	18	0	0	0	1	0	17	18				
TIMM17B	10245	broad.mit.edu	37	X	48751400	48751400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:48751400C>T	ENST00000376582.3	-	5	447	c.299G>A	c.(298-300)gGg>gAg	p.G100E	TIMM17B_ENST00000465150.2_Missense_Mutation_p.G150E|TIMM17B_ENST00000495490.2_Missense_Mutation_p.G120E|TIMM17B_ENST00000396779.3_Missense_Mutation_p.G150E|TIMM17B_ENST00000472645.1_5'UTR	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	100					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.G100V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CAGCACAGCCCCGGTCAATGC	0.642																																						ENST00000396779.3																			1	Substitution - Missense(1)	p.G100V(1)	lung(1)	kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(448-450)gGg>gAg		translocase of inner mitochondrial membrane 17 homolog B (yeast)							34.0	33.0	34.0					X																	48751400		2197	4294	6491	SO:0001583	missense	10245				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chrX:48751400C>T	AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.299G>A	X.37:g.48751400C>T	ENSP00000365766:p.Gly100Glu					TIMM17B_ENST00000376582.3_Missense_Mutation_p.G100E|TIMM17B_ENST00000466995.1_5'UTR	p.G150E	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN			6	597	-			100					A8K2E2|J3KPV3|Q9UJV0	Missense_Mutation	SNP	ENST00000376582.3	37	c.449G>A	CCDS14308.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.508184	0.85282	.	.	ENSG00000126768	ENST00000376582;ENST00000396779	T;T	0.73258	-0.73;-0.73	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90607	0.7055	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94325	0.7557	10	0.87932	D	0	-7.3317	16.8878	0.86080	0.0:1.0:0.0:0.0	.	100	O60830	TI17B_HUMAN	E	100;150	ENSP00000365766:G100E;ENSP00000379999:G150E	ENSP00000365766:G100E	G	-	2	0	TIMM17B	48636344	1.000000	0.71417	0.952000	0.39060	0.743000	0.42351	7.468000	0.80943	2.248000	0.74166	0.594000	0.82650	GGG		0.642	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834		9	7	0	0	0	1	0	9	7				
ETV6	2120	broad.mit.edu	37	12	11905405	11905405	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:11905405C>T	ENST00000396373.4	+	2	329	c.55C>T	c.(55-57)Cct>Tct	p.P19S	ETV6_ENST00000544715.1_3'UTR	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	19					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTCATATACACCTCCAGAGAG	0.542			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(55-57)Cct>Tct		ets variant 6							91.0	86.0	87.0					12																	11905405		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:11905405C>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.55C>T	12.37:g.11905405C>T	ENSP00000379658:p.Pro19Ser					ETV6_ENST00000544715.1_3'UTR	p.P19S	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			2	329	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	19					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.55C>T	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754659	0.89843	.	.	ENSG00000139083	ENST00000396373	T	0.09445	2.98	5.73	5.73	0.89815	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	L	0.32530	0.975	0.50171	D	0.999851	D	0.89917	1.0	D	0.80764	0.994	T	0.03887	-1.0995	10	0.10902	T	0.67	.	19.4942	0.95065	0.0:1.0:0.0:0.0	.	19	P41212	ETV6_HUMAN	S	19	ENSP00000379658:P19S	ENSP00000379658:P19S	P	+	1	0	ETV6	11796672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.335000	0.65929	2.708000	0.92522	0.655000	0.94253	CCT		0.542	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		31	70	0	0	0	1	0	31	70				
ELN	2006	broad.mit.edu	37	7	73474714	73474714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:73474714G>A	ENST00000252034.7	+	25	2029	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	ELN_ENST00000380553.4_Missense_Mutation_p.A408T|ELN_ENST00000380576.5_Missense_Mutation_p.A525T|ELN_ENST00000320399.6_Missense_Mutation_p.A544T|ELN_ENST00000320492.7_Missense_Mutation_p.A463T|ELN_ENST00000380584.4_Missense_Mutation_p.A496T|ELN_ENST00000445912.1_Missense_Mutation_p.A544T|ELN_ENST00000414324.1_Missense_Mutation_p.A520T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380562.4_Missense_Mutation_p.A550T|ELN_ENST00000358929.4_Missense_Mutation_p.A579T|ELN_ENST00000429192.1_Missense_Mutation_p.A530T|ELN_ENST00000380575.4_Missense_Mutation_p.A515T|ELN_ENST00000357036.5_Missense_Mutation_p.A549T|ELN_ENST00000458204.1_Missense_Mutation_p.A534T	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AGGAGCTGCAGCTGGGCTTGG	0.627			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1630-1632)Gct>Act		elastin	Rofecoxib(DB00533)						193.0	192.0	192.0					7																	73474714		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474714G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1630G>A	7.37:g.73474714G>A	ENSP00000252034:p.Ala544Thr					ELN_ENST00000445912.1_Missense_Mutation_p.A544T|ELN_ENST00000414324.1_Missense_Mutation_p.A520T|ELN_ENST00000380562.4_Missense_Mutation_p.A550T|ELN_ENST00000380576.5_Missense_Mutation_p.A525T|ELN_ENST00000429192.1_Missense_Mutation_p.A530T|ELN_ENST00000320399.6_Missense_Mutation_p.A544T|ELN_ENST00000357036.5_Missense_Mutation_p.A549T|ELN_ENST00000320492.7_Missense_Mutation_p.A463T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000458204.1_Missense_Mutation_p.A534T|ELN_ENST00000380553.4_Missense_Mutation_p.A408T|ELN_ENST00000380584.4_Missense_Mutation_p.A496T|ELN_ENST00000380575.4_Missense_Mutation_p.A515T|ELN_ENST00000358929.4_Missense_Mutation_p.A579T	p.A544T	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			25	2029	+		Lung NSC(55;0.159)	573			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1630G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378498	0.61735	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38722	1.24;1.22;1.24;1.18;1.18;1.12;1.32;1.43;1.2;1.17;1.23;1.25;1.17;1.24	4.4	4.4	0.53042	.	.	.	.	.	T	0.61451	0.2348	.	.	.	0.35481	D	0.798164	D;D;D;D;D;D;D;D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996	D;D;D;D;D;D;D;D;D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993	T	0.70608	-0.4825	8	0.52906	T	0.07	-6.0252	12.7207	0.57140	0.0:0.0:1.0:0.0	.	544;463;520;534;550;515;530;549;525;408;455;496;544	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	T	544;544;579;463;520;550;515;496;534;549;530;483;408;525;544	ENSP00000389857:A544T;ENSP00000252034:A544T;ENSP00000351807:A579T;ENSP00000315607:A463T;ENSP00000392575:A520T;ENSP00000369936:A550T;ENSP00000369949:A515T;ENSP00000369958:A496T;ENSP00000403162:A534T;ENSP00000349540:A549T;ENSP00000391129:A530T;ENSP00000369926:A408T;ENSP00000369950:A525T;ENSP00000313565:A544T	ENSP00000252034:A544T	A	+	1	0	ELN	73112650	1.000000	0.71417	0.948000	0.38648	0.965000	0.64279	3.422000	0.52749	2.434000	0.82447	0.555000	0.69702	GCT		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		8	90	0	0	0	1	0	8	90				
OR2F1	26211	broad.mit.edu	37	7	143657479	143657479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:143657479G>A	ENST00000392899.1	+	1	453	c.416G>A	c.(415-417)gGg>gAg	p.G139E	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	139					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATGCATGGAGGGCTGTGTGCT	0.557																																						ENST00000392899.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(415-417)gGg>gAg		olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)							150.0	129.0	136.0					7																	143657479		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657479G>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.416G>A	7.37:g.143657479G>A	ENSP00000376633:p.Gly139Glu						p.G139E	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN			1	453	+	Melanoma(164;0.0903)		139					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.416G>A	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	G	3.362	-0.130373	0.06753	.	.	ENSG00000213215	ENST00000392899	T	0.37411	1.2	5.53	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.236824	0.30142	N	0.010307	T	0.40979	0.1139	L	0.41632	1.29	0.09310	N	1	B	0.33883	0.43	P	0.50231	0.635	T	0.36138	-0.9760	10	0.21014	T	0.42	-3.4936	10.5672	0.45179	0.0735:0.2241:0.7023:0.0	.	139	Q13607	OR2F1_HUMAN	E	139	ENSP00000376633:G139E	ENSP00000376633:G139E	G	+	2	0	OR2F1	143288412	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.222000	0.09190	0.465000	0.27167	-2.214000	0.00298	GGG		0.557	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			39	121	0	0	0	1	0	39	121				
SLTM	79811	broad.mit.edu	37	15	59191942	59191942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:59191942G>A	ENST00000380516.2	-	7	871	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	262					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTTTCTAGGAGGTCATCACCA	0.458																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(784-786)Ctc>Ttc		SAFB-like, transcription modulator							167.0	151.0	156.0					15																	59191942		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59191942G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.784C>T	15.37:g.59191942G>A	ENSP00000369887:p.Leu262Phe					SLTM_ENST00000536328.1_Intron	p.L262F	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			7	871	-			262					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.784C>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776440	0.70107	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.89343	-2.5;-2.5	5.69	5.69	0.88448	.	0.000000	0.50627	D	0.000115	D	0.92996	0.7771	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.89031	0.3442	10	0.10111	T	0.7	.	19.7954	0.96478	0.0:0.0:1.0:0.0	.	244;262	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	F	262;244	ENSP00000369887:L262F;ENSP00000249736:L244F	ENSP00000249736:L244F	L	-	1	0	SLTM	56979234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.003000	0.88520	2.685000	0.91497	0.591000	0.81541	CTC		0.458	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		21	98	0	0	0	1	0	21	98				
NLK	51701	broad.mit.edu	37	17	26518085	26518085	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26518085C>T	ENST00000407008.3	+	9	1993	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TAGCCCACCCCTACCTAGATG	0.428																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(1273-1275)ccC>ccT		nemo-like kinase							167.0	134.0	145.0					17																	26518085		2203	4300	6503	SO:0001819	synonymous_variant	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26518085C>T	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1275C>T	17.37:g.26518085C>T							p.P425P	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	9	1993	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		425			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	37	c.1275C>T	CCDS11224.2																																																																																				0.428	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		4	62	0	0	0	1	0	4	62				
VWF	7450	broad.mit.edu	37	12	6103084	6103084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:6103084G>A	ENST00000261405.5	-	37	6796	c.6542C>T	c.(6541-6543)gCc>gTc	p.A2181V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2181					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACAGAGGTGGGCATAAGAGGC	0.552																																						ENST00000261405.5																			0				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						c.(6541-6543)gCc>gTc		von Willebrand factor	Antihemophilic Factor(DB00025)						81.0	67.0	72.0					12																	6103084		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6103084G>A		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.6542C>T	12.37:g.6103084G>A	ENSP00000261405:p.Ala2181Val						p.A2181V	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			37	6796	-			2181					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6542C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463793	0.63513	.	.	ENSG00000110799	ENST00000261405	D	0.82433	-1.61	5.3	5.3	0.74995	Uncharacterised domain, cysteine-rich (2);	0.000000	0.44285	D	0.000471	D	0.86226	0.5882	M	0.71871	2.18	0.80722	D	1	P	0.46784	0.884	P	0.52823	0.71	D	0.85164	0.0994	10	0.37606	T	0.19	.	11.4415	0.50100	0.0816:0.0:0.9184:0.0	.	2181	P04275	VWF_HUMAN	V	2181	ENSP00000261405:A2181V	ENSP00000261405:A2181V	A	-	2	0	VWF	5973345	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	1.924000	0.40065	2.482000	0.83794	0.655000	0.94253	GCC		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	27	0	0	0	1	0	8	27				
MED12	9968	broad.mit.edu	37	X	70349206	70349206	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70349206C>T	ENST00000374080.3	+	26	3650	c.3618C>T	c.(3616-3618)caC>caT	p.H1206H	MED12_ENST00000374102.1_Silent_p.H1206H|MED12_ENST00000333646.6_Silent_p.H1206H			Q93074	MED12_HUMAN	mediator complex subunit 12	1206					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCGACCGCCACCTGCTGGCTG	0.587			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3616-3618)caC>caT		mediator complex subunit 12							51.0	54.0	53.0					X																	70349206		2104	4209	6313	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349206C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3618C>T	X.37:g.70349206C>T			OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Silent_p.H1206H|MED12_ENST00000374080.3_Silent_p.H1206H	p.H1206H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3817	+	Renal(35;0.156)		1206					O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.3618C>T	CCDS43970.1																																																																																				0.587	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	32	0	0	0	1	0	9	32				
TTC7A	57217	broad.mit.edu	37	2	47184012	47184012	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:47184012G>A	ENST00000319190.5	+	3	751	c.383G>A	c.(382-384)gGc>gAc	p.G128D	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.G128D|TTC7A_ENST00000263737.6_5'UTR|RP11-15I20.1_ENST00000607950.1_RNA|TTC7A_ENST00000409245.1_Missense_Mutation_p.G94D	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	128					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTGATCCTGGGCAAACTGCAT	0.547																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(382-384)gGc>gAc		tetratricopeptide repeat domain 7A							170.0	145.0	153.0					2																	47184012		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47184012G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.383G>A	2.37:g.47184012G>A	ENSP00000316699:p.Gly128Asp					TTC7A_ENST00000394850.2_Missense_Mutation_p.G128D|TTC7A_ENST00000409245.1_Missense_Mutation_p.G94D|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR	p.G128D	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	751	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	128					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.383G>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552616	0.86127	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850	T;T;T	0.36157	1.68;1.72;1.27	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);	0.057881	0.64402	D	0.000001	T	0.53126	0.1777	L	0.59436	1.845	0.80722	D	1	D;D;D	0.60160	0.987;0.982;0.977	P;P;P	0.60012	0.784;0.786;0.867	T	0.53151	-0.8479	10	0.87932	D	0	-27.3462	15.1013	0.72279	0.0:0.1423:0.8577:0.0	.	128;128;94	Q2T9J9;Q9ULT0;G5E9G4	.;TTC7A_HUMAN;.	D	94;128;128	ENSP00000386307:G94D;ENSP00000316699:G128D;ENSP00000378320:G128D	ENSP00000316699:G128D	G	+	2	0	TTC7A	47037516	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.715000	0.61909	2.768000	0.95171	0.561000	0.74099	GGC		0.547	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		4	66	0	0	0	1	0	4	66				
CCDC93	54520	broad.mit.edu	37	2	118706898	118706898	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:118706898C>T	ENST00000376300.2	-	14	1279	c.1142G>A	c.(1141-1143)aGt>aAt	p.S381N	CCDC93_ENST00000460781.1_5'Flank|CCDC93_ENST00000319432.5_Splice_Site_p.S380N	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	381										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AACCTCTTACCTTGGATCAGC	0.408																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.e14+1		coiled-coil domain containing 93							232.0	200.0	211.0					2																	118706898		2203	4300	6503	SO:0001630	splice_region_variant	54520							g.chr2:118706898C>T	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1142+1G>A	2.37:g.118706898C>T						CCDC93_ENST00000319432.5_Splice_Site_p.S380_splice	p.S381_splice	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			14	1279	-			381					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Splice_Site	SNP	ENST00000376300.2	37	c.1142_splice	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326186	0.41197	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.18810	2.19;2.19	5.43	3.64	0.41730	.	0.314743	0.39210	N	0.001433	T	0.19725	0.0474	L	0.59436	1.845	0.32394	N	0.552888	B	0.14012	0.009	B	0.15870	0.014	T	0.13710	-1.0499	9	.	.	.	-7.1014	8.9976	0.36061	0.0:0.7739:0.0:0.2261	.	381	Q567U6	CCD93_HUMAN	N	381;380	ENSP00000365477:S381N;ENSP00000324135:S380N	.	S	-	2	0	CCDC93	118423368	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.407000	0.44565	0.860000	0.35481	-0.150000	0.13652	AGT		0.408	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	Missense_Mutation	44	77	0	0	0	1	0	44	77				
DMXL2	23312	broad.mit.edu	37	15	51780755	51780755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:51780755C>T	ENST00000251076.5	-	21	5328	c.5041G>A	c.(5041-5043)Ggt>Agt	p.G1681S	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1045S|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1681S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1681						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			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)		CTAAACAGACCCCACACTACT	0.358																																						ENST00000251076.5																			0				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						c.(5041-5043)Ggt>Agt		Dmx-like 2							147.0	124.0	132.0					15																	51780755		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51780755C>T	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.5041G>A	15.37:g.51780755C>T	ENSP00000251076:p.Gly1681Ser					DMXL2_ENST00000543779.2_Missense_Mutation_p.G1681S|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1045S	p.G1681S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	21	5328	-			1681					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.5041G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523893	0.96431	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.44083	0.93;0.93;0.93	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.97110	0.787;0.998;1.0	T	0.68819	-0.5308	10	0.59425	D	0.04	.	18.7549	0.91828	0.0:1.0:0.0:0.0	.	1681;1045;1681	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	S	1681;1681;1045	ENSP00000251076:G1681S;ENSP00000441858:G1681S;ENSP00000400855:G1045S	ENSP00000251076:G1681S	G	-	1	0	DMXL2	49568047	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.646000	0.83445	2.527000	0.85204	0.585000	0.79938	GGT		0.358	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		30	59	0	0	0	1	0	30	59				
ERCC2	2068	broad.mit.edu	37	19	45855526	45855526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45855526C>T	ENST00000391945.4	-	22	2208	c.2131G>A	c.(2131-2133)Gac>Aac	p.D711N	ERCC2_ENST00000391944.3_Missense_Mutation_p.D633N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	711					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.D711Y(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACACCCTCGTCCACGGTCAGG	0.677			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Missense(1)	p.D711Y(1)	skin(1)	large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(2131-2133)Gac>Aac	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							96.0	72.0	80.0					19																	45855526		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45855526C>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2131G>A	19.37:g.45855526C>T	ENSP00000375809:p.Asp711Asn					ERCC2_ENST00000391944.3_Missense_Mutation_p.D633N	p.D711N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	22	2208	-		Ovarian(192;0.0728)|all_neural(266;0.112)	711					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.2131G>A	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677925	0.88445	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.83250	-1.49;-1.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	M	0.91354	3.2	0.80722	D	1	D;D;D	0.67145	0.993;0.981;0.996	D;D;P	0.69479	0.964;0.917;0.859	D	0.94102	0.7363	10	0.87932	D	0	-31.0857	16.3903	0.83532	0.0:1.0:0.0:0.0	.	633;711;404	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	N	661;687;711;633	ENSP00000375809:D711N;ENSP00000375808:D633N	ENSP00000375805:D661N	D	-	1	0	ERCC2	50547366	1.000000	0.71417	0.368000	0.25939	0.495000	0.33615	6.949000	0.75971	2.461000	0.83175	0.561000	0.74099	GAC		0.677	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		26	40	0	0	0	1	0	26	40				
TRERF1	55809	broad.mit.edu	37	6	42200438	42200438	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:42200438G>A	ENST00000372922.4	-	17	3821	c.3259C>T	c.(3259-3261)Ccc>Tcc	p.P1087S	TRERF1_ENST00000340840.2_Missense_Mutation_p.P1016S|TRERF1_ENST00000541110.1_Missense_Mutation_p.P1107S|TRERF1_ENST00000372917.4_Missense_Mutation_p.P1016S|TRERF1_ENST00000354325.2_Missense_Mutation_p.P1004S	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1087	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTGCAGGGGAAGATGGTG	0.602																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3319-3321)Ccc>Tcc		transcriptional regulating factor 1							51.0	38.0	42.0					6																	42200438		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42200438G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3259C>T	6.37:g.42200438G>A	ENSP00000362013:p.Pro1087Ser					TRERF1_ENST00000372922.4_Missense_Mutation_p.P1087S|TRERF1_ENST00000372917.4_Missense_Mutation_p.P1016S|TRERF1_ENST00000354325.2_Missense_Mutation_p.P1004S|TRERF1_ENST00000340840.2_Missense_Mutation_p.P1016S	p.P1107S			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		17	3887	-	Colorectal(47;0.196)		1087			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.3319C>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267774	0.59540	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.228496	0.30911	N	0.008639	T	0.28134	0.0694	N	0.04994	-0.135	0.58432	D	0.999991	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.497	D;D;D;D;B	0.91635	0.998;0.999;0.999;0.998;0.188	T	0.49551	-0.8928	10	0.62326	D	0.03	-7.8603	19.1891	0.93656	0.0:0.0:1.0:0.0	.	1004;1107;1087;843;855	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	S	1107;1016;1087;1016;1004	ENSP00000439689:P1107S;ENSP00000362008:P1016S;ENSP00000362013:P1087S;ENSP00000339438:P1016S;ENSP00000346285:P1004S	ENSP00000339438:P1016S	P	-	1	0	TRERF1	42308416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.539000	0.82063	2.540000	0.85666	0.460000	0.39030	CCC		0.602	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		8	18	0	0	0	1	0	8	18				
TBL1XR1	79718	broad.mit.edu	37	3	176750758	176750758	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:176750758C>T	ENST00000430069.1	-	14	1676		c.e14+1		TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGAAGACATACCTGCGTGTTC	0.423																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.e14+1		transducin (beta)-like 1 X-linked receptor 1							77.0	74.0	75.0					3																	176750758		1903	4139	6042	SO:0001630	splice_region_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176750758C>T	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1416+1G>A	3.37:g.176750758C>T						TBL1XR1_ENST00000457928.2_Splice_Site				Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		14	1676	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)						D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Splice_Site	SNP	ENST00000430069.1	37		CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329281	0.81690	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	.	.	.	5.13	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9733	0.58525	0.0:0.9213:0.0:0.0787	.	.	.	.	.	-1	.	.	.	-	.	.	TBL1XR1	178233452	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.445000	0.80570	1.292000	0.44672	0.561000	0.74099	.		0.423	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	Intron	3	8	0	0	0	1	0	3	8				
RHNO1	83695	broad.mit.edu	37	12	2997420	2997420	+	Missense_Mutation	SNP	C	C	T	rs374449466		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:2997420C>T	ENST00000489288.2	+	3	664	c.512C>T	c.(511-513)cCc>cTc	p.P171L	TULP3_ENST00000397132.2_5'Flank|RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Missense_Mutation_p.P157L|TULP3_ENST00000448120.2_5'Flank	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1	Q9BSD3	RHNO1_HUMAN	RAD9-HUS1-RAD1 interacting nuclear orphan 1	171					cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725)	chromosome (GO:0005694)|nucleus (GO:0005634)											GAACTCATTCCCCAAGATCAG	0.502																																						ENST00000489288.2																			0											c.(511-513)cCc>cTc		RAD9-HUS1-RAD1 interacting nuclear orphan 1		C		0,4406		0,0,2203	122.0	118.0	119.0			0.8	0.0	12		119	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			2997420	1,13005	2203	4300	6503	SO:0001583	missense	83695							g.chr12:2997420C>T	AK021945	CCDS8518.1, CCDS58199.1	12p13.33	2012-08-23	2012-08-23	2012-08-23	ENSG00000171792	ENSG00000171792			28206	protein-coding gene	gene with protein product	"""Rad9, Rad1, Hus1 interacting nuclear orphan"""	614085	"""chromosome 12 open reading frame 32"""	C12orf32		20811708, 21659603	Standard	NM_001252499		Approved	HKMT1188, MGC13204, RHINO	uc031qfq.1	Q9BSD3	OTTHUMG00000158557	ENST00000489288.2:c.512C>T	12.37:g.2997420C>T	ENSP00000438590:p.Pro171Leu					RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Missense_Mutation_p.P157L	p.P171L	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1					3	664	+								B7Z989	Missense_Mutation	SNP	ENST00000489288.2	37	c.512C>T	CCDS8518.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553866	0.27739	0.0	1.16E-4	ENSG00000171792	ENST00000461997;ENST00000489288	.	.	.	4.69	0.747	0.18371	.	1.172630	0.06044	N	0.655394	T	0.31389	0.0795	.	.	.	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.21546	0.035;0.035	T	0.35919	-0.9769	8	0.87932	D	0	0.3451	3.5318	0.07779	0.426:0.3535:0.1384:0.0822	.	157;171	B7Z989;Q9BSD3	.;RHINO_HUMAN	L	157;171	.	ENSP00000438828:P157L	P	+	2	0	C12orf32	2867681	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	0.543000	0.23237	0.031000	0.15407	0.655000	0.94253	CCC		0.502	RHNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351286.2	NM_031465		12	126	0	0	0	1	0	12	126				
THEG	51298	broad.mit.edu	37	19	362278	362278	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:362278C>T	ENST00000342640.4	-	8	1104	c.1062G>A	c.(1060-1062)agG>agA	p.R354R	THEG_ENST00000346878.2_Silent_p.R330R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	354					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGGGGACGCCTGTCGTATC	0.602																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(1060-1062)agG>agA		theg spermatid protein							164.0	163.0	164.0					19																	362278		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362278C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1062G>A	19.37:g.362278C>T						THEG_ENST00000346878.2_Silent_p.R330R	p.R354R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1104	-		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)	354					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.1062G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	5.444	0.267009	0.10294	.	.	ENSG00000105549	ENST00000530711	.	.	.	4.05	2.95	0.34219	.	.	.	.	.	T	0.44582	0.1300	.	.	.	0.25030	N	0.991272	.	.	.	.	.	.	T	0.37056	-0.9722	5	0.87932	D	0	-23.4181	8.7918	0.34854	0.0:0.7453:0.2547:0.0	.	.	.	.	D	132	.	ENSP00000431699:G132D	G	-	2	0	THEG	313278	0.445000	0.25657	0.107000	0.21349	0.373000	0.29922	1.588000	0.36633	2.088000	0.63022	0.650000	0.86243	GGC		0.602	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			4	110	0	0	0	1	0	4	110				
TLE6	79816	broad.mit.edu	37	19	2993438	2993438	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:2993438C>T	ENST00000246112.4	+	15	1596	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	TLE6_ENST00000452088.1_Silent_p.S342S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	465					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		AGATAATGAGCCTGTCCCACA	0.657																																						ENST00000246112.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10						c.(1393-1395)agC>agT		transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)							37.0	37.0	37.0					19																	2993438		2203	4300	6503	SO:0001819	synonymous_variant	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2993438C>T	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1395C>T	19.37:g.2993438C>T						TLE6_ENST00000452088.1_Silent_p.S342S	p.S465S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1596	+			342					J3KMZ1	Silent	SNP	ENST00000246112.4	37	c.1395C>T	CCDS45910.1																																																																																				0.657	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		3	33	0	0	0	1	0	3	33				
ZNF335	63925	broad.mit.edu	37	20	44589308	44589308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44589308G>A	ENST00000322927.2	-	12	1829	c.1729C>T	c.(1729-1731)Ctc>Ttc	p.L577F	ZNF335_ENST00000426788.1_Missense_Mutation_p.L422F	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	577					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.L577F(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGCTGCGTGAGTCTTTTCTGC	0.587																																						ENST00000322927.2																			1	Substitution - Missense(1)	p.L577F(1)	endometrium(1)	NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1729-1731)Ctc>Ttc		zinc finger protein 335							104.0	106.0	106.0					20																	44589308		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44589308G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1729C>T	20.37:g.44589308G>A	ENSP00000325326:p.Leu577Phe					ZNF335_ENST00000426788.1_Missense_Mutation_p.L422F	p.L577F	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			12	1829	-		Myeloproliferative disorder(115;0.0122)	577					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1729C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049183	0.93740	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.52057	0.68;0.68	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.68128	0.2967	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69098	-0.5235	10	0.59425	D	0.04	-28.8532	18.0038	0.89204	0.0:0.0:1.0:0.0	.	422;577	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	F	577;354;422	ENSP00000325326:L577F;ENSP00000397098:L422F	ENSP00000243961:L354F	L	-	1	0	ZNF335	44022715	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.147000	0.94646	2.740000	0.93945	0.557000	0.71058	CTC		0.587	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		32	41	0	0	0	1	0	32	41				
EGFR	1956	broad.mit.edu	37	7	55259451	55259451	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:55259451G>A	ENST00000275493.2	+	21	2686	c.2509G>A	c.(2509-2511)Gac>Aac	p.D837N	EGFR_ENST00000454757.2_Missense_Mutation_p.D784N|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.D792N|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	837	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGTGCACCGCGACCTGGCAGC	0.542		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2509-2511)Gac>Aac		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						115.0	99.0	104.0					7																	55259451		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259451G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2509G>A	7.37:g.55259451G>A	ENSP00000275493:p.Asp837Asn	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.D792N|EGFR_ENST00000454757.2_Missense_Mutation_p.D784N	p.D837N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2686	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		837			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2509G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242098	0.79912	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.80123	-1.34;-1.34;-1.34	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91781	0.7400	H	0.94964	3.605	0.80722	D	1	D;D	0.71674	0.991;0.998	P;P	0.62184	0.594;0.899	D	0.91415	0.5154	10	0.32370	T	0.25	.	18.6604	0.91470	0.0:0.0:1.0:0.0	.	792;837	Q504U8;P00533	.;EGFR_HUMAN	N	792;707;837;784	ENSP00000415559:D792N;ENSP00000275493:D837N;ENSP00000395243:D784N	ENSP00000275493:D837N	D	+	1	0	EGFR	55226945	1.000000	0.71417	0.964000	0.40570	0.992000	0.81027	9.704000	0.98716	2.751000	0.94390	0.650000	0.86243	GAC		0.542	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		32	88	0	0	0	1	0	32	88				
ATP9B	374868	broad.mit.edu	37	18	77107902	77107902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:77107902G>A	ENST00000426216.2	+	24	2832	c.2815G>A	c.(2815-2817)Ggc>Agc	p.G939S	ATP9B_ENST00000307671.7_Missense_Mutation_p.G939S|ATP9B_ENST00000543761.1_Missense_Mutation_p.G260S	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	939					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CATGCACAGGGGCCTTATCAT	0.637																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(2815-2817)Ggc>Agc		ATPase, class II, type 9B							57.0	56.0	56.0					18																	77107902		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77107902G>A	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2815G>A	18.37:g.77107902G>A	ENSP00000398076:p.Gly939Ser					ATP9B_ENST00000543761.1_Missense_Mutation_p.G260S|ATP9B_ENST00000307671.7_Missense_Mutation_p.G939S	p.G939S	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	24	2832	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	939					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.2815G>A	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531828	0.64972	.	.	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	D;D;D	0.88046	-2.33;-2.33;-2.33	5.1	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	M	0.76433	2.335	0.80722	D	1	B;P;P;P	0.47302	0.312;0.712;0.828;0.893	B;B;B;P	0.47015	0.136;0.437;0.333;0.534	D	0.88000	0.2755	10	0.45353	T	0.12	.	13.5704	0.61843	0.0748:0.0:0.9252:0.0	.	312;260;939;939	B3KSI8;F5H8J1;O43861;O43861-2	.;.;ATP9B_HUMAN;.	S	939;939;260	ENSP00000398076:G939S;ENSP00000304500:G939S;ENSP00000442015:G260S	ENSP00000304500:G939S	G	+	1	0	ATP9B	75208890	1.000000	0.71417	0.993000	0.49108	0.609000	0.37215	6.024000	0.70857	1.155000	0.42497	-0.140000	0.14226	GGC		0.637	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		15	6	0	0	0	1	0	15	6				
CYP4B1	1580	broad.mit.edu	37	1	47284474	47284474	+	Silent	SNP	G	G	A	rs374571859		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:47284474G>A	ENST00000271153.4	+	12	1560	c.1524G>A	c.(1522-1524)ggG>ggA	p.G508G	CYP4B1_ENST00000452782.2_Silent_p.G346G|CYP4B1_ENST00000371919.4_Silent_p.G494G|CYP4B1_ENST00000371923.4_Silent_p.G509G			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	508					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGGGCCCTGGGTCTGGGAAGT	0.627																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1522-1524)ggG>ggA		cytochrome P450, family 4, subfamily B, polypeptide 1							62.0	61.0	61.0					1																	47284474		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47284474G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1524G>A	1.37:g.47284474G>A						CYP4B1_ENST00000452782.2_Silent_p.G346G|CYP4B1_ENST00000371919.4_Silent_p.G494G|CYP4B1_ENST00000371923.4_Silent_p.G509G	p.G508G			P13584	CP4B1_HUMAN			12	1560	+	Acute lymphoblastic leukemia(166;0.155)		508					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.1524G>A	CCDS542.1																																																																																				0.627	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		17	43	0	0	0	1	0	17	43				
ENOPH1	58478	broad.mit.edu	37	4	83378147	83378147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83378147G>A	ENST00000273920.3	+	5	870	c.602G>A	c.(601-603)gGg>gAg	p.G201E	ENOPH1_ENST00000509635.1_Missense_Mutation_p.G113E	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GACAGCATTGGGTGCTCAACC	0.403																																						ENST00000273920.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(601-603)gGg>gAg		enolase-phosphatase 1							167.0	161.0	163.0					4																	83378147		2203	4300	6503	SO:0001583	missense	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83378147G>A		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.602G>A	4.37:g.83378147G>A	ENSP00000273920:p.Gly201Glu					ENOPH1_ENST00000509635.1_Missense_Mutation_p.G113E	p.G201E	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN			5	870	+			201						Missense_Mutation	SNP	ENST00000273920.3	37	c.602G>A	CCDS3594.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	21.3|21.3	4.123282|4.123282	0.77436|0.77436	.|.	.|.	ENSG00000145293|ENSG00000145293	ENST00000273920;ENST00000509635|ENST00000456931	T;T|.	0.08807|.	3.05;3.05|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76212|.	0.3956|.	M|M	0.71296|0.71296	2.17|2.17	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.59424|.	0.857|.	T|.	0.74535|.	-0.3633|.	10|.	0.45353|0.40728	T|T	0.12|0.16	-29.4083|-29.4083	19.4755|19.4755	0.94985|0.94985	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	201|.	Q9UHY7|.	ENOPH_HUMAN|.	E|X	201;113|200	ENSP00000273920:G201E;ENSP00000422005:G113E|.	ENSP00000273920:G201E|ENSP00000408959:W200X	G|W	+|+	2|3	0|0	ENOPH1|ENOPH1	83597171|83597171	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.576000|0.576000	0.36127|0.36127	9.596000|9.596000	0.98267|0.98267	2.672000|2.672000	0.90937|0.90937	0.585000|0.585000	0.79938|0.79938	GGG|TGG		0.403	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		8	97	0	0	0	1	0	8	97				
HELB	92797	broad.mit.edu	37	12	66707937	66707937	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:66707937A>G	ENST00000247815.4	+	5	1911	c.1852A>G	c.(1852-1854)Atc>Gtc	p.I618V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	618					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAAGCTTATTATCCTTGGTAA	0.338																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1852-1854)Atc>Gtc		helicase (DNA) B							144.0	144.0	144.0					12																	66707937		2202	4300	6502	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66707937A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1852A>G	12.37:g.66707937A>G	ENSP00000247815:p.Ile618Val						p.I618V	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	5	1911	+			618					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1852A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.131017	0.37630	.	.	ENSG00000127311	ENST00000247815	T	0.53423	0.62	5.82	2.04	0.26737	.	0.060466	0.64402	N	0.000005	T	0.36054	0.0953	L	0.42744	1.35	0.31908	N	0.615039	B	0.20550	0.046	B	0.26094	0.066	T	0.33803	-0.9854	9	.	.	.	-7.7505	7.9346	0.29923	0.7803:0.1204:0.0993:0.0	.	618	Q8NG08	HELB_HUMAN	V	618	ENSP00000247815:I618V	.	I	+	1	0	HELB	64994204	0.920000	0.31207	0.790000	0.31976	0.991000	0.79684	1.039000	0.30266	0.117000	0.18138	0.528000	0.53228	ATC		0.338	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			22	63	0	0	0	1	0	22	63				
MYH4	4622	broad.mit.edu	37	17	10352252	10352252	+	Missense_Mutation	SNP	G	G	A	rs551169093		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:10352252G>A	ENST00000255381.2	-	31	4404	c.4294C>T	c.(4294-4296)Ctc>Ttc	p.L1432F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1432					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAATCATGAGGTCCTCTACT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20253	0.0		0.0	False		,,,				2504	0.0					ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4294-4296)Ctc>Ttc		myosin, heavy chain 4, skeletal muscle							103.0	94.0	97.0					17																	10352252		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352252G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4294C>T	17.37:g.10352252G>A	ENSP00000255381:p.Leu1432Phe					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L1432F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			31	4404	-			1432						Missense_Mutation	SNP	ENST00000255381.2	37	c.4294C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464886	0.84425	.	.	ENSG00000141048	ENST00000255381	T	0.80994	-1.44	5.11	5.11	0.69529	Myosin tail (1);	0.000000	0.33309	U	0.005056	D	0.91891	0.7433	M	0.91717	3.235	0.58432	D	0.999997	D	0.59767	0.986	D	0.69824	0.966	D	0.93520	0.6860	10	0.87932	D	0	.	18.8931	0.92413	0.0:0.0:1.0:0.0	.	1432	Q9Y623	MYH4_HUMAN	F	1432	ENSP00000255381:L1432F	ENSP00000255381:L1432F	L	-	1	0	MYH4	10292977	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.961000	0.87903	2.553000	0.86117	0.555000	0.69702	CTC		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		9	51	0	0	0	1	0	9	51				
ADAM21	8747	broad.mit.edu	37	14	70924230	70924230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:70924230G>A	ENST00000603540.1	+	2	272	c.14G>A	c.(13-15)gGg>gAg	p.G5E	ADAM21_ENST00000267499.3_Missense_Mutation_p.G5E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	5					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCAGTGGATGGGACCCTCGTG	0.532																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(13-15)gGg>gAg		ADAM metallopeptidase domain 21							74.0	89.0	84.0					14																	70924230		2203	4296	6499	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924230G>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.14G>A	14.37:g.70924230G>A	ENSP00000474385:p.Gly5Glu					RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.G5E	p.G5E	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	272	+			5					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.14G>A	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	4.215	0.038672	0.08148	.	.	ENSG00000139985	ENST00000267499	T	0.01015	5.44	3.77	1.45	0.22620	.	0.463226	0.15866	N	0.240747	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46789	-0.9166	10	0.02654	T	1	.	6.1167	0.20130	0.6738:0.0:0.3262:0.0	.	5	Q9UKJ8	ADA21_HUMAN	E	5	ENSP00000267499:G5E	ENSP00000267499:G5E	G	+	2	0	ADAM21	69993983	0.070000	0.21116	0.006000	0.13384	0.003000	0.03518	0.733000	0.26087	0.621000	0.30232	-0.471000	0.05019	GGG		0.532	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			4	89	0	0	0	1	0	4	89				
WDR6	11180	broad.mit.edu	37	3	49050584	49050584	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49050584G>A	ENST00000608424.1	+	2	1656	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Silent_p.G488G|WDR6_ENST00000395474.3_Silent_p.G569G			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	539					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTGGTGCTGGGGCACCTGTAG	0.637																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1705-1707)ggG>ggA		WD repeat domain 6							41.0	34.0	36.0					3																	49050584		2203	4299	6502	SO:0001819	synonymous_variant	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050584G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1617G>A	3.37:g.49050584G>A						WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.G488G	p.G569G	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1987	+			539					B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	ENST00000608424.1	37	c.1707G>A																																																																																					0.637	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			4	43	0	0	0	1	0	4	43				
PYGL	5836	broad.mit.edu	37	14	51378490	51378490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:51378490C>T	ENST00000216392.7	-	16	2259	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	PYGL_ENST00000532462.1_Missense_Mutation_p.V643I|PYGL_ENST00000544180.2_Missense_Mutation_p.V609I|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	643					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AAGAAGATGACTTTCAACTTG	0.448																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1927-1929)Gtc>Atc		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						98.0	89.0	92.0					14																	51378490		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51378490C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1927G>A	14.37:g.51378490C>T	ENSP00000216392:p.Val643Ile					PYGL_ENST00000544180.2_Missense_Mutation_p.V609I|PYGL_ENST00000532462.1_Missense_Mutation_p.V643I	p.V643I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			16	2259	-	all_epithelial(31;0.00825)|Breast(41;0.148)		643					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.1927G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852140	0.51270	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.95272	-3.66;-3.66;-3.54	5.78	1.76	0.24704	.	0.225081	0.45606	D	0.000354	D	0.93187	0.7830	L	0.55990	1.75	0.43890	D	0.996518	B;B;B	0.15141	0.009;0.012;0.004	B;B;B	0.30316	0.069;0.114;0.056	D	0.87660	0.2534	10	0.59425	D	0.04	-12.7794	17.5437	0.87855	0.0:0.4997:0.5003:0.0	.	609;609;643	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	I	643;609;643	ENSP00000431657:V643I;ENSP00000443787:V609I;ENSP00000216392:V643I	ENSP00000216392:V643I	V	-	1	0	PYGL	50448240	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.584000	0.36589	0.055000	0.16094	-0.282000	0.10007	GTC		0.448	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		16	86	0	0	0	1	0	16	86				
KRIT1	889	broad.mit.edu	37	7	91864138	91864138	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:91864138T>C	ENST00000340022.2	-	9	1847	c.829A>G	c.(829-831)Agt>Ggt	p.S277G	KRIT1_ENST00000394505.2_Missense_Mutation_p.S277G|KRIT1_ENST00000394507.1_Missense_Mutation_p.S277G|KRIT1_ENST00000412043.2_Missense_Mutation_p.S277G|KRIT1_ENST00000394503.2_Missense_Mutation_p.S277G	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	277					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTGTGACACTGCTCATGCTT	0.323																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(829-831)Agt>Ggt		KRIT1, ankyrin repeat containing							160.0	147.0	151.0					7																	91864138		2203	4300	6503	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91864138T>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.829A>G	7.37:g.91864138T>C	ENSP00000344668:p.Ser277Gly					KRIT1_ENST00000340022.2_Missense_Mutation_p.S277G|KRIT1_ENST00000412043.2_Missense_Mutation_p.S277G|KRIT1_ENST00000394505.2_Missense_Mutation_p.S277G|KRIT1_ENST00000394503.2_Missense_Mutation_p.S277G	p.S277G	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		10	1612	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		277					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.829A>G	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082483	0.36758	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000445516	T;T;T;T;T;T	0.73258	0.79;0.79;0.79;0.79;-0.73;0.72	5.14	5.14	0.70334	.	0.086866	0.85682	D	0.000000	T	0.65439	0.2691	L	0.47190	1.495	0.51012	D	0.999909	B;B;B	0.26318	0.146;0.001;0.146	B;B;B	0.24974	0.057;0.001;0.057	T	0.65051	-0.6262	10	0.52906	T	0.07	-0.3524	14.9547	0.71104	0.0:0.0:0.0:1.0	.	277;277;277	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	G	277;277;277;277;277;277;39	ENSP00000378015:S277G;ENSP00000344668:S277G;ENSP00000410909:S277G;ENSP00000378013:S277G;ENSP00000378011:S277G;ENSP00000404084:S39G	ENSP00000344668:S277G	S	-	1	0	KRIT1	91702074	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.975000	0.56859	1.921000	0.55644	0.383000	0.25322	AGT		0.323	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			20	76	0	0	0	1	0	20	76				
MDN1	23195	broad.mit.edu	37	6	90405565	90405565	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:90405565C>T	ENST00000369393.3	-	61	9645	c.9530G>A	c.(9529-9531)gGc>gAc	p.G3177D	MDN1_ENST00000428876.1_Missense_Mutation_p.G3177D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3177					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGTGTCTGGCCCACATGCTG	0.617																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(9529-9531)gGc>gAc		MDN1, midasin homolog (yeast)							38.0	38.0	38.0					6																	90405565		2203	4299	6502	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90405565C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9530G>A	6.37:g.90405565C>T	ENSP00000358400:p.Gly3177Asp					MDN1_ENST00000428876.1_Missense_Mutation_p.G3177D	p.G3177D			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	61	9645	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3177					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.9530G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	7.707	0.694342	0.15039	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02944	4.1;4.1	5.19	1.33	0.21861	.	0.732209	0.13450	N	0.386996	T	0.00440	0.0014	N	0.14661	0.345	0.22684	N	0.998851	B	0.06786	0.001	B	0.06405	0.002	T	0.44847	-0.9301	10	0.12430	T	0.62	.	1.3115	0.02099	0.267:0.4017:0.1172:0.214	.	3177	Q9NU22	MDN1_HUMAN	D	3177	ENSP00000358400:G3177D;ENSP00000413970:G3177D	ENSP00000358400:G3177D	G	-	2	0	MDN1	90462286	0.978000	0.34361	0.935000	0.37517	0.541000	0.35023	0.567000	0.23608	-0.042000	0.13535	0.655000	0.94253	GGC		0.617	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			14	40	0	0	0	1	0	14	40				
CCDC64	92558	broad.mit.edu	37	12	120502626	120502626	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120502626G>A	ENST00000397558.2	+	4	852	c.852G>A	c.(850-852)gaG>gaA	p.E284E	CCDC64_ENST00000446727.2_Silent_p.E28E	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	284					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACCGTGGAGGAGCTACAGG	0.552																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(850-852)gaG>gaA		coiled-coil domain containing 64							151.0	154.0	153.0					12																	120502626		1946	4138	6084	SO:0001819	synonymous_variant	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120502626G>A	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.852G>A	12.37:g.120502626G>A						CCDC64_ENST00000446727.2_Silent_p.E28E	p.E284E	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			4	852	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		284					A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	c.852G>A	CCDS41845.1																																																																																				0.552	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		55	111	0	0	0	1	0	55	111				
HMGCS2	3158	broad.mit.edu	37	1	120306837	120306837	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:120306837G>A	ENST00000369406.3	-	2	566	c.517C>T	c.(517-519)Ctc>Ttc	p.L173F	HMGCS2_ENST00000544913.2_Missense_Mutation_p.L173F|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	173					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GCATTGAAGAGGGAGGCAGTA	0.483																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(517-519)Ctc>Ttc		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							107.0	92.0	97.0					1																	120306837		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120306837G>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.517C>T	1.37:g.120306837G>A	ENSP00000358414:p.Leu173Phe					HMGCS2_ENST00000544913.2_Missense_Mutation_p.L173F|HMGCS2_ENST00000476640.1_5'UTR	p.L173F	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	2	566	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	173					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.517C>T	CCDS905.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661550	0.88154	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.93547	-3.24;-3.24	5.04	5.04	0.67666	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.56097	D	0.000031	D	0.96402	0.8826	M	0.84082	2.675	0.80722	D	1	P;D	0.71674	0.939;0.998	P;D	0.70716	0.56;0.97	D	0.96555	0.9411	10	0.62326	D	0.03	-1.6095	17.3277	0.87253	0.0:0.0:1.0:0.0	.	173;173	B7Z8R3;P54868	.;HMCS2_HUMAN	F	173	ENSP00000358414:L173F;ENSP00000439495:L173F	ENSP00000358414:L173F	L	-	1	0	HMGCS2	120108360	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.196000	0.72094	2.497000	0.84241	0.650000	0.86243	CTC		0.483	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		5	50	0	0	0	1	0	5	50				
POLE	5426	broad.mit.edu	37	12	133201326	133201326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:133201326G>A	ENST00000320574.5	-	49	6861	c.6818C>T	c.(6817-6819)aCc>aTc	p.T2273I	POLE_ENST00000535270.1_Missense_Mutation_p.T2246I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2273					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCACTCCAGGGTCTCCAGGAG	0.612								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(6817-6819)aCc>aTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							82.0	83.0	82.0					12																	133201326		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133201326G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6818C>T	12.37:g.133201326G>A	ENSP00000322570:p.Thr2273Ile					POLE_ENST00000535270.1_Missense_Mutation_p.T2246I	p.T2273I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	49	6861	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2273					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.6818C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331646	0.41297	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02737	4.18;4.18;4.18	4.89	1.7	0.24286	.	0.285116	0.38436	N	0.001689	T	0.03178	0.0093	L	0.48174	1.505	0.45087	D	0.998109	B;B	0.12630	0.0;0.006	B;B	0.15052	0.002;0.012	T	0.45086	-0.9285	10	0.39692	T	0.17	.	8.3036	0.32029	0.1541:0.0:0.7153:0.1306	.	2273;483	Q07864;B3KS74	DPOE1_HUMAN;.	I	483;2273;2284;243;2246	ENSP00000322570:T2273I;ENSP00000406383:T2284I;ENSP00000445753:T2246I	ENSP00000322473:T243I	T	-	2	0	POLE	131711399	1.000000	0.71417	0.959000	0.39883	0.873000	0.50193	4.295000	0.59049	0.606000	0.29965	0.561000	0.74099	ACC		0.612	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		8	67	0	0	0	1	0	8	67				
INPPL1	3636	broad.mit.edu	37	11	71944012	71944012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:71944012C>T	ENST00000298229.2	+	16	2149	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	INPPL1_ENST00000538751.1_Nonsense_Mutation_p.R407*|INPPL1_ENST00000541756.1_Nonsense_Mutation_p.R407*	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	649					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)			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						GGTCTTCCTTCGATTCAGTGA	0.572																																						ENST00000298229.2																			0				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						c.(1945-1947)Cga>Tga		inositol polyphosphate phosphatase-like 1							102.0	100.0	101.0					11																	71944012		2200	4293	6493	SO:0001587	stop_gained	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71944012C>T	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.1945C>T	11.37:g.71944012C>T	ENSP00000298229:p.Arg649*					INPPL1_ENST00000541756.1_Nonsense_Mutation_p.R407*|INPPL1_ENST00000538751.1_Nonsense_Mutation_p.R407*	p.R649*	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			16	2149	+			649					B2RTX5|Q13577|Q13578	Nonsense_Mutation	SNP	ENST00000298229.2	37	c.1945C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	46	12.562363	0.99678	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	.	.	.	5.33	2.15	0.27550	.	0.147589	0.45606	D	0.000350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.9516	0.58403	0.4105:0.5895:0.0:0.0	.	.	.	.	X	649;407;407	.	ENSP00000298229:R649X	R	+	1	2	INPPL1	71621660	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	2.348000	0.44045	0.686000	0.31488	0.655000	0.94253	CGA		0.572	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		11	28	0	0	0	1	0	11	28				
NUP188	23511	broad.mit.edu	37	9	131730926	131730926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:131730926G>A	ENST00000372577.2	+	9	748	c.727G>A	c.(727-729)Gga>Aga	p.G243R		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	243					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TAAAGAGCAAGGATTTGGTAG	0.403																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(727-729)Gga>Aga		nucleoporin 188kDa							188.0	171.0	177.0					9																	131730926		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131730926G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.727G>A	9.37:g.131730926G>A	ENSP00000361658:p.Gly243Arg						p.G243R	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			9	748	+			243					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.727G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027804	0.93518	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.33216	1.42	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.30822	-0.9965	10	0.46703	T	0.11	-14.2521	18.8285	0.92128	0.0:0.0:1.0:0.0	.	243	Q5SRE5	NU188_HUMAN	R	132;243	ENSP00000361658:G243R	ENSP00000349125:G132R	G	+	1	0	NUP188	130770747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.172000	0.94808	2.763000	0.94921	0.563000	0.77884	GGA		0.403	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			6	104	0	0	0	1	0	6	104				
SKIDA1	387640	broad.mit.edu	37	10	21805122	21805122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:21805122C>T	ENST00000449193.2	-	4	3882	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	SKIDA1_ENST00000444772.3_Missense_Mutation_p.E465K	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	463						nucleus (GO:0005634)											TTCCTTATCTCAGCGAAACAA	0.532																																						ENST00000449193.2																			0											c.(1630-1632)Gag>Aag		SKI/DACH domain containing 1							55.0	59.0	58.0					10																	21805122		1988	4171	6159	SO:0001583	missense	387640							g.chr10:21805122C>T	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1630G>A	10.37:g.21805122C>T	ENSP00000410041:p.Glu544Lys					SKIDA1_ENST00000444772.3_Missense_Mutation_p.E465K	p.E544K	NM_207371.3	NP_997254.3					4	3882	-								B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.1630G>A	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385948	0.61956	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.29908	0.895	0.42957	D	0.994391	P	0.52842	0.956	P	0.47528	0.549	T	0.59952	-0.7357	9	0.62326	D	0.03	-7.9205	18.8917	0.92407	0.0:1.0:0.0:0.0	.	544	E9PAX1	.	K	544;465	.	ENSP00000442432:E465K	E	-	1	0	C10orf140	21845128	0.989000	0.36119	0.967000	0.41034	0.931000	0.56810	2.827000	0.48112	2.712000	0.92718	0.650000	0.86243	GAG		0.532	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		18	66	0	0	0	1	0	18	66				
CTBP2	1488	broad.mit.edu	37	10	126682486	126682486	+	Silent	SNP	T	T	C	rs76949963	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:126682486T>C	ENST00000337195.5	-	8	1248	c.849A>G	c.(847-849)caA>caG	p.Q283Q	CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000309035.6_Silent_p.Q823Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2467-2469)caA>caG		C-terminal binding protein 2							94.0	97.0	96.0					10																	126682486		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682486T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.849A>G	10.37:g.126682486T>C						CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q	p.Q823Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2599	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	283					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2469A>G	CCDS7643.1																																																																																				0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	81	0	0	0	1	0	5	81				
MUC17	140453	broad.mit.edu	37	7	100684013	100684013	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100684013C>T	ENST00000306151.4	+	3	9380	c.9316C>T	c.(9316-9318)Cca>Tca	p.P3106S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3106	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGCACTCCATTAACAGG	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9316-9318)Cca>Tca		mucin 17, cell surface associated							274.0	277.0	276.0					7																	100684013		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684013C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9316C>T	7.37:g.100684013C>T	ENSP00000302716:p.Pro3106Ser						p.P3106S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9380	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3106			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9316C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	12.87	2.068513	0.36470	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	1.15	-1.39	0.08997	.	.	.	.	.	T	0.08447	0.0210	L	0.32530	0.975	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.18493	-1.0335	9	0.06891	T	0.86	.	2.6584	0.05019	0.0:0.3549:0.2702:0.3749	.	3106	Q685J3	MUC17_HUMAN	S	3106	ENSP00000302716:P3106S	ENSP00000302716:P3106S	P	+	1	0	MUC17	100470733	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.821000	0.04452	-0.349000	0.08274	0.121000	0.15741	CCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		31	579	0	0	0	1	0	31	579				
RAPGEF2	9693	broad.mit.edu	37	4	160267950	160267950	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:160267950A>G	ENST00000264431.4	+	19	3448	c.3029A>G	c.(3028-3030)aAt>aGt	p.N1010S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1010					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTGCCTAAGAATCCTGGTGAC	0.443																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(3028-3030)aAt>aGt		Rap guanine nucleotide exchange factor (GEF) 2							97.0	103.0	101.0					4																	160267950		1897	4131	6028	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160267950A>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3029A>G	4.37:g.160267950A>G	ENSP00000264431:p.Asn1010Ser						p.N1010S	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	19	3448	+	all_hematologic(180;0.24)		1010					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3029A>G	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.927968|1.927968	0.34002|0.34002	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.26518	.|1.73	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Ras guanine nucleotide exchange factor, domain (1);	.|0.040432	.|0.85682	.|D	.|0.000000	T|T	0.22859|0.22859	0.0552|0.0552	L|L	0.39898|0.39898	1.24|1.24	0.52501|0.52501	D|D	0.999957|0.999957	.|B	.|0.12013	.|0.005	.|B	.|0.10450	.|0.005	T|T	0.03278|0.03278	-1.1053|-1.1053	5|10	.|0.31617	.|T	.|0.26	.|.	13.2295|13.2295	0.59933|0.59933	0.8677:0.1323:0.0:0.0|0.8677:0.1323:0.0:0.0	.|.	.|1010	.|Q9Y4G8	.|RPGF2_HUMAN	V|S	42|1010	.|ENSP00000264431:N1010S	.|ENSP00000264431:N1010S	I|N	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160487400|160487400	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.947000|0.947000	0.59692|0.59692	4.576000|4.576000	0.60915|0.60915	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.443	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		47	19	0	0	0	1	0	47	19				
KIAA0895	23366	broad.mit.edu	37	7	36396834	36396834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36396834G>A	ENST00000297063.6	-	3	594	c.544C>T	c.(544-546)Cct>Tct	p.P182S	KIAA0895_ENST00000415803.2_Missense_Mutation_p.P169S|KIAA0895_ENST00000317020.6_Missense_Mutation_p.P131S|KIAA0895_ENST00000338533.5_Missense_Mutation_p.P169S|KIAA0895_ENST00000436884.1_Missense_Mutation_p.P31S|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.P131S	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	182										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AACTTTACAGGACTTGACACT	0.493																																						ENST00000317020.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(391-393)Cct>Tct		KIAA0895							96.0	92.0	94.0					7																	36396834		1961	4152	6113	SO:0001583	missense	23366							g.chr7:36396834G>A	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.544C>T	7.37:g.36396834G>A	ENSP00000297063:p.Pro182Ser					KIAA0895_ENST00000440378.1_Missense_Mutation_p.P131S|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000338533.5_Missense_Mutation_p.P169S|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000297063.6_Missense_Mutation_p.P182S|KIAA0895_ENST00000436884.1_Missense_Mutation_p.P31S|KIAA0895_ENST00000415803.2_Missense_Mutation_p.P169S	p.P131S	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN			2	691	-			182					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.391C>T	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	G	8.957	0.969705	0.18659	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000415803	.	.	.	5.89	2.7	0.31948	.	0.460907	0.24769	N	0.035745	T	0.18759	0.0450	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B;B	0.31227	0.314;0.004;0.002;0.28;0.006;0.008;0.008	B;B;B;B;B;B;B	0.32289	0.046;0.003;0.002;0.143;0.009;0.013;0.007	T	0.09292	-1.0681	9	0.13470	T	0.59	-15.1871	3.2459	0.06797	0.0793:0.2064:0.3619:0.3524	.	131;131;31;169;182;169;131	B4DGN6;B7ZLT4;B4DF35;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;.;K0895_HUMAN;.;.	S	182;169;131;131;31;169	.	ENSP00000297063:P182S	P	-	1	0	KIAA0895	36363359	0.985000	0.35326	1.000000	0.80357	0.987000	0.75469	1.416000	0.34759	1.502000	0.48669	0.563000	0.77884	CCT		0.493	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		38	146	0	0	0	1	0	38	146				
DCUN1D3	123879	broad.mit.edu	37	16	20871331	20871331	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:20871331C>T	ENST00000324344.4	-	3	1077	c.792G>A	c.(790-792)gaG>gaA	p.E264E	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.E264E	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	264	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TTGGCCAGGCCTCATCTTCAC	0.552																																						ENST00000324344.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14						c.(790-792)gaG>gaA		DCN1, defective in cullin neddylation 1, domain containing 3							79.0	73.0	75.0					16																	20871331		2201	4300	6501	SO:0001819	synonymous_variant	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20871331C>T	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.792G>A	16.37:g.20871331C>T						DCUN1D3_ENST00000563934.1_Silent_p.E264E|ERI2_ENST00000564349.1_Intron	p.E264E	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	3	1077	-			264			DCUN1.		B3KVY4	Silent	SNP	ENST00000324344.4	37	c.792G>A	CCDS10592.1																																																																																				0.552	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		25	53	0	0	0	1	0	25	53				
PUM1	9698	broad.mit.edu	37	1	31478776	31478776	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:31478776C>T	ENST00000257075.5	-	5	737	c.644G>A	c.(643-645)gGg>gAg	p.G215E	PUM1_ENST00000373742.2_Intron|PUM1_ENST00000426105.2_Missense_Mutation_p.G215E|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Missense_Mutation_p.G251E|PUM1_ENST00000373747.3_Missense_Mutation_p.G215E|PUM1_ENST00000440538.2_Missense_Mutation_p.G215E|PUM1_ENST00000423018.2_Intron	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	215					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)			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)		GCCTAGTCCCCCACTCTCCGA	0.498																																						ENST00000373747.3																			0				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						c.(643-645)gGg>gAg		pumilio RNA-binding family member 1							121.0	118.0	119.0					1																	31478776		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31478776C>T	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.644G>A	1.37:g.31478776C>T	ENSP00000257075:p.Gly215Glu					PUM1_ENST00000440538.2_Missense_Mutation_p.G215E|PUM1_ENST00000257075.5_Missense_Mutation_p.G215E|PUM1_ENST00000426105.2_Missense_Mutation_p.G215E|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000373741.4_Missense_Mutation_p.G251E	p.G215E	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	5	743	-		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)	215					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.644G>A	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.194613|4.194613	0.78902|0.78902	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000543952|ENST00000525843	T;T;T;T;T|.	0.26957|.	1.7;2.0;1.99;1.9;1.97|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76870|.	0.4048|.	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.974;1.0;1.0;1.0|.	D;P;D;D;D|.	0.97110|.	1.0;0.747;1.0;1.0;1.0|.	T|.	0.74372|.	-0.3687|.	10|.	0.87932|.	D|.	0|.	-5.3077|-5.3077	20.0637|20.0637	0.97700|0.97700	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	251;215;215;215;215|.	Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4|.	.;.;PUM1_HUMAN;.;.|.	E|X	215;215;215;215;251;215|231	ENSP00000257075:G215E;ENSP00000362852:G215E;ENSP00000391723:G215E;ENSP00000401777:G215E;ENSP00000362846:G251E|.	ENSP00000257075:G215E|.	G|W	-|-	2|3	0|0	PUM1|PUM1	31251363|31251363	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	6.050000|6.050000	0.71063|0.71063	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.498	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			17	35	0	0	0	1	0	17	35				
DENND3	22898	broad.mit.edu	37	8	142161732	142161732	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:142161732C>T	ENST00000262585.2	+	7	908	c.630C>T	c.(628-630)atC>atT	p.I210I	DENND3_ENST00000519811.1_Silent_p.I290I|DENND3_ENST00000424248.1_Silent_p.I210I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	210	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)			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)			TGACATGCATCCTGACGGAAC	0.547																																						ENST00000519811.1																			0				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						c.(868-870)atC>atT		DENN/MADD domain containing 3							127.0	103.0	111.0					8																	142161732		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142161732C>T	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.630C>T	8.37:g.142161732C>T						DENND3_ENST00000262585.2_Silent_p.I210I|DENND3_ENST00000424248.1_Silent_p.I210I	p.I290I			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		7	940	+	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)		210			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.870C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	0.277	-0.988985	0.02162	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.5	-5.25	0.02781	.	.	.	.	.	T	0.49729	0.1574	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50759	-0.8790	4	.	.	.	-15.0582	7.7439	0.28858	0.0:0.2137:0.3397:0.4466	.	.	.	.	S	267	.	.	P	+	1	0	DENND3	142230914	0.068000	0.21057	0.000000	0.03702	0.006000	0.05464	-0.171000	0.09883	-0.851000	0.04147	-0.150000	0.13652	CCT		0.547	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		31	60	0	0	0	1	0	31	60				
GUCY1B3	2983	broad.mit.edu	37	4	156716525	156716525	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:156716525C>T	ENST00000264424.8	+	7	841	c.759C>T	c.(757-759)gtC>gtT	p.V253V	GUCY1B3_ENST00000505154.1_Silent_p.V185V|GUCY1B3_ENST00000502959.1_Silent_p.V275V|GUCY1B3_ENST00000513437.1_Silent_p.V185V|GUCY1B3_ENST00000505764.1_Silent_p.V233V|GUCY1B3_ENST00000503520.1_Silent_p.V253V|GUCY1B3_ENST00000507146.1_Silent_p.V185V	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	253					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTCTGTCTGTCTTCTCGCTGG	0.348																																						ENST00000264424.8																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(757-759)gtC>gtT		guanylate cyclase 1, soluble, beta 3							138.0	130.0	133.0					4																	156716525		1851	4092	5943	SO:0001819	synonymous_variant	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156716525C>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.759C>T	4.37:g.156716525C>T						GUCY1B3_ENST00000505764.1_Silent_p.V233V|GUCY1B3_ENST00000502959.1_Silent_p.V275V|GUCY1B3_ENST00000513437.1_Silent_p.V185V|GUCY1B3_ENST00000503520.1_Silent_p.V253V|GUCY1B3_ENST00000505154.1_Silent_p.V185V|GUCY1B3_ENST00000507146.1_Silent_p.V185V	p.V253V	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	7	841	+	all_hematologic(180;0.24)	Renal(120;0.0854)	253					B7Z426|Q86WY5	Silent	SNP	ENST00000264424.8	37	c.759C>T	CCDS47154.1																																																																																				0.348	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			14	2	0	0	0	1	0	14	2				
ACTB	60	broad.mit.edu	37	7	5568124	5568124	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:5568124C>T	ENST00000331789.5	-	4	781	c.590G>A	c.(589-591)gGc>gAc	p.G197D	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	197					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GAAGCTGTAGCCGCGCTCGGT	0.617																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(589-591)gGc>gAc		actin, beta							57.0	58.0	57.0					7																	5568124		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568124C>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.590G>A	7.37:g.5568124C>T	ENSP00000349960:p.Gly197Asp						p.G197D	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	781	-		Ovarian(82;0.0606)	197					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.590G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010347	0.54361	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.94723	-3.5	5.55	4.67	0.58626	.	0.000000	0.64402	D	0.000013	D	0.97907	0.9312	H	0.94964	3.605	0.52501	D	0.999956	B	0.28636	0.218	P	0.53912	0.737	D	0.98173	1.0453	10	0.87932	D	0	.	12.222	0.54439	0.0:0.9172:0.0:0.0828	.	197	P60709	ACTB_HUMAN	D	197;173;169;116	ENSP00000349960:G197D	ENSP00000440549:G116D	G	-	2	0	ACTB	5534650	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.533000	0.81994	1.358000	0.45922	-0.141000	0.14075	GGC		0.617	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		28	84	0	0	0	1	0	28	84				
SEMA3G	56920	broad.mit.edu	37	3	52476825	52476825	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52476825G>A	ENST00000231721.2	-	2	213	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	72	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGGCCACCCAGAAAGAGGCGG	0.622																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(214-216)Ctg>Ttg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							60.0	64.0	63.0					3																	52476825		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52476825G>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.214C>T	3.37:g.52476825G>A							p.L72L	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	2	213	-			72			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.214C>T	CCDS2856.1																																																																																				0.622	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		8	14	0	0	0	1	0	8	14				
TAF1	6872	broad.mit.edu	37	X	70679473	70679473	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70679473C>T	ENST00000373790.4	+	36	5184	c.5133C>T	c.(5131-5133)gtC>gtT	p.V1711V	TAF1_ENST00000276072.3_Silent_p.V1732V|TAF1_ENST00000423759.1_Silent_p.V1734V|TAF1_ENST00000449580.1_Silent_p.V1745V|TAF1_ENST00000461764.1_3'UTR	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1711	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAGCCAGTGTCCTGTATGAGG	0.473																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(5233-5235)gtC>gtT		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							219.0	164.0	183.0					X																	70679473		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70679473C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5133C>T	X.37:g.70679473C>T						TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Silent_p.V1711V|TAF1_ENST00000276072.3_Silent_p.V1732V|TAF1_ENST00000423759.1_Silent_p.V1734V	p.V1745V			P21675	TAF1_HUMAN			37	5286	+	Renal(35;0.156)	all_lung(315;0.000321)	1711			Asp/Glu-rich (acidic tail).|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.5235C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660670	0.14645	.	.	ENSG00000147133	ENST00000437147	.	.	.	4.94	3.1	0.35709	.	.	.	.	.	T	0.47488	0.1448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31779	-0.9931	4	.	.	.	.	4.3163	0.10995	0.1525:0.4769:0.2893:0.0814	.	.	.	.	F	400	.	.	S	+	2	0	TAF1	70596198	0.997000	0.39634	0.970000	0.41538	0.996000	0.88848	0.377000	0.20552	0.464000	0.27142	0.529000	0.55759	TCC		0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		33	60	0	0	0	1	0	33	60				
NCR1	9437	broad.mit.edu	37	19	55424092	55424092	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55424092C>T	ENST00000291890.4	+	7	806	c.768C>T	c.(766-768)ctC>ctT	p.L256L	NCR1_ENST00000598576.1_Silent_p.L243L|NCR1_ENST00000357397.5_Silent_p.L149L|NCR1_ENST00000338835.5_Silent_p.L239L|NCR1_ENST00000594765.1_Silent_p.L255L|NCR1_ENST00000350790.5_Silent_p.L161L|NCR1_ENST00000447255.1_Silent_p.L255L	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	256					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.L256L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCAGAATCTCCTTCGGATGG	0.532																																						ENST00000594765.1																			1	Substitution - coding silent(1)	p.L256L(1)	skin(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(763-765)ctC>ctT		natural cytotoxicity triggering receptor 1							127.0	88.0	101.0					19																	55424092		2203	4300	6503	SO:0001819	synonymous_variant	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55424092C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.768C>T	19.37:g.55424092C>T						NCR1_ENST00000291890.4_Silent_p.L256L|NCR1_ENST00000338835.5_Silent_p.L239L|NCR1_ENST00000447255.1_Silent_p.L255L|NCR1_ENST00000598576.1_Silent_p.L243L|NCR1_ENST00000350790.5_Silent_p.L161L|NCR1_ENST00000357397.5_Silent_p.L149L	p.L255L			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	7	790	+			256					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	ENST00000291890.4	37	c.765C>T	CCDS12911.1																																																																																				0.532	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			6	58	0	0	0	1	0	6	58				
COL8A1	1295	broad.mit.edu	37	3	99513097	99513097	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:99513097G>A	ENST00000261037.3	+	5	732	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G118R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	118	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAGTTTACGAGGGGAACAAGG	0.522																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(352-354)Ggg>Agg		collagen, type VIII, alpha 1							49.0	52.0	51.0					3																	99513097		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513097G>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.352G>A	3.37:g.99513097G>A	ENSP00000261037:p.Gly118Arg					COL8A1_ENST00000273342.4_Missense_Mutation_p.G118R	p.G118R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	732	+			118			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.352G>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374451	0.61735	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.93659	-3.26;-3.26	5.48	5.48	0.80851	.	0.051199	0.85682	D	0.000000	D	0.97393	0.9147	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98150	1.0441	10	0.87932	D	0	.	16.849	0.85988	0.0:0.0:1.0:0.0	.	119;118	E7EPK9;P27658	.;CO8A1_HUMAN	R	118	ENSP00000261037:G118R;ENSP00000273342:G118R	ENSP00000261037:G118R	G	+	1	0	COL8A1	100995787	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.583000	0.87209	0.655000	0.94253	GGG		0.522	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		3	18	0	0	0	1	0	3	18				
IRAK4	51135	broad.mit.edu	37	12	44166808	44166808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:44166808G>A	ENST00000448290.2	+	5	655	c.584G>A	c.(583-585)gGa>gAa	p.G195E	IRAK4_ENST00000551736.1_Missense_Mutation_p.G195E|IRAK4_ENST00000440781.2_Missense_Mutation_p.G71E|IRAK4_ENST00000431837.1_Missense_Mutation_p.G71E	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATGGGAGAGGGAGGATTTGGA	0.348																																						ENST00000431837.1																			0											c.(211-213)gGa>gAa		interleukin-1 receptor-associated kinase 4							72.0	73.0	73.0					12																	44166808		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44166808G>A	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.584G>A	12.37:g.44166808G>A	ENSP00000390651:p.Gly195Glu					IRAK4_ENST00000551736.1_Missense_Mutation_p.G195E|IRAK4_ENST00000448290.2_Missense_Mutation_p.G195E|IRAK4_ENST00000440781.2_Missense_Mutation_p.G71E	p.G71E	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	4	520	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	195			Death.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.212G>A	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840343	0.91117	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99308	1.0903	10	0.87932	D	0	-22.7736	19.0283	0.92944	0.0:0.0:1.0:0.0	.	195	Q9NWZ3	IRAK4_HUMAN	E	71;71;195;195;195	ENSP00000408734:G71E;ENSP00000390327:G71E;ENSP00000390651:G195E;ENSP00000446490:G195E	ENSP00000349096:G195E	G	+	2	0	IRAK4	42453075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.680000	0.91225	2.572000	0.86782	0.655000	0.94253	GGA		0.348	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			4	40	0	0	0	1	0	4	40				
DCTN4	51164	broad.mit.edu	37	5	150112965	150112965	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:150112965C>T	ENST00000447998.2	-	5	617	c.502G>A	c.(502-504)Gca>Aca	p.A168T	DCTN4_ENST00000424236.1_Missense_Mutation_p.A111T|DCTN4_ENST00000446090.2_Missense_Mutation_p.A168T|DCTN4_ENST00000521093.1_5'UTR	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	168					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)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACGTCGTGCCAGTTTCTTG	0.403																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(502-504)Gca>Aca		dynactin 4 (p62)							151.0	137.0	142.0					5																	150112965		2203	4300	6503	SO:0001583	missense	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150112965C>T	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.502G>A	5.37:g.150112965C>T	ENSP00000416968:p.Ala168Thr					DCTN4_ENST00000446090.2_Missense_Mutation_p.A168T|DCTN4_ENST00000521093.1_5'UTR|DCTN4_ENST00000424236.1_Missense_Mutation_p.A111T	p.A168T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	617	-		Medulloblastoma(196;0.167)	168					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	37	c.502G>A	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692220	0.68271	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090;ENST00000521728;ENST00000518015;ENST00000521533	T;T;T;T;T;T	0.42900	1.92;1.92;1.92;1.92;1.92;0.96	5.68	5.68	0.88126	.	0.107611	0.64402	D	0.000006	T	0.39784	0.1091	L	0.50333	1.59	0.48696	D	0.999694	B;B	0.15930	0.015;0.002	B;B	0.12156	0.007;0.005	T	0.30327	-0.9982	10	0.11182	T	0.66	-8.605	19.7923	0.96464	0.0:1.0:0.0:0.0	.	168;168	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	T	168;111;168;25;111;111	ENSP00000416968:A168T;ENSP00000411251:A111T;ENSP00000414906:A168T;ENSP00000428987:A25T;ENSP00000430993:A111T;ENSP00000430183:A111T	ENSP00000411251:A111T	A	-	1	0	DCTN4	150093158	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.903000	0.63272	2.693000	0.91896	0.655000	0.94253	GCA		0.403	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			12	99	0	0	0	1	0	12	99				
NCAPG2	54892	broad.mit.edu	37	7	158476054	158476054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:158476054C>T	ENST00000409423.1	-	10	1034	c.862G>A	c.(862-864)Gac>Aac	p.D288N	NCAPG2_ENST00000275830.10_Missense_Mutation_p.D80N|NCAPG2_ENST00000356309.3_Missense_Mutation_p.D288N|NCAPG2_ENST00000409339.3_Missense_Mutation_p.D288N|NCAPG2_ENST00000449727.2_Missense_Mutation_p.D288N	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	288					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AACATGAAGTCCTGGATGCAA	0.448																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(862-864)Gac>Aac		non-SMC condensin II complex, subunit G2							157.0	154.0	155.0					7																	158476054		1937	4137	6074	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158476054C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.862G>A	7.37:g.158476054C>T	ENSP00000386569:p.Asp288Asn					NCAPG2_ENST00000356309.3_Missense_Mutation_p.D288N|NCAPG2_ENST00000409423.1_Missense_Mutation_p.D288N|NCAPG2_ENST00000275830.10_Missense_Mutation_p.D80N|NCAPG2_ENST00000449727.2_Missense_Mutation_p.D288N	p.D288N			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	9	975	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	288					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.862G>A	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232521	0.95207	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.68830	-0.5305	10	0.62326	D	0.03	-28.9542	19.7664	0.96346	0.0:1.0:0.0:0.0	.	288;80;288	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	N	288;288;80;288;288	ENSP00000348657:D288N;ENSP00000386569:D288N;ENSP00000275830:D80N;ENSP00000387007:D288N;ENSP00000388326:D288N	ENSP00000275830:D80N	D	-	1	0	NCAPG2	158168815	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.776000	0.75023	2.735000	0.93741	0.655000	0.94253	GAC		0.448	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		16	164	0	0	0	1	0	16	164				
ACTC1	70	broad.mit.edu	37	15	35085586	35085586	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:35085586G>A	ENST00000290378.4	-	3	969	c.314C>T	c.(313-315)aCc>aTc	p.T105I	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	105					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGTGAGCAGGGTGGGGTGCTC	0.572																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(313-315)aCc>aTc		actin, alpha, cardiac muscle 1							86.0	85.0	86.0					15																	35085586		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35085586G>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.314C>T	15.37:g.35085586G>A	ENSP00000290378:p.Thr105Ile					RP11-814P5.1_ENST00000503496.1_RNA	p.T105I	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	969	-		all_lung(180;2.3e-08)	105					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.314C>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118132	0.56505	.	.	ENSG00000159251	ENST00000290378	D	0.93247	-3.19	5.63	5.63	0.86233	.	0.000000	0.53938	U	0.000052	D	0.87537	0.6202	N	0.00092	-2.175	0.80722	D	1	D	0.54772	0.968	D	0.87578	0.998	D	0.94287	0.7525	10	0.87932	D	0	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	105	P68032	ACTC_HUMAN	I	105	ENSP00000290378:T105I	ENSP00000290378:T105I	T	-	2	0	ACTC1	32872878	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	8.062000	0.89475	2.814000	0.96858	0.655000	0.94253	ACC		0.572	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		12	85	0	0	0	1	0	12	85				
COL5A3	50509	broad.mit.edu	37	19	10071210	10071210	+	Silent	SNP	G	G	A	rs377335266		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10071210G>A	ENST00000264828.3	-	67	5200	c.5115C>T	c.(5113-5115)acC>acT	p.T1705T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1705	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ATTCGAAAAGGGTCTTCGTCT	0.567																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(5113-5115)acC>acT		collagen, type V, alpha 3		G		0,4406		0,0,2203	96.0	105.0	102.0		5115	1.7	1.0	19		102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	COL5A3	NM_015719.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1705/1746	10071210	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071210G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5115C>T	19.37:g.10071210G>A							p.T1705T	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		67	5200	-			1705			Fibrillar collagen NC1.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.5115C>T	CCDS12222.1																																																																																				0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		39	70	0	0	0	1	0	39	70				
GLS2	27165	broad.mit.edu	37	12	56867092	56867092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56867092G>A	ENST00000311966.4	-	14	1647	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	457					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	AAATTGAAGAGAGACACCAAC	0.413																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1369-1371)Ctc>Ttc		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						89.0	89.0	89.0					12																	56867092		2203	4300	6503	SO:0001583	missense	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56867092G>A		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1369C>T	12.37:g.56867092G>A	ENSP00000310447:p.Leu457Phe						p.L457F	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			14	1647	-			457					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	c.1369C>T	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457459	0.43634	.	.	ENSG00000135423	ENST00000311966	T	0.44881	0.91	4.88	3.97	0.46021	Beta-lactamase/transpeptidase-like (1);	0.481828	0.23096	N	0.051976	T	0.44850	0.1313	L	0.61387	1.9	0.80722	D	1	B	0.20671	0.047	B	0.30105	0.111	T	0.43589	-0.9382	10	0.44086	T	0.13	-17.9027	14.6596	0.68861	0.0:0.1587:0.8413:0.0	.	457	Q9UI32	GLSL_HUMAN	F	457	ENSP00000310447:L457F	ENSP00000310447:L457F	L	-	1	0	GLS2	55153359	0.991000	0.36638	0.997000	0.53966	0.999000	0.98932	0.631000	0.24568	1.371000	0.46172	0.655000	0.94253	CTC		0.413	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		4	72	0	0	0	1	0	4	72				
E2F4	1874	broad.mit.edu	37	16	67229886	67229886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67229886C>T	ENST00000379378.3	+	7	1069	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	337	Transactivation. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TCCTTTGAGCCCATCAAGGCA	0.592																																						ENST00000379378.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(1009-1011)cCc>cTc		E2F transcription factor 4, p107/p130-binding							87.0	88.0	88.0					16																	67229886		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67229886C>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.1010C>T	16.37:g.67229886C>T	ENSP00000368686:p.Pro337Leu						p.P337L	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	7	1069	+		Ovarian(137;0.0563)	337			Transactivation (Potential).		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.1010C>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959981	0.92791	.	.	ENSG00000205250	ENST00000379378	D	0.86366	-2.11	5.17	5.17	0.71159	.	0.667365	0.14688	N	0.304318	D	0.91811	0.7409	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90701	0.4620	10	0.45353	T	0.12	-16.2653	17.2453	0.87026	0.0:1.0:0.0:0.0	.	337	Q16254	E2F4_HUMAN	L	337	ENSP00000368686:P337L	ENSP00000368686:P337L	P	+	2	0	E2F4	65787387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.518000	0.60510	2.407000	0.81776	0.655000	0.94253	CCC		0.592	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		33	108	0	0	0	1	0	33	108				
LRRIQ1	84125	broad.mit.edu	37	12	85638653	85638653	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:85638653A>T	ENST00000393217.2	+	27	5164	c.5103A>T	c.(5101-5103)aaA>aaT	p.K1701N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1701										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAGAAAAAAAAAATCAGGCAC	0.393																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(5101-5103)aaA>aaT		leucine-rich repeats and IQ motif containing 1							90.0	82.0	85.0					12																	85638653		1833	4088	5921	SO:0001583	missense	84125							g.chr12:85638653A>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.5103A>T	12.37:g.85638653A>T	ENSP00000376910:p.Lys1701Asn					LRRIQ1_ENST00000528777.3_3'UTR	p.K1701N	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	27	5164	+			1701					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.5103A>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589846	0.46214	.	.	ENSG00000133640	ENST00000393217	T	0.53423	0.62	5.9	0.409	0.16382	.	.	.	.	.	T	0.23492	0.0568	N	0.19112	0.55	0.28330	N	0.921848	B	0.32071	0.355	B	0.29267	0.1	T	0.21724	-1.0237	9	0.10111	T	0.7	.	4.0255	0.09685	0.4999:0.0:0.2645:0.2356	.	1701	Q96JM4	LRIQ1_HUMAN	N	1701	ENSP00000376910:K1701N	ENSP00000376910:K1701N	K	+	3	2	LRRIQ1	84162784	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	0.755000	0.26405	0.127000	0.18452	0.460000	0.39030	AAA		0.393	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		27	29	0	0	0	1	0	27	29				
FAM189A2	9413	broad.mit.edu	37	9	71990742	71990742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:71990742C>T	ENST00000257515.8	+	4	634	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	FAM189A2_ENST00000455972.1_Missense_Mutation_p.P72S|FAM189A2_ENST00000303068.7_5'UTR	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	72						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAAACTCTTTCCGGTTCAGCC	0.473																																						ENST00000257515.8																			0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(214-216)Ccg>Tcg		family with sequence similarity 189, member A2							137.0	134.0	135.0					9																	71990742		2203	4300	6503	SO:0001583	missense	9413					integral to membrane		g.chr9:71990742C>T	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.214C>T	9.37:g.71990742C>T	ENSP00000257515:p.Pro72Ser					FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.P72S	p.P72S	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN			4	634	+			72					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	ENST00000257515.8	37	c.214C>T	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337553	0.81911	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	T;T	0.03553	3.89;3.89	5.53	5.53	0.82687	.	0.064002	0.64402	D	0.000007	T	0.14787	0.0357	L	0.52573	1.65	0.58432	D	0.999994	D	0.76494	0.999	D	0.68765	0.96	T	0.00112	-1.2044	10	0.66056	D	0.02	-15.4035	19.0519	0.93050	0.0:1.0:0.0:0.0	.	72	Q15884	F1892_HUMAN	S	72;72;71	ENSP00000395675:P72S;ENSP00000257515:P72S	ENSP00000257515:P72S	P	+	1	0	FAM189A2	71180562	1.000000	0.71417	0.949000	0.38748	0.908000	0.53690	5.219000	0.65262	2.599000	0.87857	0.462000	0.41574	CCG		0.473	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		32	47	0	0	0	1	0	32	47				
SLC2A14	144195	broad.mit.edu	37	12	7984301	7984301	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:7984301C>T	ENST00000543909.1	-	9	999	c.240G>A	c.(238-240)gaG>gaA	p.E80E	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000396589.2_Silent_p.E80E|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000539924.1_Silent_p.E95E|SLC2A14_ENST00000340749.5_Silent_p.E57E|SLC2A14_ENST00000431042.2_Silent_p.E57E			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	80					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)			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)		TGAGCAGCACCTCAGAGGGAG	0.468											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1																			0				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						c.(238-240)gaG>gaA		solute carrier family 2 (facilitated glucose transporter), member 14							118.0	109.0	112.0					12																	7984301		2203	4300	6503	SO:0001819	synonymous_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984301C>T	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.240G>A	12.37:g.7984301C>T			OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000340749.5_Silent_p.E57E|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000539924.1_Silent_p.E95E|SLC2A14_ENST00000396589.2_Silent_p.E80E|SLC2A14_ENST00000431042.2_Silent_p.E57E	p.E80E			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	9	999	-			80					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	c.240G>A	CCDS8585.1																																																																																				0.468	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		32	54	0	0	0	1	0	32	54				
SHQ1	55164	broad.mit.edu	37	3	72866405	72866405	+	Silent	SNP	G	G	A	rs547916015|rs559942566		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:72866405G>A	ENST00000325599.8	-	7	997	c.858C>T	c.(856-858)acC>acT	p.T286T	SHQ1_ENST00000463369.1_Silent_p.T258T	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	286					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CAGTGACACGGGTTTCATAGC	0.403																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(856-858)acC>acT		SHQ1, H/ACA ribonucleoprotein assembly factor							191.0	164.0	173.0					3																	72866405		2203	4299	6502	SO:0001819	synonymous_variant	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72866405G>A	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.858C>T	3.37:g.72866405G>A						SHQ1_ENST00000463369.1_Silent_p.T258T	p.T286T	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	7	997	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	286					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	c.858C>T	CCDS33788.1																																																																																				0.403	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		13	96	0	0	0	1	0	13	96				
CYP2C18	1562	broad.mit.edu	37	10	96495183	96495183	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:96495183C>T	ENST00000285979.6	+	9	1654	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	CYP2C18_ENST00000339022.5_Silent_p.L426L|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	485					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TGTACCAGCTCTGCTTCATTC	0.493																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(1453-1455)ctC>ctT		cytochrome P450, family 2, subfamily C, polypeptide 18							194.0	178.0	183.0					10																	96495183		2203	4300	6503	SO:0001819	synonymous_variant	1562							g.chr10:96495183C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1455C>T	10.37:g.96495183C>T						CYP2C18_ENST00000339022.5_Silent_p.L426L|CYP2C19_ENST00000464755.1_Intron	p.L485L	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	9	1654	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	37	c.1455C>T	CCDS7435.1																																																																																				0.493	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		7	96	0	0	0	1	0	7	96				
MST1R	4486	broad.mit.edu	37	3	49929013	49929013	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49929013C>T	ENST00000296474.3	-	16	3380	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	MST1R_ENST00000344206.4_Splice_Site_p.R1069H	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		CTCTGTGATGCCTGCAGAGCA	0.572																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.e16-1		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							67.0	64.0	65.0					3																	49929013		2203	4300	6503	SO:0001630	splice_region_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49929013C>T	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.3353-1G>A	3.37:g.49929013C>T						MST1R_ENST00000344206.4_Splice_Site_p.R1069_splice	p.R1118_splice	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	16	3380	-			1118			Protein kinase.		B5A944|B5A945|B5A946|B5A947	Splice_Site	SNP	ENST00000296474.3	37	c.3352_splice	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.2|22.2	4.260962|4.260962	0.80246|0.80246	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000434765;ENST00000440292|ENST00000296474;ENST00000344206	.|D;D	.|0.82803	.|-1.65;-1.65	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.183501	.|0.56097	.|D	.|0.000033	T|T	0.80529|0.80529	0.4640|0.4640	L|L	0.46885|0.46885	1.475|1.475	0.80722|0.80722	D|D	1|1	.|B	.|0.16166	.|0.016	.|B	.|0.14578	.|0.011	T|T	0.76796|0.76796	-0.2827|-0.2827	5|10	.|0.66056	.|D	.|0.02	.|.	18.869|18.869	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1118	.|Q04912	.|RON_HUMAN	T|H	96;139|1118;1069	.|ENSP00000296474:R1118H;ENSP00000341325:R1069H	.|ENSP00000296474:R1118H	A|R	-|-	1|2	0|0	MST1R|MST1R	49904017|49904017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	7.500000|7.500000	0.81588|0.81588	2.697000|2.697000	0.92050|0.92050	0.638000|0.638000	0.83543|0.83543	GCA|CGC		0.572	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		Missense_Mutation	33	44	0	0	0	1	0	33	44				
CFTR	1080	broad.mit.edu	37	7	117176690	117176690	+	Missense_Mutation	SNP	G	G	A	rs397508801		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:117176690G>A	ENST00000003084.6	+	7	964	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	CFTR_ENST00000454343.1_Missense_Mutation_p.E278K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	278	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)			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)	ATACTGCTGGGAAGAAGCAAT	0.308									Cystic Fibrosis																													ENST00000003084.6																			0				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						c.(832-834)Gaa>Aaa		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						89.0	88.0	88.0					7																	117176690		2203	4299	6502	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117176690G>A	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.832G>A	7.37:g.117176690G>A	ENSP00000003084:p.Glu278Lys					CFTR_ENST00000454343.1_Missense_Mutation_p.E278K	p.E278K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		7	964	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		278			ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.832G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273765	0.95459	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.92805	-3.11;-3.11;-3.11	5.1	5.1	0.69264	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	0.96528	0.8867	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97035	0.9753	10	0.87932	D	0	-19.4783	18.8935	0.92414	0.0:0.0:1.0:0.0	.	278	P13569	CFTR_HUMAN	K	278;278;248	ENSP00000003084:E278K;ENSP00000403677:E278K;ENSP00000389119:E248K	ENSP00000003084:E278K	E	+	1	0	CFTR	116963926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.304000	0.96190	2.543000	0.85770	0.655000	0.94253	GAA		0.308	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		6	194	0	0	0	1	0	6	194				
KDM5B	10765	broad.mit.edu	37	1	202742407	202742407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:202742407C>T	ENST00000367265.3	-	4	1579	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E139K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	139	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E139K(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCACCTTCTTCTGCAACTAAC	0.393																																						ENST00000367265.3																			1	Substitution - Missense(1)	p.E139K(1)	large_intestine(1)	breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(415-417)Gaa>Aaa		lysine (K)-specific demethylase 5B							111.0	101.0	104.0					1																	202742407		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202742407C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.415G>A	1.37:g.202742407C>T	ENSP00000356234:p.Glu139Lys					KDM5B_ENST00000367264.2_Missense_Mutation_p.E139K	p.E139K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			4	1579	-			139			ARID.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.415G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708213	0.96821	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.62498	0.02;0.02	5.79	5.79	0.91817	ARID/BRIGHT DNA-binding domain (5);	0.047102	0.85682	D	0.000000	T	0.66228	0.2768	N	0.20401	0.57	0.80722	D	1	P;B	0.52463	0.953;0.274	P;P	0.58013	0.831;0.463	T	0.69727	-0.5067	10	0.72032	D	0.01	-24.5662	20.0361	0.97558	0.0:1.0:0.0:0.0	.	139;139	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	K	139	ENSP00000356234:E139K;ENSP00000356233:E139K	ENSP00000356233:E139K	E	-	1	0	KDM5B	201009030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.740000	0.93945	0.563000	0.77884	GAA		0.393	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		21	28	0	0	0	1	0	21	28				
ABCC2	1244	broad.mit.edu	37	10	101563797	101563797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101563797G>A	ENST00000370449.4	+	10	1344	c.1231G>A	c.(1231-1233)Gcc>Acc	p.A411T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	411	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATCCAACTTGGCCAGGAAGGA	0.478																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1231-1233)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						154.0	129.0	137.0					10																	101563797		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101563797G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1231G>A	10.37:g.101563797G>A	ENSP00000359478:p.Ala411Thr						p.A411T	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	10	1344	+		Colorectal(252;0.234)	411			ABC transmembrane type-1 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.1231G>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693772	0.48202	.	.	ENSG00000023839	ENST00000370449	D	0.94417	-3.42	5.48	1.37	0.22104	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.643920	0.17241	N	0.181521	D	0.90349	0.6980	L	0.60455	1.87	0.58432	D	0.999995	B	0.12630	0.006	B	0.20577	0.03	T	0.82352	-0.0500	10	0.37606	T	0.19	-0.7503	3.8156	0.08814	0.4546:0.0:0.3795:0.1659	.	411	Q92887	MRP2_HUMAN	T	411	ENSP00000359478:A411T	ENSP00000359478:A411T	A	+	1	0	ABCC2	101553787	0.086000	0.21541	0.623000	0.29173	0.940000	0.58332	0.767000	0.26575	0.302000	0.22762	0.555000	0.69702	GCC		0.478	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		24	51	0	0	0	1	0	24	51				
DNAH11	8701	broad.mit.edu	37	7	21675613	21675613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:21675613C>T	ENST00000409508.3	+	26	4656	c.4625C>T	c.(4624-4626)aCt>aTt	p.T1542I	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Missense_Mutation_p.T1547I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1547	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						GTCCAGCGAACTTGGTCTCAC	0.388									Kartagener syndrome																													ENST00000328843.6																			0				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						c.(4639-4641)aCt>aTt		dynein, axonemal, heavy chain 11							84.0	79.0	81.0					7																	21675613		1870	4110	5980	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21675613C>T	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.4625C>T	7.37:g.21675613C>T	ENSP00000475939:p.Thr1542Ile					DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.T1542I	p.T1547I			Q96DT5	DYH11_HUMAN			26	4671	+			1547			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4640C>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.579625	0.86645	.	.	ENSG00000105877	ENST00000328843	T	0.61980	0.06	5.56	4.66	0.58398	Dynein heavy chain, domain-2 (1);	0.053430	0.64402	D	0.000001	T	0.78929	0.4361	.	.	.	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.80264	-0.1455	9	0.46703	T	0.11	.	15.2358	0.73430	0.0:0.8585:0.1415:0.0	.	1547	Q96DT5	DYH11_HUMAN	I	1547	ENSP00000330671:T1547I	ENSP00000330671:T1547I	T	+	2	0	DNAH11	21642138	0.985000	0.35326	1.000000	0.80357	0.973000	0.67179	2.693000	0.47027	1.291000	0.44653	0.650000	0.86243	ACT		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	34	0	0	0	1	0	10	34				
NUP205	23165	broad.mit.edu	37	7	135300804	135300804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:135300804C>T	ENST00000285968.6	+	24	3477	c.3451C>T	c.(3451-3453)Cca>Tca	p.P1151S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1151					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCCAGTGAAACCATACTCAGG	0.438																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3451-3453)Cca>Tca		nucleoporin 205kDa							152.0	137.0	142.0					7																	135300804		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135300804C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3451C>T	7.37:g.135300804C>T	ENSP00000285968:p.Pro1151Ser						p.P1151S	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			24	3477	+			1151					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3451C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	7.449	0.642318	0.14451	.	.	ENSG00000155561	ENST00000285968	T	0.27402	1.67	6.16	6.16	0.99307	.	0.098841	0.64402	D	0.000001	T	0.16171	0.0389	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.13072	-1.0523	10	0.08179	T	0.78	-14.757	14.9398	0.70983	0.0:0.9325:0.0:0.0675	.	1151	Q92621	NU205_HUMAN	S	1151	ENSP00000285968:P1151S	ENSP00000285968:P1151S	P	+	1	0	NUP205	134951344	1.000000	0.71417	0.948000	0.38648	0.562000	0.35680	1.177000	0.31969	2.937000	0.99478	0.650000	0.86243	CCA		0.438	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			21	65	0	0	0	1	0	21	65				
RFPL3	10738	broad.mit.edu	37	22	32754268	32754268	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:32754268G>A	ENST00000249007.4	+	1	415	c.210G>A	c.(208-210)gaG>gaA	p.E70E	RFPL3_ENST00000397468.1_Silent_p.E41E|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Silent_p.E41E	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	70							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCAGAAGGAGCCCCATGGGG	0.537																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(208-210)gaG>gaA		ret finger protein-like 3							125.0	118.0	120.0					22																	32754268		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754268G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.210G>A	22.37:g.32754268G>A						RFPL3_ENST00000382088.3_Silent_p.E41E|RFPL3_ENST00000397468.1_Silent_p.E41E	p.E70E	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	415	+			70					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.210G>A	CCDS43011.1																																																																																				0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		44	61	0	0	0	1	0	44	61				
THSD7A	221981	broad.mit.edu	37	7	11676112	11676112	+	Missense_Mutation	SNP	C	C	T	rs372576743		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:11676112C>T	ENST00000423059.4	-	2	918	c.667G>A	c.(667-669)Gcg>Acg	p.A223T	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	223	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGCGGGGGCGCCACCACATGA	0.617										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(667-669)Gcg>Acg		thrombospondin, type I, domain containing 7A		C	THR/ALA	1,4049		0,1,2024	26.0	27.0	27.0		667	4.7	0.5	7		27	0,8384		0,0,4192	no	missense	THSD7A	NM_015204.2	58	0,1,6216	TT,TC,CC		0.0,0.0247,0.0080	benign	223/1658	11676112	1,12433	2025	4192	6217	SO:0001583	missense	221981					integral to membrane		g.chr7:11676112C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.667G>A	7.37:g.11676112C>T	ENSP00000406482:p.Ala223Thr	HNSCC(18;0.044)					p.A223T	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	918	-			223			TSP type-1 2.			Missense_Mutation	SNP	ENST00000423059.4	37	c.667G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304152	0.60305	2.47E-4	0.0	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.55413	0.52	5.62	4.73	0.59995	.	0.143965	0.64402	D	0.000005	T	0.44052	0.1275	L	0.28776	0.89	0.52099	D	0.999945	B	0.30068	0.267	B	0.40940	0.344	T	0.25082	-1.0142	10	0.13853	T	0.58	.	10.1803	0.42963	0.0:0.7915:0.1377:0.0709	.	223	Q9UPZ6	THS7A_HUMAN	T	223	ENSP00000406482:A223T	ENSP00000262042:A223T	A	-	1	0	THSD7A	11642637	1.000000	0.71417	0.540000	0.28089	0.783000	0.44284	4.940000	0.63533	1.480000	0.48289	0.585000	0.79938	GCG		0.617	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		15	48	0	0	0	1	0	15	48				
UBXN4	23190	broad.mit.edu	37	2	136511841	136511841	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:136511841C>T	ENST00000272638.9	+	4	638	c.327C>T	c.(325-327)gtC>gtT	p.V109V	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	109					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTCACAAGGTCCGACAGGTAA	0.428																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(325-327)gtC>gtT		UBX domain protein 4							160.0	148.0	152.0					2																	136511841		1914	4131	6045	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136511841C>T	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.327C>T	2.37:g.136511841C>T						UBXN4_ENST00000490163.1_3'UTR	p.V109V	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			4	638	+			109					A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.327C>T	CCDS42761.1																																																																																				0.428	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		38	71	0	0	0	1	0	38	71				
PTPRM	5797	broad.mit.edu	37	18	7955215	7955215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:7955215C>T	ENST00000332175.8	+	7	1972	c.935C>T	c.(934-936)cCc>cTc	p.P312L	PTPRM_ENST00000580170.1_Missense_Mutation_p.P312L|PTPRM_ENST00000400053.4_Missense_Mutation_p.P250L|PTPRM_ENST00000444013.1_Missense_Mutation_p.P99L|PTPRM_ENST00000400060.4_Missense_Mutation_p.P312L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	312	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)				GGGGATGGGCCCATTGTGGCC	0.577																																						ENST00000332175.8																			0				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						c.(934-936)cCc>cTc		protein tyrosine phosphatase, receptor type, M							54.0	52.0	53.0					18																	7955215		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7955215C>T	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.935C>T	18.37:g.7955215C>T	ENSP00000331418:p.Pro312Leu					PTPRM_ENST00000444013.1_Missense_Mutation_p.P99L|PTPRM_ENST00000400060.4_Missense_Mutation_p.P312L|PTPRM_ENST00000580170.1_Missense_Mutation_p.P312L|PTPRM_ENST00000400053.4_Missense_Mutation_p.P250L	p.P312L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			7	1972	+		Colorectal(10;0.234)	312			Fibronectin type-III 1.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.935C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181695	0.57800	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.82132	2.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.79200	-0.1901	10	0.59425	D	0.04	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	99;312;312	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	L	312;312;250;99	ENSP00000331418:P312L;ENSP00000382933:P312L;ENSP00000382927:P250L;ENSP00000387608:P99L	ENSP00000331418:P312L	P	+	2	0	PTPRM	7945215	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	CCC		0.577	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			5	30	0	0	0	1	0	5	30				
PFKM	5213	broad.mit.edu	37	12	48531615	48531615	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:48531615G>A	ENST00000312352.7	+	11	1087	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	PFKM_ENST00000340802.6_Missense_Mutation_p.E421K|PFKM_ENST00000395233.2_Missense_Mutation_p.E319K|PFKM_ENST00000547587.1_Missense_Mutation_p.E350K|PFKM_ENST00000551804.1_Missense_Mutation_p.E319K|PFKM_ENST00000359794.5_Missense_Mutation_p.E350K	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	350	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GCCCCTCATGGAATGTGTCCA	0.557																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1261-1263)Gaa>Aaa		phosphofructokinase, muscle							134.0	123.0	127.0					12																	48531615		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48531615G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1048G>A	12.37:g.48531615G>A	ENSP00000309438:p.Glu350Lys					PFKM_ENST00000312352.7_Missense_Mutation_p.E350K|PFKM_ENST00000551804.1_Missense_Mutation_p.E319K|PFKM_ENST00000547587.1_Missense_Mutation_p.E350K|PFKM_ENST00000395233.2_Missense_Mutation_p.E319K|PFKM_ENST00000359794.5_Missense_Mutation_p.E350K	p.E421K	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			13	1485	+			350					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1261G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066377	0.76187	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.44	4.44	0.53790	Phosphofructokinase domain (1);	0.054993	0.64402	D	0.000001	T	0.80003	0.4544	M	0.62154	1.92	0.80722	D	1	P;B;B	0.38335	0.627;0.101;0.053	B;B;B	0.40444	0.329;0.078;0.009	T	0.79928	-0.1596	10	0.35671	T	0.21	-23.0935	16.4107	0.83712	0.0:0.0:1.0:0.0	.	319;350;421	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	K	421;350;319;319;350;350	ENSP00000345771:E421K;ENSP00000352842:E350K;ENSP00000378656:E319K;ENSP00000448177:E319K;ENSP00000449426:E350K;ENSP00000309438:E350K	ENSP00000309438:E350K	E	+	1	0	PFKM	46817882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.582000	0.98214	2.475000	0.83589	0.643000	0.83706	GAA		0.557	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		47	80	0	0	0	1	0	47	80				
ANK3	288	broad.mit.edu	37	10	62039353	62039353	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:62039353G>A	ENST00000280772.2	-	2	350	c.159C>T	c.(157-159)caC>caT	p.H53H	ANK3_ENST00000373827.2_Silent_p.H47H|ANK3_ENST00000503366.1_Silent_p.H36H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	53					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTTTTCAAGGTGTCCAGCTC	0.323																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(157-159)caC>caT		ankyrin 3, node of Ranvier (ankyrin G)							120.0	132.0	128.0					10																	62039353		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62039353G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.159C>T	10.37:g.62039353G>A						ANK3_ENST00000503366.1_Silent_p.H36H|ANK3_ENST00000373827.2_Silent_p.H47H	p.H53H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			2	350	-			53					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.159C>T	CCDS7258.1																																																																																				0.323	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		39	79	0	0	0	1	0	39	79				
NUP210P1	255330	broad.mit.edu	37	3	126386092	126386092	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:126386092C>T	ENST00000357061.3	+	0	544					NR_034158.1				nucleoporin 210kDa pseudogene 1																		TCACCAACCACCAGAACCCTT	0.587																																						ENST00000357061.3																			0																																																			0							g.chr3:126386092C>T	BC042038		3q21.2	2011-08-16	2011-08-16	2011-08-16	ENSG00000198284	ENSG00000198284			27399	pseudogene	pseudogene			"""chromosome 3 open reading frame 46"""	C3orf46			Standard	NR_034158		Approved		uc003eje.1		OTTHUMG00000159577		3.37:g.126386092C>T								NR_034158.1						0	544	+									RNA	SNP	ENST00000357061.3	37																																																																																						0.587	NUP210P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356320.1	NR_034158		14	20	0	0	0	1	0	14	20				
TAS1R3	83756	broad.mit.edu	37	1	1269394	1269394	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:1269394C>T	ENST00000339381.5	+	6	2141	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	703					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		TGGTGGCCTTCCCGCCGGAGG	0.706																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(2107-2109)ttC>ttT		taste receptor, type 1, member 3	Aspartame(DB00168)						30.0	26.0	27.0					1																	1269394		2198	4296	6494	SO:0001819	synonymous_variant	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269394C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.2109C>T	1.37:g.1269394C>T							p.F703F	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	6	2141	+	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)	703					Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	c.2109C>T	CCDS30556.1																																																																																				0.706	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			11	17	0	0	0	1	0	11	17				
RNF112	7732	broad.mit.edu	37	17	19316922	19316922	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:19316922C>T	ENST00000461366.1	+	6	968	c.753C>T	c.(751-753)gcC>gcT	p.A251A	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	251	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAGGGGATGCCATGAGCCCTG	0.602																																						ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(751-753)gcC>gcT		ring finger protein 112							58.0	66.0	63.0					17																	19316922		2136	4242	6378	SO:0001819	synonymous_variant	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316922C>T	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.753C>T	17.37:g.19316922C>T							p.A251A	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			6	968	+			251					O60633|Q7Z5V9	Silent	SNP	ENST00000461366.1	37	c.753C>T	CCDS58529.1																																																																																				0.602	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		8	11	0	0	0	1	0	8	11				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	58	0	0	0	1	0	33	58				
PRSS16	10279	broad.mit.edu	37	6	27220592	27220592	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:27220592C>T	ENST00000230582.3	+	9	1029	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.V81V	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	338					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTAGATTGTCTTGCACAGCC	0.522																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1012-1014)gtC>gtT		protease, serine, 16 (thymus)							150.0	123.0	132.0					6																	27220592		2203	4300	6503	SO:0001819	synonymous_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27220592C>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1014C>T	6.37:g.27220592C>T						PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.V81V	p.V338V	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			9	1029	+			338					O75416	Silent	SNP	ENST00000230582.3	37	c.1014C>T	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.96|12.96	2.094884|2.094884	0.36952|0.36952	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000348953	.|.	.|.	.|.	4.41|4.41	2.45|2.45	0.29901|0.29901	.|.	.|.	.|.	.|.	.|.	T|T	0.61110|0.61110	0.2321|0.2321	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.65240|0.65240	-0.6216|-0.6216	4|5	.|0.51188	.|T	.|0.08	-4.0096|-4.0096	12.5541|12.5541	0.56244|0.56244	0.0:0.6827:0.3173:0.0|0.0:0.6827:0.3173:0.0	.|.	.|.	.|.	.|.	F|F	91;117|158	.|.	.|ENSP00000343270:S158F	L|S	+|+	1|2	0|0	PRSS16|PRSS16	27328571|27328571	0.386000|0.386000	0.25180|0.25180	0.769000|0.769000	0.31535|0.31535	0.923000|0.923000	0.55619|0.55619	0.962000|0.962000	0.29280|0.29280	1.201000|1.201000	0.43203|0.43203	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.522	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			6	56	0	0	0	1	0	6	56				
PXMP4	11264	broad.mit.edu	37	20	32295715	32295715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:32295715C>T	ENST00000409299.3	-	4	528	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	PXMP4_ENST00000217398.3_3'UTR|PXMP4_ENST00000344022.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	146						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGGATGTAGCCCTTCTCTACA	0.567																																						ENST00000409299.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(436-438)Ggc>Agc		peroxisomal membrane protein 4, 24kDa							74.0	69.0	70.0					20																	32295715		2203	4300	6503	SO:0001583	missense	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32295715C>T	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.436G>A	20.37:g.32295715C>T	ENSP00000386385:p.Gly146Ser					PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	p.G146S	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN			4	528	-			146					A2A2I7|Q9H0T4	Missense_Mutation	SNP	ENST00000409299.3	37	c.436G>A	CCDS13225.1	.	.	.	.	.	.	.	.	.	.	c	35	5.576119	0.96553	.	.	ENSG00000101417	ENST00000409299	T	0.46451	0.87	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.64799	-0.6322	10	0.41790	T	0.15	-32.9826	20.2013	0.98260	0.0:1.0:0.0:0.0	.	146	Q9Y6I8	PXMP4_HUMAN	S	146	ENSP00000386385:G146S	ENSP00000386385:G146S	G	-	1	0	PXMP4	31759376	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.763000	0.85283	2.779000	0.95612	0.638000	0.83543	GGC		0.567	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		9	46	0	0	0	1	0	9	46				
LRRC66	339977	broad.mit.edu	37	4	52861973	52861973	+	Nonsense_Mutation	SNP	C	C	T	rs370321981	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:52861973C>T	ENST00000343457.3	-	4	1221	c.1215G>A	c.(1213-1215)tgG>tgA	p.W405*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	405						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACTTTTTTTGCCACAGTCTGT	0.562													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.0					ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1213-1215)tgG>tgA		leucine rich repeat containing 66		C	stop/TRP	3,3959		0,3,1978	77.0	80.0	79.0		1215	4.5	0.9	4		79	0,8308		0,0,4154	no	stop-gained	LRRC66	NM_001024611.1		0,3,6132	TT,TC,CC		0.0,0.0757,0.0244		405/881	52861973	3,12267	1981	4154	6135	SO:0001587	stop_gained	339977					integral to membrane		g.chr4:52861973C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1215G>A	4.37:g.52861973C>T	ENSP00000341944:p.Trp405*						p.W405*	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1221	-			405						Nonsense_Mutation	SNP	ENST00000343457.3	37	c.1215G>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410170	0.42715	7.57E-4	0.0	ENSG00000188993	ENST00000343457	.	.	.	4.53	4.53	0.55603	.	0.355245	0.21008	N	0.081728	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6165	14.3496	0.66691	0.0:1.0:0.0:0.0	.	.	.	.	X	405	.	ENSP00000341944:W405X	W	-	3	0	LRRC66	52556730	0.993000	0.37304	0.939000	0.37840	0.020000	0.10135	2.426000	0.44731	2.236000	0.73375	0.313000	0.20887	TGG		0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		8	79	0	0	0	1	0	8	79				
RBM33	155435	broad.mit.edu	37	7	155530302	155530302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:155530302G>A	ENST00000401878.3	+	10	1537	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	447	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCCTCTCCAGGACCAGTGGAG	0.537																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1339-1341)Gac>Aac		RNA binding motif protein 33							35.0	35.0	35.0					7																	155530302		1855	4105	5960	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155530302G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1339G>A	7.37:g.155530302G>A	ENSP00000384160:p.Asp447Asn						p.D447N	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	10	1537	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	447			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.1339G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414183	0.83449	.	.	ENSG00000184863	ENST00000401878	T	0.53423	0.62	5.86	4.99	0.66335	.	.	.	.	.	T	0.51839	0.1698	L	0.51422	1.61	0.80722	D	1	P;P	0.49559	0.925;0.925	P;P	0.52159	0.691;0.526	T	0.44817	-0.9303	9	0.14656	T	0.56	.	15.1844	0.72989	0.0678:0.0:0.9322:0.0	.	164;447	B4DVQ2;Q96EV2	.;RBM33_HUMAN	N	447	ENSP00000384160:D447N	ENSP00000384160:D447N	D	+	1	0	RBM33	155223063	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.150000	0.89634	1.476000	0.48215	0.591000	0.81541	GAC		0.537	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		8	26	0	0	0	1	0	8	26				
ZBTB9	221504	broad.mit.edu	37	6	33423088	33423088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33423088C>T	ENST00000395064.2	+	2	479	c.211C>T	c.(211-213)Cct>Tct	p.P71S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	71	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCTGCCTCTCCTTACTTCCA	0.557																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(211-213)Cct>Tct		zinc finger and BTB domain containing 9							215.0	214.0	214.0					6																	33423088		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423088C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.211C>T	6.37:g.33423088C>T	ENSP00000378503:p.Pro71Ser						p.P71S	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	479	+			71			BTB.		A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.211C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503786	0.85176	.	.	ENSG00000213588	ENST00000395064	T	0.24151	1.87	4.97	4.97	0.65823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.254805	0.25169	U	0.032605	T	0.40119	0.1104	M	0.70108	2.13	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	T	0.06826	-1.0805	10	0.27785	T	0.31	.	15.7719	0.78176	0.0:1.0:0.0:0.0	.	71	Q96C00	ZBTB9_HUMAN	S	71	ENSP00000378503:P71S	ENSP00000378503:P71S	P	+	1	0	ZBTB9	33531066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.221000	0.78016	2.561000	0.86390	0.563000	0.77884	CCT		0.557	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		5	252	0	0	0	1	0	5	252				
FARSA	2193	broad.mit.edu	37	19	13033570	13033570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:13033570C>T	ENST00000314606.4	-	13	1537	c.1519G>A	c.(1519-1521)Gct>Act	p.A507T	MIR5695_ENST00000579717.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.A476T|FARSA_ENST00000588025.1_Missense_Mutation_p.A547T	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	507					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TGTCACGCAGCCTCCTGTGTG	0.622																																						ENST00000588025.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(1639-1641)Gct>Act		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						92.0	79.0	84.0					19																	13033570		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13033570C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1519G>A	19.37:g.13033570C>T	ENSP00000320309:p.Ala507Thr					FARSA_ENST00000423140.2_Missense_Mutation_p.A476T|FARSA_ENST00000314606.4_Missense_Mutation_p.A507T	p.A547T			Q9Y285	SYFA_HUMAN			14	1779	-			507					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.1639G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973642	0.53720	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.64085	-0.08;0.5	4.94	2.79	0.32731	.	0.172962	0.27846	N	0.017611	T	0.36303	0.0962	N	0.03608	-0.345	0.29131	N	0.879619	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.32693	-0.9897	10	0.59425	D	0.04	-5.9587	9.6654	0.39981	0.0:0.8271:0.0:0.1729	.	476;507	B4E363;Q9Y285	.;SYFA_HUMAN	T	507;476	ENSP00000320309:A507T;ENSP00000396548:A476T	ENSP00000320309:A507T	A	-	1	0	FARSA	12894570	0.873000	0.30073	0.129000	0.21949	0.088000	0.18126	0.894000	0.28350	0.589000	0.29677	0.591000	0.81541	GCT		0.622	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		34	72	0	0	0	1	0	34	72				
PTPRO	5800	broad.mit.edu	37	12	15702070	15702070	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:15702070C>T	ENST00000281171.4	+	14	2677	c.2347C>T	c.(2347-2349)Ctt>Ttt	p.L783F	PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.L783F	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	783	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATCTCCAGCCTTCTTCCTGC	0.423																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2347-2349)Ctt>Ttt		protein tyrosine phosphatase, receptor type, O							193.0	180.0	184.0					12																	15702070		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15702070C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2347C>T	12.37:g.15702070C>T	ENSP00000281171:p.Leu783Phe					PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.L783F|PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000442921.2_5'UTR	p.L783F	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			14	2677	+		Hepatocellular(102;0.244)	783			Fibronectin type-III 8.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2347C>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124072	0.77436	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	D;D	0.84873	-1.91;-1.91	4.93	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000326	D	0.88837	0.6545	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	D	0.90216	0.4268	10	0.87932	D	0	.	18.3504	0.90336	0.0:1.0:0.0:0.0	.	783;783	Q16827-2;Q16827	.;PTPRO_HUMAN	F	783	ENSP00000281171:L783F;ENSP00000343434:L783F	ENSP00000281171:L783F	L	+	1	0	PTPRO	15593337	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.645000	0.46621	2.567000	0.86603	0.655000	0.94253	CTT		0.423	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			56	128	0	0	0	1	0	56	128				
ATRN	8455	broad.mit.edu	37	20	3559289	3559289	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:3559289C>T	ENST00000262919.5	+	15	2482	c.2414C>T	c.(2413-2415)gCc>gTc	p.A805V	ATRN_ENST00000446916.2_Missense_Mutation_p.A805V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	805	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTACTACTGCCAAGGAGAAT	0.368																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2413-2415)gCc>gTc		attractin							97.0	93.0	94.0					20																	3559289		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3559289C>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2414C>T	20.37:g.3559289C>T	ENSP00000262919:p.Ala805Val					ATRN_ENST00000446916.2_Missense_Mutation_p.A805V	p.A805V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			15	2482	+			805			C-type lectin.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2414C>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523593	0.85600	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.53857	0.6;0.6	5.42	5.42	0.78866	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.053642	0.64402	D	0.000001	T	0.51702	0.1690	L	0.43152	1.355	0.58432	D	0.999996	B;P	0.45531	0.444;0.86	B;P	0.44561	0.284;0.453	T	0.46105	-0.9215	10	0.30078	T	0.28	-13.4807	18.8161	0.92077	0.0:1.0:0.0:0.0	.	805;805	O75882;O75882-2	ATRN_HUMAN;.	V	805;805;731	ENSP00000262919:A805V;ENSP00000416587:A805V	ENSP00000262919:A805V	A	+	2	0	ATRN	3507289	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	5.787000	0.69013	2.534000	0.85438	0.655000	0.94253	GCC		0.368	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		24	52	0	0	0	1	0	24	52				
ARHGAP22	58504	broad.mit.edu	37	10	49667834	49667834	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:49667834C>T	ENST00000249601.4	-	5	848	c.552G>A	c.(550-552)cgG>cgA	p.R184R	ARHGAP22_ENST00000417247.2_Silent_p.R94R|ARHGAP22_ENST00000435790.2_Silent_p.R190R|ARHGAP22_ENST00000374170.1_Silent_p.R94R|ARHGAP22_ENST00000417912.2_Silent_p.R200R|ARHGAP22_ENST00000374172.1_Silent_p.R75R	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	184	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCCGCGCTCCCGGATGAAGT	0.647																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(550-552)cgG>cgA		Rho GTPase activating protein 22							86.0	83.0	84.0					10																	49667834		2203	4300	6503	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49667834C>T	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.552G>A	10.37:g.49667834C>T						ARHGAP22_ENST00000417247.2_Silent_p.R94R|ARHGAP22_ENST00000417912.2_Silent_p.R200R|ARHGAP22_ENST00000374170.1_Silent_p.R94R|ARHGAP22_ENST00000374172.1_Silent_p.R75R|ARHGAP22_ENST00000435790.2_Silent_p.R190R	p.R184R	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			5	848	-			184			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.552G>A	CCDS7227.1																																																																																				0.647	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		46	72	0	0	0	1	0	46	72				
PAPSS2	9060	broad.mit.edu	37	10	89505618	89505618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:89505618C>T	ENST00000361175.4	+	12	2105	c.1736C>T	c.(1735-1737)aCt>aTt	p.T579I	PAPSS2_ENST00000427144.2_Missense_Mutation_p.T583I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.T584I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	579					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATCTCAGGAACTCGAATGAGG	0.498																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1735-1737)aCt>aTt		3'-phosphoadenosine 5'-phosphosulfate synthase 2							68.0	71.0	70.0					10																	89505618		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89505618C>T	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1736C>T	10.37:g.89505618C>T	ENSP00000354436:p.Thr579Ile					PAPSS2_ENST00000427144.2_Missense_Mutation_p.T583I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.T584I	p.T579I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	12	2105	+		Melanoma(5;0.019)|Colorectal(252;0.123)	579					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1736C>T	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814400	0.90790	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.44482	0.92;0.92;0.92	5.95	5.0	0.66597	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.087229	0.85682	D	0.000000	T	0.79155	0.4398	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.977;0.998	D	0.87282	0.2293	10	0.87932	D	0	-23.5645	16.661	0.85240	0.0:0.8705:0.1295:0.0	.	579;584	O95340;O95340-2	PAPS2_HUMAN;.	I	579;584;583;583	ENSP00000354436:T579I;ENSP00000406157:T584I;ENSP00000397123:T583I	ENSP00000354436:T579I	T	+	2	0	PAPSS2	89495598	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.727000	0.68523	2.824000	0.97209	0.655000	0.94253	ACT		0.498	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			6	43	0	0	0	1	0	6	43				
ENOSF1	55556	broad.mit.edu	37	18	697251	697251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:697251G>A	ENST00000251101.7	-	3	386	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000539164.1_Nonsense_Mutation_p.Q100*|ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000340116.7_Nonsense_Mutation_p.Q121*	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	100					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CATCTGAGCTGCCCATCACTT	0.453																																						ENST00000251101.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(298-300)Cag>Tag		enolase superfamily member 1							230.0	235.0	233.0					18																	697251		2203	4300	6503	SO:0001587	stop_gained	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:697251G>A	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.298C>T	18.37:g.697251G>A	ENSP00000251101:p.Gln100*					ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000340116.7_Nonsense_Mutation_p.Q121*|ENOSF1_ENST00000539164.1_Nonsense_Mutation_p.Q100*|ENOSF1_ENST00000580982.1_Intron	p.Q100*	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN			3	386	-			100					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Nonsense_Mutation	SNP	ENST00000251101.7	37	c.298C>T	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993386	0.74703	.	.	ENSG00000132199	ENST00000251101;ENST00000340116;ENST00000539164	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2036	0.89847	0.0:0.0:1.0:0.0	.	.	.	.	X	100;121;100	.	ENSP00000251101:Q100X	Q	-	1	0	ENOSF1	687251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.788000	0.85771	2.599000	0.87857	0.650000	0.86243	CAG		0.453	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		17	301	0	0	0	1	0	17	301				
ZNF587B	100293516	broad.mit.edu	37	19	58352630	58352630	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58352630G>A	ENST00000442832.4	+	3	822	c.588G>A	c.(586-588)aaG>aaA	p.K196K	ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Silent_p.K196K	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B	196					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CTGGGGAGAAGTCAAACAGCA	0.488																																						ENST00000442832.4																			0											c.(586-588)aaG>aaA		zinc finger protein 587B																																				SO:0001819	synonymous_variant	100293516				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58352630G>A	AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.588G>A	19.37:g.58352630G>A						CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Silent_p.K196K|ZNF587B_ENST00000316462.4_Intron	p.K196K	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN			3	822	+			196					B4DR41	Silent	SNP	ENST00000442832.4	37	c.588G>A	CCDS56109.1																																																																																				0.488	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466834.2	NM_001204818		3	44	0	0	0	1	0	3	44				
SF3A3	10946	broad.mit.edu	37	1	38446393	38446393	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:38446393G>A	ENST00000373019.4	-	8	1510	c.555C>T	c.(553-555)taC>taT	p.Y185Y	SF3A3_ENST00000448721.2_Silent_p.Y132Y|SF3A3_ENST00000489537.1_5'UTR	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	185					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCATCTCTAGGTATCTACAGA	0.378																																						ENST00000373019.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(553-555)taC>taT		splicing factor 3a, subunit 3, 60kDa							77.0	75.0	76.0					1																	38446393		2203	4300	6503	SO:0001819	synonymous_variant	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38446393G>A	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.555C>T	1.37:g.38446393G>A						SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.Y132Y	p.Y185Y	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN			8	1510	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	185					D3DPT5|Q15460|Q5VT87	Silent	SNP	ENST00000373019.4	37	c.555C>T	CCDS428.1																																																																																				0.378	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		5	94	0	0	0	1	0	5	94				
ADAM29	11086	broad.mit.edu	37	4	175898133	175898133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:175898133C>T	ENST00000359240.3	+	5	2127	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P486L|ADAM29_ENST00000404450.4_Missense_Mutation_p.P486L|ADAM29_ENST00000514159.1_Missense_Mutation_p.P486L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	486	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGGAATTCCCTGTAAGGAG	0.453																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1456-1458)cCc>cTc		ADAM metallopeptidase domain 29							102.0	100.0	100.0					4																	175898133		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898133C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1457C>T	4.37:g.175898133C>T	ENSP00000352177:p.Pro486Leu					ADAM29_ENST00000445694.1_Missense_Mutation_p.P486L|ADAM29_ENST00000514159.1_Missense_Mutation_p.P486L|ADAM29_ENST00000404450.4_Missense_Mutation_p.P486L	p.P486L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2127	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	486			Cys-rich.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1457C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666929	0.29604	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	3.69	1.83	0.25207	ADAM, cysteine-rich (2);	0.000000	0.36002	U	0.002858	T	0.29158	0.0725	M	0.76574	2.34	0.09310	N	1	B	0.31680	0.335	B	0.37346	0.247	T	0.15378	-1.0439	9	.	.	.	.	7.9454	0.29982	0.1817:0.6422:0.1761:0.0	.	486	Q9UKF5	ADA29_HUMAN	L	486	ENSP00000352177:P486L;ENSP00000414544:P486L;ENSP00000384229:P486L;ENSP00000423517:P486L	.	P	+	2	0	ADAM29	176134708	0.005000	0.15991	0.001000	0.08648	0.029000	0.11900	1.583000	0.36579	0.474000	0.27392	0.643000	0.83706	CCC		0.453	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				8	61	0	0	0	1	0	8	61				
CAND1	55832	broad.mit.edu	37	12	67691612	67691612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:67691612C>T	ENST00000545606.1	+	6	1270	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	278					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGTATTCAAGCCTTTGAATCA	0.299																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(832-834)gCc>gTc		cullin-associated and neddylation-dissociated 1							82.0	88.0	86.0					12																	67691612		2203	4299	6502	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67691612C>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.833C>T	12.37:g.67691612C>T	ENSP00000442318:p.Ala278Val						p.A278V	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	6	1270	+			278					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.833C>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	33	5.271418	0.95429	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.65916	-0.18	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.88105	2.93	0.80722	D	1	P	0.35411	0.5	B	0.33960	0.173	T	0.72503	-0.4273	9	.	.	.	-9.6835	20.0758	0.97742	0.0:1.0:0.0:0.0	.	278	Q86VP6	CAND1_HUMAN	V	278;278;120	ENSP00000442318:A278V	.	A	+	2	0	CAND1	65977879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.763000	0.94921	0.650000	0.86243	GCC		0.299	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		17	33	0	0	0	1	0	17	33				
TENM4	26011	broad.mit.edu	37	11	78369156	78369156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:78369156C>T	ENST00000278550.7	-	34	8719	c.8257G>A	c.(8257-8259)Gac>Aac	p.D2753N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2753					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TTGGCGCTGTCTGACAGTTCT	0.562																																						ENST00000278550.7																			0											c.(8257-8259)Gac>Aac		teneurin transmembrane protein 4							218.0	230.0	226.0					11																	78369156		2128	4232	6360	SO:0001583	missense	26011							g.chr11:78369156C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8257G>A	11.37:g.78369156C>T	ENSP00000278550:p.Asp2753Asn						p.D2753N	NM_001098816.2	NP_001092286.2					34	8719	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8257G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078060	0.94000	.	.	ENSG00000149256	ENST00000278550	D	0.91464	-2.85	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95758	0.8620	M	0.82923	2.615	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.94955	0.8103	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	2753	Q6N022	TEN4_HUMAN	N	2753	ENSP00000278550:D2753N	.	D	-	1	0	ODZ4	78046804	1.000000	0.71417	0.981000	0.43875	0.931000	0.56810	7.609000	0.82925	2.941000	0.99782	0.655000	0.94253	GAC		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			115	192	0	0	0	1	0	115	192				
IL1RN	3557	broad.mit.edu	37	2	113890312	113890312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113890312C>T	ENST00000409930.3	+	4	462	c.398C>T	c.(397-399)aCc>aTc	p.T133I	IL1RN_ENST00000409052.1_Missense_Mutation_p.T99I|IL1RN_ENST00000354115.2_Missense_Mutation_p.T115I|IL1RN_ENST00000259206.5_Missense_Mutation_p.T136I|IL1RN_ENST00000361779.3_Missense_Mutation_p.T99I	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	133					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	AGTGGCCCCACCACCAGTTTT	0.572									Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000361779.3																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10						c.(295-297)aCc>aTc		interleukin 1 receptor antagonist	Anakinra(DB00026)						94.0	95.0	94.0					2																	113890312		2203	4300	6503	SO:0001583	missense	3557	Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113890312C>T	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.398C>T	2.37:g.113890312C>T	ENSP00000387173:p.Thr133Ile					IL1RN_ENST00000354115.2_Missense_Mutation_p.T115I|IL1RN_ENST00000409930.3_Missense_Mutation_p.T133I|IL1RN_ENST00000409052.1_Missense_Mutation_p.T99I|IL1RN_ENST00000259206.5_Missense_Mutation_p.T136I	p.T99I	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN			6	641	+			133					A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	c.296C>T	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129642	0.37630	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.8	4.0	0.46444	.	0.308612	0.38326	N	0.001738	T	0.24967	0.0606	L	0.49350	1.555	0.37984	D	0.933708	P;B;B	0.36990	0.577;0.071;0.335	B;B;B	0.44315	0.248;0.186;0.446	T	0.10154	-1.0642	10	0.41790	T	0.15	-26.7191	9.5591	0.39357	0.0:0.8344:0.0:0.1656	.	133;115;136	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	I	99;99;136;115;133	ENSP00000387210:T99I;ENSP00000354816:T99I;ENSP00000259206:T136I;ENSP00000329072:T115I;ENSP00000387173:T133I	ENSP00000259206:T136I	T	+	2	0	IL1RN	113606783	0.927000	0.31430	0.996000	0.52242	0.616000	0.37450	0.729000	0.26028	1.466000	0.48025	0.655000	0.94253	ACC		0.572	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841		45	56	0	0	0	1	0	45	56				
VCAN	1462	broad.mit.edu	37	5	82786043	82786043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:82786043G>A	ENST00000265077.3	+	3	762	c.197G>A	c.(196-198)tGg>tAg	p.W66*	VCAN_ENST00000512590.2_Nonsense_Mutation_p.W18*|VCAN_ENST00000513984.1_Nonsense_Mutation_p.W66*|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W66*|VCAN_ENST00000502527.2_Nonsense_Mutation_p.W66*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.W66*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	66	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CGCATCAAATGGTCTAAGATT	0.433																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(196-198)tGg>tAg		versican							100.0	98.0	99.0					5																	82786043		2203	4300	6503	SO:0001587	stop_gained	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82786043G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.197G>A	5.37:g.82786043G>A	ENSP00000265077:p.Trp66*					VCAN_ENST00000512590.2_Nonsense_Mutation_p.W18*|VCAN_ENST00000513984.1_Nonsense_Mutation_p.W66*|VCAN_ENST00000502527.2_Nonsense_Mutation_p.W66*|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W66*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.W66*	p.W66*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	3	762	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	66			Ig-like V-type.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	c.197G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	40	8.258467	0.98729	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9898	0.97362	0.0:0.0:1.0:0.0	.	.	.	.	X	66;66;66;18;66;66;66	.	ENSP00000265077:W66X	W	+	2	0	VCAN	82821799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.510000	0.81708	2.733000	0.93635	0.655000	0.94253	TGG		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		20	65	0	0	0	1	0	20	65				
TRRAP	8295	broad.mit.edu	37	7	98591191	98591191	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:98591191G>A	ENST00000359863.4	+	65	10068				TRRAP_ENST00000446306.3_Missense_Mutation_p.G3268D|TRRAP_ENST00000355540.3_Intron	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein						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)			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)			AGTTCAGTGGGTAACCAGTCC	0.592																																						ENST00000446306.3																			0				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						c.(9802-9804)gGt>gAt		transformation/transcription domain-associated protein							97.0	79.0	85.0					7																	98591191		2203	4300	6503	SO:0001627	intron_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98591191G>A	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.9860-24G>A	7.37:g.98591191G>A						TRRAP_ENST00000355540.3_Intron|TRRAP_ENST00000359863.4_Intron	p.G3268D			Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		63	9864	+	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)		3285			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9803G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.734656|2.734656	0.48939|0.48939	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000446306|ENST00000456197	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|.	.|.	.|.	.|.	T|T	0.75258|0.75258	0.3825|0.3825	.|.	.|.	.|.	0.38215|0.38215	D|D	0.940592|0.940592	P|.	0.36125|.	0.538|.	B|.	0.27170|.	0.077|.	T|T	0.75416|0.75416	-0.3325|-0.3325	7|4	0.30078|.	T|.	0.28|.	.|.	19.5623|19.5623	0.95376|0.95376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3007|.	Q59FH1|.	.|.	D|I	3267|3008	.|.	ENSP00000403708:G3267D|.	G|V	+|+	2|1	0|0	TRRAP|TRRAP	98429127|98429127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.781000|7.781000	0.85668|0.85668	2.689000|2.689000	0.91719|0.91719	0.650000|0.650000	0.86243|0.86243	GGT|GTA		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		24	63	0	0	0	1	0	24	63				
UGGT2	55757	broad.mit.edu	37	13	96536835	96536835	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:96536835G>A	ENST00000376747.3	-	27	3208	c.3138C>T	c.(3136-3138)ccC>ccT	p.P1046P		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1046					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GGATTAGGAGGGGTGATTCAG	0.413																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(3136-3138)ccC>ccT		UDP-glucose glycoprotein glucosyltransferase 2							106.0	100.0	102.0					13																	96536835		2203	4300	6503	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96536835G>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3138C>T	13.37:g.96536835G>A							p.P1046P	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			27	3208	-			1046					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.3138C>T	CCDS9480.1																																																																																				0.413	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		26	57	0	0	0	1	0	26	57				
CD101	9398	broad.mit.edu	37	1	117568408	117568408	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:117568408G>A	ENST00000256652.4	+	8	2764	c.2706G>A	c.(2704-2706)gaG>gaA	p.E902E	CD101_ENST00000369470.1_Silent_p.E902E|RP11-27K13.3_ENST00000445523.1_RNA|RP11-27K13.3_ENST00000421254.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	902	Ig-like C2-type 7.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGAGATGGAGGATGCAGGAA	0.542																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2704-2706)gaG>gaA		CD101 molecule							142.0	122.0	128.0					1																	117568408		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117568408G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2706G>A	1.37:g.117568408G>A						CD101_ENST00000369470.1_Silent_p.E902E|RP11-27K13.3_ENST00000445523.1_RNA	p.E902E	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			8	2764	+			902			Ig-like C2-type 7.		Q15856	Silent	SNP	ENST00000256652.4	37	c.2706G>A	CCDS891.1																																																																																				0.542	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		11	77	0	0	0	1	0	11	77				
GOLGA2	2801	broad.mit.edu	37	9	131022893	131022893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:131022893C>T	ENST00000421699.2	-	17	1540	c.1528G>A	c.(1528-1530)Gcg>Acg	p.A510T	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.A498T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	510					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						AGCTCGGCCGCCCGCTCCAGC	0.662																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1528-1530)Gcg>Acg		golgin A2							57.0	69.0	65.0					9																	131022893		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131022893C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1528G>A	9.37:g.131022893C>T	ENSP00000416097:p.Ala510Thr						p.A510T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			17	1540	-			510					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1528G>A	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	8.960	0.970266	0.18659	.	.	ENSG00000167110	ENST00000421699	T	0.22945	1.93	5.31	3.35	0.38373	.	0.995107	0.08160	N	0.988641	T	0.15696	0.0378	N	0.26042	0.785	0.09310	N	1	B	0.17667	0.023	B	0.15484	0.013	T	0.38672	-0.9650	10	0.15952	T	0.53	.	3.723	0.08463	0.0:0.4675:0.1864:0.3462	.	510	Q08379	GOGA2_HUMAN	T	510	ENSP00000416097:A510T	ENSP00000416097:A510T	A	-	1	0	GOLGA2	130062714	0.002000	0.14202	0.001000	0.08648	0.784000	0.44337	1.512000	0.35812	0.514000	0.28300	0.313000	0.20887	GCG		0.662	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		21	105	0	0	0	1	0	21	105				
PCDHA5	56143	broad.mit.edu	37	5	140203567	140203567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140203567C>T	ENST00000529859.1	+	1	2207	c.2207C>T	c.(2206-2208)cCc>cTc	p.P736L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P736L|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P736L	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	736					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|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)			CGGGGCAAGCCCACTCTGTTG	0.657																																						ENST00000529859.1																			0				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						c.(2206-2208)cCc>cTc									63.0	58.0	60.0					5																	140203567		2203	4300	6503	SO:0001583	missense	0							g.chr5:140203567C>T	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.2207C>T	5.37:g.140203567C>T	ENSP00000436557:p.Pro736Leu					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P736L|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P736L|PCDHA4_ENST00000512229.2_Intron	p.P736L	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2207	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.2207C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596107	0.46318	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.15487	2.42;2.42;2.42	4.03	4.03	0.46877	.	.	.	.	.	T	0.41096	0.1144	M	0.91090	3.175	0.30833	N	0.736528	P;D;P	0.56035	0.922;0.974;0.95	P;P;P	0.54140	0.461;0.743;0.743	T	0.55016	-0.8206	9	0.66056	D	0.02	.	11.4185	0.49967	0.1809:0.8191:0.0:0.0	.	736;736;736	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	L	736	ENSP00000433416:P736L;ENSP00000436557:P736L;ENSP00000367366:P736L	ENSP00000367366:P736L	P	+	2	0	PCDHA5	140183751	0.137000	0.22531	0.426000	0.26672	0.062000	0.15995	3.230000	0.51286	1.956000	0.56807	0.491000	0.48974	CCC		0.657	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		36	58	0	0	0	1	0	36	58				
SEL1L3	23231	broad.mit.edu	37	4	25804006	25804006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:25804006C>T	ENST00000399878.3	-	11	1977	c.1855G>A	c.(1855-1857)Ggt>Agt	p.G619S	SEL1L3_ENST00000264868.5_Missense_Mutation_p.G584S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.G466S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	619						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTGTCAATACCCTGGTAGTGT	0.483																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1855-1857)Ggt>Agt		sel-1 suppressor of lin-12-like 3 (C. elegans)							188.0	183.0	185.0					4																	25804006		1988	4162	6150	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25804006C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1855G>A	4.37:g.25804006C>T	ENSP00000382767:p.Gly619Ser					SEL1L3_ENST00000502949.1_Missense_Mutation_p.G466S|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G584S	p.G619S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			11	1977	-			619					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.1855G>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280541	0.95489	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.72505	-0.66;-0.66;-0.66	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.83723	0.5316	L	0.61218	1.895	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.83973	0.0328	10	0.87932	D	0	-13.6836	20.2787	0.98501	0.0:1.0:0.0:0.0	.	26;619	B4DTH5;Q68CR1	.;SE1L3_HUMAN	S	619;584;466	ENSP00000382767:G619S;ENSP00000264868:G584S;ENSP00000425438:G466S	ENSP00000264868:G584S	G	-	1	0	SEL1L3	25413104	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.567000	0.67378	2.798000	0.96311	0.650000	0.86243	GGT		0.483	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		18	23	0	0	0	1	0	18	23				
OSBPL1A	114876	broad.mit.edu	37	18	21892066	21892066	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:21892066C>T	ENST00000319481.3	-	13	1180	c.974G>A	c.(973-975)tGg>tAg	p.W325*	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGCTTCCAGCCAGTCCTGAAA	0.393																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(973-975)tGg>tAg		oxysterol binding protein-like 1A							112.0	106.0	108.0					18																	21892066		2203	4300	6503	SO:0001587	stop_gained	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21892066C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.974G>A	18.37:g.21892066C>T	ENSP00000320291:p.Trp325*						p.W325*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			13	1180	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		325			PH.		B7Z7D3|Q9BZF5|Q9NW87	Nonsense_Mutation	SNP	ENST00000319481.3	37	c.974G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	40	8.342448	0.98769	.	.	ENSG00000141447	ENST00000319481	.	.	.	5.21	5.21	0.72293	.	0.133096	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4142	19.0951	0.93248	0.0:1.0:0.0:0.0	.	.	.	.	X	325	.	ENSP00000320291:W325X	W	-	2	0	OSBPL1A	20146064	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	6.939000	0.75911	2.574000	0.86865	0.655000	0.94253	TGG		0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		31	60	0	0	0	1	0	31	60				
CTSE	1510	broad.mit.edu	37	1	206331174	206331174	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:206331174G>A	ENST00000358184.2	+	9	1298	c.1180G>A	c.(1180-1182)Gca>Aca	p.A394T	CTSE_ENST00000360218.2_Silent_p.Q346Q|CTSE_ENST00000432969.2_Silent_p.Q271Q|CTSE_ENST00000361052.3_Missense_Mutation_p.A399T	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	399					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ACTGGCCCCAGCAGTCCCCTA	0.532																																						ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(1195-1197)Gca>Aca		cathepsin E							117.0	124.0	122.0					1																	206331174		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206331174G>A	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.1180G>A	1.37:g.206331174G>A	ENSP00000350911:p.Ala394Thr					CTSE_ENST00000360218.2_Silent_p.Q346Q|CTSE_ENST00000432969.2_Silent_p.Q271Q|CTSE_ENST00000358184.2_Missense_Mutation_p.A394T	p.A399T			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		9	1313	+			399					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.1195G>A	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	g	13.88	2.367838	0.42003	.	.	ENSG00000196188	ENST00000358184;ENST00000361052	T;T	0.62941	-0.01;-0.01	5.09	5.09	0.68999	.	0.089981	0.47093	D	0.000244	T	0.58722	0.2142	M	0.71920	2.185	0.80722	D	1	B	0.22909	0.077	B	0.12156	0.007	T	0.61153	-0.7120	10	0.72032	D	0.01	.	9.3724	0.38261	0.0796:0.148:0.7724:0.0	.	394	P14091-1	.	T	394;399	ENSP00000350911:A394T;ENSP00000354337:A399T	ENSP00000350911:A394T	A	+	1	0	CTSE	204497797	1.000000	0.71417	0.911000	0.35937	0.095000	0.18619	4.354000	0.59417	2.806000	0.96561	0.549000	0.68633	GCA		0.532	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		20	53	0	0	0	1	0	20	53				
PAK6	56924	broad.mit.edu	37	15	40558444	40558444	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40558444C>T	ENST00000542403.2	+	3	717	c.606C>T	c.(604-606)tcC>tcT	p.S202S	PAK6_ENST00000455577.2_Silent_p.S202S|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Silent_p.S202S|PAK6_ENST00000560346.1_Silent_p.S202S|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Silent_p.S202S|PAK6_ENST00000441369.1_Silent_p.S202S	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	202	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGCAGAGCTCCCCACCAGGAG	0.677																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(604-606)tcC>tcT		p21 protein (Cdc42/Rac)-activated kinase 6							16.0	20.0	19.0					15																	40558444		2200	4287	6487	SO:0001819	synonymous_variant	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40558444C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.606C>T	15.37:g.40558444C>T						PAK6_ENST00000453867.1_Silent_p.S202S|PAK6_ENST00000260404.4_Silent_p.S202S|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000560346.1_Silent_p.S202S|PAK6_ENST00000542403.2_Silent_p.S202S|PAK6_ENST00000441369.1_Silent_p.S202S	p.S202S	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	5	1518	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	202			Linker.		A8K2G2|B3KYB0|G5E9R2	Silent	SNP	ENST00000542403.2	37	c.606C>T	CCDS10054.1																																																																																				0.677	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			9	18	0	0	0	1	0	9	18				
FAM46B	115572	broad.mit.edu	37	1	27332861	27332861	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27332861G>A	ENST00000289166.5	-	2	1017	c.852C>T	c.(850-852)caC>caT	p.H284H		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	284										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GCACCAGGAGGTGGCAGTACT	0.677																																						ENST00000289166.5																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(850-852)caC>caT		family with sequence similarity 46, member B							19.0	22.0	21.0					1																	27332861		2202	4295	6497	SO:0001819	synonymous_variant	115572							g.chr1:27332861G>A	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.852C>T	1.37:g.27332861G>A							p.H284H	NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	1017	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	284						Silent	SNP	ENST00000289166.5	37	c.852C>T	CCDS294.2																																																																																				0.677	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		4	37	0	0	0	1	0	4	37				
MAML3	55534	broad.mit.edu	37	4	140811063	140811063	+	Silent	SNP	T	T	C	rs58015886|rs370122702		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:140811063T>C	ENST00000509479.2	-	2	2383	c.1527A>G	c.(1525-1527)caA>caG	p.Q509Q	MAML3_ENST00000398940.1_Silent_p.Q37Q|MAML3_ENST00000327122.5_Silent_p.Q353Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TTGAGtgctgttgctgctgct	0.507																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1525-1527)caA>caG		mastermind-like 3 (Drosophila)							51.0	59.0	56.0					4																	140811063		2181	4290	6471	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811063T>C	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1527A>G	4.37:g.140811063T>C						MAML3_ENST00000398940.1_Silent_p.Q37Q|MAML3_ENST00000327122.5_Silent_p.Q353Q	p.Q509Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2383	-	all_hematologic(180;0.162)		506			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1527A>G	CCDS54805.1																																																																																				0.507	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			47	14	0	0	0	1	0	47	14				
LTN1	26046	broad.mit.edu	37	21	30325538	30325538	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:30325538C>T	ENST00000361371.5	-	17	3319		c.e17+1		LTN1_ENST00000389194.2_Splice_Site			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1						protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GAGATTCTTACCTGTTAAATA	0.333																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.e17+1		listerin E3 ubiquitin protein ligase 1							57.0	57.0	57.0					21																	30325538		2203	4300	6503	SO:0001630	splice_region_variant	26046						ligase activity|zinc ion binding	g.chr21:30325538C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3239+1G>A	21.37:g.30325538C>T						LTN1_ENST00000389194.2_Splice_Site		NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			17	3390	-								A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	ENST00000361371.5	37			.	.	.	.	.	.	.	.	.	.	C	17.42	3.384980	0.61956	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8301	0.92135	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTN1	29247409	1.000000	0.71417	0.998000	0.56505	0.623000	0.37688	4.836000	0.62789	2.767000	0.95098	0.655000	0.94253	.		0.333	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	Intron	23	44	0	0	0	1	0	23	44				
PIWIL3	440822	broad.mit.edu	37	22	25145416	25145416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:25145416C>T	ENST00000332271.5	-	11	1705	c.1289G>A	c.(1288-1290)aGa>aAa	p.R430K	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R321K|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R321K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	430					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATGCCTTCTTCTTGGACTCAA	0.353																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1288-1290)aGa>aAa		piwi-like RNA-mediated gene silencing 3							161.0	132.0	142.0					22																	25145416		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25145416C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1289G>A	22.37:g.25145416C>T	ENSP00000330031:p.Arg430Lys					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R321K|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R321K	p.R430K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			11	1705	-			430						Missense_Mutation	SNP	ENST00000332271.5	37	c.1289G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	1.907	-0.451759	0.04572	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.09255	3.0;3.0;3.0	2.81	-0.22	0.13130	Argonaute/Dicer protein, PAZ (2);Ribonuclease H-like (1);	0.919358	0.09075	U	0.852286	T	0.03348	0.0097	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.12630	0.001;0.006;0.002	B;B;B	0.12837	0.004;0.008;0.001	T	0.44982	-0.9292	10	0.07482	T	0.82	-0.4719	3.0776	0.06252	0.2653:0.1308:0.0:0.6039	.	321;430;430	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	K	430;321;321	ENSP00000330031:R430K;ENSP00000431843:R321K;ENSP00000435718:R321K	ENSP00000330031:R430K	R	-	2	0	PIWIL3	23475416	0.018000	0.18449	0.000000	0.03702	0.002000	0.02628	1.875000	0.39578	-0.185000	0.10550	-0.680000	0.03767	AGA		0.353	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		26	45	0	0	0	1	0	26	45				
OLFML2B	25903	broad.mit.edu	37	1	161976097	161976097	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161976097G>A	ENST00000294794.3	-	4	1136	c.713C>T	c.(712-714)gCc>gTc	p.A238V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A238V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	238	Poly-Ala.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCTGGGTGGGCGTAGGCTGC	0.522																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(712-714)gCc>gTc		olfactomedin-like 2B							145.0	134.0	138.0					1																	161976097		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161976097G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.713C>T	1.37:g.161976097G>A	ENSP00000294794:p.Ala238Val					OLFML2B_ENST00000367940.2_Missense_Mutation_p.A238V	p.A238V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		4	1136	-	all_hematologic(112;0.156)		238			Poly-Ala.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.713C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068045	0.55539	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.46451	0.87;0.93	4.79	4.79	0.61399	.	.	.	.	.	T	0.22475	0.0542	L	0.40543	1.245	0.26028	N	0.981772	B;B	0.19445	0.036;0.009	B;B	0.15484	0.013;0.007	T	0.07481	-1.0770	8	0.44086	T	0.13	.	15.6809	0.77367	0.0:0.0:1.0:0.0	.	238;238	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	V	238	ENSP00000294794:A238V;ENSP00000356917:A238V	ENSP00000294794:A238V	A	-	2	0	OLFML2B	160242721	0.957000	0.32711	0.994000	0.49952	0.915000	0.54546	2.669000	0.46825	2.358000	0.79984	0.561000	0.74099	GCC		0.522	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		27	59	0	0	0	1	0	27	59				
SDK2	54549	broad.mit.edu	37	17	71335036	71335036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:71335036G>A	ENST00000392650.3	-	45	6209	c.6209C>T	c.(6208-6210)gCc>gTc	p.A2070V	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.A2051V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2070					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AAAGGAGTGGGCCTTCTGGTG	0.582																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6208-6210)gCc>gTc		sidekick cell adhesion molecule 2							212.0	189.0	197.0					17																	71335036		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71335036G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6209C>T	17.37:g.71335036G>A	ENSP00000376421:p.Ala2070Val					SDK2_ENST00000388726.3_Missense_Mutation_p.A2051V|SDK2_ENST00000410094.1_5'UTR	p.A2070V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			45	6209	-			2070					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6209C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998895	0.54147	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.59083	0.29;0.31;1.59	4.72	4.72	0.59763	.	0.063717	0.64402	D	0.000006	T	0.35799	0.0944	N	0.03608	-0.345	0.37574	D	0.919556	B;B	0.32731	0.263;0.382	B;B	0.32624	0.045;0.149	T	0.51725	-0.8669	10	0.66056	D	0.02	.	14.1551	0.65413	0.0:0.1509:0.8491:0.0	.	2070;2051	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	V	1694;2070;2051;1227;2070;411	ENSP00000376421:A2070V;ENSP00000373378:A2051V;ENSP00000407098:A1227V	ENSP00000324967:A2070V	A	-	2	0	SDK2	68846631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.686000	0.84128	2.172000	0.68678	0.655000	0.94253	GCC		0.582	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		6	31	0	0	0	1	0	6	31				
DLL1	28514	broad.mit.edu	37	6	170597341	170597341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:170597341G>A	ENST00000366756.3	-	4	989	c.656C>T	c.(655-657)cCc>cTc	p.P219L	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	219	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGTGCAGTAGGGCCCTTTCCA	0.672																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(655-657)cCc>cTc		delta-like 1 (Drosophila)							64.0	54.0	58.0					6																	170597341		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170597341G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.656C>T	6.37:g.170597341G>A	ENSP00000355718:p.Pro219Leu						p.P219L	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	4	989	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	219			DSL.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.656C>T	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701508	0.30142	.	.	ENSG00000198719	ENST00000366756	T	0.13196	2.61	4.25	1.83	0.25207	Delta/Serrate/lag-2 (DSL) protein (3);	0.204155	0.43260	D	0.000593	T	0.03095	0.0091	L	0.33710	1.025	0.37083	D	0.899092	B;B	0.09022	0.0;0.002	B;B	0.08055	0.003;0.002	T	0.32481	-0.9905	10	0.35671	T	0.21	.	5.5428	0.17047	0.2793:0.0:0.1965:0.5242	.	219;219	B5M0B3;O00548	.;DLL1_HUMAN	L	219	ENSP00000355718:P219L	ENSP00000355718:P219L	P	-	2	0	DLL1	170439266	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	1.374000	0.34283	0.168000	0.19655	-0.448000	0.05591	CCC		0.672	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			15	35	0	0	0	1	0	15	35				
ASAP1	50807	broad.mit.edu	37	8	131172135	131172135	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:131172135C>T	ENST00000518721.1	-	12	1212	c.985G>A	c.(985-987)Ggg>Agg	p.G329R	ASAP1_ENST00000357668.1_Missense_Mutation_p.G329R	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	329	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCAGGTACCCCTTCTTTTCA	0.443																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(985-987)Ggg>Agg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							203.0	186.0	192.0					8																	131172135		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131172135C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.985G>A	8.37:g.131172135C>T	ENSP00000429900:p.Gly329Arg					ASAP1_ENST00000518721.1_Missense_Mutation_p.G329R	p.G329R			Q9ULH1	ASAP1_HUMAN			11	1012	-			329			PH.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.985G>A	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.090523|5.090523	0.94149|0.94149	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|T;T;T	.|0.60299	.|0.2;0.2;0.2	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.84633|0.84633	0.5515|0.5515	H|H	0.96633|0.96633	3.855|3.855	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.89065|0.89065	0.3465|0.3465	6|10	.|0.87932	.|D	.|0	.|.	17.7873|17.7873	0.88542|0.88542	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|329;329;332	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	E|R	149|332;329;329;299	.|ENSP00000350297:G329R;ENSP00000429900:G329R;ENSP00000430588:G299R	.|ENSP00000344591:G332R	G|G	-|-	2|1	0|0	ASAP1|ASAP1	131241317|131241317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	7.099000|7.099000	0.76981|0.76981	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGG|GGG		0.443	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		6	127	0	0	0	1	0	6	127				
PLA2G4D	283748	broad.mit.edu	37	15	42373290	42373290	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42373290C>T	ENST00000290472.3	-	12	1093	c.999G>A	c.(997-999)cgG>cgA	p.R333R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	333	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGGTCATGGCCCGGGCACCTC	0.592																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(997-999)cgG>cgA		phospholipase A2, group IVD (cytosolic)							118.0	93.0	101.0					15																	42373290		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42373290C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.999G>A	15.37:g.42373290C>T							p.R333R	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	12	1093	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	333			PLA2c.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.999G>A	CCDS32203.1																																																																																				0.592	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		7	62	0	0	0	1	0	7	62				
RPS6KB1	6198	broad.mit.edu	37	17	58018248	58018248	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:58018248C>T	ENST00000225577.4	+	13	1192	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.P391S|RP11-178C3.1_ENST00000591035.1_5'Flank|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.P338S|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.P368S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	391	AGC-kinase C-terminal.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACGTCAGACACCTGTCGACAG	0.363																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1171-1173)Cct>Tct		ribosomal protein S6 kinase, 70kDa, polypeptide 1							69.0	76.0	73.0					17																	58018248		1349	2286	3635	SO:0001583	missense	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58018248C>T	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.1171C>T	17.37:g.58018248C>T	ENSP00000225577:p.Pro391Ser					RPS6KB1_ENST00000406116.3_Missense_Mutation_p.P391S|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.P368S|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.P338S	p.P391S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		13	1192	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		391			AGC-kinase C-terminal.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	37	c.1171C>T	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915951	0.92178	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.4	5.4	0.78164	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86091	0.5850	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.996	D	0.90118	0.4197	10	0.87932	D	0	.	19.2548	0.93941	0.0:1.0:0.0:0.0	.	368;391;391	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	S	368;391;391;338	ENSP00000441993:P368S;ENSP00000384335:P391S;ENSP00000225577:P391S;ENSP00000376744:P338S	ENSP00000225577:P391S	P	+	1	0	RPS6KB1	55373030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.447000	0.80620	2.549000	0.85964	0.644000	0.83932	CCT		0.363	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		27	48	0	0	0	1	0	27	48				
CD109	135228	broad.mit.edu	37	6	74493459	74493459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:74493459C>T	ENST00000287097.5	+	19	2247	c.2135C>T	c.(2134-2136)aCt>aTt	p.T712I	CD109_ENST00000422508.2_Missense_Mutation_p.T635I|CD109_ENST00000437994.2_Missense_Mutation_p.T712I			Q6YHK3	CD109_HUMAN	CD109 molecule	712					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTGAAGTAACTGTACCTGAT	0.353																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2134-2136)aCt>aTt		CD109 molecule							131.0	118.0	122.0					6																	74493459		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74493459C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2135C>T	6.37:g.74493459C>T	ENSP00000287097:p.Thr712Ile					CD109_ENST00000287097.5_Missense_Mutation_p.T712I|CD109_ENST00000422508.2_Missense_Mutation_p.T635I	p.T712I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			19	2566	+			712					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.2135C>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163363	0.57476	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.27890	1.64;1.64;1.64	5.16	3.34	0.38264	Alpha-2-macroglobulin (1);	0.154690	0.64402	N	0.000020	T	0.34106	0.0886	M	0.74389	2.26	0.37352	D	0.91086	D;D;D	0.61080	0.958;0.989;0.975	P;P;P	0.59487	0.601;0.858;0.807	T	0.30504	-0.9976	10	0.66056	D	0.02	.	6.4322	0.21803	0.1292:0.6628:0.0:0.208	.	635;712;712	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	712;635;712	ENSP00000388062:T712I;ENSP00000404475:T635I;ENSP00000287097:T712I	ENSP00000287097:T712I	T	+	2	0	CD109	74550180	0.966000	0.33281	1.000000	0.80357	0.720000	0.41350	1.181000	0.32017	1.401000	0.46761	0.650000	0.86243	ACT		0.353	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		14	58	0	0	0	1	0	14	58				
KMT2C	58508	broad.mit.edu	37	7	151935791	151935791	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151935791C>T	ENST00000262189.6	-	15	2871		c.e15+1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTTTATTTACCACTTTGATG	0.398																																						ENST00000355193.2																			0											c.e15+1		lysine (K)-specific methyltransferase 2C							27.0	30.0	29.0					7																	151935791		2158	4246	6404	SO:0001630	splice_region_variant	58508							g.chr7:151935791C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2652+1G>A	7.37:g.151935791C>T						KMT2C_ENST00000262189.6_Splice_Site								15	2871	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37		CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467428	0.84533	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8258	0.96617	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151566724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.749000	0.94314	0.650000	0.86243	.		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	17	98	0	0	0	1	0	17	98				
HRASLS2	54979	broad.mit.edu	37	11	63326120	63326120	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:63326120C>T	ENST00000255695.1	-	3	189	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	44					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CGCACCAGCTCCAGCAATTTC	0.582																																						ENST00000255695.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(130-132)gGa>gAa		HRAS-like suppressor 2							118.0	105.0	109.0					11																	63326120		2201	4298	6499	SO:0001583	missense	54979				lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	g.chr11:63326120C>T		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.131G>A	11.37:g.63326120C>T	ENSP00000255695:p.Gly44Glu						p.G44E	NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN			3	189	-			44					B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	37	c.131G>A	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098786	0.37048	.	.	ENSG00000133328	ENST00000255695	T	0.21543	2.0	4.15	3.23	0.37069	.	0.195513	0.31897	U	0.006890	T	0.17238	0.0414	L	0.32530	0.975	0.09310	N	0.999999	P	0.34412	0.453	P	0.47206	0.541	T	0.37244	-0.9714	10	0.02654	T	1	-18.0771	5.2973	0.15758	0.0:0.6765:0.211:0.1125	.	44	Q9NWW9	HRSL2_HUMAN	E	44	ENSP00000255695:G44E	ENSP00000255695:G44E	G	-	2	0	HRASLS2	63082696	0.004000	0.15560	0.086000	0.20670	0.010000	0.07245	1.012000	0.29924	2.302000	0.77476	0.467000	0.42956	GGA		0.582	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	NM_017878		4	92	0	0	0	1	0	4	92				
RGS11	8786	broad.mit.edu	37	16	319557	319557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:319557C>T	ENST00000397770.3	-	16	1251	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	RGS11_ENST00000316163.5_Missense_Mutation_p.D391N|ITFG3_ENST00000600536.1_3'UTR|ARHGDIG_ENST00000464609.1_Intron|ITFG3_ENST00000442458.2_3'UTR|RGS11_ENST00000359740.5_Missense_Mutation_p.D401N			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	412	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TTGTACATGTCAGACTTCAGG	0.642																																						ENST00000397770.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(1234-1236)Gac>Aac		regulator of G-protein signaling 11							71.0	68.0	69.0					16																	319557		2203	4300	6503	SO:0001583	missense	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:319557C>T	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.1234G>A	16.37:g.319557C>T	ENSP00000380876:p.Asp412Asn					RGS11_ENST00000359740.5_Missense_Mutation_p.D401N|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.D391N|ITFG3_ENST00000600536.1_3'UTR|ITFG3_ENST00000442458.2_3'UTR	p.D412N			O94810	RGS11_HUMAN			16	1251	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	412			RGS.		O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	c.1234G>A	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979694	0.34942	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.02050	4.48;4.48;4.48	4.42	4.42	0.53409	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.243426	0.40818	N	0.001007	T	0.08358	0.0208	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.65140	0.888;0.932;0.932	T	0.40421	-0.9564	10	0.30854	T	0.27	-4.9771	15.6205	0.76802	0.0:1.0:0.0:0.0	.	401;412;412	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	N	412;391;401	ENSP00000380876:D412N;ENSP00000319069:D391N;ENSP00000352778:D401N	ENSP00000319069:D391N	D	-	1	0	RGS11	259558	0.992000	0.36948	0.034000	0.17996	0.119000	0.20118	3.177000	0.50871	2.009000	0.58944	0.462000	0.41574	GAC		0.642	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			23	22	0	0	0	1	0	23	22				
RHOT2	89941	broad.mit.edu	37	16	721950	721950	+	Missense_Mutation	SNP	G	G	A	rs367626329		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:721950G>A	ENST00000315082.4	+	13	1159	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	349					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCACGCACAGTCCGCACAGA	0.701																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1045-1047)Gtc>Atc		ras homolog family member T2							49.0	61.0	57.0					16																	721950		2201	4296	6497	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721950G>A	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1045G>A	16.37:g.721950G>A	ENSP00000321971:p.Val349Ile						p.V349I	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			13	1159	+		Hepatocellular(780;0.0218)	349					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1045G>A	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819628	0.71028	.	.	ENSG00000140983	ENST00000315082	T	0.09445	2.98	5.31	4.35	0.52113	EF hand associated, type-1 (1);	0.054374	0.64402	N	0.000001	T	0.15869	0.0382	L	0.37697	1.125	0.42455	D	0.992766	P	0.45396	0.857	P	0.51453	0.67	T	0.01480	-1.1344	10	0.49607	T	0.09	-10.8676	12.3438	0.55109	0.0824:0.0:0.9176:0.0	.	349	Q8IXI1	MIRO2_HUMAN	I	349	ENSP00000321971:V349I	ENSP00000321971:V349I	V	+	1	0	RHOT2	661951	1.000000	0.71417	0.022000	0.16811	0.007000	0.05969	6.583000	0.74053	1.255000	0.44051	0.456000	0.33151	GTC		0.701	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		4	74	0	0	0	1	0	4	74				
LRRC8A	56262	broad.mit.edu	37	9	131678645	131678645	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:131678645G>A	ENST00000259324.5	+	4	2951	c.2428G>A	c.(2428-2430)Gcc>Acc	p.A810T	LRRC8A_ENST00000372600.4_Missense_Mutation_p.A810T|LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A810T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	810					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)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CAAGGAGCAGGCCTGAGCGAG	0.677																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(2428-2430)Gcc>Acc		leucine rich repeat containing 8 family, member A							23.0	25.0	24.0					9																	131678645		2202	4300	6502	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131678645G>A	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.2428G>A	9.37:g.131678645G>A	ENSP00000259324:p.Ala810Thr					LRRC8A_ENST00000372600.4_Missense_Mutation_p.A810T|LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A810T	p.A810T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			4	2951	+			810					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.2428G>A	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478185	0.44044	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.29917	1.55;1.55;1.55	5.03	5.03	0.67393	.	0.154015	0.64402	D	0.000020	T	0.18509	0.0444	N	0.08118	0	0.49213	D	0.999764	B	0.18741	0.03	B	0.18871	0.023	T	0.05683	-1.0870	10	0.66056	D	0.02	.	13.9369	0.64029	0.0:0.0:0.8477:0.1523	.	810	Q8IWT6	LRC8A_HUMAN	T	810	ENSP00000361682:A810T;ENSP00000361680:A810T;ENSP00000259324:A810T	ENSP00000259324:A810T	A	+	1	0	LRRC8A	130718466	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	7.565000	0.82337	2.337000	0.79520	0.313000	0.20887	GCC		0.677	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		8	17	0	0	0	1	0	8	17				
HOXB6	3216	broad.mit.edu	37	17	46673796	46673796	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:46673796C>T	ENST00000484302.2	-	3	1276	c.654G>A	c.(652-654)gaG>gaA	p.E218E	HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000474324.1_RNA|HOXB5_ENST00000239151.5_5'Flank|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB6_ENST00000225648.3_Silent_p.E218E|HOXB-AS3_ENST00000466037.2_RNA			P17509	HXB6_HUMAN	homeobox B6	218	Poly-Glu.				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)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTTTTTCTTCCTCCTCCTCGG	0.587																																						ENST00000484302.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(652-654)gaG>gaA		homeobox B6							192.0	165.0	174.0					17																	46673796		2203	4300	6503	SO:0001819	synonymous_variant	3216				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46673796C>T		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.654G>A	17.37:g.46673796C>T						HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB6_ENST00000225648.3_Silent_p.E218E|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA	p.E218E			P17509	HXB6_HUMAN			3	1276	-			218			Poly-Glu.		A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Silent	SNP	ENST00000484302.2	37	c.654G>A	CCDS11531.1																																																																																				0.587	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2			13	200	0	0	0	1	0	13	200				
ATP8A1	10396	broad.mit.edu	37	4	42505531	42505531	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:42505531C>T	ENST00000381668.5	-	24	2318	c.2087G>A	c.(2086-2088)gGa>gAa	p.G696E	ATP8A1_ENST00000264449.10_Splice_Site_p.G681E	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	696					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCAGGAGTGTCCTGTATCCAA	0.274																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.e24-1		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						59.0	64.0	62.0					4																	42505531		2203	4295	6498	SO:0001630	splice_region_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42505531C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2087-1G>A	4.37:g.42505531C>T						ATP8A1_ENST00000264449.10_Splice_Site_p.G681_splice	p.G696_splice	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			24	2318	-			696					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	ENST00000381668.5	37	c.2086_splice	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516181	0.85495	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.82893	-1.66;-1.66	5.53	5.53	0.82687	HAD-like domain (2);	0.060294	0.64402	D	0.000003	D	0.93327	0.7873	H	0.94658	3.565	0.80722	D	1	P;D	0.64830	0.88;0.994	P;P	0.61940	0.768;0.896	D	0.94509	0.7717	10	0.62326	D	0.03	.	19.4732	0.94971	0.0:1.0:0.0:0.0	.	681;696	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	E	696;681	ENSP00000371084:G696E;ENSP00000264449:G681E	ENSP00000264449:G681E	G	-	2	0	ATP8A1	42200288	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.174000	0.77620	2.622000	0.88805	0.591000	0.81541	GGA		0.274	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	Missense_Mutation	4	69	0	0	0	1	0	4	69				
SLC26A2	1836	broad.mit.edu	37	5	149360295	149360295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149360295C>T	ENST00000286298.4	+	3	1407	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	380					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AACCTAATTCCTAGTGTGGCT	0.373																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1138-1140)cCt>cTt		solute carrier family 26 (anion exchanger), member 2							102.0	96.0	98.0					5																	149360295		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360295C>T	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1139C>T	5.37:g.149360295C>T	ENSP00000286298:p.Pro380Leu						p.P380L	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1407	+			380					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1139C>T	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239826	0.39598	.	.	ENSG00000155850	ENST00000286298	D	0.92397	-3.03	5.6	5.6	0.85130	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94145	0.8122	M	0.62723	1.935	0.80722	D	1	P	0.48350	0.909	P	0.57620	0.824	D	0.93591	0.6921	10	0.46703	T	0.11	.	15.1392	0.72599	0.0:0.8592:0.1408:0.0	.	380	P50443	S26A2_HUMAN	L	380	ENSP00000286298:P380L	ENSP00000286298:P380L	P	+	2	0	SLC26A2	149340488	1.000000	0.71417	0.956000	0.39512	0.960000	0.62799	7.770000	0.85390	2.626000	0.88956	0.650000	0.86243	CCT		0.373	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		6	78	0	0	0	1	0	6	78				
RAD51AP2	729475	broad.mit.edu	37	2	17697118	17697118	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:17697118C>G	ENST00000399080.2	-	1	2588	c.2565G>C	c.(2563-2565)aaG>aaC	p.K855N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	855										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTTTTCTATCTTAGTATCTT	0.289																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2563-2565)aaG>aaC		RAD51 associated protein 2							46.0	44.0	45.0					2																	17697118		1810	4065	5875	SO:0001583	missense	729475							g.chr2:17697118C>G	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2565G>C	2.37:g.17697118C>G	ENSP00000382030:p.Lys855Asn						p.K855N	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	2588	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		855						Missense_Mutation	SNP	ENST00000399080.2	37	c.2565G>C	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.594	-0.831959	0.02713	.	.	ENSG00000214842	ENST00000399080	T	0.26810	1.71	5.28	2.34	0.29019	.	.	.	.	.	T	0.13114	0.0318	N	0.24115	0.695	0.09310	N	1	B	0.21821	0.061	B	0.19391	0.025	T	0.37641	-0.9697	9	0.09843	T	0.71	-0.1014	4.5121	0.11917	0.3598:0.4396:0.1269:0.0738	.	855	Q09MP3	R51A2_HUMAN	N	855	ENSP00000382030:K855N	ENSP00000382030:K855N	K	-	3	2	RAD51AP2	17560599	0.000000	0.05858	0.010000	0.14722	0.095000	0.18619	-0.330000	0.07925	0.248000	0.21435	0.655000	0.94253	AAG		0.289	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		246	268	0	0	0	1	0	246	268				
TMEM67	91147	broad.mit.edu	37	8	94777673	94777673	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:94777673G>A	ENST00000453321.3	+	5	604	c.546G>A	c.(544-546)agG>agA	p.R182R	TMEM67_ENST00000409623.3_Silent_p.R101R	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	182					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATACCAGCAGGTCCTGTGCAT	0.294																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(544-546)agG>agA		transmembrane protein 67							74.0	79.0	77.0					8																	94777673		2203	4300	6503	SO:0001819	synonymous_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94777673G>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.546G>A	8.37:g.94777673G>A						TMEM67_ENST00000409623.3_Silent_p.R101R	p.R182R	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		5	604	+	Breast(36;4.14e-07)		182					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	c.546G>A	CCDS6258.2																																																																																				0.294	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		15	80	0	0	0	1	0	15	80				
PDIA3	2923	broad.mit.edu	37	15	44038774	44038774	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:44038774G>A	ENST00000300289.5	+	1	185	c.37G>A	c.(37-39)Gcg>Acg	p.A13T	PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR|CATSPER2P1_ENST00000381680.2_RNA	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	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 peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CCCGGGTGTGGCGCTGCTTCT	0.726																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(37-39)Gcg>Acg		protein disulfide isomerase family A, member 3							13.0	13.0	13.0					15																	44038774		2036	4040	6076	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44038774G>A		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.37G>A	15.37:g.44038774G>A	ENSP00000300289:p.Ala13Thr					PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR	p.A13T	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	1	185	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	13					Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.37G>A	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404531	0.62288	.	.	ENSG00000167004	ENST00000300289;ENST00000538826	T	0.04706	3.57	4.94	4.02	0.46733	.	0.316780	0.33364	N	0.004998	T	0.02970	0.0088	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50101	-0.8867	10	0.22109	T	0.4	.	8.1469	0.31117	0.0867:0.1592:0.7541:0.0	.	13	P30101	PDIA3_HUMAN	T	13	ENSP00000300289:A13T	ENSP00000300289:A13T	A	+	1	0	PDIA3	41826066	1.000000	0.71417	0.971000	0.41717	0.054000	0.15201	2.665000	0.46791	1.310000	0.45006	0.313000	0.20887	GCG		0.726	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		8	7	0	0	0	1	0	8	7				
EIF4E	1977	broad.mit.edu	37	4	99809055	99809055	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:99809055G>A	ENST00000450253.2	-	4	1794	c.270C>T	c.(268-270)gaC>gaT	p.D90D	EIF4E_ENST00000280892.6_Silent_p.D110D|EIF4E_ENST00000504432.1_Silent_p.D118D|EIF4E_ENST00000505992.1_Silent_p.D90D	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	90					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AAAGTGAGTAGTCACAGCCAG	0.294																																						ENST00000450253.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(268-270)gaC>gaT		eukaryotic translation initiation factor 4E							48.0	47.0	47.0					4																	99809055		2203	4295	6498	SO:0001819	synonymous_variant	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99809055G>A	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.270C>T	4.37:g.99809055G>A						EIF4E_ENST00000505992.1_Silent_p.D90D|EIF4E_ENST00000504432.1_Silent_p.D118D|EIF4E_ENST00000280892.6_Silent_p.D110D	p.D90D	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	4	1794	-			90					B7Z6V1|D6RCQ6|Q96E95	Silent	SNP	ENST00000450253.2	37	c.270C>T	CCDS34031.1																																																																																				0.294	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		19	47	0	0	0	1	0	19	47				
EMC1	23065	broad.mit.edu	37	1	19568862	19568862	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19568862C>T	ENST00000477853.1	-	5	528	c.486G>A	c.(484-486)aaG>aaA	p.K162K	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.K140K|EMC1_ENST00000375199.3_Silent_p.K162K	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	162						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GTTCCACCCACTTGAGGTGCC	0.562																																						ENST00000477853.1																			0											c.(484-486)aaG>aaA		ER membrane protein complex subunit 1							143.0	124.0	130.0					1																	19568862		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19568862C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.486G>A	1.37:g.19568862C>T						EMC1_ENST00000375199.3_Silent_p.K162K|EMC1_ENST00000375208.3_Silent_p.K140K	p.K162K	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					5	528	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.486G>A	CCDS190.1																																																																																				0.562	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		30	49	0	0	0	1	0	30	49				
PEAR1	375033	broad.mit.edu	37	1	156884458	156884458	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156884458C>T	ENST00000338302.3	+	24	3207	c.2982C>T	c.(2980-2982)tcC>tcT	p.S994S	PEAR1_ENST00000292357.7_Silent_p.S994S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	994	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				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)					CTGTGGGCTCCCAGCCCCCTC	0.612																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(2980-2982)tcC>tcT		platelet endothelial aggregation receptor 1							107.0	102.0	104.0					1																	156884458		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156884458C>T	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.2982C>T	1.37:g.156884458C>T						PEAR1_ENST00000292357.7_Silent_p.S994S	p.S994S			Q5VY43	PEAR1_HUMAN			24	3207	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		994			Pro-rich.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.2982C>T	CCDS30892.1																																																																																				0.612	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		4	65	0	0	0	1	0	4	65				
SSPO	23145	broad.mit.edu	37	7	149486746	149486746	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149486746C>T	ENST00000378016.2	+	0	4520							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCTGGGGGCCATCCAGCTG	0.652																																						ENST00000378016.2																			0													SCO-spondin							24.0	31.0	29.0					7																	149486746		2030	4168	6198			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486746C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486746C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4520	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	18	0	0	0	1	0	5	18				
ATXN7L2	127002	broad.mit.edu	37	1	110034020	110034020	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:110034020G>A	ENST00000369870.3	+	10	1850	c.1835G>A	c.(1834-1836)gGg>gAg	p.G612E	CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000430195.2_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000533024.1_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000393709.3_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	612										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGAGCATGGGGCTTAATGGG	0.592																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1834-1836)gGg>gAg		ataxin 7-like 2							45.0	51.0	49.0					1																	110034020		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110034020G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1835G>A	1.37:g.110034020G>A	ENSP00000358886:p.Gly612Glu					ATXN7L2_ENST00000459635.1_3'UTR	p.G612E	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1850	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	612						Missense_Mutation	SNP	ENST00000369870.3	37	c.1835G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065339	0.36470	.	.	ENSG00000162650	ENST00000369870;ENST00000369869	T	0.30182	1.54	4.97	4.97	0.65823	.	0.423844	0.20379	N	0.093498	T	0.15869	0.0382	N	0.19112	0.55	0.32050	N	0.597049	P;P	0.46327	0.876;0.614	P;B	0.47864	0.559;0.182	T	0.03818	-1.1001	10	0.87932	D	0	-7.6444	11.4511	0.50154	0.0:0.1815:0.8185:0.0	.	239;612	Q5T6C4;Q5T6C5	.;AT7L2_HUMAN	E	612;239	ENSP00000358886:G612E	ENSP00000358885:G239E	G	+	2	0	ATXN7L2	109835543	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.944000	0.40263	2.575000	0.86900	0.462000	0.41574	GGG		0.592	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		7	40	0	0	0	1	0	7	40				
FCRL5	83416	broad.mit.edu	37	1	157494301	157494301	+	Silent	SNP	C	C	T	rs199994796		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:157494301C>T	ENST00000361835.3	-	10	2164	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	FCRL5_ENST00000368191.3_Silent_p.Q584Q|FCRL5_ENST00000356953.4_Silent_p.Q669Q|FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368190.3_Silent_p.Q669Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	669	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.Q669H(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCACCACAGCCTGGGCCCTGG	0.527																																						ENST00000361835.3																			1	Substitution - Missense(1)	p.Q669H(1)	lung(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2005-2007)caG>caA		Fc receptor-like 5							46.0	52.0	50.0					1																	157494301		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157494301C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2007G>A	1.37:g.157494301C>T						FCRL5_ENST00000356953.4_Silent_p.Q669Q|FCRL5_ENST00000368190.3_Silent_p.Q669Q|FCRL5_ENST00000368191.3_Silent_p.Q584Q	p.Q669Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			10	2164	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	669			Ig-like C2-type 7.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2007G>A	CCDS1165.1																																																																																				0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		18	24	0	0	0	1	0	18	24				
TSC2	7249	broad.mit.edu	37	16	2110739	2110739	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2110739G>A	ENST00000219476.3	+	11	1674	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	TSC2_ENST00000439673.2_Silent_p.K311K|TSC2_ENST00000382538.6_Silent_p.K299K|TSC2_ENST00000401874.2_Silent_p.K348K|TSC2_ENST00000353929.4_Silent_p.K348K|TSC2_ENST00000568454.1_Silent_p.K359K|TSC2_ENST00000350773.4_Silent_p.K348K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	348	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)			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)				TCATCAAGAAGTATAGGAAGG	0.607			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				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						c.(1042-1044)aaG>aaA		tuberous sclerosis 2							156.0	132.0	140.0					16																	2110739		2198	4300	6498	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2110739G>A	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.1044G>A	16.37:g.2110739G>A						TSC2_ENST00000401874.2_Silent_p.K348K|TSC2_ENST00000382538.6_Silent_p.K299K|TSC2_ENST00000353929.4_Silent_p.K348K|TSC2_ENST00000350773.4_Silent_p.K348K|TSC2_ENST00000568454.1_Silent_p.K359K|TSC2_ENST00000439673.2_Silent_p.K311K	p.K348K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			11	1674	+		Hepatocellular(780;0.0202)	348			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.1044G>A	CCDS10458.1																																																																																				0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		31	43	0	0	0	1	0	31	43				
LRP2	4036	broad.mit.edu	37	2	170072917	170072917	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:170072917C>T	ENST00000263816.3	-	35	5957	c.5672G>A	c.(5671-5673)gGa>gAa	p.G1891E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1891					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACTGTCAGTTCCTTGGTCTGA	0.458																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(5671-5673)gGa>gAa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						117.0	109.0	112.0					2																	170072917		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170072917C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5672G>A	2.37:g.170072917C>T	ENSP00000263816:p.Gly1891Glu						p.G1891E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	35	5957	-			1891					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.5672G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479636	0.84747	.	.	ENSG00000081479	ENST00000263816	D	0.96011	-3.88	5.72	4.85	0.62838	Six-bladed beta-propeller, TolB-like (1);	0.051686	0.85682	D	0.000000	D	0.98147	0.9388	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99004	1.0812	10	0.72032	D	0.01	.	14.7194	0.69294	0.0:0.9304:0.0:0.0696	.	1891	P98164	LRP2_HUMAN	E	1891	ENSP00000263816:G1891E	ENSP00000263816:G1891E	G	-	2	0	LRP2	169781163	1.000000	0.71417	0.974000	0.42286	0.957000	0.61999	7.818000	0.86416	1.416000	0.47057	0.650000	0.86243	GGA		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		31	39	0	0	0	1	0	31	39				
AHNAK	79026	broad.mit.edu	37	11	62287592	62287592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62287592G>A	ENST00000378024.4	-	5	14571	c.14297C>T	c.(14296-14298)aCc>aTc	p.T4766I	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4766					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCAGGGGTGTTGATGTC	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14296-14298)aCc>aTc		AHNAK nucleoprotein							196.0	189.0	191.0					11																	62287592		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287592G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14297C>T	11.37:g.62287592G>A	ENSP00000367263:p.Thr4766Ile					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.T4766I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14571	-		Melanoma(852;0.155)	4766					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14297C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.245359	0.01481	.	.	ENSG00000124942	ENST00000378024	T	0.00892	5.57	4.79	-3.81	0.04294	.	0.507362	0.16353	N	0.218110	T	0.00666	0.0022	N	0.11698	0.16	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.45011	-0.9290	10	0.27082	T	0.32	-5.1938	13.1077	0.59257	0.3817:0.0:0.6183:0.0	.	4766	Q09666	AHNK_HUMAN	I	4766	ENSP00000367263:T4766I	ENSP00000367263:T4766I	T	-	2	0	AHNAK	62044168	.	.	0.006000	0.13384	0.009000	0.06853	.	.	-0.451000	0.07097	0.478000	0.44815	ACC		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		98	228	0	0	0	1	0	98	228				
ZNF91	7644	broad.mit.edu	37	19	23542269	23542269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:23542269C>T	ENST00000300619.7	-	4	3717	c.3512G>A	c.(3511-3513)gGc>gAc	p.G1171D	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G1139D	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1171					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				tcgtgatccgcccgcctcggc	0.478																																						ENST00000300619.7																			0											c.(3511-3513)gGc>gAc		zinc finger protein 91							23.0	26.0	25.0					19																	23542269		2012	4167	6179	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542269C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3512G>A	19.37:g.23542269C>T	ENSP00000300619:p.Gly1171Asp					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G1139D	p.G1171D	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	3717	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1171					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3512G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	6.179	0.401238	0.11696	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05717	3.44;3.4	.	.	.	.	.	.	.	.	T	0.12135	0.0295	L	0.46157	1.445	0.22762	N	0.998765	D;B	0.63880	0.993;0.389	P;B	0.60236	0.871;0.157	T	0.18555	-1.0333	8	0.52906	T	0.07	.	5.5764	0.17225	0.0:0.9998:0.0:2.0E-4	.	1139;1171	Q05481-2;Q05481	.;ZNF91_HUMAN	D	1171;1139	ENSP00000300619:G1171D;ENSP00000380272:G1139D	ENSP00000300619:G1171D	G	-	2	0	ZNF91	23334109	0.044000	0.20184	0.120000	0.21714	0.121000	0.20230	0.289000	0.18957	0.088000	0.17205	0.089000	0.15464	GGC		0.478	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		11	17	0	0	0	1	0	11	17				
KIAA1549	57670	broad.mit.edu	37	7	138601868	138601868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:138601868C>T	ENST00000422774.1	-	2	2552	c.2504G>A	c.(2503-2505)gGt>gAt	p.G835D	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G785D|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G835D			Q9HCM3	K1549_HUMAN	KIAA1549	835						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAACACCGTACCAGTGGGAAT	0.547			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(2503-2505)gGt>gAt		KIAA1549							67.0	69.0	69.0					7																	138601868		2095	4229	6324	SO:0001583	missense	57670					integral to membrane		g.chr7:138601868C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2504G>A	7.37:g.138601868C>T	ENSP00000416040:p.Gly835Asp					KIAA1549_ENST00000422774.1_Missense_Mutation_p.G835D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G785D	p.G835D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	2552	-			835					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.2504G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	9.209	1.030562	0.19512	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22134	1.97;1.97;1.97	4.4	1.56	0.23342	.	0.669254	0.14452	N	0.318729	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	P;B	0.34462	0.454;0.358	B;B	0.33620	0.115;0.167	T	0.36187	-0.9758	10	0.11485	T	0.65	.	7.7392	0.28831	0.1176:0.514:0.3683:0.0	.	835;835	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	835;785;835	ENSP00000406661:G835D;ENSP00000242365:G785D;ENSP00000416040:G835D	ENSP00000242365:G785D	G	-	2	0	KIAA1549	138252408	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.256000	0.18351	0.144000	0.18951	0.561000	0.74099	GGT		0.547	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			11	45	0	0	0	1	0	11	45				
RNF20	56254	broad.mit.edu	37	9	104324285	104324285	+	Missense_Mutation	SNP	G	G	A	rs373104082		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:104324285G>A	ENST00000389120.3	+	19	2833	c.2743G>A	c.(2743-2745)Gat>Aat	p.D915N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	915					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGAGATTAAGGATTACAAGGT	0.403																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2743-2745)Gat>Aat		ring finger protein 20, E3 ubiquitin protein ligase							154.0	162.0	159.0					9																	104324285		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104324285G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2743G>A	9.37:g.104324285G>A	ENSP00000373772:p.Asp915Asn						p.D915N	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	19	2833	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	915					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2743G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011093	0.75046	.	.	ENSG00000155827	ENST00000389120	T	0.29655	1.56	5.58	5.58	0.84498	Zinc finger, RING/FYVE/PHD-type (1);	0.143367	0.64402	D	0.000005	T	0.21674	0.0522	N	0.08118	0	0.58432	D	0.999999	B	0.25521	0.128	B	0.29663	0.105	T	0.07462	-1.0771	10	0.38643	T	0.18	-20.6977	19.5262	0.95208	0.0:0.0:1.0:0.0	.	915	Q5VTR2	BRE1A_HUMAN	N	915	ENSP00000373772:D915N	ENSP00000373772:D915N	D	+	1	0	RNF20	103364106	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.373000	0.73128	2.778000	0.95560	0.655000	0.94253	GAT		0.403	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		45	66	0	0	0	1	0	45	66				
HUWE1	10075	broad.mit.edu	37	X	53600840	53600840	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:53600840C>T	ENST00000342160.3	-	46	6639	c.6182G>A	c.(6181-6183)gGc>gAc	p.G2061D	HUWE1_ENST00000262854.6_Missense_Mutation_p.G2061D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2061					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGTTTGCTGCCCTTGCCTTT	0.493																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(6181-6183)gGc>gAc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							274.0	200.0	225.0					X																	53600840		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53600840C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6182G>A	X.37:g.53600840C>T	ENSP00000340648:p.Gly2061Asp					HUWE1_ENST00000262854.6_Missense_Mutation_p.G2061D	p.G2061D			Q7Z6Z7	HUWE1_HUMAN			46	6639	-			2061					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.6182G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517237	0.64634	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.35789	1.29;1.29	5.89	5.89	0.94794	.	0.062950	0.64402	D	0.000005	T	0.37210	0.0995	N	0.14661	0.345	0.47009	D	0.999288	D;D	0.61080	0.982;0.989	P;P	0.58928	0.622;0.848	T	0.10314	-1.0635	10	0.10377	T	0.69	.	17.8223	0.88654	0.0:1.0:0.0:0.0	.	2061;2061	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	D	2061	ENSP00000340648:G2061D;ENSP00000262854:G2061D	ENSP00000262854:G2061D	G	-	2	0	HUWE1	53617565	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.765000	0.55272	2.482000	0.83794	0.544000	0.68410	GGC		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		10	78	0	0	0	1	0	10	78				
YIPF6	286451	broad.mit.edu	37	X	67731700	67731700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:67731700C>T	ENST00000462683.1	+	2	811	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	23					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GTTTGCAGGCCTTTCAGATAT	0.418																																						ENST00000462683.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(67-69)Ctt>Ttt		Yip1 domain family, member 6							147.0	132.0	137.0					X																	67731700		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67731700C>T	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.67C>T	X.37:g.67731700C>T	ENSP00000417573:p.Leu23Phe					YIPF6_ENST00000470730.1_3'UTR|YIPF6_ENST00000374622.2_Intron	p.L23F	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN			2	811	+			23					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.67C>T	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019498	0.35606	.	.	ENSG00000181704	ENST00000462683	T	0.50277	0.75	5.69	4.82	0.62117	.	0.138135	0.46758	D	0.000270	T	0.35219	0.0924	L	0.49350	1.555	0.80722	D	1	B	0.13594	0.008	B	0.12837	0.008	T	0.12734	-1.0536	10	0.07030	T	0.85	-1.3366	7.5222	0.27635	0.0:0.801:0.0:0.199	.	23	Q96EC8	YIPF6_HUMAN	F	23	ENSP00000417573:L23F	ENSP00000417573:L23F	L	+	1	0	YIPF6	67648425	0.996000	0.38824	0.998000	0.56505	0.990000	0.78478	1.787000	0.38704	1.149000	0.42402	0.596000	0.82720	CTT		0.418	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		20	117	0	0	0	1	0	20	117				
DRC7	84229	broad.mit.edu	37	16	57755643	57755643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:57755643C>T	ENST00000360716.3	+	10	1492	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	CCDC135_ENST00000336825.8_Missense_Mutation_p.S359F|CCDC135_ENST00000394337.4_Missense_Mutation_p.S424F			Q8IY82	CC135_HUMAN		424					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATTGAGATCTCCCCGGAAGGT	0.562																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1270-1272)tCc>tTc		coiled-coil domain containing 135							117.0	102.0	107.0					16																	57755643		2197	4300	6497	SO:0001583	missense	84229					cytoplasm		g.chr16:57755643C>T																												ENST00000360716.3:c.1271C>T	16.37:g.57755643C>T	ENSP00000353942:p.Ser424Phe					CCDC135_ENST00000336825.8_Missense_Mutation_p.S359F|CCDC135_ENST00000394337.4_Missense_Mutation_p.S424F	p.S424F			Q8IY82	CC135_HUMAN			10	1492	+			424					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1271C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	19.99	3.928878	0.73327	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.13538	2.58;2.58;2.58	4.96	4.96	0.65561	.	0.459954	0.23819	N	0.044246	T	0.32912	0.0845	M	0.78637	2.42	0.37768	D	0.926553	D;D	0.55800	0.971;0.973	P;P	0.57057	0.736;0.812	T	0.31138	-0.9954	10	0.72032	D	0.01	-30.1647	13.7152	0.62691	0.0:1.0:0.0:0.0	.	359;424	Q8IY82-2;Q8IY82	.;CC135_HUMAN	F	424;359;424	ENSP00000377869:S424F;ENSP00000338938:S359F;ENSP00000353942:S424F	ENSP00000338938:S359F	S	+	2	0	CCDC135	56313144	0.998000	0.40836	1.000000	0.80357	0.723000	0.41478	5.093000	0.64517	2.302000	0.77476	0.651000	0.88453	TCC		0.562	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			3	30	0	0	0	1	0	3	30				
CSRNP2	81566	broad.mit.edu	37	12	51458071	51458071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:51458071G>A	ENST00000228515.1	-	5	1387	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	364					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						ACAGCCAGAGGCTCCTCTAGG	0.602																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(1090-1092)Cct>Tct		cysteine-serine-rich nuclear protein 2							58.0	64.0	62.0					12																	51458071		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51458071G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1090C>T	12.37:g.51458071G>A	ENSP00000228515:p.Pro364Ser						p.P364S	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			5	1387	-			364						Missense_Mutation	SNP	ENST00000228515.1	37	c.1090C>T	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530800	0.64860	.	.	ENSG00000110925	ENST00000228515	T	0.42900	0.96	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	N	0.24115	0.695	0.45607	D	0.99854	D	0.54207	0.965	P	0.47470	0.548	T	0.24657	-1.0154	10	0.51188	T	0.08	-20.0033	18.3973	0.90502	0.0:0.0:1.0:0.0	.	364	Q9H175	CSRN2_HUMAN	S	364	ENSP00000228515:P364S	ENSP00000228515:P364S	P	-	1	0	CSRNP2	49744338	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.896000	0.48656	2.728000	0.93425	0.555000	0.69702	CCT		0.602	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			43	62	0	0	0	1	0	43	62				
FLNC	2318	broad.mit.edu	37	7	128493055	128493055	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:128493055G>A	ENST00000325888.8	+	37	6439	c.6178G>A	c.(6178-6180)Gca>Aca	p.A2060T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2027T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2060					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)			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						ATTCCAGGTGGCAGAGTTCAT	0.637																																						ENST00000325888.8																			0				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						c.(6178-6180)Gca>Aca		filamin C, gamma							47.0	53.0	51.0					7																	128493055		2069	4212	6281	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493055G>A	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.6178G>A	7.37:g.128493055G>A	ENSP00000327145:p.Ala2060Thr					FLNC_ENST00000346177.6_Missense_Mutation_p.A2027T|RP11-309L24.2_ENST00000469965.1_RNA	p.A2060T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			37	6439	+			2060					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6178G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594328	0.46214	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84873	-1.91;-1.91	5.7	3.77	0.43336	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.057293	0.64402	D	0.000002	D	0.86657	0.5985	L	0.42581	1.335	0.40324	D	0.97885	B;B	0.31459	0.324;0.072	P;B	0.48677	0.586;0.161	D	0.85183	0.1005	10	0.36615	T	0.2	.	13.937	0.64032	0.0:0.0:0.6234:0.3766	.	2027;2060	Q14315-2;Q14315	.;FLNC_HUMAN	T	2060;2027	ENSP00000327145:A2060T;ENSP00000344002:A2027T	ENSP00000327145:A2060T	A	+	1	0	FLNC	128280291	1.000000	0.71417	0.997000	0.53966	0.707000	0.40811	1.463000	0.35277	1.379000	0.46325	0.655000	0.94253	GCA		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			14	51	0	0	0	1	0	14	51				
ACTR3B	57180	broad.mit.edu	37	7	152497626	152497626	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:152497626C>T	ENST00000256001.8	+	3	245	c.111C>T	c.(109-111)atC>atT	p.I37I	ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000377776.3_Silent_p.I37I|ACTR3B_ENST00000397282.2_5'UTR	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	37						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GTATTGCCATCAGAGAGTCAG	0.368																																						ENST00000256001.8																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(109-111)atC>atT		ARP3 actin-related protein 3 homolog B (yeast)							118.0	113.0	115.0					7																	152497626		2203	4300	6503	SO:0001819	synonymous_variant	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152497626C>T		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.111C>T	7.37:g.152497626C>T						ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000397282.2_5'UTR|ACTR3B_ENST00000377776.3_Silent_p.I37I	p.I37I	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	3	245	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	37					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	ENST00000256001.8	37	c.111C>T	CCDS5934.1																																																																																				0.368	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		22	90	0	0	0	1	0	22	90				
MARCH6	10299	broad.mit.edu	37	5	10415761	10415761	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:10415761G>A	ENST00000274140.5	+	21	2260	c.2128G>A	c.(2128-2130)Gtt>Att	p.V710I	MARCH6_ENST00000510792.1_Missense_Mutation_p.V408I|MARCH6_ENST00000449913.2_Missense_Mutation_p.V662I|MARCH6_ENST00000503788.1_Missense_Mutation_p.V605I	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	710					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTTCCAGAAGGTTAAAGAGTG	0.418																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2128-2130)Gtt>Att		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							193.0	174.0	180.0					5																	10415761		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10415761G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2128G>A	5.37:g.10415761G>A	ENSP00000274140:p.Val710Ile					MARCH6_ENST00000449913.2_Missense_Mutation_p.V662I|MARCH6_ENST00000510792.1_Missense_Mutation_p.V408I|MARCH6_ENST00000503788.1_Missense_Mutation_p.V605I	p.V710I	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			21	2260	+			710					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2128G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616904	0.46736	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.42131	1.97;0.98;1.98;0.99	5.85	5.85	0.93711	.	0.056860	0.64402	D	0.000001	T	0.28134	0.0694	N	0.12663	0.25	0.80722	D	1	B;B;B;B	0.12630	0.002;0.001;0.006;0.001	B;B;B;B	0.10450	0.005;0.002;0.005;0.001	T	0.13683	-1.0500	10	0.10636	T	0.68	-23.8707	20.1649	0.98147	0.0:0.0:1.0:0.0	.	605;662;290;710	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	I	662;605;710;408	ENSP00000414643:V662I;ENSP00000425930:V605I;ENSP00000274140:V710I;ENSP00000424512:V408I	ENSP00000274140:V710I	V	+	1	0	MARCH6	10468761	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	6.250000	0.72435	2.753000	0.94483	0.655000	0.94253	GTT		0.418	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		7	25	0	0	0	1	0	7	25				
WNT8B	7479	broad.mit.edu	37	10	102240873	102240873	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:102240873G>A	ENST00000343737.5	+	4	488	c.360G>A	c.(358-360)ggG>ggA	p.G120G		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	120					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CCCGCAACGGGCAACTGGGTG	0.493																																						ENST00000343737.5																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(358-360)ggG>ggA		wingless-type MMTV integration site family, member 8B							89.0	80.0	83.0					10																	102240873		2203	4300	6503	SO:0001819	synonymous_variant	7479				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr10:102240873G>A	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.360G>A	10.37:g.102240873G>A							p.G120G	NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	4	488	+		Colorectal(252;0.117)	120					O00771|Q5VX55|Q8WYK9	Silent	SNP	ENST00000343737.5	37	c.360G>A	CCDS7494.1																																																																																				0.493	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		17	27	0	0	0	1	0	17	27				
PHTF2	57157	broad.mit.edu	37	7	77551985	77551985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:77551985G>A	ENST00000248550.7	+	10	1085	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	PHTF2_ENST00000422959.2_Missense_Mutation_p.E303K|PHTF2_ENST00000307305.8_Missense_Mutation_p.E299K|PHTF2_ENST00000416283.2_Missense_Mutation_p.E303K|PHTF2_ENST00000424760.1_Missense_Mutation_p.E299K|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000415251.2_Missense_Mutation_p.E299K|PHTF2_ENST00000450574.1_Missense_Mutation_p.E303K|PHTF2_ENST00000275575.7_Missense_Mutation_p.E299K			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						AGTCTCCAGTGAGGAAGGTCC	0.398																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(907-909)Gag>Aag		putative homeodomain transcription factor 2							70.0	66.0	67.0					7																	77551985		1866	4092	5958	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77551985G>A	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1009G>A	7.37:g.77551985G>A	ENSP00000248550:p.Glu337Lys					PHTF2_ENST00000424760.1_Missense_Mutation_p.E299K|PHTF2_ENST00000415251.2_Missense_Mutation_p.E299K|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000422959.2_Missense_Mutation_p.E303K|PHTF2_ENST00000450574.1_Missense_Mutation_p.E303K|PHTF2_ENST00000307305.8_Missense_Mutation_p.E299K|PHTF2_ENST00000248550.7_Missense_Mutation_p.E337K|PHTF2_ENST00000275575.7_Missense_Mutation_p.E299K	p.E303K	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			9	1033	+			337					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.907G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.729891	0.96856	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.47	5.47	0.80525	.	0.053216	0.64402	D	0.000001	T	0.68007	0.2954	L	0.34521	1.04	0.80722	D	1	P;D;D;D;D;D;D;D;D	0.76494	0.882;0.961;0.998;0.999;0.989;0.991;0.999;0.978;0.991	P;P;D;D;D;P;D;P;P	0.81914	0.477;0.616;0.939;0.994;0.977;0.848;0.995;0.802;0.785	T	0.66015	-0.6028	9	0.38643	T	0.18	-15.4258	19.3157	0.94213	0.0:0.0:1.0:0.0	.	141;299;162;303;337;303;299;299;299	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;.;.;PHTF2_HUMAN;.;.;.;.	K	303;303;299;299;299;299;303;303;337	.	ENSP00000248550:E337K	E	+	1	0	PHTF2	77389921	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.393000	0.90182	2.571000	0.86741	0.467000	0.42956	GAG		0.398	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		9	32	0	0	0	1	0	9	32				
POPDC2	64091	broad.mit.edu	37	3	119373361	119373361	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:119373361C>T	ENST00000264231.3	-	2	757	c.591G>A	c.(589-591)ggG>ggA	p.G197G	POPDC2_ENST00000468801.1_Silent_p.G197G|POPDC2_ENST00000538678.1_Silent_p.G197G|POPDC2_ENST00000493094.1_Silent_p.G197G|POPDC2_ENST00000474523.1_5'UTR	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	197					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCTGGAACACCCCCTCCTCAG	0.557																																						ENST00000493094.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(589-591)ggG>ggA		popeye domain containing 2							82.0	77.0	79.0					3																	119373361		2203	4300	6503	SO:0001819	synonymous_variant	64091					integral to membrane		g.chr3:119373361C>T	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.591G>A	3.37:g.119373361C>T						POPDC2_ENST00000538678.1_Silent_p.G197G|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Silent_p.G197G|POPDC2_ENST00000264231.3_Silent_p.G197G	p.G197G			Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	2	1050	-			197					Q86UE7	Silent	SNP	ENST00000264231.3	37	c.591G>A	CCDS2992.1																																																																																				0.557	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		24	38	0	0	0	1	0	24	38				
GFOD1	54438	broad.mit.edu	37	6	13470508	13470508	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:13470508C>T	ENST00000379287.3	-	1	918				GFOD1_ENST00000379278.3_5'UTR|AL583828.1_ENST00000558378.1_Missense_Mutation_p.G2E|GFOD1_ENST00000603223.1_3'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CCTGGAATCCCCCATGCCAGC	0.562																																						ENST00000558378.1																			0											c.(4-6)gGg>gAg									26.0	22.0	23.0					6																	13470508		2203	4300	6503	SO:0001627	intron_variant	0							g.chr6:13470508C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16361G>A	6.37:g.13470508C>T						GFOD1_ENST00000379278.3_5'UTR|GFOD1_ENST00000379287.3_Intron|GFOD1_ENST00000603223.1_3'UTR	p.G2E							2	527	-								A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.5G>A	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425583	0.25639	.	.	ENSG00000187461	ENST00000379278	.	.	.	4.37	0.51	0.16983	.	.	.	.	.	T	0.20659	0.0497	.	.	.	0.09310	N	0.999997	D	0.60160	0.987	P	0.50405	0.64	T	0.06789	-1.0807	7	0.87932	D	0	.	3.7275	0.08480	0.0:0.502:0.1862:0.3119	.	2	Q9NXC2-3	.	E	2	.	ENSP00000368580:G2E	G	-	2	0	AL583828.1	13578487	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.331000	0.19733	0.201000	0.20466	-0.150000	0.13652	GGG		0.562	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		12	10	0	0	0	1	0	12	10				
CD93	22918	broad.mit.edu	37	20	23066097	23066097	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:23066097G>A	ENST00000246006.4	-	1	880	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	245					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)			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)					AACACATCGGGGGCCTTCTCC	0.587																																						ENST00000246006.4																			0				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						c.(733-735)Ccc>Tcc		CD93 molecule							97.0	95.0	95.0					20																	23066097		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066097G>A	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.733C>T	20.37:g.23066097G>A	ENSP00000246006:p.Pro245Ser						p.P245S	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	880	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		245					O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.733C>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	1.977	-0.435115	0.04669	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.79352	-1.26	5.52	-2.25	0.06888	.	1.068810	0.07289	N	0.872164	T	0.72811	0.3507	M	0.65975	2.015	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.58261	-0.7667	10	0.30078	T	0.28	-6.0277	10.1211	0.42621	0.0:0.4887:0.2015:0.3098	.	245	Q9NPY3	C1QR1_HUMAN	S	245	ENSP00000246006:P245S	ENSP00000246006:P245S	P	-	1	0	CD93	23014097	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.101000	0.10973	-0.192000	0.10432	0.655000	0.94253	CCC		0.587	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		7	115	0	0	0	1	0	7	115				
RP1L1	94137	broad.mit.edu	37	8	10464515	10464515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:10464515C>T	ENST00000382483.3	-	4	7316	c.7093G>A	c.(7093-7095)Ggg>Agg	p.G2365R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2445			G -> R.		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)				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)		TCACTGGCCCCCTGCTCTGGA	0.587																																						ENST00000382483.3																			0				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						c.(7093-7095)Ggg>Agg		retinitis pigmentosa 1-like 1							89.0	95.0	93.0					8																	10464515		1902	4117	6019	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464515C>T	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.7093G>A	8.37:g.10464515C>T	ENSP00000371923:p.Gly2365Arg						p.G2365R	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	7316	-			2365					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.7093G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	4.872	0.162067	0.09287	.	.	ENSG00000183638	ENST00000382483	T	0.04454	3.62	4.41	1.6	0.23607	.	0.250837	0.20948	U	0.082809	T	0.02418	0.0074	N	0.14661	0.345	0.09310	N	1	P	0.38827	0.649	B	0.33846	0.171	T	0.48833	-0.9000	10	0.25751	T	0.34	-10.9849	6.7744	0.23611	0.0:0.5424:0.2918:0.1658	.	2365	A6NKC6	.	R	2365	ENSP00000371923:G2365R	ENSP00000371923:G2365R	G	-	1	0	RP1L1	10501925	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.250000	0.18235	0.232000	0.21100	-1.101000	0.02118	GGG		0.587	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			36	65	0	0	0	1	0	36	65				
IL22RA1	58985	broad.mit.edu	37	1	24448066	24448066	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:24448066C>T	ENST00000270800.1	-	7	992	c.954G>A	c.(952-954)cgG>cgA	p.R318R		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	318					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACAGGCTATGCCGCTGTGGAG	0.627																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(952-954)cgG>cgA		interleukin 22 receptor, alpha 1							85.0	82.0	83.0					1																	24448066		2203	4300	6503	SO:0001819	synonymous_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24448066C>T	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.954G>A	1.37:g.24448066C>T							p.R318R	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	7	992	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	318					A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	c.954G>A	CCDS247.1																																																																																				0.627	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			21	18	0	0	0	1	0	21	18				
GPAT2	150763	broad.mit.edu	37	2	96697883	96697883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96697883C>T	ENST00000434632.1	-	4	534	c.75G>A	c.(73-75)tgG>tgA	p.W25*	GPAT2_ENST00000488515.1_5'Flank|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.W25*|GPAT2_ENST00000377137.3_Nonsense_Mutation_p.W25*|GPAT2_ENST00000359548.4_Nonsense_Mutation_p.W25*			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	25					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AGCCTGACGACCACAGGCTAG	0.572																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(73-75)tgG>tgA		glycerol-3-phosphate acyltransferase 2, mitochondrial							27.0	36.0	33.0					2																	96697883		1760	3935	5695	SO:0001587	stop_gained	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96697883C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.75G>A	2.37:g.96697883C>T	ENSP00000389395:p.Trp25*					GPAT2_ENST00000377137.3_Nonsense_Mutation_p.W25*|GPAT2_ENST00000359548.4_Nonsense_Mutation_p.W25*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.W25*	p.W25*			Q6NUI2	GPAT2_HUMAN			4	534	-			25					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Nonsense_Mutation	SNP	ENST00000434632.1	37	c.75G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201194	0.38905	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137;ENST00000439254	.	.	.	4.32	3.44	0.39384	.	0.511935	0.19057	N	0.123868	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1054	8.1176	0.30953	0.0:0.8893:0.0:0.1107	.	.	.	.	X	25	.	ENSP00000352547:W25X	W	-	3	0	GPAT2	96061610	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	1.678000	0.37586	1.187000	0.43000	0.546000	0.68486	TGG		0.572	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		8	9	0	0	0	1	0	8	9				
KCTD16	57528	broad.mit.edu	37	5	143853384	143853384	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:143853384C>T	ENST00000507359.3	+	3	2085	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	KCTD16_ENST00000512467.1_Missense_Mutation_p.P332S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	332					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATCTGTGGTCCCGTGACACG	0.587																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(994-996)Ccc>Tcc		potassium channel tetramerization domain containing 16							88.0	82.0	84.0					5																	143853384		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853384C>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.994C>T	5.37:g.143853384C>T	ENSP00000426548:p.Pro332Ser					KCTD16_ENST00000512467.1_Missense_Mutation_p.P332S	p.P332S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2085	+		all_hematologic(541;0.118)	332					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.994C>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240832	0.79912	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.44083	0.93;0.93	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	N	0.02539	-0.55	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.60949	-0.7161	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	332	Q68DU8	KCD16_HUMAN	S	332	ENSP00000424151:P332S;ENSP00000426548:P332S	ENSP00000426548:P332S	P	+	1	0	KCTD16	143833577	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.400000	0.79949	2.941000	0.99782	0.655000	0.94253	CCC		0.587	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		24	36	0	0	0	1	0	24	36				
EEF1DP3	196549	broad.mit.edu	37	13	32527192	32527192	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:32527192G>A	ENST00000428783.1	+	0	892							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										ATGAGGAGCGGCTGCAGCAGT	0.587																																						ENST00000428783.1																			0																																																			0							g.chr13:32527192G>A			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527192G>A														0	892	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.587	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		12	22	0	0	0	1	0	12	22				
TNFRSF21	27242	broad.mit.edu	37	6	47251900	47251900	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:47251900G>A	ENST00000296861.2	-	3	1410	c.1017C>T	c.(1015-1017)aaC>aaT	p.N339N		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	339					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GCTTGTGTAGGTTCTGTCTAG	0.537																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1015-1017)aaC>aaT		tumor necrosis factor receptor superfamily, member 21							186.0	176.0	179.0					6																	47251900		2203	4300	6503	SO:0001819	synonymous_variant	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47251900G>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1017C>T	6.37:g.47251900G>A							p.N339N	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		3	1410	-			339					B2RDI9|Q0D2P5|Q96D86	Silent	SNP	ENST00000296861.2	37	c.1017C>T	CCDS4921.1																																																																																				0.537	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		44	93	0	0	0	1	0	44	93				
CDH23	64072	broad.mit.edu	37	10	73544806	73544806	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:73544806C>T	ENST00000224721.6	+	42	5681	c.5676C>T	c.(5674-5676)acC>acT	p.T1892T		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1887	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACGCCTCACCTTCAACATCA	0.587																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5674-5676)acC>acT		cadherin-related 23							78.0	82.0	80.0					10																	73544806		2168	4266	6434	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544806C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5676C>T	10.37:g.73544806C>T							p.T1892T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			42	5681	+			1887			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5676C>T																																																																																					0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		21	45	0	0	0	1	0	21	45				
SMC1A	8243	broad.mit.edu	37	X	53441760	53441760	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:53441760C>T	ENST00000322213.4	-	3	485	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SMC1A_ENST00000375340.6_Missense_Mutation_p.E120K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	120					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTCTCTAATTCCTCACTGTAC	0.443																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(358-360)Gaa>Aaa		structural maintenance of chromosomes 1A							168.0	116.0	134.0					X																	53441760		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53441760C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.358G>A	X.37:g.53441760C>T	ENSP00000323421:p.Glu120Lys					SMC1A_ENST00000463684.1_Intron|SMC1A_ENST00000375340.6_Missense_Mutation_p.E120K	p.E120K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			3	485	-			120					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.358G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637320	0.47049	.	.	ENSG00000072501	ENST00000322213;ENST00000375340;ENST00000340213	D;T	0.90788	-2.73;-0.26	4.7	4.7	0.59300	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	L	0.33668	1.02	0.31791	N	0.629703	P;B;B	0.37370	0.592;0.196;0.003	P;B;B	0.47528	0.549;0.132;0.048	D	0.90079	0.4169	10	0.37606	T	0.19	.	15.8887	0.79273	0.0:1.0:0.0:0.0	.	120;98;120	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	K	120	ENSP00000323421:E120K;ENSP00000364489:E120K	ENSP00000323421:E120K	E	-	1	0	SMC1A	53458485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.562000	0.67346	2.084000	0.62774	0.544000	0.68410	GAA		0.443	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		26	59	0	0	0	1	0	26	59				
SH3BP1	23616	broad.mit.edu	37	22	38041371	38041371	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:38041371G>A	ENST00000357436.4	+	10	1091		c.e10-1		SH3BP1_ENST00000442465.2_Splice_Site|SH3BP1_ENST00000336738.5_Splice_Site|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_Splice_Site|SH3BP1_ENST00000599616.1_Splice_Site	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1						signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CATCCCTGCAGACCACTCCCC	0.647																																						ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.e8-1		SH3-domain binding protein 1							93.0	86.0	88.0					22																	38041371		2203	4300	6503	SO:0001630	splice_region_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38041371G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.779-1G>A	22.37:g.38041371G>A						SH3BP1_ENST00000442465.2_Splice_Site|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_Splice_Site|SH3BP1_ENST00000357436.4_Splice_Site|SH3BP1_ENST00000336738.5_Splice_Site				Q9Y3L3	3BP1_HUMAN			8	586	+	Melanoma(58;0.0574)							Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Splice_Site	SNP	ENST00000357436.4	37		CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670046	0.29693	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0066	0.92854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SH3BP1	36371317	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	2.566000	0.45948	2.576000	0.86940	0.561000	0.74099	.		0.647	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957	Intron	9	78	0	0	0	1	0	9	78				
FN1	2335	broad.mit.edu	37	2	216239998	216239998	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216239998C>T	ENST00000359671.1	-	37	6088	c.5823G>A	c.(5821-5823)ggG>ggA	p.G1941G	FN1_ENST00000346544.3_Silent_p.G1941G|FN1_ENST00000443816.1_Silent_p.G1851G|FN1_ENST00000357867.4_Silent_p.G1851G|FN1_ENST00000446046.1_Silent_p.G1941G|FN1_ENST00000421182.1_Silent_p.G1851G|FN1_ENST00000345488.5_Silent_p.G1941G|FN1_ENST00000432072.2_Silent_p.G1942G|FN1_ENST00000354785.4_Silent_p.G2032G|FN1_ENST00000323926.6_Silent_p.G2032G|FN1_ENST00000356005.4_Silent_p.G1851G|FN1_ENST00000336916.4_Silent_p.G1941G|FN1_ENST00000357009.2_Silent_p.G1941G			P02751	FINC_HUMAN	fibronectin 1	1941	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGGGAGGAGACCCAGGCTTCT	0.547																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6094-6096)ggG>ggA		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						83.0	86.0	85.0					2																	216239998		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216239998C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5823G>A	2.37:g.216239998C>T						FN1_ENST00000356005.4_Silent_p.G1851G|FN1_ENST00000359671.1_Silent_p.G1941G|FN1_ENST00000432072.2_Silent_p.G1942G|FN1_ENST00000323926.6_Silent_p.G2032G|FN1_ENST00000357867.4_Silent_p.G1851G|FN1_ENST00000345488.5_Silent_p.G1941G|FN1_ENST00000443816.1_Silent_p.G1851G|FN1_ENST00000336916.4_Silent_p.G1941G|FN1_ENST00000421182.1_Silent_p.G1851G|FN1_ENST00000446046.1_Silent_p.G1941G|FN1_ENST00000357009.2_Silent_p.G1941G|FN1_ENST00000346544.3_Silent_p.G1941G	p.G2032G			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	38	6465	-		Renal(323;0.127)	1941			Connecting strand 3 (CS-3) (V region).		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.6096G>A																																																																																					0.547	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		17	32	0	0	0	1	0	17	32				
ELOVL2	54898	broad.mit.edu	37	6	11005727	11005727	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:11005727A>G	ENST00000354666.3	-	3	216	c.133T>C	c.(133-135)Tat>Cat	p.Y45H		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	45					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GAGAGCAGATACATGACAGTA	0.423																																						ENST00000354666.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(133-135)Tat>Cat		ELOVL fatty acid elongase 2							113.0	95.0	101.0					6																	11005727		2203	4300	6503	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:11005727A>G	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.133T>C	6.37:g.11005727A>G	ENSP00000346693:p.Tyr45His						p.Y45H	NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		3	216	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	45					Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.133T>C	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583183	0.86748	.	.	ENSG00000197977	ENST00000354666	T	0.67345	-0.26	5.95	5.95	0.96441	.	0.154973	0.44285	D	0.000463	D	0.89111	0.6622	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93827	0.7124	10	0.87932	D	0	-2.5744	16.4237	0.83790	1.0:0.0:0.0:0.0	.	45	Q9NXB9	ELOV2_HUMAN	H	45	ENSP00000346693:Y45H	ENSP00000346693:Y45H	Y	-	1	0	ELOVL2	11113713	1.000000	0.71417	0.531000	0.27976	0.993000	0.82548	7.833000	0.86765	2.279000	0.76181	0.533000	0.62120	TAT		0.423	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			5	43	0	0	0	1	0	5	43				
RNF123	63891	broad.mit.edu	37	3	49758663	49758663	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49758663C>T	ENST00000327697.6	+	39	4014	c.3870C>T	c.(3868-3870)ttC>ttT	p.F1290F	GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000433785.1_Silent_p.F402F|AMIGO3_ENST00000535833.1_5'UTR|AMIGO3_ENST00000320431.7_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1290					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACTGCTTCTTCTGCAAAACCA	0.552																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3868-3870)ttC>ttT		ring finger protein 123							284.0	275.0	278.0					3																	49758663		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49758663C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3870C>T	3.37:g.49758663C>T						RNF123_ENST00000433785.1_Silent_p.F402F|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR	p.F1290F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	39	4014	+			1290					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.3870C>T	CCDS33758.1																																																																																				0.552	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		14	296	0	0	0	1	0	14	296				
SLC7A5	8140	broad.mit.edu	37	16	87874722	87874722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:87874722C>T	ENST00000261622.4	-	3	769	c.704G>A	c.(703-705)gGc>gAc	p.G235D	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	235					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CAGTTTGGTGCCTTCAAATGA	0.512																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(703-705)gGc>gAc		solute carrier family 7 (amino acid transporter light chain, L system), member 5							195.0	173.0	180.0					16																	87874722		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87874722C>T	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.704G>A	16.37:g.87874722C>T	ENSP00000261622:p.Gly235Asp					SLC7A5_ENST00000565644.1_5'UTR	p.G235D	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	3	769	-			235					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.704G>A	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974593	0.53720	.	.	ENSG00000103257	ENST00000261622	D	0.92397	-3.03	4.87	4.87	0.63330	Amino acid permease domain (1);	0.109191	0.64402	D	0.000008	D	0.92024	0.7473	M	0.70903	2.155	0.80722	D	1	P	0.35628	0.513	B	0.41466	0.358	D	0.92139	0.5719	10	0.56958	D	0.05	.	12.5396	0.56161	0.0:0.9163:0.0:0.0837	.	235	Q01650	LAT1_HUMAN	D	235	ENSP00000261622:G235D	ENSP00000261622:G235D	G	-	2	0	SLC7A5	86432223	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	4.759000	0.62227	2.250000	0.74265	0.462000	0.41574	GGC		0.512	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		7	52	0	0	0	1	0	7	52				
ARHGEF16	27237	broad.mit.edu	37	1	3396411	3396411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:3396411G>A	ENST00000378378.4	+	14	2329	c.1924G>A	c.(1924-1926)Gcg>Acg	p.A642T	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A354T|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A346T|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A354T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	642	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGCCTTCTTCGCGAAGCAAGC	0.647																																						ENST00000378378.4																			0				lung(6)|ovary(1)	7						c.(1924-1926)Gcg>Acg		Rho guanine nucleotide exchange factor (GEF) 16							124.0	111.0	116.0					1																	3396411		2203	4300	6503	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3396411G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1924G>A	1.37:g.3396411G>A	ENSP00000367629:p.Ala642Thr					ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A354T|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A346T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A354T	p.A642T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	14	2329	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	642			SH3.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1924G>A	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064566	0.55432	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	4.86	2.92	0.33932	Src homology-3 domain (4);	0.060663	0.64402	D	0.000003	T	0.67748	0.2926	M	0.88979	2.995	0.50313	D	0.999869	D;D	0.71674	0.994;0.998	P;D	0.65684	0.903;0.937	T	0.71182	-0.4668	10	0.72032	D	0.01	-27.7988	8.8216	0.35030	0.0791:0.0:0.7702:0.1507	.	346;642	B4DJM7;Q5VV41	.;ARHGG_HUMAN	T	642;354;354;346	ENSP00000367629:A642T;ENSP00000367624:A354T;ENSP00000367622:A354T;ENSP00000408887:A346T	ENSP00000367622:A354T	A	+	1	0	ARHGEF16	3386271	0.986000	0.35501	0.995000	0.50966	0.231000	0.25187	2.111000	0.41883	1.004000	0.39156	0.491000	0.48974	GCG		0.647	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		12	41	0	0	0	1	0	12	41				
MYF5	4617	broad.mit.edu	37	12	81111284	81111284	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:81111284C>T	ENST00000228644.3	+	1	594	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	148					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)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTACTATAGCCTGCCGGGACA	0.567																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(442-444)Ctg>Ttg		myogenic factor 5							119.0	127.0	124.0					12																	81111284		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111284C>T		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.442C>T	12.37:g.81111284C>T							p.L148L	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	594	+			148					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.442C>T	CCDS9020.1																																																																																				0.567	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		7	144	0	0	0	1	0	7	144				
HDAC11	79885	broad.mit.edu	37	3	13545607	13545607	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:13545607G>A	ENST00000295757.3	+	9	846	c.663G>A	c.(661-663)cgG>cgA	p.R221R	HDAC11_ENST00000522202.1_Silent_p.R170R|HDAC11_ENST00000404040.1_Silent_p.R121R|HDAC11_ENST00000402259.1_Silent_p.R55R|HDAC11_ENST00000437379.2_Silent_p.R193R|HDAC11_ENST00000405025.1_Missense_Mutation_p.G61E|HDAC11_ENST00000446613.2_Silent_p.R29R|HDAC11_ENST00000402271.1_Silent_p.R142R|HDAC11_ENST00000433119.1_Missense_Mutation_p.G179E|HDAC11_ENST00000404548.1_Missense_Mutation_p.G89E	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	221	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|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)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CCATCAGGCGGAAGGTGGAGC	0.552																																						ENST00000433119.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.(535-537)gGa>gAa		histone deacetylase 11							74.0	69.0	71.0					3																	13545607		2203	4300	6503	SO:0001819	synonymous_variant	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13545607G>A	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.663G>A	3.37:g.13545607G>A						HDAC11_ENST00000402271.1_Silent_p.R142R|HDAC11_ENST00000522202.1_Silent_p.R170R|HDAC11_ENST00000295757.3_Silent_p.R221R|HDAC11_ENST00000446613.2_Silent_p.R29R|HDAC11_ENST00000405025.1_Missense_Mutation_p.G61E|HDAC11_ENST00000404548.1_Missense_Mutation_p.G89E|HDAC11_ENST00000402259.1_Silent_p.R55R|HDAC11_ENST00000437379.2_Silent_p.R193R|HDAC11_ENST00000404040.1_Silent_p.R121R	p.G179E			Q96DB2	HDA11_HUMAN			8	1011	+			0			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.536G>A	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422737	0.43020	.	.	ENSG00000163517	ENST00000433119;ENST00000404548;ENST00000405025	.	.	.	5.65	2.84	0.33178	.	.	.	.	.	T	0.46927	0.1418	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.38156	-0.9674	7	0.87932	D	0	0.0876	8.1129	0.30924	0.0845:0.324:0.5915:0.0	.	179	Q658J9	.	E	179;89;61	.	ENSP00000385528:G89E	G	+	2	0	HDAC11	13520607	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.591000	0.36665	0.300000	0.22699	0.561000	0.74099	GGA		0.552	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		10	31	0	0	0	1	0	10	31				
XIRP1	165904	broad.mit.edu	37	3	39230331	39230331	+	Silent	SNP	G	G	A	rs370999835		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:39230331G>A	ENST00000340369.3	-	2	834	c.606C>T	c.(604-606)cgC>cgT	p.R202R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R202R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	202					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGAGCCCAGGCGGTCCAGCG	0.627																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(604-606)cgC>cgT		xin actin-binding repeat containing 1							44.0	47.0	46.0					3																	39230331		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39230331G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.606C>T	3.37:g.39230331G>A						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R202R	p.R202R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	834	-			202					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.606C>T	CCDS2683.1																																																																																				0.627	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		6	82	0	0	0	1	0	6	82				
TECTA	7007	broad.mit.edu	37	11	121016682	121016682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:121016682C>T	ENST00000392793.1	+	12	4233	c.3962C>T	c.(3961-3963)aCc>aTc	p.T1321I	TECTA_ENST00000264037.2_Missense_Mutation_p.T1321I|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1321					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTTAACCCCACCTTCTTCTAT	0.562																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(3961-3963)aCc>aTc		tectorin alpha							114.0	106.0	108.0					11																	121016682		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121016682C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3962C>T	11.37:g.121016682C>T	ENSP00000376543:p.Thr1321Ile					TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.T1321I	p.T1321I			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	12	4233	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1321						Missense_Mutation	SNP	ENST00000392793.1	37	c.3962C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764698	0.49574	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.77489	-1.1;-1.1	5.87	3.93	0.45458	Uncharacterised domain, cysteine-rich (2);	0.615387	0.17947	N	0.156643	T	0.72542	0.3473	L	0.43598	1.365	0.19300	N	0.999979	B	0.25048	0.117	B	0.34991	0.193	T	0.63924	-0.6527	10	0.45353	T	0.12	.	11.0326	0.47783	0.1076:0.6599:0.2325:0.0	.	1321	O75443	TECTA_HUMAN	I	1321	ENSP00000376543:T1321I;ENSP00000264037:T1321I	ENSP00000264037:T1321I	T	+	2	0	TECTA	120521892	0.257000	0.24022	0.994000	0.49952	0.972000	0.66771	2.365000	0.44196	2.779000	0.95612	0.591000	0.81541	ACC		0.562	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		15	124	0	0	0	1	0	15	124				
RICTOR	253260	broad.mit.edu	37	5	38942988	38942988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:38942988G>A	ENST00000357387.3	-	37	5029	c.4999C>T	c.(4999-5001)Ctt>Ttt	p.L1667F	RICTOR_ENST00000296782.5_Missense_Mutation_p.L1691F	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CGACACGGAAGTCTGAATGTG	0.333																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4999-5001)Ctt>Ttt		RPTOR independent companion of MTOR, complex 2							98.0	101.0	100.0					5																	38942988		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38942988G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4999C>T	5.37:g.38942988G>A	ENSP00000349959:p.Leu1667Phe					RICTOR_ENST00000296782.5_Missense_Mutation_p.L1691F	p.L1667F	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			37	5029	-	all_lung(31;0.000396)		1667						Missense_Mutation	SNP	ENST00000357387.3	37	c.4999C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583903	0.86748	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.57273	0.41;0.41	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.70033	-0.4983	10	0.87932	D	0	-14.1367	14.6418	0.68732	0.0691:0.0:0.9309:0.0	.	1667;1691	Q6R327;Q6R327-3	RICTR_HUMAN;.	F	1667;1691	ENSP00000349959:L1667F;ENSP00000296782:L1691F	ENSP00000296782:L1691F	L	-	1	0	RICTOR	38978745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.784000	0.55416	2.850000	0.98022	0.655000	0.94253	CTT		0.333	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		4	33	0	0	0	1	0	4	33				
HNRNPLL	92906	broad.mit.edu	37	2	38800549	38800549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:38800549G>A	ENST00000449105.3	-	8	1234	c.895C>T	c.(895-897)Cct>Tct	p.P299S	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.P265S|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.P294S|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.P299S|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.P265S			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	299					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CTTGGTAAAGGCAATAATGGA	0.358																																						ENST00000449105.2																			0											c.(895-897)Cct>Tct		heterogeneous nuclear ribonucleoprotein L-like							94.0	92.0	93.0					2																	38800549		2203	4300	6503	SO:0001583	missense	92906							g.chr2:38800549G>A	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.895C>T	2.37:g.38800549G>A	ENSP00000390625:p.Pro299Ser					HNRNPLL_ENST00000409328.1_Missense_Mutation_p.P265S|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.P265S|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.P294S	p.P299S	NM_138394.3	NP_612403.2					8	1234	-								Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37	c.895C>T		.	.	.	.	.	.	.	.	.	.	G	15.46	2.840584	0.51057	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328	.	.	.	5.18	5.18	0.71444	.	0.130891	0.51477	D	0.000092	T	0.53029	0.1771	L	0.54323	1.7	0.80722	D	1	P;P	0.39809	0.689;0.689	B;B	0.33254	0.16;0.16	T	0.57318	-0.7832	9	0.41790	T	0.15	-8.6213	19.049	0.93034	0.0:0.0:1.0:0.0	.	294;299	C9J9G0;D6W592	.;.	S	299;294;265;265	.	ENSP00000368195:P265S	P	-	1	0	HNRPLL	38654053	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.085000	0.76875	2.573000	0.86826	0.591000	0.81541	CCT		0.358	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		24	52	0	0	0	1	0	24	52				
RPN2	6185	broad.mit.edu	37	20	35826868	35826868	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:35826868G>A	ENST00000237530.6	+	3	587	c.276G>A	c.(274-276)caG>caA	p.Q92Q	RPN2_ENST00000373622.5_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	92					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACGCTGCCCAGGCCAGCCAGG	0.473																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(274-276)caG>caA		ribophorin II							116.0	103.0	108.0					20																	35826868		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35826868G>A	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.276G>A	20.37:g.35826868G>A						RPN2_ENST00000373622.5_Intron	p.Q92Q	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			3	587	+		Myeloproliferative disorder(115;0.00878)	92					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.276G>A	CCDS13291.1																																																																																				0.473	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		6	55	0	0	0	1	0	6	55				
PRPF39	55015	broad.mit.edu	37	14	45583390	45583390	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45583390C>T	ENST00000355765.6	+	12	1932	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	588					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TTTCAGGCTTCTGAATGCTTA	0.308																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(1762-1764)Ctg>Ttg		pre-mRNA processing factor 39							40.0	41.0	40.0					14																	45583390		2201	4298	6499	SO:0001819	synonymous_variant	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45583390C>T	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1762C>T	14.37:g.45583390C>T							p.L588L	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			12	1932	+			588					Q08AL1|Q08AL2|Q9NUU5	Silent	SNP	ENST00000355765.6	37	c.1762C>T	CCDS9682.2																																																																																				0.308	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			6	33	0	0	0	1	0	6	33				
KIF1A	547	broad.mit.edu	37	2	241710459	241710459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:241710459C>T	ENST00000320389.7	-	14	1401	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A424T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	415					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACACGGAGGCCGCGCGGCTG	0.647																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1270-1272)Gcc>Acc		kinesin family member 1A							45.0	58.0	54.0					2																	241710459		2110	4256	6366	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241710459C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1243G>A	2.37:g.241710459C>T	ENSP00000322791:p.Ala415Thr					KIF1A_ENST00000320389.7_Missense_Mutation_p.A415T	p.A424T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	15	1516	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	415					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1270G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.821	0.937476	0.18206	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.72942	-0.58;-0.61;-0.7	4.11	4.11	0.48088	.	0.126644	0.52532	U	0.000077	T	0.65417	0.2689	M	0.65975	2.015	0.52501	D	0.999957	B;P;B	0.43788	0.002;0.817;0.418	B;B;B	0.38562	0.008;0.276;0.202	T	0.66452	-0.5920	10	0.08837	T	0.75	.	16.3652	0.83317	0.0:1.0:0.0:0.0	.	424;424;415	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	415;424;424;424	ENSP00000322791:A415T;ENSP00000438388:A424T;ENSP00000384231:A424T	ENSP00000322791:A415T	A	-	1	0	KIF1A	241359132	1.000000	0.71417	0.828000	0.32881	0.063000	0.16089	7.589000	0.82641	1.848000	0.53677	0.555000	0.69702	GCC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		29	35	0	0	0	1	0	29	35				
UBTF	7343	broad.mit.edu	37	17	42286719	42286719	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:42286719C>T	ENST00000302904.4	-	17	2398		c.e17+1		UBTF_ENST00000533177.1_Splice_Site|UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000529383.1_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000526094.1_Splice_Site			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|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)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGCCCTCTCACCTTAACCCAG	0.577																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e17+1		upstream binding transcription factor, RNA polymerase I							96.0	77.0	84.0					17																	42286719		2203	4300	6503	SO:0001630	splice_region_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42286719C>T	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1905+1G>A	17.37:g.42286719C>T						UBTF_ENST00000436088.1_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Splice_Site|UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|UBTF_ENST00000529383.1_Splice_Site				P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	17	2398	-		Breast(137;0.00765)|Prostate(33;0.0181)						A8K6R8	Splice_Site	SNP	ENST00000302904.4	37		CCDS11480.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181834	0.78677	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8727	0.92322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBTF	39642245	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.454000	0.80714	2.550000	0.86006	0.462000	0.41574	.		0.577	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	Intron	13	46	0	0	0	1	0	13	46				
LRRC66	339977	broad.mit.edu	37	4	52861570	52861570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:52861570C>T	ENST00000343457.3	-	4	1624	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	540						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCCACAGTTTCATAAGTCCAT	0.512																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1618-1620)Gaa>Aaa		leucine rich repeat containing 66							101.0	111.0	108.0					4																	52861570		2134	4259	6393	SO:0001583	missense	339977					integral to membrane		g.chr4:52861570C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1618G>A	4.37:g.52861570C>T	ENSP00000341944:p.Glu540Lys						p.E540K	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1624	-			540						Missense_Mutation	SNP	ENST00000343457.3	37	c.1618G>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922343	0.33908	.	.	ENSG00000188993	ENST00000343457	D	0.82893	-1.66	3.9	2.14	0.27477	.	0.807228	0.10772	N	0.635879	T	0.67739	0.2925	N	0.19112	0.55	0.09310	N	1	B	0.22800	0.075	B	0.14023	0.01	T	0.57808	-0.7747	10	0.54805	T	0.06	-1.9773	3.71	0.08416	0.0:0.5618:0.2083:0.2298	.	540	Q68CR7	LRC66_HUMAN	K	540	ENSP00000341944:E540K	ENSP00000341944:E540K	E	-	1	0	LRRC66	52556327	0.009000	0.17119	0.005000	0.12908	0.003000	0.03518	0.863000	0.27913	0.991000	0.38814	-0.373000	0.07131	GAA		0.512	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		32	109	0	0	0	1	0	32	109				
FAM102B	284611	broad.mit.edu	37	1	109103131	109103131	+	Silent	SNP	C	C	T	rs565032126		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:109103131C>T	ENST00000370035.3	+	1	421	c.81C>T	c.(79-81)gtC>gtT	p.V27V	FAM102B_ENST00000405454.1_Silent_p.V27V	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	27										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCAATGGGGTCCTCTTCTGCA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		14005	0.0		0.0	False		,,,				2504	0.001					ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(79-81)gtC>gtT		family with sequence similarity 102, member B							53.0	56.0	55.0					1																	109103131		2203	4300	6503	SO:0001819	synonymous_variant	284611							g.chr1:109103131C>T	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.81C>T	1.37:g.109103131C>T						FAM102B_ENST00000405454.1_Silent_p.V27V	p.V27V	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	1	421	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	27					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Silent	SNP	ENST00000370035.3	37	c.81C>T	CCDS30786.2																																																																																				0.607	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		4	45	0	0	0	1	0	4	45				
ARHGEF2	9181	broad.mit.edu	37	1	155927545	155927545	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155927545G>A	ENST00000361247.4	-	13	1773	c.1674C>T	c.(1672-1674)gaC>gaT	p.D558D	ARHGEF2_ENST00000313667.4_Silent_p.D557D|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Silent_p.D559D|ARHGEF2_ENST00000368316.1_Silent_p.D530D|ARHGEF2_ENST00000313695.7_Silent_p.D530D|ARHGEF2_ENST00000462460.2_Silent_p.D603D	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	558	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGTGCTCCGGTCATCCCGGG	0.567																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1588-1590)gaC>gaT		Rho/Rac guanine nucleotide exchange factor (GEF) 2							108.0	76.0	87.0					1																	155927545		2203	4300	6503	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155927545G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1674C>T	1.37:g.155927545G>A						ARHGEF2_ENST00000313667.4_Silent_p.D557D|ARHGEF2_ENST00000313695.7_Silent_p.D530D|ARHGEF2_ENST00000368315.3_Silent_p.D559D|ARHGEF2_ENST00000361247.4_Silent_p.D558D	p.D530D			Q92974	ARHG2_HUMAN			17	2060	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		558			PH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.1590C>T	CCDS53376.1																																																																																				0.567	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		4	53	0	0	0	1	0	4	53				
MTSS1L	92154	broad.mit.edu	37	16	70719656	70719656	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:70719656C>T	ENST00000338779.6	-	1	313	c.39G>A	c.(37-39)ggG>ggA	p.G13G	VAC14_ENST00000571759.1_5'Flank	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	13	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCTGGAAGAGCCCGCCCAGGG	0.781																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(37-39)ggG>ggA		metastasis suppressor 1-like							6.0	7.0	7.0					16																	70719656		2019	3996	6015	SO:0001819	synonymous_variant	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70719656C>T		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.39G>A	16.37:g.70719656C>T							p.G13G	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			1	313	-			13			IMD.		A6NJI7|Q9BUA8	Silent	SNP	ENST00000338779.6	37	c.39G>A	CCDS32476.1																																																																																				0.781	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		4	1	0	0	0	1	0	4	1				
ITGA5	3678	broad.mit.edu	37	12	54795397	54795397	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54795397C>T	ENST00000293379.4	-	23	2620	c.2359G>A	c.(2359-2361)Gag>Aag	p.E787K	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	787					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GCCTGAGCCTCCACGGAGAGC	0.562																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(2359-2361)Gag>Aag		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							150.0	133.0	139.0					12																	54795397		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795397C>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2359G>A	12.37:g.54795397C>T	ENSP00000293379:p.Glu787Lys					RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.E787K	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			23	2620	-			787					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.2359G>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361731	0.82353	.	.	ENSG00000161638	ENST00000293379	T	0.39787	1.06	4.91	4.91	0.64330	Integrin alpha-2 (1);	0.182290	0.45606	D	0.000344	T	0.45895	0.1365	L	0.35723	1.085	0.43000	D	0.994511	D	0.59357	0.985	P	0.58013	0.831	T	0.18366	-1.0339	10	0.13853	T	0.58	.	13.9606	0.64177	0.0:1.0:0.0:0.0	.	787	P08648	ITA5_HUMAN	K	787	ENSP00000293379:E787K	ENSP00000293379:E787K	E	-	1	0	ITGA5	53081664	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	1.467000	0.35321	2.422000	0.82143	0.557000	0.71058	GAG		0.562	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			5	97	0	0	0	1	0	5	97				
KAT6A	7994	broad.mit.edu	37	8	41791865	41791865	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:41791865C>T	ENST00000396930.3	-	18	4416	c.3873G>A	c.(3871-3873)caG>caA	p.Q1291Q	KAT6A_ENST00000265713.2_Silent_p.Q1291Q|KAT6A_ENST00000406337.1_Silent_p.Q1291Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1291	Glu-rich.				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)										cctctaattcctgctgctcct	0.577																																						ENST00000396930.3																			0											c.(3871-3873)caG>caA		K(lysine) acetyltransferase 6A							117.0	98.0	105.0					8																	41791865		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791865C>T	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.3873G>A	8.37:g.41791865C>T						KAT6A_ENST00000265713.2_Silent_p.Q1291Q|KAT6A_ENST00000406337.1_Silent_p.Q1291Q	p.Q1291Q	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	4416	-			1291			Glu-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.3873G>A	CCDS6124.1																																																																																				0.577	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		27	42	0	0	0	1	0	27	42				
THSD4	79875	broad.mit.edu	37	15	72039237	72039237	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:72039237C>T	ENST00000355327.3	+	13	2231	c.2097C>T	c.(2095-2097)cgC>cgT	p.R699R	THSD4_ENST00000261862.6_Silent_p.R699R|THSD4_ENST00000357769.4_Silent_p.R339R|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	699	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			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						TGCAGCACCGCCAGGTTCTGT	0.622																																						ENST00000355327.3																			0				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						c.(2095-2097)cgC>cgT		thrombospondin, type I, domain containing 4							50.0	58.0	55.0					15																	72039237		2190	4295	6485	SO:0001819	synonymous_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039237C>T	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.2097C>T	15.37:g.72039237C>T						THSD4_ENST00000357769.4_Silent_p.R339R|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.R699R	p.R699R			Q6ZMP0	THSD4_HUMAN			13	2231	+			699			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	c.2097C>T	CCDS10238.2																																																																																				0.622	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		9	42	0	0	0	1	0	9	42				
DCC	1630	broad.mit.edu	37	18	50923747	50923747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:50923747G>A	ENST00000442544.2	+	18	3374	c.2758G>A	c.(2758-2760)Gtc>Atc	p.V920I	DCC_ENST00000412726.1_Missense_Mutation_p.V748I|DCC_ENST00000581580.1_Missense_Mutation_p.V555I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	920	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAATTCTCGGTCATGGTAAC	0.413																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2758-2760)Gtc>Atc		deleted in colorectal carcinoma							122.0	106.0	111.0					18																	50923747		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50923747G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2758G>A	18.37:g.50923747G>A	ENSP00000389140:p.Val920Ile					DCC_ENST00000581580.1_Missense_Mutation_p.V555I|DCC_ENST00000412726.1_Missense_Mutation_p.V748I	p.V920I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	18	3374	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	920			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2758G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240632	0.58995	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.70749	-0.51;-0.51	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.85217	0.5646	M	0.83483	2.645	0.58432	D	0.99999	D;D;D	0.63880	0.986;0.986;0.993	D;D;P	0.66497	0.944;0.944;0.875	D	0.86191	0.1612	10	0.62326	D	0.03	.	18.8301	0.92135	0.0:0.0:1.0:0.0	.	748;748;920	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	I	920;748	ENSP00000389140:V920I;ENSP00000397322:V748I	ENSP00000397322:V748I	V	+	1	0	DCC	49177745	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	9.741000	0.98843	2.741000	0.93983	0.650000	0.86243	GTC		0.413	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		4	22	0	0	0	1	0	4	22				
OR4F5	79501	broad.mit.edu	37	1	69598	69598	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:69598T>G	ENST00000335137.3	+	1	508	c.508T>G	c.(508-510)Ttt>Gtt	p.F170V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(1)|ovary(1)	2	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTCGATAGTTTTTATTGTGA	0.463																																						ENST00000335137.3																			0				lung(1)|ovary(1)	2						c.(508-510)Ttt>Gtt		olfactory receptor, family 4, subfamily F, member 5							124.0	88.0	101.0					1																	69598		1770	3080	4850	SO:0001583	missense	79501				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:69598T>G	AB065592	CCDS30547.1	1p36.33	2012-08-09			ENSG00000186092	ENSG00000186092		"""GPCR / Class A : Olfactory receptors"""	14825	protein-coding gene	gene with protein product							Standard	NM_001005484		Approved		uc001aal.1	Q8NH21	OTTHUMG00000001094	ENST00000335137.3:c.508T>G	1.37:g.69598T>G	ENSP00000334393:p.Phe170Val						p.F170V	NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	508	+	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)	170					Q5VT22	Missense_Mutation	SNP	ENST00000335137.3	37	c.508T>G	CCDS30547.1	.	.	.	.	.	.	.	.	.	.	.	8.517	0.867872	0.17250	.	.	ENSG00000186092	ENST00000534990;ENST00000335137	T	0.00350	7.98	2.31	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000300	T	0.00967	0.0032	H	0.94183	3.505	0.09310	N	1	D	0.62365	0.991	D	0.74023	0.982	T	0.19418	-1.0306	10	0.72032	D	0.01	.	8.5094	0.33208	0.0:0.0:0.0:1.0	.	170	Q8NH21	OR4F5_HUMAN	V	218;170	ENSP00000334393:F170V	ENSP00000334393:F170V	F	+	1	0	OR4F5	59461	0.003000	0.15002	0.852000	0.33557	0.777000	0.43975	1.477000	0.35431	1.014000	0.39417	0.327000	0.21459	TTT		0.463	OR4F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003223.1	NM_001005484		121	358	0	0	0	1	0	121	358				
GNAS	2778	broad.mit.edu	37	20	57485017	57485017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57485017C>T	ENST00000371085.3	+	11	1275	c.851C>T	c.(850-852)aCc>aTc	p.T284I	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.T270I|GNAS_ENST00000265620.7_Missense_Mutation_p.T269I|GNAS_ENST00000371100.4_Missense_Mutation_p.T927I|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.T913I|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.T285I|GNAS_ENST00000306090.10_Missense_Mutation_p.T270I	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	284					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGCTGCGCACCATCTCTGTG	0.517			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2779-2781)aCc>aTc		GNAS complex locus							82.0	78.0	80.0					20																	57485017		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57485017C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.851C>T	20.37:g.57485017C>T	ENSP00000360126:p.Thr284Ile	TSP Lung(22;0.16)				GNAS_ENST00000354359.7_Missense_Mutation_p.T285I|GNAS_ENST00000371085.3_Missense_Mutation_p.T284I|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.T270I|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.T270I|GNAS_ENST00000265620.7_Missense_Mutation_p.T269I|GNAS_ENST00000371102.4_Missense_Mutation_p.T913I	p.T927I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		11	3332	+	all_lung(29;0.0104)		284					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2780C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685210	0.88639	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.29	5.29	0.74685	.	0.097920	0.64402	D	0.000001	D	0.94751	0.8306	M	0.82923	2.615	0.80722	D	1	B;B;B;D	0.67145	0.024;0.049;0.04;0.996	B;B;B;D	0.69142	0.116;0.153;0.039;0.962	D	0.94741	0.7919	10	0.56958	D	0.05	.	19.2712	0.94010	0.0:1.0:0.0:0.0	.	284;285;269;927	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	I	927;913;270;284;285;269;270;50	ENSP00000360141:T927I;ENSP00000360143:T913I;ENSP00000360136:T270I;ENSP00000360126:T284I;ENSP00000346328:T285I;ENSP00000265620:T269I;ENSP00000304472:T270I	ENSP00000265620:T269I	T	+	2	0	GNAS	56918412	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.348000	0.79366	2.625000	0.88918	0.591000	0.81541	ACC		0.517	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		13	92	0	0	0	1	0	13	92				
C1QL3	389941	broad.mit.edu	37	10	16562958	16562958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:16562958C>T	ENST00000298943.3	-	1	1046	c.107G>A	c.(106-108)gGg>gAg	p.G36E		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	36					regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTTGGTGCCCCCGTAGGGGTC	0.716																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(106-108)gGg>gAg		complement component 1, q subcomponent-like 3							6.0	10.0	9.0					10																	16562958		2021	4103	6124	SO:0001583	missense	389941					collagen		g.chr10:16562958C>T		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.107G>A	10.37:g.16562958C>T	ENSP00000298943:p.Gly36Glu						p.G36E	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			1	1046	-			36					A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.107G>A	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336415	0.24253	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	D	0.83419	-1.72	3.9	2.98	0.34508	.	0.116516	0.64402	D	0.000020	T	0.74989	0.3789	L	0.43152	1.355	0.44454	D	0.997384	P	0.34699	0.464	B	0.32393	0.145	T	0.70850	-0.4760	10	0.32370	T	0.25	.	12.6951	0.56999	0.1664:0.8336:0.0:0.0	.	36	Q5VWW1	C1QL3_HUMAN	E	36	ENSP00000298943:G36E	ENSP00000298943:G36E	G	-	2	0	C1QL3	16602964	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	4.073000	0.57570	0.830000	0.34757	-0.321000	0.08615	GGG		0.716	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		3	6	0	0	0	1	0	3	6				
UGT2B4	7363	broad.mit.edu	37	4	70355230	70355230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:70355230C>T	ENST00000305107.6	-	3	975	c.929G>A	c.(928-930)gGg>gAg	p.G310E	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.G310E|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G174E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	310					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GACCATCGACCCCAGAGAAAA	0.383																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(928-930)gGg>gAg		UDP glucuronosyltransferase 2 family, polypeptide B4							155.0	152.0	153.0					4																	70355230		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70355230C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.929G>A	4.37:g.70355230C>T	ENSP00000305221:p.Gly310Glu					UGT2B4_ENST00000381096.3_Missense_Mutation_p.G174E|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.G310E	p.G310E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			3	975	-			310					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.929G>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360199	0.41801	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	D;D;T	0.96136	-3.92;-3.92;-0.63	2.25	2.25	0.28309	.	0.000000	0.64402	U	0.000001	D	0.98394	0.9466	H	0.98664	4.295	0.38100	D	0.93724	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.981;1.0	D	0.98490	1.0609	10	0.87932	D	0	.	10.6411	0.45594	0.0:1.0:0.0:0.0	.	174;310;310	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	E	310;310;174	ENSP00000421290:G310E;ENSP00000305221:G310E;ENSP00000370486:G174E	ENSP00000305221:G310E	G	-	2	0	UGT2B4	70389819	1.000000	0.71417	0.035000	0.18076	0.080000	0.17528	6.828000	0.75308	1.596000	0.50062	0.306000	0.20318	GGG		0.383	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		22	283	0	0	0	1	0	22	283				
ARID1A	8289	broad.mit.edu	37	1	27094442	27094442	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27094442C>T	ENST00000324856.7	+	11	3521	c.3150C>T	c.(3148-3150)gaC>gaT	p.D1050D	ARID1A_ENST00000374152.2_Silent_p.D667D|ARID1A_ENST00000457599.2_Silent_p.D1050D	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1050	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCTCTGGACCTCTATCGCC	0.542			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3148-3150)gaC>gaT		AT rich interactive domain 1A (SWI-like)							235.0	192.0	206.0					1																	27094442		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27094442C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3150C>T	1.37:g.27094442C>T						ARID1A_ENST00000374152.2_Silent_p.D667D|ARID1A_ENST00000457599.2_Silent_p.D1050D	p.D1050D	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	11	3521	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1050			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.3150C>T	CCDS285.1																																																																																				0.542	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		23	61	0	0	0	1	0	23	61				
MARCO	8685	broad.mit.edu	37	2	119752093	119752093	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:119752093C>T	ENST00000327097.4	+	17	1695	c.1560C>T	c.(1558-1560)gtC>gtT	p.V520V	MARCO_ENST00000541757.1_Silent_p.V442V	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	520					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGTGCAGCGTCTGACCCGGAA	0.607																																					GBM(8;18 374 7467 11269 32796)	ENST00000541757.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.(1324-1326)gtC>gtT		macrophage receptor with collagenous structure							113.0	88.0	96.0					2																	119752093		2203	4300	6503	SO:0001819	synonymous_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119752093C>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1560C>T	2.37:g.119752093C>T						MARCO_ENST00000327097.4_Silent_p.V520V	p.V442V			Q9UEW3	MARCO_HUMAN			18	1706	+			520			SRCR.		B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	c.1326C>T	CCDS2124.1																																																																																				0.607	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		14	27	0	0	0	1	0	14	27				
PLK2	10769	broad.mit.edu	37	5	57755671	57755671	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:57755671G>A	ENST00000274289.3	-	1	416	c.116C>T	c.(115-117)cCc>cTc	p.P39L	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	39					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CGATTCCTCGGGGGGCTGCGG	0.672																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(115-117)cCc>cTc		polo-like kinase 2							12.0	17.0	15.0					5																	57755671		2187	4276	6463	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57755671G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.116C>T	5.37:g.57755671G>A	ENSP00000274289:p.Pro39Leu						p.P39L	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	1	416	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	39					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.116C>T	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482447	0.44147	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.68765	-0.35	5.26	5.26	0.73747	.	0.356674	0.29900	N	0.010901	T	0.51227	0.1662	N	0.08118	0	0.58432	D	0.999993	B	0.31893	0.345	B	0.36534	0.227	T	0.57808	-0.7747	10	0.59425	D	0.04	-0.6002	14.732	0.69388	0.0:0.0:1.0:0.0	.	39	Q9NYY3	PLK2_HUMAN	L	39	ENSP00000274289:P39L	ENSP00000274289:P39L	P	-	2	0	PLK2	57791428	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	3.688000	0.54699	2.619000	0.88677	0.561000	0.74099	CCC		0.672	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		4	17	0	0	0	1	0	4	17				
TTYH1	57348	broad.mit.edu	37	19	54932463	54932463	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:54932463C>T	ENST00000376530.3	+	3	421	c.318C>T	c.(316-318)ggC>ggT	p.G106G	TTYH1_ENST00000391739.3_Silent_p.G155G|TTYH1_ENST00000301194.4_Silent_p.G106G|TTYH1_ENST00000376531.3_Silent_p.G106G	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	106					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)			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)		CTGGCATTGGCATCGGTTTCT	0.647																																						ENST00000301194.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(316-318)ggC>ggT		tweety family member 1							102.0	84.0	90.0					19																	54932463		2203	4300	6503	SO:0001819	synonymous_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54932463C>T	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.318C>T	19.37:g.54932463C>T						TTYH1_ENST00000391739.3_Silent_p.G155G|TTYH1_ENST00000376531.3_Silent_p.G106G|TTYH1_ENST00000376530.3_Silent_p.G106G	p.G106G			Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	3	440	+	Ovarian(34;0.19)		106					B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	ENST00000376530.3	37	c.318C>T	CCDS12893.1																																																																																				0.647	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			5	48	0	0	0	1	0	5	48				
BRD1	23774	broad.mit.edu	37	22	50191575	50191575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50191575C>T	ENST00000216267.8	-	5	2462	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	BRD1_ENST00000404760.1_Missense_Mutation_p.G659E|BRD1_ENST00000457780.2_Missense_Mutation_p.G659E|BRD1_ENST00000542442.1_Missense_Mutation_p.G347E|BRD1_ENST00000404034.1_Missense_Mutation_p.G659E|BRD1_ENST00000342989.5_Missense_Mutation_p.G254E	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	659					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AACAACACCTCCCTGATCGCG	0.597																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1975-1977)gGa>gAa		bromodomain containing 1							70.0	62.0	65.0					22																	50191575		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50191575C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1976G>A	22.37:g.50191575C>T	ENSP00000216267:p.Gly659Glu					BRD1_ENST00000404034.1_Missense_Mutation_p.G659E|BRD1_ENST00000342989.5_Missense_Mutation_p.G254E|BRD1_ENST00000542442.1_Missense_Mutation_p.G347E|BRD1_ENST00000404760.1_Missense_Mutation_p.G659E|BRD1_ENST00000457780.2_Missense_Mutation_p.G659E	p.G659E	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	5	2462	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	659					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1976G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282550	0.80692	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	5.29	5.29	0.74685	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.87180	2.865	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	0.60752	-0.7201	10	0.54805	T	0.06	.	18.9391	0.92598	0.0:1.0:0.0:0.0	.	659;254;659;659	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	E	659;659;659;659;347;254;119	ENSP00000216267:G659E;ENSP00000384076:G659E;ENSP00000385858:G659E;ENSP00000410042:G659E;ENSP00000437514:G347E;ENSP00000345886:G254E	ENSP00000216267:G659E	G	-	2	0	BRD1	48577579	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	7.549000	0.82163	2.458000	0.83093	0.655000	0.94253	GGA		0.597	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		17	37	0	0	0	1	0	17	37				
PPBP	5473	broad.mit.edu	37	4	74853267	74853267	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:74853267C>T	ENST00000296028.3	-	2	344	c.251G>A	c.(250-252)gGg>gAg	p.G84E		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	84					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGTTCCTTTCCCGATCACTTC	0.438																																						ENST00000296028.3																			0				breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10						c.(250-252)gGg>gAg		pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)							124.0	115.0	118.0					4																	74853267		2203	4300	6503	SO:0001583	missense	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853267C>T	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.251G>A	4.37:g.74853267C>T	ENSP00000296028:p.Gly84Glu						p.G84E	NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		2	344	-	Breast(15;0.00136)		84					B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	c.251G>A	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	C	0.905	-0.720818	0.03182	.	.	ENSG00000163736	ENST00000296028	T	0.03860	3.78	2.8	-0.587	0.11690	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.700151	0.12010	N	0.507933	T	0.01454	0.0047	N	0.02345	-0.59	0.09310	N	1	P	0.39424	0.673	B	0.37550	0.253	T	0.33445	-0.9868	10	0.05833	T	0.94	-0.0119	4.5135	0.11923	0.0:0.4007:0.4495:0.1498	.	84	P02775	CXCL7_HUMAN	E	84	ENSP00000296028:G84E	ENSP00000296028:G84E	G	-	2	0	PPBP	75072131	0.000000	0.05858	0.001000	0.08648	0.670000	0.39368	-0.759000	0.04761	0.049000	0.15920	0.305000	0.20034	GGG		0.438	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		28	62	0	0	0	1	0	28	62				
TMCO2	127391	broad.mit.edu	37	1	40713838	40713838	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:40713838C>T	ENST00000372766.3	+	1	266	c.173C>T	c.(172-174)tCt>tTt	p.S58F	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	58						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGAGGATTTCTTTCTTGATT	0.338																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(172-174)tCt>tTt		transmembrane and coiled-coil domains 2							145.0	151.0	149.0					1																	40713838		2203	4300	6503	SO:0001583	missense	127391					integral to membrane		g.chr1:40713838C>T	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.173C>T	1.37:g.40713838C>T	ENSP00000361852:p.Ser58Phe					TMCO2_ENST00000468258.1_Intron	p.S58F	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	266	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	58						Missense_Mutation	SNP	ENST00000372766.3	37	c.173C>T	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	C	2.670	-0.277707	0.05679	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.34	-7.03	0.01584	.	1.302940	0.05146	N	0.495045	T	0.26666	0.0652	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21930	-1.0231	9	0.33141	T	0.24	0.6614	8.4	0.32581	0.0:0.1477:0.4711:0.3812	.	58	Q7Z6W1	TMCO2_HUMAN	F	58	.	ENSP00000361852:S58F	S	+	2	0	TMCO2	40486425	0.068000	0.21057	0.015000	0.15790	0.003000	0.03518	-1.741000	0.01837	-1.266000	0.02446	0.650000	0.86243	TCT		0.338	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		11	137	0	0	0	1	0	11	137				
PRRG3	79057	broad.mit.edu	37	X	150869219	150869219	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:150869219G>A	ENST00000370353.3	+	4	800	c.410G>A	c.(409-411)gGt>gAt	p.G137D	PRRG3_ENST00000538575.1_Missense_Mutation_p.G137D			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	137						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTACCGGGGTACTGTGCAT	0.682																																						ENST00000370353.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(409-411)gGt>gAt		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							56.0	56.0	56.0					X																	150869219		2203	4300	6503	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869219G>A	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.410G>A	X.37:g.150869219G>A	ENSP00000359378:p.Gly137Asp					PRRG3_ENST00000538575.1_Missense_Mutation_p.G137D	p.G137D			Q9BZD7	TMG3_HUMAN			4	800	+	Acute lymphoblastic leukemia(192;6.56e-05)		137					A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.410G>A	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	G	1.989	-0.432253	0.04669	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98105	-4.72;-4.72	4.22	3.34	0.38264	.	0.100234	0.42294	D	0.000730	D	0.88647	0.6493	N	0.02539	-0.55	0.40824	D	0.983537	B	0.09022	0.002	B	0.09377	0.004	T	0.83121	-0.0118	9	.	.	.	-20.7578	4.85	0.13531	0.2519:0.0:0.7481:0.0	.	137	Q9BZD7	TMG3_HUMAN	D	137	ENSP00000440217:G137D;ENSP00000359378:G137D	.	G	+	2	0	PRRG3	150619875	0.998000	0.40836	0.796000	0.32109	0.244000	0.25665	3.620000	0.54203	2.050000	0.60909	0.529000	0.55759	GGT		0.682	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		33	61	0	0	0	1	0	33	61				
LRP1B	53353	broad.mit.edu	37	2	142238060	142238060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:142238060G>A	ENST00000389484.3	-	3	1219	c.248C>T	c.(247-249)gCt>gTt	p.A83V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	83	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCAAGGCAAGCAATGTGATT	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(247-249)gCt>gTt		low density lipoprotein receptor-related protein 1B							139.0	121.0	127.0					2																	142238060		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142238060G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.248C>T	2.37:g.142238060G>A	ENSP00000374135:p.Ala83Val	TSP Lung(27;0.18)					p.A83V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	3	1219	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	83			LDL-receptor class A 2.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.248C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628800	0.46944	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95482	-3.72	5.52	5.52	0.82312	.	0.239569	0.36555	N	0.002528	D	0.93494	0.7924	L	0.60957	1.885	0.26781	N	0.969607	B	0.28470	0.213	B	0.31946	0.138	D	0.86154	0.1589	10	0.30078	T	0.28	.	12.6165	0.56580	0.0:0.1246:0.7465:0.1289	.	83	Q9NZR2	LRP1B_HUMAN	V	83;19	ENSP00000374135:A83V	ENSP00000374135:A83V	A	-	2	0	LRP1B	141954530	0.983000	0.35010	0.996000	0.52242	0.304000	0.27724	2.020000	0.41010	2.760000	0.94817	0.655000	0.94253	GCT		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		29	61	0	0	0	1	0	29	61				
UBL3	5412	broad.mit.edu	37	13	30341782	30341782	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:30341782C>T	ENST00000380680.4	-	4	1419	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	92						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		GGTAATGTCTCTCTGGCCACC	0.383																																						ENST00000380680.4																			0				large_intestine(3)|lung(1)	4						c.(274-276)Gag>Aag		ubiquitin-like 3							161.0	135.0	144.0					13																	30341782		2203	4300	6503	SO:0001583	missense	5412					intracellular|plasma membrane		g.chr13:30341782C>T	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.274G>A	13.37:g.30341782C>T	ENSP00000370055:p.Glu92Lys						p.E92K	NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	4	1419	-		Lung SC(185;0.0281)	92					B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	c.274G>A	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390024	0.82902	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	M	0.64997	1.995	0.80722	D	1	B	0.34214	0.442	B	0.29176	0.099	T	0.60475	-0.7256	9	0.40728	T	0.16	-15.8225	19.2859	0.94069	0.0:1.0:0.0:0.0	.	92	O95164	UBL3_HUMAN	K	92	.	ENSP00000370055:E92K	E	-	1	0	UBL3	29239782	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.150000	0.77403	2.873000	0.98535	0.563000	0.77884	GAG		0.383	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106		18	52	0	0	0	1	0	18	52				
NEK5	341676	broad.mit.edu	37	13	52661545	52661545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:52661545C>T	ENST00000355568.4	-	15	1460	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	441					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTTCTTAGCTCTTGTCTCTGG	0.383																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1321-1323)Gag>Aag		NIMA-related kinase 5							149.0	140.0	143.0					13																	52661545		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52661545C>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1321G>A	13.37:g.52661545C>T	ENSP00000347767:p.Glu441Lys						p.E441K	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	15	1460	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	441					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1321G>A	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	2.785	-0.252620	0.05829	.	.	ENSG00000197168	ENST00000355568	T	0.70516	-0.49	5.45	-0.369	0.12534	.	1.571640	0.03423	N	0.206624	T	0.50069	0.1594	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34775	-0.9815	10	0.08381	T	0.77	.	8.7524	0.34626	0.0:0.2903:0.0:0.7097	.	441	Q6P3R8	NEK5_HUMAN	K	441	ENSP00000347767:E441K	ENSP00000347767:E441K	E	-	1	0	NEK5	51559546	0.000000	0.05858	0.005000	0.12908	0.654000	0.38779	-2.002000	0.01464	-0.175000	0.10725	0.655000	0.94253	GAG		0.383	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		19	46	0	0	0	1	0	19	46				
PKD1L1	168507	broad.mit.edu	37	7	47906179	47906179	+	Silent	SNP	G	G	A	rs372608316		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:47906179G>A	ENST00000289672.2	-	25	3980	c.3930C>T	c.(3928-3930)ctC>ctT	p.L1310L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1310	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCATCAGCTGGAGGGTAGAAA	0.448																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3928-3930)ctC>ctT		polycystic kidney disease 1 like 1		G		0,4406		0,0,2203	123.0	116.0	118.0		3930	-0.1	0.4	7		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKD1L1	NM_138295.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1310/2850	47906179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47906179G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3930C>T	7.37:g.47906179G>A							p.L1310L	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			25	3980	-			1310			REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.3930C>T	CCDS34633.1																																																																																				0.448	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		26	116	0	0	0	1	0	26	116				
CHD3	1107	broad.mit.edu	37	17	7807807	7807807	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7807807C>T	ENST00000330494.7	+	25	4092	c.3942C>T	c.(3940-3942)gaC>gaT	p.D1314D	CHD3_ENST00000380358.4_Silent_p.D1373D|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.D1314D	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1314					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGAATGTGGACCCTGACTACT	0.507																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(4117-4119)gaC>gaT		chromodomain helicase DNA binding protein 3							144.0	129.0	134.0					17																	7807807		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7807807C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3942C>T	17.37:g.7807807C>T						CHD3_ENST00000358181.4_Silent_p.D1314D|CHD3_ENST00000330494.7_Silent_p.D1314D	p.D1373D	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			25	4120	+		Prostate(122;0.202)	1314					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.4119C>T	CCDS32554.1																																																																																				0.507	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		6	64	0	0	0	1	0	6	64				
KANK1	23189	broad.mit.edu	37	9	713007	713007	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:713007G>A	ENST00000382303.1	+	7	2893	c.2241G>A	c.(2239-2241)ggG>ggA	p.G747G	KANK1_ENST00000382293.3_Silent_p.G589G|KANK1_ENST00000382297.2_Silent_p.G747G|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	747					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCATTCTGGGTTTGACAGGC	0.498																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(2239-2241)ggG>ggA		KN motif and ankyrin repeat domains 1							112.0	106.0	108.0					9																	713007		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:713007G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2241G>A	9.37:g.713007G>A						KANK1_ENST00000382297.2_Silent_p.G747G|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G589G	p.G747G	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2893	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	747					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.2241G>A	CCDS34976.1																																																																																				0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		6	31	0	0	0	1	0	6	31				
PRSS36	146547	broad.mit.edu	37	16	31152851	31152851	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:31152851C>T	ENST00000268281.4	-	12	1898	c.1840G>A	c.(1840-1842)Gtc>Atc	p.V614I	PRSS36_ENST00000569305.1_Missense_Mutation_p.V609I|PRSS36_ENST00000418068.2_Missense_Mutation_p.V614I	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	614	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGTGCAGACTCGATCACCA	0.672																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(1840-1842)Gtc>Atc		protease, serine, 36							46.0	52.0	50.0					16																	31152851		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31152851C>T	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.1840G>A	16.37:g.31152851C>T	ENSP00000268281:p.Val614Ile					PRSS36_ENST00000569305.1_Missense_Mutation_p.V609I|PRSS36_ENST00000418068.2_Missense_Mutation_p.V614I	p.V614I	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			12	1898	-			614			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.1840G>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644768	0.67358	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;T	0.88354	-2.37;-1.46	5.29	1.87	0.25490	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81226	0.4778	N	0.20401	0.57	0.20307	N	0.999913	B;P;P	0.52463	0.114;0.953;0.953	B;P;P	0.54174	0.026;0.744;0.744	T	0.71606	-0.4542	9	0.07482	T	0.82	.	2.0119	0.03489	0.1605:0.5065:0.1558:0.1772	.	614;609;614	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	I	614	ENSP00000268281:V614I;ENSP00000407160:V614I	ENSP00000268281:V614I	V	-	1	0	PRSS36	31060352	0.953000	0.32496	0.921000	0.36526	0.970000	0.65996	2.060000	0.41394	1.228000	0.43614	0.455000	0.32223	GTC		0.672	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		4	69	0	0	0	1	0	4	69				
MET	4233	broad.mit.edu	37	7	116423402	116423402	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116423402C>A	ENST00000318493.6	+	19	3918	c.3731C>A	c.(3730-3732)gCc>gAc	p.A1244D	MET_ENST00000397752.3_Missense_Mutation_p.A1226D|MET_ENST00000539704.1_Missense_Mutation_p.A96D			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGGTCTTGCCAGAGACATG	0.378			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3676-3678)gCc>gAc		met proto-oncogene							108.0	100.0	103.0					7																	116423402		1846	4091	5937	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116423402C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3731C>A	7.37:g.116423402C>A	ENSP00000317272:p.Ala1244Asp					MET_ENST00000318493.6_Missense_Mutation_p.A1244D|MET_ENST00000539704.1_Missense_Mutation_p.A96D	p.A1226D	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		19	3877	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1226			Interaction with RANBP9.|Protein kinase.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3677C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615046	0.87359	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.45276	0.9;0.9;0.9	5.46	5.46	0.80206	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.80679	-0.1275	10	0.87932	D	0	.	19.6667	0.95895	0.0:1.0:0.0:0.0	.	1244;1226	P08581-2;P08581	.;MET_HUMAN	D	1226;1244;96	ENSP00000380860:A1226D;ENSP00000317272:A1244D;ENSP00000445020:A96D	ENSP00000317272:A1244D	A	+	2	0	MET	116210638	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.721000	0.93114	0.563000	0.77884	GCC		0.378	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			6	164	1	0	2.0095e-06	1	2.015e-06	6	164				
MDGA1	266727	broad.mit.edu	37	6	37612341	37612341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:37612341G>A	ENST00000434837.3	-	13	3511	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V	MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000505425.1_Missense_Mutation_p.A778V|MDGA1_ENST00000297153.7_Missense_Mutation_p.A782V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	778	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGGGTGAGGGCATTCTGCCG	0.577																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(2332-2334)gCc>gTc		MAM domain containing glycosylphosphatidylinositol anchor 1							96.0	97.0	97.0					6																	37612341		1990	4154	6144	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37612341G>A	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2333C>T	6.37:g.37612341G>A	ENSP00000402584:p.Ala778Val					MDGA1_ENST00000505425.1_Missense_Mutation_p.A778V|MDGA1_ENST00000297153.7_Missense_Mutation_p.A782V	p.A778V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			13	3511	-			778			MAM.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.2333C>T	CCDS47417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.399162|3.399162	0.62177|0.62177	.|.	.|.	ENSG00000112139|ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425|ENST00000418178	T;T;T|.	0.02323|.	4.34;4.34;4.34|.	5.18|5.18	5.18|5.18	0.71444|0.71444	Concanavalin A-like lectin/glucanase (1);MAM domain (3);|.	0.000000|.	0.47093|.	D|.	0.000249|.	T|T	0.45276|0.45276	0.1334|0.1334	L|L	0.55990|0.55990	1.75|1.75	0.33322|0.33322	D|D	0.567495|0.567495	P;P|.	0.47910|.	0.902;0.692|.	P;B|.	0.46659|.	0.523;0.3|.	T|T	0.47086|0.47086	-0.9144|-0.9144	10|5	0.35671|.	T|.	0.21|.	.|.	11.5382|11.5382	0.50651|0.50651	0.0815:0.0:0.9185:0.0|0.0815:0.0:0.9185:0.0	.|.	778;778|.	Q8NFP4-2;Q8NFP4|.	.;MDGA1_HUMAN|.	V|S	778;782;778|88	ENSP00000402584:A778V;ENSP00000297153:A782V;ENSP00000422042:A778V|.	ENSP00000297153:A782V|.	A|P	-|-	2|1	0|0	MDGA1|MDGA1	37720319|37720319	0.865000|0.865000	0.29922|0.29922	0.995000|0.995000	0.50966|0.50966	0.994000|0.994000	0.84299|0.84299	2.283000|2.283000	0.43470|0.43470	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.577	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			16	15	0	0	0	1	0	16	15				
TTLL2	83887	broad.mit.edu	37	6	167754990	167754990	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:167754990G>A	ENST00000239587.5	+	3	1690	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	534					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACTCCTGCAAGACCAAGACCT	0.547																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1600-1602)aaG>aaA		tubulin tyrosine ligase-like family, member 2							135.0	115.0	122.0					6																	167754990		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754990G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1602G>A	6.37:g.167754990G>A							p.K534K	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1690	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	534					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.1602G>A	CCDS5301.1																																																																																				0.547	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		31	60	0	0	0	1	0	31	60				
PCYOX1	51449	broad.mit.edu	37	2	70486527	70486527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:70486527G>A	ENST00000433351.2	+	2	176	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000264441.5_Missense_Mutation_p.A50T|PCYOX1_ENST00000545138.1_5'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	50					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CACTTCAGCAGCCTATTACCT	0.468																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(148-150)Gcc>Acc		prenylcysteine oxidase 1							156.0	176.0	169.0					2																	70486527		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70486527G>A	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.148G>A	2.37:g.70486527G>A	ENSP00000387654:p.Ala50Thr					PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000264441.5_Missense_Mutation_p.A50T|PCYOX1_ENST00000545138.1_5'UTR	p.A50T	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			2	176	+			50					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.148G>A	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936839	0.73557	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.56444	0.46;0.46	5.39	4.45	0.53987	FAD dependent oxidoreductase (1);	0.046667	0.85682	D	0.000000	T	0.72993	0.3530	M	0.84846	2.72	0.80722	D	1	D;D	0.69078	0.961;0.997	P;D	0.64506	0.765;0.926	T	0.77143	-0.2696	10	0.62326	D	0.03	-17.2716	15.3138	0.74056	0.0:0.0:0.8509:0.1491	.	50;50	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	T	50	ENSP00000387654:A50T;ENSP00000264441:A50T	ENSP00000264441:A50T	A	+	1	0	PCYOX1	70340031	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.240000	0.78192	2.795000	0.96236	0.655000	0.94253	GCC		0.468	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		9	234	0	0	0	1	0	9	234				
COL26A1	136227	broad.mit.edu	37	7	101063377	101063377	+	RNA	SNP	T	T	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:101063377T>A	ENST00000397927.3	+	0	491				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GCCAACCTCGTAAGGTAAAGG	0.657																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1							31.0	39.0	36.0					7																	101063377		1979	4160	6139			136227							g.chr7:101063377T>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063377T>A						COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA		NM_133457.2	NP_597714.2					0	470	+								Q32M90	RNA	SNP	ENST00000397927.3	37			.	.	.	.	.	.	.	.	.	.	T	26.5	4.741045	0.89573	.	.	ENSG00000160963	ENST00000313669	D	0.91843	-2.92	4.95	4.95	0.65309	EMI domain (2);	0.000000	0.33650	U	0.004695	D	0.94732	0.8300	M	0.68952	2.095	0.35384	D	0.790161	D;D	0.71674	0.998;0.998	D;D	0.74023	0.982;0.982	D	0.96493	0.9365	10	0.44086	T	0.13	.	12.5981	0.56481	0.0:0.0:0.0:1.0	.	93;93	Q96A83;C9JPW4	EMID2_HUMAN;.	E	93	ENSP00000318234:V93E	ENSP00000318234:V93E	V	+	2	0	EMID2	100850097	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.199000	0.77831	1.871000	0.54225	0.456000	0.33151	GTA		0.657	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		32	50	0	0	0	1	0	32	50				
MSTO1	55154	broad.mit.edu	37	1	155582290	155582290	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155582290C>T	ENST00000245564.2	+	9	919	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S	MSTO1_ENST00000368341.4_Missense_Mutation_p.P264S|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	299					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TCTTGTCTGCCCCTTGTCCTT	0.532																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(895-897)Ccc>Tcc		misato 1, mitochondrial distribution and morphology regulator							88.0	78.0	81.0					1																	155582290		2203	4300	6503	SO:0001583	missense	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582290C>T	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.895C>T	1.37:g.155582290C>T	ENSP00000245564:p.Pro299Ser					MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.P264S	p.P299S	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			9	919	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		299					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	ENST00000245564.2	37	c.895C>T	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	13.61	2.288580	0.40494	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.65549	-0.16;-0.16	3.1	3.1	0.35709	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.76800	0.4038	M	0.88512	2.96	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;1.0;1.0;1.0	T	0.81084	-0.1093	10	0.51188	T	0.08	.	14.2456	0.65986	0.0:1.0:0.0:0.0	.	244;299;264;121;299;299;299	B4DLS9;A8K3J5;Q9BUK6-7;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;MSTO1_HUMAN;.;.	S	299;264	ENSP00000245564:P299S;ENSP00000357325:P264S	ENSP00000245564:P299S	P	+	1	0	MSTO1	153848914	1.000000	0.71417	0.817000	0.32601	0.014000	0.08584	6.958000	0.76025	1.728000	0.51552	0.205000	0.17691	CCC		0.532	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		37	59	0	0	0	1	0	37	59				
GOLGB1	2804	broad.mit.edu	37	3	121412777	121412777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:121412777C>T	ENST00000340645.5	-	13	6703	c.6578G>A	c.(6577-6579)aGc>aAc	p.S2193N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S2198N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2193					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGAAGACATGCTCTTAGTAAA	0.428																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(6592-6594)aGc>aAc		golgin B1							208.0	190.0	196.0					3																	121412777		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121412777C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6578G>A	3.37:g.121412777C>T	ENSP00000341848:p.Ser2193Asn					GOLGB1_ENST00000340645.5_Missense_Mutation_p.S2193N	p.S2198N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	6703	-			2193					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.6593G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.086965	0.36855	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.24723	1.84;1.84	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.51143	0.1657	M	0.72894	2.215	0.46499	D	0.999074	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.994;0.994;0.998	T	0.36286	-0.9754	10	0.34782	T	0.22	.	17.4537	0.87600	0.0:1.0:0.0:0.0	.	2118;2198;2198;2193	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	N	2193;2198	ENSP00000341848:S2193N;ENSP00000377275:S2198N	ENSP00000341848:S2193N	S	-	2	0	GOLGB1	122895467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.074000	0.50065	2.716000	0.92895	0.655000	0.94253	AGC		0.428	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		50	117	0	0	0	1	0	50	117				
GRN	2896	broad.mit.edu	37	17	42426849	42426849	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:42426849C>T	ENST00000053867.3	+	3	256	c.194C>T	c.(193-195)gCc>gTc	p.A65V	GRN_ENST00000589265.1_Missense_Mutation_p.A65V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	65					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGGTTGATGCCCACTGCTCT	0.592																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(193-195)gCc>gTc		granulin							74.0	75.0	75.0					17																	42426849		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42426849C>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.194C>T	17.37:g.42426849C>T	ENSP00000053867:p.Ala65Val					GRN_ENST00000589265.1_Missense_Mutation_p.A65V	p.A65V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	3	256	+		Prostate(33;0.0181)	65					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.194C>T	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	c	16.48	3.133866	0.56828	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.77098	-1.07	4.64	-1.94	0.07571	Granulin (1);	0.760949	0.11510	N	0.556828	T	0.63920	0.2552	L	0.29908	0.895	0.09310	N	1	P	0.45348	0.856	P	0.44394	0.448	T	0.56378	-0.7989	10	0.18276	T	0.48	-5.9541	8.1364	0.31056	0.2855:0.2954:0.4191:0.0	.	65	P28799	GRN_HUMAN	V	65	ENSP00000053867:A65V	ENSP00000053867:A65V	A	+	2	0	GRN	39782375	0.000000	0.05858	0.013000	0.15412	0.007000	0.05969	-0.326000	0.07965	-0.232000	0.09811	0.450000	0.29827	GCC		0.592	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		34	72	0	0	0	1	0	34	72				
GOT1	2805	broad.mit.edu	37	10	101165540	101165540	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101165540C>T	ENST00000370508.5	-	5	642	c.615G>A	c.(613-615)caG>caA	p.Q205Q	GOT1_ENST00000543866.1_Silent_p.Q184Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	205					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	TCTGCTTCCACTGCTCCGGAG	0.443																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(613-615)caG>caA		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						87.0	82.0	84.0					10																	101165540		2203	4300	6503	SO:0001819	synonymous_variant	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101165540C>T	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.615G>A	10.37:g.101165540C>T						GOT1_ENST00000543866.1_Silent_p.Q184Q	p.Q205Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	5	642	-		Ovarian(717;0.028)|Colorectal(252;0.234)	205					B2R6R7|B7Z7E9|Q5VW80	Silent	SNP	ENST00000370508.5	37	c.615G>A	CCDS7479.1																																																																																				0.443	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		4	48	0	0	0	1	0	4	48				
MROH5	389690	broad.mit.edu	37	8	142500334	142500334	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:142500334C>T	ENST00000430863.1	-	0	660					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CAGATGGCCACCAGCATGTTG	0.637																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							31.0	38.0	36.0					8																	142500334		2047	4177	6224			389690							g.chr8:142500334C>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142500334C>T								NM_207414.2	NP_997297.2					0	660	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.637	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		20	29	0	0	0	1	0	20	29				
ELANE	1991	broad.mit.edu	37	19	853400	853400	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:853400C>T	ENST00000590230.1	+	4	504	c.363C>T	c.(361-363)ctC>ctT	p.L121L	ELANE_ENST00000263621.1_Silent_p.L121L			P08246	ELNE_HUMAN	elastase, neutrophil expressed	121	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		L -> P (in SCN1). {ECO:0000269|PubMed:14962902, ECO:0000269|PubMed:23463630}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCGTGATTCTCCAGGTgccgc	0.726																																						ENST00000590230.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13						c.(361-363)ctC>ctT		elastase, neutrophil expressed	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						15.0	15.0	15.0					19																	853400		2140	4183	6323	SO:0001819	synonymous_variant	1991				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:853400C>T		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.363C>T	19.37:g.853400C>T						ELANE_ENST00000263621.1_Silent_p.L121L	p.L121L			P08246	ELNE_HUMAN			4	504	+			121			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Silent	SNP	ENST00000590230.1	37	c.363C>T	CCDS12045.1																																																																																				0.726	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		4	10	0	0	0	1	0	4	10				
IL1RAP	3556	broad.mit.edu	37	3	190363557	190363557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:190363557C>T	ENST00000412504.2	+	10	1523	c.1271C>T	c.(1270-1272)aCc>aTc	p.T424I	IL1RAP_ENST00000439062.1_Missense_Mutation_p.T424I|IL1RAP_ENST00000443369.2_Missense_Mutation_p.T424I|IL1RAP_ENST00000317757.3_Missense_Mutation_p.T424I|IL1RAP_ENST00000072516.3_Missense_Mutation_p.T424I|IL1RAP_ENST00000447382.1_Missense_Mutation_p.T424I			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	424	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GTATTACTGACCCTCCGTGGA	0.398																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1270-1272)aCc>aTc		interleukin 1 receptor accessory protein							110.0	107.0	108.0					3																	190363557		2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190363557C>T	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1271C>T	3.37:g.190363557C>T	ENSP00000412053:p.Thr424Ile					IL1RAP_ENST00000443369.2_Missense_Mutation_p.T424I|IL1RAP_ENST00000072516.3_Missense_Mutation_p.T424I|IL1RAP_ENST00000317757.3_Missense_Mutation_p.T424I|IL1RAP_ENST00000439062.1_Missense_Mutation_p.T424I|IL1RAP_ENST00000447382.1_Missense_Mutation_p.T424I	p.T424I			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	10	1523	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		424			TIR.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.1271C>T	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274409	0.40194	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000317757	T;T;T;T;T;T	0.05717	3.4;3.4;3.4;3.4;3.4;3.4	5.63	5.63	0.86233	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.102738	0.64402	D	0.000004	T	0.13072	0.0317	N	0.25825	0.765	0.80722	D	1	D;P	0.89917	1.0;0.855	D;P	0.87578	0.998;0.863	T	0.04976	-1.0914	10	0.02654	T	1	.	18.678	0.91535	0.0:1.0:0.0:0.0	.	424;424	Q9NPH3-5;Q9NPH3	.;IL1AP_HUMAN	I	424	ENSP00000072516:T424I;ENSP00000408893:T424I;ENSP00000412053:T424I;ENSP00000401132:T424I;ENSP00000390541:T424I;ENSP00000314807:T424I	ENSP00000072516:T424I	T	+	2	0	IL1RAP	191846251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.372000	0.79612	2.669000	0.90835	0.655000	0.94253	ACC		0.398	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			15	73	0	0	0	1	0	15	73				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			6	121	0	0	0	1	0	6	121				
EPHA2	1969	broad.mit.edu	37	1	16456828	16456828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16456828C>T	ENST00000358432.5	-	15	2716	c.2562G>A	c.(2560-2562)tgG>tgA	p.W854*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	854	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCTCCTGCTGCCAGCACTGCA	0.617																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2560-2562)tgG>tgA		EPH receptor A2	Dasatinib(DB01254)						55.0	55.0	55.0					1																	16456828		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456828C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2562G>A	1.37:g.16456828C>T	ENSP00000351209:p.Trp854*						p.W854*	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	15	2716	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	854			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.2562G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	42	9.366212	0.99150	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.63	5.63	0.86233	.	0.000000	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2443	0.89979	0.0:1.0:0.0:0.0	.	.	.	.	X	854	.	ENSP00000351209:W854X	W	-	3	0	EPHA2	16329415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.058000	0.71126	2.670000	0.90874	0.655000	0.94253	TGG		0.617	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		22	32	0	0	0	1	0	22	32				
KCNA7	3743	broad.mit.edu	37	19	49573946	49573946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49573946C>T	ENST00000221444.1	-	2	1100	c.745G>A	c.(745-747)Gct>Act	p.A249T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	249					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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GGAAGGATAGCCACAAAATCG	0.552																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(745-747)Gct>Act		potassium voltage-gated channel, shaker-related subfamily, member 7							140.0	110.0	120.0					19																	49573946		2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573946C>T	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.745G>A	19.37:g.49573946C>T	ENSP00000221444:p.Ala249Thr						p.A249T	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1100	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	249					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.745G>A	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022956	0.75275	.	.	ENSG00000104848	ENST00000221444	D	0.98684	-5.07	4.38	4.38	0.52667	Ion transport (1);	0.109124	0.64402	D	0.000008	D	0.99118	0.9696	M	0.87682	2.9	0.53688	D	0.999979	D	0.69078	0.997	D	0.68621	0.959	D	0.99360	1.0917	10	0.87932	D	0	.	16.0648	0.80863	0.0:1.0:0.0:0.0	.	249	Q96RP8	KCNA7_HUMAN	T	249	ENSP00000221444:A249T	ENSP00000221444:A249T	A	-	1	0	KCNA7	54265758	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	3.063000	0.49978	2.177000	0.69029	0.313000	0.20887	GCT		0.552	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		6	51	0	0	0	1	0	6	51				
LCA5	167691	broad.mit.edu	37	6	80201408	80201408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:80201408C>T	ENST00000392959.1	-	7	1606	c.995G>A	c.(994-996)gGa>gAa	p.G332E	LCA5_ENST00000467898.3_Missense_Mutation_p.G332E|LCA5_ENST00000369846.4_Missense_Mutation_p.G332E	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	332					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGTTTGTACTCCTTTTGTACA	0.328																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(994-996)gGa>gAa		Leber congenital amaurosis 5							217.0	207.0	211.0					6																	80201408		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80201408C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.995G>A	6.37:g.80201408C>T	ENSP00000376686:p.Gly332Glu					LCA5_ENST00000369846.4_Missense_Mutation_p.G332E|LCA5_ENST00000467898.2_Missense_Mutation_p.G332E	p.G332E	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	7	1606	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	332					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.995G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486827	0.63962	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.35048	1.33;1.33	5.11	2.35	0.29111	.	0.203418	0.40302	N	0.001127	T	0.32675	0.0837	L	0.59436	1.845	0.34565	D	0.712805	D	0.63046	0.992	P	0.60068	0.868	T	0.25222	-1.0138	10	0.72032	D	0.01	-14.9681	6.5595	0.22479	0.0:0.6899:0.1471:0.163	.	332	Q86VQ0	LCA5_HUMAN	E	332	ENSP00000358861:G332E;ENSP00000376686:G332E	ENSP00000358861:G332E	G	-	2	0	LCA5	80258127	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	1.079000	0.30766	0.406000	0.25560	0.591000	0.81541	GGA		0.328	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		7	143	0	0	0	1	0	7	143				
MCHR2	84539	broad.mit.edu	37	6	100395841	100395841	+	Silent	SNP	C	C	T	rs199952808		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:100395841C>T	ENST00000281806.2	-	3	503	c.189G>A	c.(187-189)agG>agA	p.R63R	MCHR2_ENST00000369212.2_Silent_p.R63R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	63			R -> K (no changes in receptor binding or functional signaling). {ECO:0000269|PubMed:15340116}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGTTTTTTTCCTGGATCTGA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		18459	0.0		0.001	False		,,,				2504	0.0					ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(187-189)agG>agA		melanin-concentrating hormone receptor 2							54.0	57.0	56.0					6																	100395841		2203	4300	6503	SO:0001819	synonymous_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100395841C>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.189G>A	6.37:g.100395841C>T						MCHR2_ENST00000445970.1_Silent_p.R63R|MCHR2_ENST00000369212.1_Silent_p.R63R	p.R63R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	3	503	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	63		R -> K (no changes in receptor binding or functional signaling).			B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.189G>A	CCDS5044.1																																																																																				0.403	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		10	31	0	0	0	1	0	10	31				
STXBP5	134957	broad.mit.edu	37	6	147599233	147599233	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:147599233C>T	ENST00000321680.6	+	8	731	c.731C>T	c.(730-732)gCt>gTt	p.A244V	STXBP5_ENST00000367481.3_Missense_Mutation_p.A244V|STXBP5_ENST00000367480.3_Missense_Mutation_p.A244V|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.A244V	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	244					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CACTCTGTTGCTTGGCATCAT	0.328																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(730-732)gCt>gTt		syntaxin binding protein 5 (tomosyn)							104.0	97.0	99.0					6																	147599233		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147599233C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.731C>T	6.37:g.147599233C>T	ENSP00000321826:p.Ala244Val					STXBP5_ENST00000367480.3_Missense_Mutation_p.A244V|STXBP5_ENST00000321680.6_Missense_Mutation_p.A244V|STXBP5_ENST00000546097.1_Missense_Mutation_p.A244V|STXBP5_ENST00000179882.6_5'UTR	p.A244V	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	8	839	+		Ovarian(120;0.0164)	244					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.731C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276921	0.80580	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.55	5.55	0.83447	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	0.67107	0.2858	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.974	T	0.58216	-0.7675	10	0.15066	T	0.55	.	19.4654	0.94935	0.0:1.0:0.0:0.0	.	244;244	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	V	244	ENSP00000356451:A244V;ENSP00000441479:A244V;ENSP00000321826:A244V;ENSP00000356450:A244V	ENSP00000321826:A244V	A	+	2	0	STXBP5	147640926	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.445000	0.80570	2.769000	0.95229	0.491000	0.48974	GCT		0.328	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			6	34	0	0	0	1	0	6	34				
KRTAP15-1	254950	broad.mit.edu	37	21	31812840	31812840	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:31812840C>T	ENST00000334067.3	+	1	244	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	65						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AGACATCCTGCACTTTGGCCA	0.507																																						ENST00000334067.3																			0				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(193-195)tgC>tgT		keratin associated protein 15-1							116.0	109.0	111.0					21																	31812840		2203	4300	6503	SO:0001819	synonymous_variant	254950					intermediate filament		g.chr21:31812840C>T	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.195C>T	21.37:g.31812840C>T							p.C65C	NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN			1	244	+			65					Q2M3F4	Silent	SNP	ENST00000334067.3	37	c.195C>T	CCDS13593.1																																																																																				0.507	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			8	102	0	0	0	1	0	8	102				
WNK2	65268	broad.mit.edu	37	9	96054642	96054642	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:96054642G>A	ENST00000297954.4	+	22	5100	c.5100G>A	c.(5098-5100)gtG>gtA	p.V1700V	WNK2_ENST00000395477.2_Silent_p.V1663V|WNK2_ENST00000356055.3_Silent_p.V27V|WNK2_ENST00000427277.2_Silent_p.V1275V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.V1312V	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1700					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAAGGCAGGTGGCCTCAGACT	0.577																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(5098-5100)gtG>gtA		WNK lysine deficient protein kinase 2							195.0	183.0	187.0					9																	96054642		2203	4300	6503	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96054642G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5100G>A	9.37:g.96054642G>A						WNK2_ENST00000356055.3_Silent_p.V27V|WNK2_ENST00000349097.3_Silent_p.V1312V|WNK2_ENST00000395477.2_Silent_p.V1663V|WNK2_ENST00000427277.2_Silent_p.V1275V|WNK2_ENST00000395475.2_3'UTR	p.V1700V			Q9Y3S1	WNK2_HUMAN			22	5100	+			1700					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.5100G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.971|9.971	1.225505|1.225505	0.22457|0.22457	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718	.|.	.|.	.|.	4.13|4.13	-0.374|-0.374	0.12512|0.12512	.|.	.|.	.|.	.|.	.|.	T|.	0.21307|.	0.0513|.	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999945|0.999945	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24764|.	-1.0151|.	4|.	.|.	.|.	.|.	.|.	2.6404|2.6404	0.04969|0.04969	0.4092:0.0:0.3772:0.2136|0.4092:0.0:0.3772:0.2136	.|.	.|.	.|.	.|.	S|X	1267|1659;460;185	.|.	.|.	G|W	+|+	1|2	0|0	WNK2|WNK2	95094463|95094463	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.659000|0.659000	0.38960|0.38960	-0.071000|-0.071000	0.11505|0.11505	0.107000|0.107000	0.17824|0.17824	0.555000|0.555000	0.69702|0.69702	GGC|TGG		0.577	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		38	87	0	0	0	1	0	38	87				
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AATTTGTCAACATTCGTGACA	0.418																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698262C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698262C>G								NR_003264.2						0	1610	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.418	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	124	0	0	0	1	0	7	124				
SMPD1	6609	broad.mit.edu	37	11	6412089	6412089	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:6412089G>A	ENST00000342245.4	+	1	429	c.261G>A	c.(259-261)ggG>ggA	p.G87G	SMPD1_ENST00000356761.2_Silent_p.G87G|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Silent_p.G87G|SMPD1_ENST00000527275.1_Silent_p.G87G	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	85	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TTGGGTGGGGGAACCTCACCT	0.602																																						ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(259-261)ggG>ggA		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						57.0	59.0	58.0					11																	6412089		2201	4296	6497	SO:0001819	synonymous_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412089G>A	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.261G>A	11.37:g.6412089G>A						SMPD1_ENST00000527275.1_Silent_p.G87G|SMPD1_ENST00000356761.2_Silent_p.G87G|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Silent_p.G87G	p.G87G	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	429	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	85			Saposin B-type.		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	37	c.261G>A	CCDS44531.1																																																																																				0.602	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		23	20	0	0	0	1	0	23	20				
ZNF490	57474	broad.mit.edu	37	19	12691765	12691765	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12691765C>T	ENST00000311437.6	-	5	1246	c.1124G>A	c.(1123-1125)aGt>aAt	p.S375N	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_Missense_Mutation_p.V9I	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCACAGGAACTAGATGACTT	0.413																																						ENST00000593682.1																			0											c.(25-27)Gtt>Att									93.0	96.0	95.0					19																	12691765		2203	4300	6503	SO:0001583	missense	0							g.chr19:12691765C>T	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.1124G>A	19.37:g.12691765C>T	ENSP00000311521:p.Ser375Asn					ZNF490_ENST00000311437.6_Missense_Mutation_p.S375N	p.V9I							1	24	-									Missense_Mutation	SNP	ENST00000311437.6	37	c.25G>A	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	5.963	0.361587	0.11296	.	.	ENSG00000188033	ENST00000311437	T	0.03181	4.02	0.996	-1.53	0.08611	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	M	0.77313	2.365	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.29088	-1.0023	9	0.54805	T	0.06	.	6.2411	0.20791	0.0:0.2762:0.0:0.7238	.	375	Q9ULM2	ZN490_HUMAN	N	375	ENSP00000311521:S375N	ENSP00000311521:S375N	S	-	2	0	ZNF490	12552765	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-5.369000	0.00127	-0.480000	0.06803	-0.339000	0.08088	AGT		0.413	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		8	106	0	0	0	1	0	8	106				
TBRG4	9238	broad.mit.edu	37	7	45145117	45145117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:45145117C>T	ENST00000258770.3	-	3	779	c.658G>A	c.(658-660)Gat>Aat	p.D220N	SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000471142.1_5'Flank|TBRG4_ENST00000361278.3_Missense_Mutation_p.D220N|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA|TBRG4_ENST00000395655.4_Missense_Mutation_p.D220N|TBRG4_ENST00000494076.1_Missense_Mutation_p.D220N	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	220					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GTGTGGGAATCTTCAATTTCT	0.567																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(658-660)Gat>Aat		transforming growth factor beta regulator 4							140.0	140.0	140.0					7																	45145117		2203	4300	6503	SO:0001583	missense	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45145117C>T	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.658G>A	7.37:g.45145117C>T	ENSP00000258770:p.Asp220Asn					TBRG4_ENST00000395655.4_Missense_Mutation_p.D220N|TBRG4_ENST00000494076.1_Missense_Mutation_p.D220N|TBRG4_ENST00000361278.3_Missense_Mutation_p.D220N	p.D220N	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			3	779	-			220					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	c.658G>A	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175558	0.57692	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	5.72	5.72	0.89469	.	0.052118	0.85682	D	0.000000	T	0.56572	0.1994	M	0.70275	2.135	0.52501	D	0.999959	D;D;B	0.89917	0.975;1.0;0.209	P;D;B	0.74674	0.776;0.984;0.143	T	0.49184	-0.8966	10	0.12430	T	0.62	.	16.6056	0.84827	0.0:1.0:0.0:0.0	.	231;220;220	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	N	220;220;220;220;185;166	ENSP00000258770:D220N;ENSP00000354992:D220N;ENSP00000379016:D220N;ENSP00000420597:D220N;ENSP00000418631:D185N;ENSP00000417743:D166N	ENSP00000258770:D220N	D	-	1	0	TBRG4	45111642	0.998000	0.40836	0.080000	0.20451	0.669000	0.39330	4.823000	0.62694	2.706000	0.92434	0.561000	0.74099	GAT		0.567	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		7	199	0	0	0	1	0	7	199				
SYNE2	23224	broad.mit.edu	37	14	64604694	64604694	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:64604694C>T	ENST00000344113.4	+	79	15048	c.14836C>T	c.(14836-14838)Ctg>Ttg	p.L4946L	SYNE2_ENST00000394768.2_Silent_p.L1331L|SYNE2_ENST00000554584.1_Silent_p.L4863L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Silent_p.L1331L|SYNE2_ENST00000555002.1_Silent_p.L1580L|SYNE2_ENST00000358025.3_Silent_p.L4946L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4946					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)			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)		TCTCAAGCATCTGCTCAGGTC	0.478																																						ENST00000357395.3																			0				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						c.(3991-3993)Ctg>Ttg		spectrin repeat containing, nuclear envelope 2							41.0	37.0	39.0					14																	64604694		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64604694C>T	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.14836C>T	14.37:g.64604694C>T						ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.L1331L|SYNE2_ENST00000358025.3_Silent_p.L4946L|SYNE2_ENST00000555002.1_Silent_p.L1580L|SYNE2_ENST00000554584.1_Silent_p.L4863L|SYNE2_ENST00000344113.4_Silent_p.L4946L	p.L1331L			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	80	15135	+			4946					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.3991C>T	CCDS41963.1																																																																																				0.478	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	27	0	0	0	1	0	7	27				
TMEM87A	25963	broad.mit.edu	37	15	42553446	42553446	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42553446G>A	ENST00000389834.4	-	5	671	c.407C>T	c.(406-408)aCc>aTc	p.T136I	TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000448392.1_Splice_Site_p.T75I|TMEM87A_ENST00000307216.6_Splice_Site_p.T136I	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	136						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TCCAGAAAAGGTCTATAAAAG	0.318																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.e5-1		transmembrane protein 87A							34.0	35.0	34.0					15																	42553446		2198	4297	6495	SO:0001630	splice_region_variant	25963					integral to membrane		g.chr15:42553446G>A	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.406-1C>T	15.37:g.42553446G>A						TMEM87A_ENST00000307216.6_Splice_Site_p.T136_splice|TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000448392.1_Splice_Site_p.T75_splice	p.T136_splice	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	5	671	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	136					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Splice_Site	SNP	ENST00000389834.4	37	c.405_splice	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456183	0.63401	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	4.64	3.69	0.42338	.	0.216343	0.40640	N	0.001057	T	0.13543	0.0328	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29852	-0.9998	9	0.08837	T	0.75	-1.9308	7.8156	0.29258	0.186:0.6349:0.1791:0.0	.	136;75;136	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	I	136;75;112;136	.	ENSP00000305894:T136I	T	-	2	0	TMEM87A	40340738	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.402000	0.20965	0.668000	0.31126	-0.352000	0.07741	ACC		0.318	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497	Missense_Mutation	3	39	0	0	0	1	0	3	39				
ACSM2B	348158	broad.mit.edu	37	16	20556566	20556566	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:20556566C>T	ENST00000329697.6	-	10	1362	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	ACSM2B_ENST00000565232.1_Silent_p.K398K|ACSM2B_ENST00000567001.1_Silent_p.K398K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Silent_p.K319K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	398					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGACGTTGCCCTTATCATCTA	0.502																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1192-1194)aaG>aaA		acyl-CoA synthetase medium-chain family member 2B							112.0	93.0	99.0					16																	20556566		2201	4300	6501	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556566C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1194G>A	16.37:g.20556566C>T						ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Silent_p.K398K|ACSM2B_ENST00000565232.1_Silent_p.K398K|ACSM2B_ENST00000565322.1_Silent_p.K319K	p.K398K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			10	1362	-			398					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.1194G>A	CCDS10586.1																																																																																				0.502	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		3	38	0	0	0	1	0	3	38				
PYCR2	29920	broad.mit.edu	37	1	226109251	226109251	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:226109251C>T	ENST00000343818.6	-	5	782		c.e5+1		RP4-559A3.7_ENST00000432920.2_Splice_Site|PYCR2_ENST00000478402.1_Splice_Site	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2						L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	AAGATACTGACCAGCAAAGCC	0.577																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.e5+1		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)						59.0	66.0	64.0					1																	226109251		2203	4300	6503	SO:0001630	splice_region_variant	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226109251C>T	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.633+1G>A	1.37:g.226109251C>T						PYCR2_ENST00000478402.1_Splice_Site|RP4-559A3.7_ENST00000432920.2_Splice_Site		NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN			5	782	-	Breast(184;0.197)							A8K798|Q7Z515|Q9Y5J4	Splice_Site	SNP	ENST00000343818.6	37		CCDS31043.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398500	0.62177	.	.	ENSG00000255835;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7139	0.57103	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PYCR2;RP4-559A3.7	224175874	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.764000	0.62264	2.369000	0.80426	0.462000	0.41574	.		0.577	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328	Intron	12	7	0	0	0	1	0	12	7				
YTHDC1	91746	broad.mit.edu	37	4	69203490	69203490	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69203490T>C	ENST00000344157.4	-	3	594	c.259A>G	c.(259-261)Aca>Gca	p.T87A	YTHDC1_ENST00000579690.1_Missense_Mutation_p.T87A|YTHDC1_ENST00000355665.3_Missense_Mutation_p.T87A	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	87					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TTTCCTTTTGTACTAACTATT	0.373																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(259-261)Aca>Gca		YTH domain containing 1							155.0	149.0	151.0					4																	69203490		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69203490T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.259A>G	4.37:g.69203490T>C	ENSP00000339245:p.Thr87Ala					YTHDC1_ENST00000355665.3_Missense_Mutation_p.T87A|YTHDC1_ENST00000579690.1_Missense_Mutation_p.T87A	p.T87A	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			3	594	-			87					Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.259A>G	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834550	0.50951	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.27890	1.64;1.66	5.27	2.81	0.32909	.	0.157178	0.56097	N	0.000023	T	0.36496	0.0969	L	0.27053	0.805	0.38748	D	0.954039	D;B	0.61697	0.99;0.0	D;B	0.73380	0.98;0.001	T	0.09207	-1.0685	10	0.30078	T	0.28	.	9.695	0.40152	0.0:0.1423:0.0:0.8577	.	87;87	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	A	87	ENSP00000339245:T87A;ENSP00000347888:T87A	ENSP00000339245:T87A	T	-	1	0	YTHDC1	68886085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.831000	0.69330	0.394000	0.25230	0.477000	0.44152	ACA		0.373	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		38	65	0	0	0	1	0	38	65				
CHD5	26038	broad.mit.edu	37	1	6172318	6172318	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:6172318C>T	ENST00000262450.3	-	35	5121	c.5022G>A	c.(5020-5022)gaG>gaA	p.E1674E	CHD5_ENST00000378021.1_Silent_p.E531E	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)				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)		TGGGCTCCTTCTCCTCAGCCT	0.512																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5020-5022)gaG>gaA		chromodomain helicase DNA binding protein 5							253.0	213.0	226.0					1																	6172318		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6172318C>T	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.5022G>A	1.37:g.6172318C>T						CHD5_ENST00000378021.1_Silent_p.E531E	p.E1674E	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		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)	35	5121	-	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)	1674					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.5022G>A	CCDS57.1																																																																																				0.512	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		48	26	0	0	0	1	0	48	26				
MORC3	23515	broad.mit.edu	37	21	37741786	37741786	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:37741786C>T	ENST00000400485.1	+	15	2196	c.2120C>T	c.(2119-2121)aCt>aTt	p.T707I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	707					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTCCTTGTCACTGAGGAAAAA	0.378																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(2119-2121)aCt>aTt		MORC family CW-type zinc finger 3							83.0	74.0	77.0					21																	37741786		1882	4128	6010	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741786C>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2120C>T	21.37:g.37741786C>T	ENSP00000383333:p.Thr707Ile					MORC3_ENST00000487909.1_3'UTR	p.T707I	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	2196	+			707					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.2120C>T	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	7.145	0.582594	0.13749	.	.	ENSG00000159256	ENST00000400485	T	0.14391	2.51	5.8	3.83	0.44106	.	0.307523	0.37219	N	0.002188	T	0.15046	0.0363	L	0.51422	1.61	0.09310	N	1	P	0.35656	0.514	B	0.38428	0.273	T	0.10405	-1.0631	10	0.46703	T	0.11	-6.1723	11.6431	0.51244	0.194:0.6433:0.1627:0.0	.	707	Q14149	MORC3_HUMAN	I	707	ENSP00000383333:T707I	ENSP00000383333:T707I	T	+	2	0	MORC3	36663656	0.018000	0.18449	0.920000	0.36463	0.051000	0.14879	0.594000	0.24014	2.744000	0.94065	0.655000	0.94253	ACT		0.378	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		19	51	0	0	0	1	0	19	51				
CENPE	1062	broad.mit.edu	37	4	104102614	104102614	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:104102614C>T	ENST00000265148.3	-	12	1053		c.e12-1		CENPE_ENST00000380026.3_Splice_Site|CENPE_ENST00000509120.1_5'UTR	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.?(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TACTGGCAAACTGGAAAAAAA	0.269																																						ENST00000265148.3																			1	Unknown(1)	p.?(1)	lung(1)	NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.e12-1		centromere protein E, 312kDa							46.0	46.0	46.0					4																	104102614		2200	4291	6491	SO:0001630	splice_region_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104102614C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.964-1G>A	4.37:g.104102614C>T						CENPE_ENST00000380026.3_Splice_Site|CENPE_ENST00000509120.1_5'UTR		NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	12	1053	-								A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37		CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919947	0.73098	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.311	0.90200	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPE	104322063	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.487000	0.73633	2.388000	0.81334	0.655000	0.94253	.		0.269	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Intron	16	30	0	0	0	1	0	16	30				
ACE2	59272	broad.mit.edu	37	X	15580053	15580053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:15580053G>A	ENST00000252519.3	-	18	2495	c.2393C>T	c.(2392-2394)aCt>aTt	p.T798I	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000427411.1_Missense_Mutation_p.T798I			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	798					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AACATCATCAGTGTTTTGGAA	0.318																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(2392-2394)aCt>aTt		angiotensin I converting enzyme 2	Moexipril(DB00691)						144.0	129.0	134.0					X																	15580053		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15580053G>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.2393C>T	X.37:g.15580053G>A	ENSP00000252519:p.Thr798Ile					ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Missense_Mutation_p.T798I	p.T798I	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			19	2609	-	Hepatocellular(33;0.183)		798					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.2393C>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	G	2.197	-0.383828	0.04966	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.84873	-1.91;-1.91	5.25	-5.61	0.02489	.	1.349760	0.04141	N	0.319614	T	0.67887	0.2941	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51942	-0.8641	10	0.49607	T	0.09	0.2989	1.0019	0.01479	0.199:0.1698:0.3324:0.2987	.	798	Q9BYF1	ACE2_HUMAN	I	798	ENSP00000252519:T798I;ENSP00000389326:T798I	ENSP00000252519:T798I	T	-	2	0	ACE2	15489974	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.583000	0.00904	-1.770000	0.01295	-0.200000	0.12747	ACT		0.318	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			5	91	0	0	0	1	0	5	91				
PJA1	64219	broad.mit.edu	37	X	68383072	68383072	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:68383072C>T	ENST00000361478.1	-	2	387	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	PJA1_ENST00000374571.4_Intron|PJA1_ENST00000374583.1_Missense_Mutation_p.E4K|PJA1_ENST00000374584.3_Missense_Mutation_p.E4K|PJA1_ENST00000477231.1_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	4					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTGCTAGATTCCTGACCCATC	0.512																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(10-12)Gaa>Aaa		praja ring finger 1, E3 ubiquitin protein ligase							74.0	63.0	67.0					X																	68383072		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68383072C>T	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.10G>A	X.37:g.68383072C>T	ENSP00000355014:p.Glu4Lys					PJA1_ENST00000477231.1_Intron|PJA1_ENST00000374584.3_Missense_Mutation_p.E4K|PJA1_ENST00000374571.4_Intron|PJA1_ENST00000374583.1_Missense_Mutation_p.E4K	p.E4K	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	387	-			4					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.10G>A	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979989	0.74360	.	.	ENSG00000181191	ENST00000374584;ENST00000374583;ENST00000361478	T;T;T	0.22336	1.96;2.18;2.18	3.53	3.53	0.40419	.	0.000000	0.41194	U	0.000934	T	0.35335	0.0928	L	0.43923	1.385	0.80722	D	1	P;D	0.69078	0.608;0.997	B;D	0.71656	0.109;0.974	T	0.12477	-1.0546	10	0.72032	D	0.01	.	12.4105	0.55464	0.0:1.0:0.0:0.0	.	4;4	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	K	4	ENSP00000363712:E4K;ENSP00000363711:E4K;ENSP00000355014:E4K	ENSP00000355014:E4K	E	-	1	0	PJA1	68299797	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	4.030000	0.57260	2.078000	0.62432	0.530000	0.56133	GAA		0.512	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		28	56	0	0	0	1	0	28	56				
DDX42	11325	broad.mit.edu	37	17	61899124	61899124	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61899124C>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.A519T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGCAGTACTGCCTTTTCCTCC	0.522																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1555-1557)Gca>Aca		FtsJ homolog 3 (E. coli)							277.0	214.0	236.0					17																	61899124		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899124C>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899124C>T							p.A519T	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2200	-			519					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1555G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	7.671	0.686910	0.14973	.	.	ENSG00000108592	ENST00000427159	T	0.30981	1.51	5.16	0.712	0.18167	.	0.519051	0.20861	N	0.084359	T	0.09468	0.0233	N	0.02539	-0.55	0.28192	N	0.927731	B	0.06786	0.001	B	0.04013	0.001	T	0.21075	-1.0256	10	0.23891	T	0.37	-1.9359	4.132	0.10154	0.1527:0.4851:0.0:0.3622	.	519	Q8IY81	RRMJ3_HUMAN	T	519	ENSP00000396673:A519T	ENSP00000396673:A519T	A	-	1	0	FTSJ3	59252856	0.761000	0.28439	0.712000	0.30502	0.138000	0.21146	0.627000	0.24506	0.293000	0.22520	0.557000	0.71058	GCA		0.522	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		5	282	0	0	0	1	0	5	282				
SCN1A	6323	broad.mit.edu	37	2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	rs146374754		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166872165C>T	ENST00000303395.4	-	17	3501	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|SCN1A_ENST00000423058.2_Missense_Mutation_p.V1168I|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1168					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTTCCACTACGGGCTGTTCT	0.413																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(3502-3504)Gta>Ata		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	145.0	135.0	138.0		3502,3418,3502,3469	3.6	0.8	2	dbSNP_134	138	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	29,29,29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	1168/2010,1140/1982,1168/2010,1157/1999	166872165	1,13003	2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166872165C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3502G>A	2.37:g.166872165C>T	ENSP00000303540:p.Val1168Ile					SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1168I|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.V1168I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			17	3519	-			1168					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3502G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.290024	0.40494	0.0	1.16E-4	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.42	3.63	0.41609	Sodium ion transport-associated (1);	0.251153	0.27686	N	0.018261	T	0.72645	0.3486	L	0.38692	1.165	0.23293	N	0.997963	P;B;P	0.36712	0.566;0.003;0.484	B;B;B	0.37267	0.124;0.003;0.245	T	0.58567	-0.7614	10	0.18710	T	0.47	.	9.3209	0.37964	0.0:0.7803:0.0:0.2197	.	1157;1140;1168	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	1168;1168;1157;1140	ENSP00000407030:V1168I;ENSP00000303540:V1168I;ENSP00000364554:V1157I;ENSP00000386312:V1140I	ENSP00000303540:V1168I	V	-	1	0	SCN1A	166580411	1.000000	0.71417	0.812000	0.32479	0.893000	0.52053	2.644000	0.46613	0.668000	0.31126	-0.373000	0.07131	GTA		0.413	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		36	70	0	0	0	1	0	36	70				
BNIP3P1	319138	broad.mit.edu	37	14	28734348	28734348	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:28734348G>A	ENST00000550043.1	+	0	753									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		TTTTGATGAAGAACTGGAGTC	0.483																																						ENST00000550043.1																			0																																																			0							g.chr14:28734348G>A			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734348G>A														0	753	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.483	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			5	46	0	0	0	1	0	5	46				
ZNF662	389114	broad.mit.edu	37	3	42956622	42956622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:42956622G>A	ENST00000541208.1	+	5	1426	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.V353I|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.V379I			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCACCAGAGGGTCCACACTGG	0.478																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1057-1059)Gtc>Atc		zinc finger protein 662							85.0	83.0	83.0					3																	42956622		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956622G>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1057G>A	3.37:g.42956622G>A	ENSP00000446208:p.Val353Ile					ZNF662_ENST00000440367.2_Missense_Mutation_p.V353I|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.V379I	p.V353I			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1426	+			353					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1057G>A	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	2.064	-0.414691	0.04766	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.08634	3.07;3.07;3.07	3.27	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	N	0.01751	-0.74	0.20563	N	0.999882	B;B	0.16603	0.015;0.018	B;B	0.20184	0.028;0.028	T	0.45527	-0.9255	9	0.02654	T	1	.	6.9661	0.24623	0.2475:0.0:0.7524:0.0	.	379;353	F8W7S8;Q6ZS27	.;ZN662_HUMAN	I	353;379;353	ENSP00000405047:V353I;ENSP00000329264:V379I;ENSP00000446208:V353I	ENSP00000329264:V379I	V	+	1	0	ZNF662	42931626	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.064000	0.14437	0.725000	0.32318	0.650000	0.86243	GTC		0.478	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		33	32	0	0	0	1	0	33	32				
PHF12	57649	broad.mit.edu	37	17	27233406	27233406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:27233406C>T	ENST00000332830.4	-	15	3620	c.2810G>A	c.(2809-2811)aGt>aAt	p.S937N	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCGGCCCCACTGCCCCCAAT	0.607																																						ENST00000332830.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2809-2811)aGt>aAt		PHD finger protein 12							48.0	51.0	50.0					17																	27233406		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233406C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2810G>A	17.37:g.27233406C>T	ENSP00000329933:p.Ser937Asn					PHF12_ENST00000577226.1_3'UTR	p.S937N	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		15	3620	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		937						Missense_Mutation	SNP	ENST00000332830.4	37	c.2810G>A	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	c	18.51	3.638975	0.67130	.	.	ENSG00000109118	ENST00000332830	D	0.95272	-3.66	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	L	0.58101	1.795	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.65140	0.932;0.932	D	0.96162	0.9116	10	0.59425	D	0.04	-2.5512	16.1951	0.82021	0.0:1.0:0.0:0.0	.	919;937	B4DFE2;Q96QT6	.;PHF12_HUMAN	N	937	ENSP00000329933:S937N	ENSP00000329933:S937N	S	-	2	0	PHF12	24257532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.891000	0.75639	2.486000	0.83907	0.651000	0.88453	AGT		0.607	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		15	35	0	0	0	1	0	15	35				
MAST4	375449	broad.mit.edu	37	5	66460731	66460731	+	Silent	SNP	G	G	A	rs369576644		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:66460731G>A	ENST00000403625.2	+	29	6019	c.5724G>A	c.(5722-5724)agG>agA	p.R1908R	MAST4_ENST00000403666.1_Silent_p.R1719R|MAST4_ENST00000261569.7_Silent_p.R1714R|MAST4_ENST00000404260.3_Silent_p.R1911R|MAST4_ENST00000405643.1_Silent_p.R1729R	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1911						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			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)		CTACTGCCAGGAGCCCTGGAA	0.587																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(5731-5733)agG>agA		microtubule associated serine/threonine kinase family member 4		G	,	0,4002		0,0,2001	48.0	54.0	52.0		5724,5157	-0.5	0.0	5		52	1,8345		0,1,4172	no	coding-synonymous,coding-synonymous	MAST4	NM_001164664.1,NM_015183.2	,	0,1,6173	AA,AG,GG		0.012,0.0,0.0081	,	1908/2624,1719/2435	66460731	1,12347	2001	4173	6174	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460731G>A	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.5724G>A	5.37:g.66460731G>A						MAST4_ENST00000403666.1_Silent_p.R1719R|MAST4_ENST00000403625.2_Silent_p.R1908R|MAST4_ENST00000261569.7_Silent_p.R1714R|MAST4_ENST00000405643.1_Silent_p.R1729R	p.R1911R			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6041	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1911					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.5733G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	5.577	0.291243	0.10567	0.0	1.2E-4	ENSG00000069020	ENST00000443808	.	.	.	4.78	-0.484	0.12071	.	.	.	.	.	T	0.21841	0.0526	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25433	-1.0132	4	.	.	.	-16.1432	3.5046	0.07685	0.5233:0.0:0.2841:0.1926	.	.	.	.	K	965	.	.	E	+	1	0	MAST4	66496487	0.372000	0.25064	0.012000	0.15200	0.182000	0.23217	0.927000	0.28818	-0.007000	0.14345	0.467000	0.42956	GAG		0.587	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			5	37	0	0	0	1	0	5	37				
FUBP3	8939	broad.mit.edu	37	9	133511394	133511394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:133511394G>A	ENST00000319725.9	+	18	1666	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	531					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGGTCACGCCGCCAGCGCTGC	0.607																																						ENST00000319725.9																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21						c.(1591-1593)Gcc>Acc		far upstream element (FUSE) binding protein 3							69.0	76.0	73.0					9																	133511394		2114	4231	6345	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133511394G>A	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1591G>A	9.37:g.133511394G>A	ENSP00000318177:p.Ala531Thr						p.A531T	NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	18	1666	+			531					A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.1591G>A	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	G	9.904	1.207543	0.22205	.	.	ENSG00000107164	ENST00000319725	T	0.50001	0.76	4.98	0.855	0.19013	.	0.456114	0.23298	N	0.049712	T	0.24661	0.0598	N	0.16790	0.44	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.04360	-1.0957	10	0.21014	T	0.42	-7.5577	5.8275	0.18562	0.2473:0.1392:0.6135:0.0	.	531;531	A3KFK8;Q96I24	.;FUBP3_HUMAN	T	531	ENSP00000318177:A531T	ENSP00000318177:A531T	A	+	1	0	FUBP3	132501215	1.000000	0.71417	0.086000	0.20670	0.081000	0.17604	2.983000	0.49345	0.116000	0.18110	0.655000	0.94253	GCC		0.607	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			25	46	0	0	0	1	0	25	46				
UBA3	9039	broad.mit.edu	37	3	69126999	69126999	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:69126999G>A	ENST00000361055.4	-	3	187	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	UBA3_ENST00000349511.4_Missense_Mutation_p.L31F|UBA3_ENST00000540295.1_5'UTR|UBA3_ENST00000415609.2_Missense_Mutation_p.L31F	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	45					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GATCGCTCGAGGAACTTCTTT	0.448																																						ENST00000361055.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(133-135)Ctc>Ttc		ubiquitin-like modifier activating enzyme 3							214.0	215.0	214.0					3																	69126999		2203	4300	6503	SO:0001583	missense	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69126999G>A	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.133C>T	3.37:g.69126999G>A	ENSP00000354340:p.Leu45Phe					UBA3_ENST00000349511.4_Missense_Mutation_p.L31F|UBA3_ENST00000415609.2_Missense_Mutation_p.L31F|UBA3_ENST00000540295.1_5'UTR	p.L45F	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	3	187	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	45					A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	c.133C>T	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195265	0.78902	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511	D;T;T	0.83163	-1.69;0.15;-0.28	5.21	3.35	0.38373	.	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75020	0.985;0.954	D	0.87880	0.2677	10	0.87932	D	0	-5.8088	9.8928	0.41300	0.0723:0.0:0.7891:0.1386	.	31;45	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	F	31;45;31	ENSP00000400294:L31F;ENSP00000354340:L45F;ENSP00000340041:L31F	ENSP00000340041:L31F	L	-	1	0	UBA3	69209689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.184000	0.77705	1.200000	0.43188	0.655000	0.94253	CTC		0.448	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		112	128	0	0	0	1	0	112	128				
HOXA6	3203	broad.mit.edu	37	7	27185521	27185521	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:27185521C>T	ENST00000222728.3	-	2	482	c.458G>A	c.(457-459)aGc>aAc	p.S153N	HOXA6_ENST00000521478.1_5'UTR|HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	153					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)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GCGCCCATGGCTCCCATACAC	0.662																																						ENST00000222728.3																			0				central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						c.(457-459)aGc>aAc		homeobox A6							72.0	66.0	68.0					7																	27185521		2203	4300	6503	SO:0001583	missense	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27185521C>T		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.458G>A	7.37:g.27185521C>T	ENSP00000222728:p.Ser153Asn					HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA	p.S153N	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN			2	482	-			153					A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	c.458G>A	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680066	0.47886	.	.	ENSG00000106006	ENST00000222728	D	0.95788	-3.81	5.6	4.7	0.59300	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.204755	0.50627	D	0.000107	D	0.89567	0.6752	N	0.16790	0.44	0.31673	N	0.644166	B	0.06786	0.001	B	0.04013	0.001	D	0.85726	0.1328	10	0.29301	T	0.29	.	12.6571	0.56793	0.0:0.6121:0.3879:0.0	.	153	P31267	HXA6_HUMAN	N	153	ENSP00000222728:S153N	ENSP00000222728:S153N	S	-	2	0	HOXA6	27152046	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	1.935000	0.40173	2.627000	0.88993	0.561000	0.74099	AGC		0.662	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			8	134	0	0	0	1	0	8	134				
UBAP2	55833	broad.mit.edu	37	9	33941798	33941798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:33941798G>A	ENST00000379238.1	-	16	1895	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	UBAP2_ENST00000449054.1_Missense_Mutation_p.S593F|UBAP2_ENST00000539807.1_Missense_Mutation_p.S348F|UBAP2_ENST00000360802.1_Missense_Mutation_p.S593F|UBAP2_ENST00000379239.4_Missense_Mutation_p.S326F|UBAP2_ENST00000418786.2_Missense_Mutation_p.S540F|UBAP2_ENST00000379225.1_Missense_Mutation_p.S226F					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGTAATGACGGAAGTTGTATA	0.393																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(1777-1779)tCc>tTc		ubiquitin associated protein 2							166.0	156.0	159.0					9																	33941798		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33941798G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1778C>T	9.37:g.33941798G>A	ENSP00000368540:p.Ser593Phe					UBAP2_ENST00000449054.1_Missense_Mutation_p.S593F|UBAP2_ENST00000539807.1_Missense_Mutation_p.S348F|UBAP2_ENST00000379239.4_Missense_Mutation_p.S326F|UBAP2_ENST00000418786.2_Missense_Mutation_p.S540F|UBAP2_ENST00000360802.1_Missense_Mutation_p.S593F|UBAP2_ENST00000379225.1_Missense_Mutation_p.S226F	p.S593F			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	16	1895	-			593						Missense_Mutation	SNP	ENST00000379238.1	37	c.1778C>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432155	0.83776	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.27557	2.5;2.5;2.5;2.26;2.3;1.93;1.66	6.03	6.03	0.97812	.	0.325526	0.33144	N	0.005233	T	0.57755	0.2075	M	0.69823	2.125	0.58432	D	0.999997	D;D;P;P;P;D;D;D	0.76494	0.986;0.999;0.925;0.925;0.925;0.996;0.998;0.998	P;D;P;P;P;P;D;D	0.70227	0.748;0.968;0.667;0.667;0.667;0.823;0.929;0.931	T	0.53690	-0.8403	10	0.52906	T	0.07	-3.1271	20.5568	0.99304	0.0:0.0:1.0:0.0	.	540;518;348;326;502;226;518;593	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	F	593;593;593;502;326;348;540;226	ENSP00000368540:S593F;ENSP00000416932:S593F;ENSP00000354039:S593F;ENSP00000368541:S326F;ENSP00000439329:S348F;ENSP00000404436:S540F;ENSP00000368527:S226F	ENSP00000354039:S593F	S	-	2	0	UBAP2	33931798	1.000000	0.71417	0.501000	0.27601	0.927000	0.56198	7.126000	0.77201	2.861000	0.98227	0.655000	0.94253	TCC		0.393	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		28	66	0	0	0	1	0	28	66				
PTPRJ	5795	broad.mit.edu	37	11	48152121	48152121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:48152121G>A	ENST00000418331.2	+	8	1820	c.1468G>A	c.(1468-1470)Gga>Aga	p.G490R	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G490R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	490	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CACACAGGAGGGAGCTGGCAA	0.463																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1468-1470)Gga>Aga		protein tyrosine phosphatase, receptor type, J							100.0	91.0	94.0					11																	48152121		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48152121G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1468G>A	11.37:g.48152121G>A	ENSP00000400010:p.Gly490Arg					PTPRJ_ENST00000440289.2_Missense_Mutation_p.G490R	p.G490R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			8	1820	+			490			Fibronectin type-III 5.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.1468G>A	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210025	0.39003	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.56444	0.46;0.46	5.61	1.12	0.20585	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47116	0.1428	L	0.39898	1.24	0.09310	N	1	P;D	0.52996	0.783;0.957	P;P	0.54629	0.646;0.757	T	0.32508	-0.9904	9	0.14656	T	0.56	.	3.5506	0.07844	0.341:0.1921:0.467:0.0	.	490;490	Q12913;Q6P4H4	PTPRJ_HUMAN;.	R	490	ENSP00000400010:G490R;ENSP00000409733:G490R	ENSP00000400010:G490R	G	+	1	0	PTPRJ	48108697	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.213000	0.17521	0.343000	0.23821	0.644000	0.83932	GGA		0.463	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			28	46	0	0	0	1	0	28	46				
NPAS3	64067	broad.mit.edu	37	14	34243649	34243649	+	Missense_Mutation	SNP	C	C	T	rs145228000		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:34243649C>T	ENST00000356141.4	+	8	959	c.959C>T	c.(958-960)cCc>cTc	p.P320L	NPAS3_ENST00000357798.5_Missense_Mutation_p.P307L|NPAS3_ENST00000548645.1_Missense_Mutation_p.P290L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P325L|NPAS3_ENST00000346562.2_Missense_Mutation_p.P288L			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	320	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCCTTGCCTCCCCCTACGATC	0.493																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(862-864)cCc>cTc		neuronal PAS domain protein 3		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	180.0	148.0	159.0		959,869,863,920	5.8	1.0	14	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	NPAS3	NM_001164749.1,NM_001165893.1,NM_022123.2,NM_173159.2	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	320/934,290/904,288/902,307/921	34243649	1,13005	2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34243649C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.959C>T	14.37:g.34243649C>T	ENSP00000348460:p.Pro320Leu					NPAS3_ENST00000356141.4_Missense_Mutation_p.P320L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P325L|NPAS3_ENST00000357798.5_Missense_Mutation_p.P307L|NPAS3_ENST00000548645.1_Missense_Mutation_p.P290L	p.P288L	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	7	937	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		320					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.863C>T	CCDS53891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.549630|5.549630	0.96501|0.96501	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151322|ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798|ENST00000552874	T;T;T;T;T;T|T	0.24723|0.27720	1.84;1.84;1.84;1.84;1.84;1.84|1.65	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.058058|0.058058	0.64402|0.64402	D|N	0.000001|0.000001	T|T	0.53883|0.53883	0.1824|0.1824	M|M	0.77616|0.77616	2.38|2.38	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|.	0.80764|.	0.994;0.987;0.994;0.99|.	T|T	0.41360|0.41360	-0.9513|-0.9513	10|8	0.87932|0.26408	D|T	0|0.33	.|.	20.0411|20.0411	0.97590|0.97590	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	290;320;288;307|.	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3|.	.;NPAS3_HUMAN;.;.|.	L|S	297;325;288;290;320;307|67	ENSP00000448373:P297L;ENSP00000450392:P325L;ENSP00000319610:P288L;ENSP00000448916:P290L;ENSP00000348460:P320L;ENSP00000350446:P307L|ENSP00000448450:P67S	ENSP00000319610:P288L|ENSP00000448450:P67S	P|P	+|+	2|1	0|0	NPAS3|NPAS3	33313400|33313400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.774000|7.774000	0.85478|0.85478	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.493	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			9	163	0	0	0	1	0	9	163				
FTO	79068	broad.mit.edu	37	16	53922781	53922781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:53922781G>A	ENST00000471389.1	+	7	1379	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	FTO_ENST00000394647.3_Missense_Mutation_p.G90D|FTO_ENST00000460382.1_5'UTR|FTO_ENST00000431610.2_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	386					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGTTTCAAGGCAATCGATAC	0.483																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1156-1158)gGc>gAc		fat mass and obesity associated							239.0	219.0	226.0					16																	53922781		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53922781G>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1157G>A	16.37:g.53922781G>A	ENSP00000418823:p.Gly386Asp					FTO_ENST00000394647.3_Missense_Mutation_p.G90D|FTO_ENST00000431610.2_5'UTR|FTO_ENST00000460382.1_5'UTR	p.G386D	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			7	1379	+			386					A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.1157G>A	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747988	0.89663	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	T;T	0.72942	-0.7;-0.7	5.84	4.89	0.63831	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.096962	0.64402	D	0.000001	D	0.83848	0.5343	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86213	0.1626	10	0.87932	D	0	3.697	14.7006	0.69154	0.0691:0.0:0.9309:0.0	.	386	Q9C0B1	FTO_HUMAN	D	386;90	ENSP00000418823:G386D;ENSP00000378142:G90D	ENSP00000378142:G90D	G	+	2	0	FTO	52480282	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.562000	0.82300	1.478000	0.48253	0.650000	0.86243	GGC		0.483	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		10	72	0	0	0	1	0	10	72				
PDCD6IP	10015	broad.mit.edu	37	3	33887073	33887073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:33887073G>A	ENST00000307296.3	+	12	2011	c.1634G>A	c.(1633-1635)gGc>gAc	p.G545D	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.G550D			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	545	Interaction with EIAV p9.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						ACCATGCAGGGCAGTGAGGTA	0.433																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(1633-1635)gGc>gAc		programmed cell death 6 interacting protein							93.0	78.0	83.0					3																	33887073		2203	4300	6503	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33887073G>A	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1634G>A	3.37:g.33887073G>A	ENSP00000307387:p.Gly545Asp					PDCD6IP_ENST00000457054.2_Missense_Mutation_p.G550D	p.G545D			Q8WUM4	PDC6I_HUMAN			12	2011	+			545			Interaction with EIAV p9.|Self-association.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.1634G>A	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837328	0.50951	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.27557	1.66;1.66	5.35	5.35	0.76521	.	0.156389	0.56097	D	0.000022	T	0.31918	0.0812	L	0.54323	1.7	0.80722	D	1	B;B;B	0.27656	0.043;0.154;0.184	B;B;B	0.29598	0.028;0.028;0.104	T	0.11591	-1.0581	10	0.11485	T	0.65	-10.7088	19.0669	0.93114	0.0:0.0:1.0:0.0	.	326;550;545	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	D	545;550	ENSP00000307387:G545D;ENSP00000411825:G550D	ENSP00000307387:G545D	G	+	2	0	PDCD6IP	33862077	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.750000	0.98875	2.511000	0.84671	0.557000	0.71058	GGC		0.433	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			7	65	0	0	0	1	0	7	65				
NPLOC4	55666	broad.mit.edu	37	17	79556127	79556127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:79556127C>T	ENST00000331134.6	-	12	1339	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	NPLOC4_ENST00000539314.1_Missense_Mutation_p.G214D|NPLOC4_ENST00000374747.5_Missense_Mutation_p.G375D	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	375					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTTGTCAGGACCACCTGCAAG	0.473																																						ENST00000374747.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1123-1125)gGt>gAt		nuclear protein localization 4 homolog (S. cerevisiae)							61.0	62.0	62.0					17																	79556127		2001	4172	6173	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79556127C>T	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1124G>A	17.37:g.79556127C>T	ENSP00000331487:p.Gly375Asp					NPLOC4_ENST00000331134.6_Missense_Mutation_p.G375D|NPLOC4_ENST00000539314.1_Missense_Mutation_p.G214D	p.G375D			Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		12	1253	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		375					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1124G>A	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	9.674	1.147464	0.21288	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.26	5.26	0.73747	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	N	0.01202	-0.96	0.80722	D	1	B;B;B	0.15473	0.002;0.013;0.008	B;B;B	0.20384	0.006;0.029;0.027	T	0.35226	-0.9797	9	0.02654	T	1	-19.9676	19.2352	0.93856	0.0:1.0:0.0:0.0	.	214;375;375	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	D	375;374;214	.	ENSP00000331487:G375D	G	-	2	0	NPLOC4	77166564	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.697000	0.84279	2.615000	0.88500	0.563000	0.77884	GGT		0.473	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			13	22	0	0	0	1	0	13	22				
ACTN1	87	broad.mit.edu	37	14	69346812	69346812	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:69346812C>T	ENST00000193403.6	-	18	2530	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D	ACTN1_ENST00000376839.3_Missense_Mutation_p.G651D|ACTN1_ENST00000438964.2_Missense_Mutation_p.G716D|ACTN1_ENST00000394419.4_Missense_Mutation_p.G716D|ACTN1_ENST00000538545.2_Missense_Mutation_p.G716D	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	716	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)			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)		CTGCTCCCAGCCCACACGGAT	0.627																																						ENST00000193403.6																			0				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						c.(2146-2148)gGc>gAc		actinin, alpha 1							89.0	80.0	83.0					14																	69346812		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69346812C>T	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.2147G>A	14.37:g.69346812C>T	ENSP00000193403:p.Gly716Asp					ACTN1_ENST00000376839.3_Missense_Mutation_p.G651D|ACTN1_ENST00000538545.2_Missense_Mutation_p.G716D|ACTN1_ENST00000438964.2_Missense_Mutation_p.G716D|ACTN1_ENST00000394419.4_Missense_Mutation_p.G716D	p.G716D	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	18	2530	-			716			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.2147G>A	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.129115|4.129115	0.77549|0.77549	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000555075|ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964	.|T;T;T;T;T;T	.|0.50548	.|0.74;0.74;0.74;0.74;0.74;0.74	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72843|0.72843	0.3511|0.3511	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	.|P;P;D;P;D	.|0.61697	.|0.894;0.918;0.99;0.932;0.99	.|D;P;P;P;D	.|0.71414	.|0.922;0.778;0.883;0.813;0.973	T|T	0.77180|0.77180	-0.2682|-0.2682	5|10	.|0.72032	.|D	.|0.01	.|.	18.8759|18.8759	0.92334|0.92334	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|347;716;716;716;363	.|B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0	.|.;.;.;ACTN1_HUMAN;.	T|D	102|716;716;716;651;716;245	.|ENSP00000193403:G716D;ENSP00000377941:G716D;ENSP00000414272:G716D;ENSP00000366035:G651D;ENSP00000439828:G716D;ENSP00000444422:G245D	.|ENSP00000193403:G716D	A|G	-|-	1|2	0|0	ACTN1|ACTN1	68416565|68416565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.651000|7.651000	0.83577|0.83577	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.627	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		12	65	0	0	0	1	0	12	65				
ZNF628	89887	broad.mit.edu	37	19	55992959	55992959	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55992959C>T	ENST00000598519.1	+	3	952	c.399C>T	c.(397-399)tcC>tcT	p.S133S	ZNF628_ENST00000391718.2_Silent_p.S129S			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	133					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGTGGTCGTCCCACTACCAGT	0.662																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(385-387)tcC>tcT		zinc finger protein 628							40.0	40.0	40.0					19																	55992959		2203	4299	6502	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55992959C>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.399C>T	19.37:g.55992959C>T						ZNF628_ENST00000598519.1_Silent_p.S133S	p.S129S			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	952	+	Breast(117;0.155)		129					Q86X34	Silent	SNP	ENST00000598519.1	37	c.387C>T	CCDS33116.3																																																																																				0.662	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		10	28	0	0	0	1	0	10	28				
NSUN4	387338	broad.mit.edu	37	1	46818562	46818562	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:46818562C>T	ENST00000474844.1	+	4	1265	c.615C>T	c.(613-615)ctC>ctT	p.L205L	NSUN4_ENST00000537428.1_Silent_p.L156L|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Silent_p.L156L	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	205					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CCAATGATCTCTCCCCGTCCC	0.483																																						ENST00000474844.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(613-615)ctC>ctT		NOP2/Sun domain family, member 4							147.0	134.0	138.0					1																	46818562		2203	4300	6503	SO:0001819	synonymous_variant	387338						methyltransferase activity	g.chr1:46818562C>T	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.615C>T	1.37:g.46818562C>T						NSUN4_ENST00000537428.1_Silent_p.L156L|NSUN4_ENST00000536062.1_Silent_p.L156L|NSUN4_ENST00000498008.1_3'UTR	p.L205L	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN			4	1265	+	Acute lymphoblastic leukemia(166;0.155)		205					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Silent	SNP	ENST00000474844.1	37	c.615C>T	CCDS534.1																																																																																				0.483	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		38	70	0	0	0	1	0	38	70				
IL19	29949	broad.mit.edu	37	1	207013341	207013341	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207013341G>A	ENST00000270218.6	+	5	1296	c.357G>A	c.(355-357)cgG>cgA	p.R119R	IL19_ENST00000340758.2_Silent_p.R157R	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	119					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			AAACTCTGCGGCAATGTGTGA	0.527																																						ENST00000270218.6																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(355-357)cgG>cgA		interleukin 19							119.0	111.0	114.0					1																	207013341		2203	4300	6503	SO:0001819	synonymous_variant	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207013341G>A	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.357G>A	1.37:g.207013341G>A						IL19_ENST00000340758.2_Silent_p.R157R	p.R119R	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		5	1296	+			119					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	ENST00000270218.6	37	c.357G>A	CCDS1469.1																																																																																				0.527	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		19	98	0	0	0	1	0	19	98				
KRTAP9-2	83899	broad.mit.edu	37	17	39383295	39383295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39383295G>A	ENST00000377721.3	+	1	396	c.389G>A	c.(388-390)gGt>gAt	p.G130D	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.G114D	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	130	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCTGCCTGGTTGCCTAAAC	0.627																																						ENST00000377721.3																			0				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(388-390)gGt>gAt		keratin associated protein 9-2							124.0	121.0	122.0					17																	39383295		2203	4299	6502	SO:0001583	missense	83899					keratin filament	protein binding	g.chr17:39383295G>A	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.389G>A	17.37:g.39383295G>A	ENSP00000366950:p.Gly130Asp					KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.G114D	p.G130D	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	396	+		Breast(137;0.000496)	130			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	c.389G>A	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	12.76	2.034646	0.35893	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01527	5.43;4.8	1.91	1.91	0.25777	.	.	.	.	.	T	0.01765	0.0056	L	0.34521	1.04	0.09310	N	1	P	0.39282	0.666	B	0.33890	0.172	T	0.49881	-0.8892	9	0.72032	D	0.01	.	9.9188	0.41450	0.0:0.0:1.0:0.0	.	130	Q9BYQ4	KRA92_HUMAN	D	130;114	ENSP00000366950:G130D;ENSP00000398325:G114D	ENSP00000366950:G130D	G	+	2	0	KRTAP9-2	36636821	0.942000	0.31987	0.002000	0.10522	0.746000	0.42486	0.919000	0.28692	1.398000	0.46701	0.552000	0.68991	GGT		0.627	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			76	115	0	0	0	1	0	76	115				
EPHB4	2050	broad.mit.edu	37	7	100403182	100403182	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100403182G>A	ENST00000358173.3	-	15	3087	c.2619C>T	c.(2617-2619)gcC>gcT	p.A873A	EPHB4_ENST00000360620.3_Silent_p.A873A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	873	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)			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)					TCTTGTCCAGGGCGCTGACCA	0.662																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2617-2619)gcC>gcT		EPH receptor B4							56.0	65.0	62.0					7																	100403182		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100403182G>A	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.2619C>T	7.37:g.100403182G>A						EPHB4_ENST00000360620.3_Silent_p.A873A	p.A873A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			15	3087	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		873			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.2619C>T	CCDS5706.1																																																																																				0.662	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		14	143	0	0	0	1	0	14	143				
HIF3A	64344	broad.mit.edu	37	19	46834415	46834415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46834415C>T	ENST00000377670.4	+	13	1746	c.1715C>T	c.(1714-1716)aCc>aTc	p.T572I	HIF3A_ENST00000472815.1_Intron|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.T503I|HIF3A_ENST00000420102.2_Missense_Mutation_p.T521I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T503I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T570I|HIF3A_ENST00000339613.2_Missense_Mutation_p.T516I	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	572	ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCCTCCAGGACCCTGGCCCAG	0.557																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(1546-1548)aCc>aTc		hypoxia inducible factor 3, alpha subunit							69.0	58.0	62.0					19																	46834415		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46834415C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1715C>T	19.37:g.46834415C>T	ENSP00000366898:p.Thr572Ile					AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.T521I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T503I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T570I|HIF3A_ENST00000377670.4_Missense_Mutation_p.T572I|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Missense_Mutation_p.T503I	p.T516I			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	13	1802	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	572			ODD.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1547C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174139	0.38413	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.66099	0.55;-0.18;0.44;0.55;-0.19	4.43	3.31	0.37934	.	2.440530	0.01824	N	0.034255	T	0.51381	0.1671	N	0.19112	0.55	0.24021	N	0.996146	B;B;B;B;B;B	0.32160	0.358;0.037;0.062;0.089;0.037;0.089	B;B;B;B;B;B	0.30572	0.117;0.015;0.034;0.016;0.011;0.016	T	0.50127	-0.8864	10	0.72032	D	0.01	.	9.811	0.40824	0.0:0.7902:0.2098:0.0	.	521;503;570;516;572;572	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	I	572;572;503;516;516;570;521	ENSP00000366898:T572I;ENSP00000244303:T503I;ENSP00000341877:T516I;ENSP00000300862:T570I;ENSP00000407771:T521I	ENSP00000244302:T572I	T	+	2	0	HIF3A	51526255	0.902000	0.30710	0.946000	0.38457	0.856000	0.48823	2.349000	0.44054	2.194000	0.70268	0.650000	0.86243	ACC		0.557	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			16	24	0	0	0	1	0	16	24				
MINK1	50488	broad.mit.edu	37	17	4788789	4788789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4788789G>A	ENST00000355280.6	+	7	716	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	MINK1_ENST00000453408.3_Missense_Mutation_p.V174M|MINK1_ENST00000347992.7_Missense_Mutation_p.V174M|RN7SL784P_ENST00000577319.1_RNA	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGATTTTGGGGTGAGTGCTCA	0.587																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(520-522)Gtg>Atg		misshapen-like kinase 1							93.0	101.0	98.0					17																	4788789		2148	4244	6392	SO:0001583	missense	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4788789G>A	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.520G>A	17.37:g.4788789G>A	ENSP00000347427:p.Val174Met					MINK1_ENST00000347992.7_Missense_Mutation_p.V174M|MINK1_ENST00000453408.3_Missense_Mutation_p.V174M	p.V174M	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			7	716	+			174			Protein kinase.			Missense_Mutation	SNP	ENST00000355280.6	37	c.520G>A	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010614	0.93346	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.25250	1.81;1.81;1.81	5.54	5.54	0.83059	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	0.50497	0.1619	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.60160	0.984;0.984;0.987;0.984	D;D;D;D	0.73380	0.965;0.965;0.98;0.965	T	0.47407	-0.9120	10	0.87932	D	0	.	17.0271	0.86450	0.0:0.0:1.0:0.0	.	174;174;174;174	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	M	174	ENSP00000347427:V174M;ENSP00000406487:V174M;ENSP00000269296:V174M	ENSP00000269296:V174M	V	+	1	0	MINK1	4729572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.884000	0.98904	0.655000	0.94253	GTG		0.587	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		23	56	0	0	0	1	0	23	56				
KRT37	8688	broad.mit.edu	37	17	39579107	39579107	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39579107G>A	ENST00000225550.3	-	3	654	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	219	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCTTGGCCAGGGTCGCGTCA	0.652																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(655-657)Ctg>Ttg		keratin 37							76.0	66.0	69.0					17																	39579107		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39579107G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.655C>T	17.37:g.39579107G>A						AC003958.2_ENST00000432258.1_RNA	p.L219L	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			3	654	-		Breast(137;0.000496)	219			Coil 1B.|Rod.			Silent	SNP	ENST00000225550.3	37	c.655C>T	CCDS32653.1																																																																																				0.652	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		9	59	0	0	0	1	0	9	59				
UGT2B7	7364	broad.mit.edu	37	4	69964346	69964346	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69964346C>T	ENST00000508661.1	+	2	837	c.810C>T	c.(808-810)ctC>ctT	p.L270L	UGT2B7_ENST00000305231.7_Silent_p.L270L|UGT2B7_ENST00000509763.1_3'UTR			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	270					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CATATCCACTCTTACCAAATG	0.408																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(808-810)ctC>ctT		UDP glucuronosyltransferase 2 family, polypeptide B7							163.0	167.0	166.0					4																	69964346		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69964346C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.810C>T	4.37:g.69964346C>T						UGT2B7_ENST00000508661.1_Silent_p.L270L|UGT2B7_ENST00000509763.1_3'UTR	p.L270L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			2	856	+			270					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.810C>T																																																																																					0.408	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		42	169	0	0	0	1	0	42	169				
ANKRD42	338699	broad.mit.edu	37	11	82959022	82959022	+	Silent	SNP	C	C	T	rs556304932	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:82959022C>T	ENST00000393392.2	+	10	1311	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	ANKRD42_ENST00000260047.6_Nonsense_Mutation_p.R453*|ANKRD42_ENST00000533342.1_Nonsense_Mutation_p.R454*|ANKRD42_ENST00000528190.1_3'UTR|ANKRD42_ENST00000531895.1_Nonsense_Mutation_p.R454*	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	383					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAGTATGAACGACTACGTAG	0.343													C|||	3	0.000599042	0.0	0.0043	5008	,	,		16797	0.0		0.0	False		,,,				2504	0.0					ENST00000260047.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1357-1359)Cga>Tga		ankyrin repeat domain 42																																				SO:0001819	synonymous_variant	338699							g.chr11:82959022C>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.1149C>T	11.37:g.82959022C>T						ANKRD42_ENST00000531895.1_Nonsense_Mutation_p.R454*|ANKRD42_ENST00000393392.2_Silent_p.N383N|ANKRD42_ENST00000528190.1_3'UTR|ANKRD42_ENST00000533342.1_Nonsense_Mutation_p.R454*	p.R453*			Q8N9B4	ANR42_HUMAN			11	2152	+			0					Q49A49	Nonsense_Mutation	SNP	ENST00000393392.2	37	c.1357C>T	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473120	0.84640	.	.	ENSG00000137494	ENST00000260047;ENST00000531895;ENST00000533342;ENST00000342658;ENST00000531815	.	.	.	5.59	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.6826	13.685	0.62511	0.1556:0.8444:0.0:0.0	.	.	.	.	X	453;454;454;194;78	.	.	R	+	1	2	ANKRD42	82636670	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.289000	0.51747	1.426000	0.47256	0.655000	0.94253	CGA		0.343	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		4	21	0	0	0	1	0	4	21				
ZNF831	128611	broad.mit.edu	37	20	57768786	57768786	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57768786C>T	ENST00000371030.2	+	1	2712	c.2712C>T	c.(2710-2712)acC>acT	p.T904T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	904							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACAAGGCTACCCCACTGCATC	0.647																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2710-2712)acC>acT		zinc finger protein 831							29.0	32.0	31.0					20																	57768786		1990	4160	6150	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768786C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2712C>T	20.37:g.57768786C>T							p.T904T	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2712	+	all_lung(29;0.0085)		904					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2712C>T	CCDS42894.1																																																																																				0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		13	32	0	0	0	1	0	13	32				
SSC4D	136853	broad.mit.edu	37	7	76029650	76029650	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:76029650C>T	ENST00000275560.3	-	4	775	c.428G>A	c.(427-429)gGc>gAc	p.G143D	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ATTGTGGACGCCCCAGCCGCG	0.657																																						ENST00000275560.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(427-429)gGc>gAc		scavenger receptor cysteine rich domain containing, group B (4 domains)							32.0	34.0	34.0					7																	76029650		2196	4291	6487	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76029650C>T																												ENST00000275560.3:c.428G>A	7.37:g.76029650C>T	ENSP00000275560:p.Gly143Asp					ZP3_ENST00000336517.4_Intron	p.G143D	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			4	775	-			143			SRCR 1.			Missense_Mutation	SNP	ENST00000275560.3	37	c.428G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155004	0.78114	.	.	ENSG00000146700	ENST00000275560	T	0.50001	0.76	5.45	5.45	0.79879	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.111292	0.64402	D	0.000013	T	0.71978	0.3404	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.73994	-0.3807	10	0.52906	T	0.07	.	18.644	0.91405	0.0:1.0:0.0:0.0	.	143	Q8WTU2	SRB4D_HUMAN	D	143	ENSP00000275560:G143D	ENSP00000275560:G143D	G	-	2	0	SRCRB4D	75867586	0.995000	0.38212	0.979000	0.43373	0.980000	0.70556	3.216000	0.51176	2.722000	0.93159	0.563000	0.77884	GGC		0.657	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			5	74	0	0	0	1	0	5	74				
C15orf39	56905	broad.mit.edu	37	15	75498473	75498473	+	Silent	SNP	G	G	A	rs527380769		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75498473G>A	ENST00000360639.2	+	2	404	c.84G>A	c.(82-84)gaG>gaA	p.E28E	C15orf39_ENST00000394987.4_Silent_p.E28E|C15orf39_ENST00000567617.1_Silent_p.E28E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	28						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCGGGCTCGAGCACAGCCTGC	0.607																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(82-84)gaG>gaA		chromosome 15 open reading frame 39							73.0	57.0	62.0					15																	75498473		2197	4295	6492	SO:0001819	synonymous_variant	56905							g.chr15:75498473G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.84G>A	15.37:g.75498473G>A						C15orf39_ENST00000567617.1_Silent_p.E28E|C15orf39_ENST00000394987.4_Silent_p.E28E	p.E28E			Q6ZRI6	CO039_HUMAN			2	404	+			28					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	c.84G>A	CCDS10276.1																																																																																				0.607	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		14	22	0	0	0	1	0	14	22				
APBA1	320	broad.mit.edu	37	9	72131089	72131089	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:72131089G>A	ENST00000265381.4	-	2	1260	c.1038C>T	c.(1036-1038)atC>atT	p.I346I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	346					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGCCAGCGAGATGGCATCGC	0.706																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1036-1038)atC>atT		amyloid beta (A4) precursor protein-binding, family A, member 1							97.0	72.0	80.0					9																	72131089		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131089G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1038C>T	9.37:g.72131089G>A							p.I346I	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1260	-			346					O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1038C>T	CCDS6630.1																																																																																				0.706	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		8	66	0	0	0	1	0	8	66				
CDC14A	8556	broad.mit.edu	37	1	100963673	100963673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100963673C>T	ENST00000336454.3	+	14	1686	c.1331C>T	c.(1330-1332)aCt>aTt	p.T444I	CDC14A_ENST00000542213.1_Missense_Mutation_p.T386I|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.T444I|CDC14A_ENST00000544534.1_Missense_Mutation_p.T444I	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	444					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGCAGTTACTTTGAAGACA	0.403																																						ENST00000336454.3																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1330-1332)aCt>aTt		cell division cycle 14A							138.0	132.0	134.0					1																	100963673		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100963673C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1331C>T	1.37:g.100963673C>T	ENSP00000336739:p.Thr444Ile					CDC14A_ENST00000544534.1_Missense_Mutation_p.T444I|CDC14A_ENST00000361544.6_Missense_Mutation_p.T444I|CDC14A_ENST00000542213.1_Missense_Mutation_p.T386I|CDC14A_ENST00000370125.2_3'UTR	p.T444I	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	14	1686	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	444					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.1331C>T	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401518	0.11696	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.10005	2.92;2.92;3.11;2.93	5.38	3.47	0.39725	.	0.608969	0.17547	N	0.170339	T	0.04137	0.0115	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.22983	0.001;0.059;0.047;0.078	B;B;B;B	0.31101	0.009;0.028;0.078;0.124	T	0.35450	-0.9788	10	0.44086	T	0.13	-0.2127	9.6973	0.40165	0.0:0.7848:0.1404:0.0748	.	386;444;444;444	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	I	386;444;444;444	ENSP00000442640:T386I;ENSP00000354916:T444I;ENSP00000336739:T444I;ENSP00000442543:T444I	ENSP00000336739:T444I	T	+	2	0	CDC14A	100736261	0.017000	0.18338	0.001000	0.08648	0.001000	0.01503	1.992000	0.40737	0.719000	0.32188	-0.140000	0.14226	ACT		0.403	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		42	70	0	0	0	1	0	42	70				
LETMD1	25875	broad.mit.edu	37	12	51442181	51442181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:51442181G>A	ENST00000262055.4	+	1	81	c.42G>A	c.(40-42)tgG>tgA	p.W14*	LETMD1_ENST00000552739.1_Nonsense_Mutation_p.W14*|LETMD1_ENST00000547008.1_Nonsense_Mutation_p.W14*|LETMD1_ENST00000418425.2_Nonsense_Mutation_p.W14*|LETMD1_ENST00000380123.2_Nonsense_Mutation_p.W14*|LETMD1_ENST00000550929.1_Intron|LETMD1_ENST00000548516.1_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	14	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CGGCTGTGTGGGGCTCGGCAG	0.622											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(40-42)tgG>tgA		LETM1 domain containing 1							88.0	95.0	93.0					12																	51442181		2203	4300	6503	SO:0001587	stop_gained	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442181G>A	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.42G>A	12.37:g.51442181G>A	ENSP00000262055:p.Trp14*		OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	977	LETMD1_ENST00000547008.1_Nonsense_Mutation_p.W14*|LETMD1_ENST00000550929.1_Intron|LETMD1_ENST00000552739.1_Nonsense_Mutation_p.W14*|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_Nonsense_Mutation_p.W14*|LETMD1_ENST00000262055.4_Nonsense_Mutation_p.W14*	p.W14*	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			1	61	+			14			Required and sufficient for mitochondrial import.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Nonsense_Mutation	SNP	ENST00000262055.4	37	c.42G>A	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405392	0.42715	.	.	ENSG00000050426	ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008;ENST00000552739	.	.	.	4.69	3.8	0.43715	.	0.407398	0.25009	N	0.033852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-1.8822	11.1891	0.48675	0.0:0.1846:0.8154:0.0	.	.	.	.	X	14	.	ENSP00000262055:W14X	W	+	3	0	LETMD1	49728448	1.000000	0.71417	0.992000	0.48379	0.094000	0.18550	2.194000	0.42668	1.576000	0.49790	-0.150000	0.13652	TGG		0.622	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		10	114	0	0	0	1	0	10	114				
XIRP1	165904	broad.mit.edu	37	3	39229832	39229832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:39229832G>A	ENST00000340369.3	-	2	1333	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P369S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	369					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCTCCTTGGGTGGGGCCTCT	0.577																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1105-1107)Ccc>Tcc		xin actin-binding repeat containing 1							108.0	117.0	114.0					3																	39229832		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39229832G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1105C>T	3.37:g.39229832G>A	ENSP00000343140:p.Pro369Ser					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P369S	p.P369S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1333	-			369					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.1105C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	5.075	0.199565	0.09652	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04317	3.65;4.03	4.89	0.56	0.17279	.	0.579503	0.13073	U	0.415911	T	0.03390	0.0098	N	0.14661	0.345	0.47037	D	0.999296	P;B	0.39282	0.666;0.452	B;B	0.33454	0.162;0.164	T	0.53236	-0.8467	10	0.49607	T	0.09	.	14.8521	0.70306	0.0:0.5583:0.4417:0.0	.	369;369	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	369	ENSP00000379550:P369S;ENSP00000343140:P369S	ENSP00000343140:P369S	P	-	1	0	XIRP1	39204836	0.100000	0.21855	0.944000	0.38274	0.343000	0.28985	0.339000	0.19875	0.174000	0.19809	0.655000	0.94253	CCC		0.577	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		64	116	0	0	0	1	0	64	116				
CC2D2A	57545	broad.mit.edu	37	4	15556792	15556792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:15556792C>T	ENST00000503292.1	+	21	2764	c.2584C>T	c.(2584-2586)Cca>Tca	p.P862S	CC2D2A_ENST00000389652.5_Missense_Mutation_p.P813S|CC2D2A_ENST00000424120.1_Missense_Mutation_p.P862S|CC2D2A_ENST00000413206.1_Missense_Mutation_p.P862S	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	862					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)				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						CAAGCTCGACCCAAATGACCC	0.468																																						ENST00000424120.1																			0				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						c.(2584-2586)Cca>Tca		coiled-coil and C2 domain containing 2A							116.0	123.0	121.0					4																	15556792		1998	4176	6174	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15556792C>T	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.2584C>T	4.37:g.15556792C>T	ENSP00000421809:p.Pro862Ser					CC2D2A_ENST00000503292.1_Missense_Mutation_p.P862S|CC2D2A_ENST00000413206.1_Missense_Mutation_p.P862S|CC2D2A_ENST00000389652.5_Missense_Mutation_p.P813S	p.P862S			Q9P2K1	C2D2A_HUMAN			20	2838	+			862					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.2584C>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118674	0.94385	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.54	5.54	0.83059	.	0.058031	0.64402	D	0.000001	T	0.78929	0.4361	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81221	-0.1031	10	0.87932	D	0	.	19.4751	0.94983	0.0:1.0:0.0:0.0	.	862;813	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	S	862;862;813;813;862;813	ENSP00000403465:P862S;ENSP00000398391:P862S;ENSP00000421809:P862S;ENSP00000374303:P813S	ENSP00000374303:P813S	P	+	1	0	CC2D2A	15165890	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.589000	0.82641	2.618000	0.88619	0.655000	0.94253	CCA		0.468	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		24	26	0	0	0	1	0	24	26				
CXCL5	6374	broad.mit.edu	37	4	74863733	74863733	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:74863733C>T	ENST00000296027.4	-	3	519	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	108					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AAGTACCCGTCCAAAATTTTC	0.393																																						ENST00000296027.4																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(322-324)Gac>Aac		chemokine (C-X-C motif) ligand 5							80.0	89.0	86.0					4																	74863733		2203	4299	6502	SO:0001583	missense	6374				cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	g.chr4:74863733C>T	X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"""Endogenous ligands"""	10642	protein-coding gene	gene with protein product		600324	"""small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"""	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.322G>A	4.37:g.74863733C>T	ENSP00000296027:p.Asp108Asn						p.D108N	NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		3	519	-	Breast(15;0.00136)		108					Q96QE1	Missense_Mutation	SNP	ENST00000296027.4	37	c.322G>A	CCDS34006.1	.	.	.	.	.	.	.	.	.	.	C	5.058	0.196279	0.09599	.	.	ENSG00000163735	ENST00000296027	.	.	.	3.48	2.63	0.31362	Chemokine interleukin-8-like domain (1);	0.628765	0.17685	N	0.165491	T	0.19565	0.0470	N	0.21583	0.68	0.09310	N	1	P	0.35272	0.493	B	0.32393	0.145	T	0.10800	-1.0614	9	0.23302	T	0.38	.	6.7496	0.23480	0.0:0.8648:0.0:0.1352	.	108	P42830	CXCL5_HUMAN	N	108	.	ENSP00000296027:D108N	D	-	1	0	CXCL5	75082597	0.006000	0.16342	0.617000	0.29091	0.710000	0.40934	-0.264000	0.08658	0.810000	0.34279	0.306000	0.20318	GAC		0.393	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994		10	102	0	0	0	1	0	10	102				
GRID2	2895	broad.mit.edu	37	4	94159596	94159596	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:94159596C>T	ENST00000282020.4	+	8	1458	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	GRID2_ENST00000510992.1_Silent_p.I305I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	400					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ACTTTGAAATCCTTGGAACCA	0.418																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1198-1200)atC>atT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						119.0	123.0	122.0					4																	94159596		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94159596C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1200C>T	4.37:g.94159596C>T						GRID2_ENST00000510992.1_Silent_p.I305I	p.I400I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	8	1458	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	400					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1200C>T	CCDS3637.1																																																																																				0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			29	92	0	0	0	1	0	29	92				
CES4A	283848	broad.mit.edu	37	16	67039236	67039236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67039236G>A	ENST00000326686.5	+	11	1255	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	CES4A_ENST00000541479.1_Missense_Mutation_p.D415N|CES4A_ENST00000535696.1_Missense_Mutation_p.D325N|CES4A_ENST00000540579.1_Missense_Mutation_p.D321N|CES4A_ENST00000398354.1_Missense_Mutation_p.D392N|CES4A_ENST00000540947.2_Missense_Mutation_p.D419N|CES4A_ENST00000338718.4_Missense_Mutation_p.D442N			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	419						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCGTATGATGGACATAGTTCA	0.527																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1255-1257)Gac>Aac		carboxylesterase 4A							132.0	137.0	135.0					16																	67039236		2118	4237	6355	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67039236G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1255G>A	16.37:g.67039236G>A	ENSP00000314145:p.Asp419Asn					CES4A_ENST00000541479.1_Missense_Mutation_p.D415N|CES4A_ENST00000535696.1_Missense_Mutation_p.D325N|CES4A_ENST00000338718.4_Missense_Mutation_p.D442N|CES4A_ENST00000326686.5_Missense_Mutation_p.D419N|CES4A_ENST00000398354.1_Missense_Mutation_p.D392N|CES4A_ENST00000540579.1_Missense_Mutation_p.D321N	p.D419N	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			11	1439	+			419					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1255G>A		.	.	.	.	.	.	.	.	.	.	g	15.23	2.771028	0.49680	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.67698	0.16;0.16;0.16;0.16;-0.28;0.16;-0.28;0.16	4.06	0.91	0.19337	Carboxylesterase, type B (1);	0.371075	0.19537	N	0.111888	T	0.52549	0.1741	L	0.39467	1.215	0.41703	D	0.989417	B;B;B;P	0.46952	0.035;0.035;0.087;0.887	B;B;B;B	0.42798	0.021;0.021;0.398;0.395	T	0.49113	-0.8973	10	0.51188	T	0.08	.	4.9037	0.13788	0.2005:0.0:0.6259:0.1737	.	325;442;419;415	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	N	419;415;442;392;419;355;321;325	ENSP00000444052:D419N;ENSP00000443175:D415N;ENSP00000340714:D442N;ENSP00000381397:D392N;ENSP00000314145:D419N;ENSP00000441103:D355N;ENSP00000441907:D321N;ENSP00000441644:D325N	ENSP00000314145:D419N	D	+	1	0	CES4A	65596737	0.140000	0.22579	0.038000	0.18304	0.105000	0.19272	1.206000	0.32321	0.435000	0.26365	0.486000	0.48141	GAC		0.527	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		24	55	0	0	0	1	0	24	55				
DDX5	1655	broad.mit.edu	37	17	62499550	62499550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:62499550C>T	ENST00000225792.5	-	6	1048	c.647G>A	c.(646-648)aGa>aAa	p.R216K	DDX5_ENST00000450599.2_Missense_Mutation_p.R137K|MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Missense_Mutation_p.R216K	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	216	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTACATACCTCTCTCCAAATC	0.383			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(646-648)aGa>aAa		DEAD (Asp-Glu-Ala-Asp) box helicase 5							100.0	96.0	97.0					17																	62499550		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62499550C>T	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.647G>A	17.37:g.62499550C>T	ENSP00000225792:p.Arg216Lys					DDX5_ENST00000450599.2_Missense_Mutation_p.R137K|DDX5_ENST00000578804.1_Missense_Mutation_p.R216K	p.R216K	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		6	1048	-	Breast(5;2.15e-14)		216			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.647G>A	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843370	0.51057	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.51	5.51	0.81932	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	N	0.04320	-0.23	0.80722	D	1	B;B;B	0.24043	0.018;0.096;0.096	B;B;B	0.35931	0.075;0.139;0.214	T	0.49716	-0.8910	9	0.56958	D	0.05	-13.323	19.451	0.94867	0.0:1.0:0.0:0.0	.	137;216;216	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	K	216;146;205	.	ENSP00000225792:R205K	R	-	2	0	DDX5	59930012	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	7.300000	0.78841	2.593000	0.87608	0.655000	0.94253	AGA		0.383	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		6	94	0	0	0	1	0	6	94				
SELE	6401	broad.mit.edu	37	1	169697039	169697039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:169697039G>A	ENST00000333360.7	-	9	1448	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S	SELE_ENST00000367774.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.P374S|SELE_ENST00000367781.4_Missense_Mutation_p.P374S|SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.P312S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.P312S|SELE_ENST00000367777.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	437	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AAACCCTTCGGGGGCTGGTGG	0.493																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1309-1311)Ccg>Tcg		selectin E							81.0	78.0	79.0					1																	169697039		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169697039G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1309C>T	1.37:g.169697039G>A	ENSP00000331736:p.Pro437Ser					SELE_ENST00000367779.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P374S|SELE_ENST00000367780.4_Missense_Mutation_p.P312S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.P312S|SELE_ENST00000367782.4_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.P374S	p.P437S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			9	1448	-	all_hematologic(923;0.208)		437			Sushi 5.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1309C>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	6.002	0.368867	0.11352	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.9	1.71	0.24356	Complement control module (2);Sushi/SCR/CCP (2);	0.803958	0.10518	N	0.665339	T	0.25005	0.0607	N	0.21583	0.68	0.09310	N	1	B	0.29481	0.245	B	0.31101	0.124	T	0.25710	-1.0124	10	0.15952	T	0.53	-0.0384	11.8157	0.52209	0.0:0.416:0.4424:0.1415	.	437	P16581	LYAM2_HUMAN	S	374;312;437;312;374	ENSP00000356755:P374S;ENSP00000356754:P312S;ENSP00000331736:P437S;ENSP00000356749:P312S;ENSP00000356750:P374S	ENSP00000331736:P437S	P	-	1	0	SELE	167963663	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.317000	0.19487	0.369000	0.24510	0.650000	0.86243	CCG		0.493	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		35	66	0	0	0	1	0	35	66				
MFSD6	54842	broad.mit.edu	37	2	191362285	191362285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:191362285C>T	ENST00000392328.1	+	7	2336	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	MFSD6_ENST00000535751.1_Missense_Mutation_p.P133L|MFSD6_ENST00000281416.7_Missense_Mutation_p.P671L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	671					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGACTTCCACCCAAGAAAACT	0.502																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(2011-2013)cCc>cTc		major facilitator superfamily domain containing 6							163.0	139.0	147.0					2																	191362285		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191362285C>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.2012C>T	2.37:g.191362285C>T	ENSP00000376141:p.Pro671Leu					MFSD6_ENST00000535751.1_Missense_Mutation_p.P133L|MFSD6_ENST00000281416.7_Missense_Mutation_p.P671L	p.P671L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			7	2336	+			671					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.2012C>T	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756163	0.31137	.	.	ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000444317;ENST00000535751	T;T	0.28666	1.6;1.6	5.44	4.55	0.56014	.	0.350049	0.33875	N	0.004467	T	0.12987	0.0315	N	0.03608	-0.345	0.46131	D	0.99888	B	0.15141	0.012	B	0.14578	0.011	T	0.15235	-1.0444	10	0.13853	T	0.58	-21.372	11.5119	0.50498	0.0:0.8611:0.0:0.1389	.	671	Q6ZSS7	MFSD6_HUMAN	L	671;671;133;133	ENSP00000376141:P671L;ENSP00000281416:P671L	ENSP00000281416:P671L	P	+	2	0	MFSD6	191070530	0.943000	0.32029	0.999000	0.59377	0.991000	0.79684	1.387000	0.34430	2.720000	0.93068	0.650000	0.86243	CCC		0.502	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			36	67	0	0	0	1	0	36	67				
ATM	472	broad.mit.edu	37	11	108098602	108098602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:108098602G>A	ENST00000452508.2	+	4	361	c.172G>A	c.(172-174)Gat>Aat	p.D58N	Y_RNA_ENST00000384240.1_RNA|ATM_ENST00000278616.4_Missense_Mutation_p.D58N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	58					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTGAATTGGGATGCTGTTTT	0.294			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(172-174)Gat>Aat	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							78.0	87.0	83.0					11																	108098602		2201	4294	6495	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108098602G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.172G>A	11.37:g.108098602G>A	ENSP00000388058:p.Asp58Asn	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.D58N	p.D58N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	3	557	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	58					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.172G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045850	0.93685	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000527891;ENST00000532931;ENST00000452508	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	5.14	5.14	0.70334	Telomere-length maintenance and DNA damage repair (1);	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	L	0.55481	1.735	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.73764	-0.3880	10	0.52906	T	0.07	.	18.9664	0.92698	0.0:0.0:1.0:0.0	.	58;58	Q6P7P1;Q13315	.;ATM_HUMAN	N	58	ENSP00000435747:D58N;ENSP00000278616:D58N;ENSP00000433955:D58N;ENSP00000432318:D58N;ENSP00000388058:D58N	ENSP00000278616:D58N	D	+	1	0	ATM	107603812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.735000	0.91549	2.543000	0.85770	0.557000	0.71058	GAT		0.294	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		36	68	0	0	0	1	0	36	68				
WDFY3	23001	broad.mit.edu	37	4	85771163	85771163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:85771163G>A	ENST00000295888.4	-	5	603	c.196C>T	c.(196-198)Ccg>Tcg	p.P66S	WDFY3_ENST00000322366.6_Missense_Mutation_p.P66S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	66					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTATTCGGCGGAGCATTTCCA	0.348																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(196-198)Ccg>Tcg		WD repeat and FYVE domain containing 3							95.0	94.0	94.0					4																	85771163		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85771163G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.196C>T	4.37:g.85771163G>A	ENSP00000295888:p.Pro66Ser					WDFY3_ENST00000295888.4_Missense_Mutation_p.P66S	p.P66S			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	5	603	-		Hepatocellular(203;0.114)	66					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.196C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701978	0.88924	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63580	-0.05;-0.05	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.31752	0.955	0.80722	D	1	P;P	0.45044	0.849;0.671	B;B	0.40009	0.316;0.222	T	0.48433	-0.9036	10	0.22109	T	0.4	.	19.3354	0.94316	0.0:0.0:1.0:0.0	.	66;66	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	S	66	ENSP00000318466:P66S;ENSP00000295888:P66S	ENSP00000295888:P66S	P	-	1	0	WDFY3	85990187	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.723000	0.98772	2.734000	0.93682	0.655000	0.94253	CCG		0.348	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	122	0	0	0	1	0	6	122				
SPTA1	6708	broad.mit.edu	37	1	158589981	158589981	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:158589981C>T	ENST00000368147.4	-	44	6576	c.6396G>A	c.(6394-6396)aaG>aaA	p.K2132K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2132					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGATAGGTGCTTCCAGGTCC	0.438																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6394-6396)aaG>aaA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							105.0	106.0	106.0					1																	158589981		1903	4121	6024	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158589981C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6396G>A	1.37:g.158589981C>T						SPTA1_ENST00000368147.3_Silent_p.K2129K	p.K2132K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			44	6576	-	all_hematologic(112;0.0378)		2132					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6396G>A	CCDS41423.1																																																																																				0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	114	0	0	0	1	0	6	114				
CKAP2L	150468	broad.mit.edu	37	2	113514280	113514280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113514280G>A	ENST00000302450.6	-	4	746	c.668C>T	c.(667-669)cCt>cTt	p.P223L	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.P58L	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	223						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGCTTGTTTAGGAACTAAACT	0.368																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(172-174)cCt>cTt		cytoskeleton associated protein 2-like							110.0	115.0	113.0					2																	113514280		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514280G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.668C>T	2.37:g.113514280G>A	ENSP00000305204:p.Pro223Leu					CKAP2L_ENST00000302450.6_Missense_Mutation_p.P223L	p.P58L			Q8IYA6	CKP2L_HUMAN			4	696	-			223					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.173C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	8.291	0.817659	0.16607	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.12672	2.66;3.33	5.0	3.18	0.36537	.	0.768240	0.12070	N	0.502349	T	0.13415	0.0325	L	0.50333	1.59	0.38035	D	0.935286	B	0.27932	0.194	B	0.26094	0.066	T	0.09907	-1.0653	10	0.72032	D	0.01	-0.0472	6.8999	0.24277	0.2022:0.0:0.7978:0.0	.	223	Q8IYA6	CKP2L_HUMAN	L	58;223	ENSP00000438763:P58L;ENSP00000305204:P223L	ENSP00000305204:P223L	P	-	2	0	CKAP2L	113230751	0.488000	0.25996	0.401000	0.26359	0.266000	0.26442	1.037000	0.30241	1.422000	0.47177	0.585000	0.79938	CCT		0.368	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		44	67	0	0	0	1	0	44	67				
SRCAP	10847	broad.mit.edu	37	16	30749049	30749049	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30749049C>T	ENST00000262518.4	+	34	8073	c.7688C>T	c.(7687-7689)tCc>tTc	p.S2563F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2501F|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2405F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2563	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCCAGAGTCCCTGGAGCTG	0.567																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7687-7689)tCc>tTc		Snf2-related CREBBP activator protein							75.0	76.0	75.0					16																	30749049		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749049C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7688C>T	16.37:g.30749049C>T	ENSP00000262518:p.Ser2563Phe					SRCAP_ENST00000395059.2_Missense_Mutation_p.S2501F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2405F	p.S2563F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8073	+			2563			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7688C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	8.533	0.871468	0.17322	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92199	-2.98;-2.99;-2.99	4.8	4.8	0.61643	.	0.467746	0.18217	N	0.148019	D	0.84428	0.5470	N	0.08118	0	0.27823	N	0.941725	B;B	0.31351	0.32;0.214	B;B	0.34138	0.176;0.085	T	0.80879	-0.1185	10	0.87932	D	0	0.0034	13.2214	0.59890	0.0:1.0:0.0:0.0	.	2501;2563	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	F	2563;2501;2405	ENSP00000262518:S2563F;ENSP00000378499:S2501F;ENSP00000343042:S2405F	ENSP00000262518:S2563F	S	+	2	0	SRCAP	30656550	0.999000	0.42202	0.916000	0.36221	0.596000	0.36781	3.576000	0.53878	2.497000	0.84241	0.467000	0.42956	TCC		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		25	52	0	0	0	1	0	25	52				
CCDC153	283152	broad.mit.edu	37	11	119061081	119061081	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:119061081C>T	ENST00000503566.2	-	6	560	c.561G>A	c.(559-561)agG>agA	p.R187R	CCDC153_ENST00000415318.1_Silent_p.R187R			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	187										lung(3)|stomach(1)	4						GCTCCTTGTGCCTGGCGTGAA	0.562																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(559-561)agG>agA		coiled-coil domain containing 153							119.0	105.0	110.0					11																	119061081		2200	4295	6495	SO:0001819	synonymous_variant	283152							g.chr11:119061081C>T		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.561G>A	11.37:g.119061081C>T						CCDC153_ENST00000415318.1_Silent_p.R187R	p.R187R			Q494R4	CC153_HUMAN			6	560	-			187						Silent	SNP	ENST00000503566.2	37	c.561G>A	CCDS44753.1																																																																																				0.562	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		4	95	0	0	0	1	0	4	95				
PLXNA4	91584	broad.mit.edu	37	7	131887543	131887543	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:131887543C>T	ENST00000359827.3	-	12	3410	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	PLXNA4_ENST00000321063.4_Silent_p.K816K			Q9HCM2	PLXA4_HUMAN	plexin A4	816	PSI 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGGGTCAGCCTTGAGGCACA	0.647																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2446-2448)aaG>aaA		plexin A4							22.0	25.0	24.0					7																	131887543		2150	4270	6420	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131887543C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2448G>A	7.37:g.131887543C>T						PLXNA4_ENST00000321063.4_Silent_p.K816K	p.K816K			Q9HCM2	PLXA4_HUMAN			12	3410	-			816			PSI 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.2448G>A	CCDS43646.1																																																																																				0.647	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		5	32	0	0	0	1	0	5	32				
ABCC2	1244	broad.mit.edu	37	10	101606830	101606830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101606830C>T	ENST00000370449.4	+	30	4372	c.4259C>T	c.(4258-4260)gCc>gTc	p.A1420V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1420	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCTTTTGTGGCCAGCCTGCAA	0.522																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(4258-4260)gCc>gTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						118.0	113.0	115.0					10																	101606830		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101606830C>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4259C>T	10.37:g.101606830C>T	ENSP00000359478:p.Ala1420Val						p.A1420V	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	30	4372	+		Colorectal(252;0.234)	1420			ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.4259C>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	7.043	0.562934	0.13498	.	.	ENSG00000023839	ENST00000370449	D	0.90444	-2.67	4.88	1.89	0.25635	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.502634	0.21247	N	0.077705	D	0.84915	0.5578	L	0.28400	0.85	0.09310	N	0.999995	B	0.34399	0.452	B	0.42692	0.395	T	0.76217	-0.3040	10	0.54805	T	0.06	-2.0078	4.3281	0.11050	0.4313:0.377:0.114:0.0777	.	1420	Q92887	MRP2_HUMAN	V	1420	ENSP00000359478:A1420V	ENSP00000359478:A1420V	A	+	2	0	ABCC2	101596820	0.002000	0.14202	0.680000	0.29994	0.028000	0.11728	0.042000	0.13949	0.666000	0.31087	0.650000	0.86243	GCC		0.522	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		17	127	0	0	0	1	0	17	127				
PDE3A	5139	broad.mit.edu	37	12	20766407	20766407	+	Missense_Mutation	SNP	G	G	A	rs375987423		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:20766407G>A	ENST00000359062.3	+	3	1082	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	348					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGTGGACATCGCCGTCATGGG	0.517																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1042-1044)Gcc>Acc		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	91.0	82.0	85.0		1042	5.9	0.8	12		85	0,8600		0,0,4300	no	missense	PDE3A	NM_000921.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	348/1142	20766407	1,13005	2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766407G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1042G>A	12.37:g.20766407G>A	ENSP00000351957:p.Ala348Thr					PDE3A_ENST00000544307.1_3'UTR	p.A348T	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			3	1082	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	348					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1042G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078003	0.94000	2.27E-4	0.0	ENSG00000172572	ENST00000359062	T	0.58652	0.32	5.86	5.86	0.93980	.	.	.	.	.	T	0.75989	0.3925	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75542	-0.3281	9	0.72032	D	0.01	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	348	Q14432	PDE3A_HUMAN	T	348	ENSP00000351957:A348T	ENSP00000351957:A348T	A	+	1	0	PDE3A	20657674	1.000000	0.71417	0.790000	0.31976	0.592000	0.36648	8.848000	0.92172	2.937000	0.99478	0.650000	0.86243	GCC		0.517	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			4	82	0	0	0	1	0	4	82				
AOC2	314	broad.mit.edu	37	17	40997221	40997221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:40997221C>T	ENST00000253799.3	+	1	605	c.578C>T	c.(577-579)tCc>tTc	p.S193F	AOC2_ENST00000452774.2_Missense_Mutation_p.S193F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	193					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTCCTGTCGTCCACCTTCAAC	0.592																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(577-579)tCc>tTc		amine oxidase, copper containing 2 (retina-specific)							64.0	63.0	63.0					17																	40997221		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997221C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.578C>T	17.37:g.40997221C>T	ENSP00000253799:p.Ser193Phe					AOC2_ENST00000452774.2_Missense_Mutation_p.S193F	p.S193F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	605	+		Breast(137;0.000143)	193					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.578C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963003	0.34659	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.33654	1.4;1.4	5.6	5.6	0.85130	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.412552	0.27027	N	0.021281	T	0.42899	0.1223	L	0.58101	1.795	0.35537	D	0.802742	P;P	0.40794	0.729;0.683	P;B	0.45753	0.492;0.359	T	0.56450	-0.7977	10	0.56958	D	0.05	-35.9408	12.6705	0.56864	0.2761:0.7239:0.0:0.0	.	193;193	O75106;O75106-2	AOC2_HUMAN;.	F	193	ENSP00000253799:S193F;ENSP00000406134:S193F	ENSP00000253799:S193F	S	+	2	0	AOC2	38250747	0.532000	0.26346	1.000000	0.80357	0.326000	0.28443	3.883000	0.56168	2.622000	0.88805	0.655000	0.94253	TCC		0.592	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		4	107	0	0	0	1	0	4	107				
TSHR	7253	broad.mit.edu	37	14	81610453	81610453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:81610453C>T	ENST00000541158.2	+	11	2373	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	TSHR_ENST00000298171.2_Missense_Mutation_p.A684V|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	684					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCACCAAGGCCTTCCAGAGG	0.488			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(2050-2052)gCc>gTc		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						163.0	159.0	160.0					14																	81610453		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610453C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.2051C>T	14.37:g.81610453C>T	ENSP00000441235:p.Ala684Val					RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A684V	p.A684V			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	2373	+			684					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.2051C>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114552	0.77210	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.37584	1.19;1.19	5.23	4.32	0.51571	.	0.100192	0.64402	D	0.000002	T	0.53818	0.1820	M	0.84773	2.715	0.54753	D	0.999988	P	0.47034	0.889	P	0.49829	0.623	T	0.63051	-0.6723	10	0.59425	D	0.04	.	14.9568	0.71120	0.144:0.856:0.0:0.0	.	684	F5GYU5	.	V	684;331;684	ENSP00000441235:A684V;ENSP00000298171:A684V	ENSP00000298171:A684V	A	+	2	0	TSHR	80680206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.068000	0.71201	1.171000	0.42768	0.561000	0.74099	GCC		0.488	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		8	90	0	0	0	1	0	8	90				
DBF4	10926	broad.mit.edu	37	7	87536915	87536915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:87536915G>A	ENST00000265728.1	+	12	1966	c.1462G>A	c.(1462-1464)Gca>Aca	p.A488T		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	488					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TAACATACAGGCATCTGTACA	0.348																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(1462-1464)Gca>Aca		DBF4 homolog (S. cerevisiae)							85.0	82.0	83.0					7																	87536915		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87536915G>A	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1462G>A	7.37:g.87536915G>A	ENSP00000265728:p.Ala488Thr						p.A488T	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			12	1966	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	488					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1462G>A	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.934600	0.00488	.	.	ENSG00000006634	ENST00000265728	T	0.28255	1.62	5.68	-4.97	0.03029	.	0.544920	0.18567	N	0.137449	T	0.07683	0.0193	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.28427	-1.0044	10	0.06625	T	0.88	0.1746	4.2414	0.10650	0.3553:0.11:0.4222:0.1124	.	264;488	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	T	488	ENSP00000265728:A488T	ENSP00000265728:A488T	A	+	1	0	DBF4	87374851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.058000	0.14301	-1.239000	0.02532	-0.302000	0.09304	GCA		0.348	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		29	82	0	0	0	1	0	29	82				
UGT1A7	54577	broad.mit.edu	37	2	234591095	234591095	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:234591095G>A	ENST00000373426.3	+	1	512	c.512G>A	c.(511-513)gGa>gAa	p.G171E	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	171					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TTCGCCAGGGGAATATTTTGC	0.473																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(511-513)gGa>gAa									155.0	161.0	159.0					2																	234591095		2203	4300	6503	SO:0001583	missense	0							g.chr2:234591095G>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.512G>A	2.37:g.234591095G>A	ENSP00000362525:p.Gly171Glu					UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.G171E	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	512	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.512G>A	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.68|12.68	2.009414|2.009414	0.35415|0.35415	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.06768	.|3.26	4.34|4.34	2.48|2.48	0.30137|0.30137	.|.	.|.	.|.	.|.	.|.	T|T	0.24431|0.24431	0.0592|0.0592	M|M	0.84156|0.84156	2.68|2.68	0.30697|0.30697	N|N	0.750686|0.750686	.|D;D	.|0.53462	.|0.96;0.96	.|P;P	.|0.56916	.|0.809;0.809	T|T	0.13229|0.13229	-1.0517|-1.0517	5|9	.|0.35671	.|T	.|0.21	.|.	12.7845|12.7845	0.57496|0.57496	0.0:0.0:0.701:0.299|0.0:0.0:0.701:0.299	.|.	.|171;171	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	K|E	28|171	.|ENSP00000362525:G171E	.|ENSP00000362525:G171E	E|G	+|+	1|2	0|0	UGT1A7|UGT1A7	234255834|234255834	0.900000|0.900000	0.30661|0.30661	0.009000|0.009000	0.14445|0.14445	0.054000|0.054000	0.15201|0.15201	2.062000|2.062000	0.41413|0.41413	0.440000|0.440000	0.26502|0.26502	0.491000|0.491000	0.48974|0.48974	GAA|GGA		0.473	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		74	154	0	0	0	1	0	74	154				
TRMT1	55621	broad.mit.edu	37	19	13215863	13215863	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:13215863G>A	ENST00000592062.1	-	18	2436	c.1866C>T	c.(1864-1866)taC>taT	p.Y622Y	LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000221504.8_Silent_p.Y593Y|TRMT1_ENST00000357720.4_Silent_p.Y622Y|TRMT1_ENST00000437766.1_Silent_p.Y622Y			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	622							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCTGTGGGAGTAGCAGCACT	0.667											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1864-1866)taC>taT		tRNA methyltransferase 1 homolog (S. cerevisiae)							75.0	82.0	80.0					19																	13215863		2203	4300	6503	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13215863G>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1866C>T	19.37:g.13215863G>A			OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	TRMT1_ENST00000221504.8_Silent_p.Y593Y|TRMT1_ENST00000357720.4_Silent_p.Y622Y|TRMT1_ENST00000437766.1_Silent_p.Y622Y	p.Y622Y			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	18	2436	-			622					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.1866C>T	CCDS12293.1																																																																																				0.667	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		10	98	0	0	0	1	0	10	98				
ZP2	7783	broad.mit.edu	37	16	21213297	21213297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:21213297C>T	ENST00000574002.1	-	13	1817	c.1335G>A	c.(1333-1335)tgG>tgA	p.W445*	ZP2_ENST00000574091.1_Nonsense_Mutation_p.W445*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.W445*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	445	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GAAAATCCGTCCAGAGAGCAT	0.363																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1333-1335)tgG>tgA		zona pellucida glycoprotein 2 (sperm receptor)							101.0	98.0	99.0					16																	21213297		2200	4300	6500	SO:0001587	stop_gained	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21213297C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1335G>A	16.37:g.21213297C>T	ENSP00000460971:p.Trp445*					ZP2_ENST00000219593.4_Nonsense_Mutation_p.W445*|ZP2_ENST00000574091.1_Nonsense_Mutation_p.W445*|AF001550.7_ENST00000572747.1_RNA	p.W445*			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	13	1817	-			445			ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Nonsense_Mutation	SNP	ENST00000574002.1	37	c.1335G>A	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212214	0.79240	.	.	ENSG00000103310	ENST00000219593	.	.	.	5.83	4.88	0.63580	.	0.280784	0.31747	N	0.007134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0329	13.8716	0.63622	0.0:0.9269:0.0:0.0731	.	.	.	.	X	445	.	ENSP00000219593:W445X	W	-	3	0	ZP2	21120798	0.994000	0.37717	0.697000	0.30258	0.361000	0.29550	3.290000	0.51755	1.467000	0.48044	0.467000	0.42956	TGG		0.363	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			7	96	0	0	0	1	0	7	96				
ADAMTS17	170691	broad.mit.edu	37	15	100537626	100537626	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:100537626G>A	ENST00000268070.4	-	19	2865	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	920	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGACAGGCAGTCCTGGCCTT	0.667																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2758-2760)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							39.0	42.0	41.0					15																	100537626		2203	4299	6502	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100537626G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2760C>T	15.37:g.100537626G>A							p.D920D	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	19	2865	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		920			TSP type-1 3.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2760C>T	CCDS10383.1																																																																																				0.667	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		3	42	0	0	0	1	0	3	42				
MUC17	140453	broad.mit.edu	37	7	100679415	100679415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100679415C>T	ENST00000306151.4	+	3	4782	c.4718C>T	c.(4717-4719)aCt>aTt	p.T1573I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1573	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAAGCACTCCACTAACA	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4717-4719)aCt>aTt		mucin 17, cell surface associated							270.0	252.0	258.0					7																	100679415		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679415C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4718C>T	7.37:g.100679415C>T	ENSP00000302716:p.Thr1573Ile						p.T1573I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4782	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1573			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4718C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.308	-0.603059	0.03744	.	.	ENSG00000169876	ENST00000306151	T	0.02103	4.45	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.01353	0.0044	L	0.27053	0.805	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.51741	-0.8667	8	0.37606	T	0.19	.	.	.	.	.	1573	Q685J3	MUC17_HUMAN	I	1573	ENSP00000302716:T1573I	ENSP00000302716:T1573I	T	+	2	0	MUC17	100466135	0.000000	0.05858	0.007000	0.13788	0.025000	0.11179	0.191000	0.17076	0.132000	0.18615	0.134000	0.15878	ACT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		24	447	0	0	0	1	0	24	447				
INVS	27130	broad.mit.edu	37	9	103002421	103002421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:103002421G>A	ENST00000262457.2	+	6	880	c.695G>A	c.(694-696)gGg>gAg	p.G232E	INVS_ENST00000541287.1_Missense_Mutation_p.G136E|INVS_ENST00000262456.2_Missense_Mutation_p.G232E	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	232					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTTGCTGATGGGAATGTGACC	0.448																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(694-696)gGg>gAg		inversin							158.0	128.0	138.0					9																	103002421		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103002421G>A	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.695G>A	9.37:g.103002421G>A	ENSP00000262457:p.Gly232Glu					INVS_ENST00000262456.2_Missense_Mutation_p.G232E|INVS_ENST00000541287.1_Missense_Mutation_p.G136E	p.G232E	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			6	880	+		Acute lymphoblastic leukemia(62;0.056)	232					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.695G>A	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499173	0.96355	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.72835	-0.69;-0.69;-0.69	5.56	5.56	0.83823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	M	0.77103	2.36	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.983	D;D;D	0.80764	0.994;0.989;0.945	D	0.86469	0.1784	10	0.87932	D	0	.	19.5312	0.95230	0.0:0.0:1.0:0.0	.	136;232;232	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	E	232;136;232	ENSP00000262457:G232E;ENSP00000444454:G136E;ENSP00000262456:G232E	ENSP00000262456:G232E	G	+	2	0	INVS	102042242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.612000	0.88384	0.650000	0.86243	GGG		0.448	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		32	65	0	0	0	1	0	32	65				
CSF2RA	1438	broad.mit.edu	37	X	1422815	1422815	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:1422815G>A	ENST00000381524.3	+	11	1132		c.e11-1		CSF2RA_ENST00000417535.2_Splice_Site|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381529.3_Splice_Site|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Splice_Site|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Splice_Site|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000432318.2_Splice_Site|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000498153.1_Splice_Site			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTCTCTCCAGGTTCTGACGA	0.488																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.e11-1		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						433.0	378.0	396.0					X																	1422815		2203	4296	6499	SO:0001630	splice_region_variant	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1422815G>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.947-1G>A	X.37:g.1422815G>A						CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000501036.2_Splice_Site|CSF2RA_ENST00000417535.2_Splice_Site|CSF2RA_ENST00000498153.1_Splice_Site|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000381529.3_Splice_Site|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000432318.2_Splice_Site|CSF2RA_ENST00000381509.3_Splice_Site				P15509	CSF2R_HUMAN			11	1132	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Splice_Site	SNP	ENST00000381524.3	37		CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	2.516	-0.311807	0.05422	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000417535	.	.	.	0.806	0.806	0.18708	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8831	0.13690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSF2RA	1382815	0.135000	0.22499	0.012000	0.15200	0.019000	0.09904	1.253000	0.32886	0.736000	0.32559	0.100000	0.15512	.		0.488	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		Intron	5	232	0	0	0	1	0	5	232				
GRIN2A	2903	broad.mit.edu	37	16	9857715	9857715	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:9857715G>A	ENST00000396573.2	-	14	3995	c.3686C>T	c.(3685-3687)aCc>aTc	p.T1229I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.T1072I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1229I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1229I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1229I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1229I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1229					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGACCTCATGGTGAAGTGGCC	0.577																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3685-3687)aCc>aTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						176.0	174.0	175.0					16																	9857715		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857715G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3686C>T	16.37:g.9857715G>A	ENSP00000379818:p.Thr1229Ile					GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1229I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T1072I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1229I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1229I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1229I	p.T1229I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3995	-			1229					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3686C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016615	0.54468	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.14144	2.54;2.53;2.54;2.54;2.54	5.11	5.11	0.69529	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.273304	0.41294	D	0.000917	T	0.31263	0.0791	M	0.62723	1.935	0.34247	D	0.678292	P;P;P	0.51933	0.745;0.785;0.949	P;P;P	0.57720	0.733;0.826;0.697	T	0.33803	-0.9854	9	.	.	.	.	17.5377	0.87837	0.0:0.0:1.0:0.0	.	1072;1229;1229	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	1229;1229;1072;1229;1229	ENSP00000379818:T1229I;ENSP00000385872:T1229I;ENSP00000441572:T1072I;ENSP00000332549:T1229I;ENSP00000379820:T1229I	.	T	-	2	0	GRIN2A	9765216	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.972000	0.70448	2.365000	0.80145	0.655000	0.94253	ACC		0.577	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			5	159	0	0	0	1	0	5	159				
TTC4	7268	broad.mit.edu	37	1	55194030	55194030	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:55194030G>A	ENST00000371281.3	+	6	693	c.606G>A	c.(604-606)caG>caA	p.Q202Q	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	202										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GAATTGAACAGAGGGATGTGA	0.413																																						ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(604-606)caG>caA		tetratricopeptide repeat domain 4							99.0	100.0	99.0					1																	55194030		2203	4300	6503	SO:0001819	synonymous_variant	7268						binding	g.chr1:55194030G>A		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.606G>A	1.37:g.55194030G>A						MROH7_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	p.Q202Q	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			6	693	+			202					Q53Y95|Q5TA96|Q9H3I2	Silent	SNP	ENST00000371281.3	37	c.606G>A	CCDS596.1																																																																																				0.413	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		10	20	0	0	0	1	0	10	20				
PLEKHM1	9842	broad.mit.edu	37	17	43522989	43522989	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:43522989G>A	ENST00000430334.3	-	9	2817	c.2684C>T	c.(2683-2685)gCc>gTc	p.A895V	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A806V|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	895					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGGGGCTGGGCCCGGATCTG	0.597																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2683-2685)gCc>gTc		pleckstrin homology domain containing, family M (with RUN domain) member 1							64.0	61.0	62.0					17																	43522989		2200	4300	6500	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43522989G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2684C>T	17.37:g.43522989G>A	ENSP00000389913:p.Ala895Val					PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A806V|PLEKHM1_ENST00000580404.1_5'UTR	p.A895V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			9	2817	-	Renal(3;0.0405)		895					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2684C>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003887	0.35320	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.64085	-0.08;-0.08	4.59	1.29	0.21616	.	0.606178	0.17478	N	0.172828	T	0.43722	0.1260	L	0.34521	1.04	0.25376	N	0.988656	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.23655	-1.0182	10	0.38643	T	0.18	.	4.2158	0.10533	0.1878:0.0:0.5629:0.2493	.	806;895	F8W648;Q9Y4G2	.;PKHM1_HUMAN	V	895;844;806	ENSP00000389913:A895V;ENSP00000414352:A806V	ENSP00000414352:A806V	A	-	2	0	PLEKHM1	40878772	0.413000	0.25400	1.000000	0.80357	0.987000	0.75469	2.116000	0.41930	0.654000	0.30846	-0.663000	0.03849	GCC		0.597	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		4	67	0	0	0	1	0	4	67				
CBX5	23468	broad.mit.edu	37	12	54635582	54635582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54635582G>A	ENST00000439541.2	-	5	658	c.533C>T	c.(532-534)cCt>cTt	p.P178L	CBX5_ENST00000550411.1_Missense_Mutation_p.P178L|CBX5_ENST00000209875.4_Missense_Mutation_p.P178L	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	178	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.|Interaction with ASXL1.				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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CGCATCCTCAGGATATGCATG	0.413																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(532-534)cCt>cTt		chromobox homolog 5							284.0	253.0	264.0					12																	54635582		2203	4300	6503	SO:0001583	missense	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54635582G>A	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.533C>T	12.37:g.54635582G>A	ENSP00000401009:p.Pro178Leu					CBX5_ENST00000439541.2_Missense_Mutation_p.P178L|CBX5_ENST00000550411.1_Missense_Mutation_p.P178L	p.P178L	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			5	669	-			178			Chromo 2; shadow subtype.		B2R8T9	Missense_Mutation	SNP	ENST00000439541.2	37	c.533C>T	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817858	0.50633	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411	T;T;T	0.44881	0.91;0.91;0.91	5.08	5.08	0.68730	Chromo domain/shadow (1);	0.126503	0.52532	D	0.000080	T	0.52645	0.1747	L	0.39397	1.21	0.80722	D	1	P;B	0.51449	0.945;0.399	P;B	0.59056	0.851;0.206	T	0.52094	-0.8621	10	0.66056	D	0.02	-3.3237	16.3678	0.83341	0.0:0.0:1.0:0.0	.	177;178	G3V1X9;P45973	.;CBX5_HUMAN	L	178;178;177;178	ENSP00000209875:P178L;ENSP00000401009:P178L;ENSP00000449207:P178L	ENSP00000209875:P178L	P	-	2	0	CBX5	52921849	1.000000	0.71417	0.992000	0.48379	0.952000	0.60782	6.993000	0.76245	2.814000	0.96858	0.655000	0.94253	CCT		0.413	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		5	168	0	0	0	1	0	5	168				
MDC1	9656	broad.mit.edu	37	6	30682868	30682868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30682868C>T	ENST00000376406.3	-	2	732	c.85G>A	c.(85-87)Gag>Aag	p.E29K	MDC1_ENST00000376405.2_Missense_Mutation_p.E29K|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	29	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CCTACTGGCTCCACGTTACAC	0.458								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(85-87)Gag>Aag	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							161.0	140.0	147.0					6																	30682868		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30682868C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.85G>A	6.37:g.30682868C>T	ENSP00000365588:p.Glu29Lys					MDC1_ENST00000376405.2_Missense_Mutation_p.E29K	p.E29K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			2	732	-			29			Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.85G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588737	0.28357	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000435797;ENST00000452213;ENST00000416571;ENST00000425072;ENST00000422266	T;T	0.03663	3.9;3.85	5.22	4.34	0.51931	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.	.	.	.	T	0.01124	0.0037	L	0.29908	0.895	0.32455	N	0.544908	P	0.35612	0.512	B	0.21151	0.033	T	0.51100	-0.8748	9	0.54805	T	0.06	-7.0726	11.1637	0.48531	0.1841:0.8159:0.0:0.0	.	29	Q14676	MDC1_HUMAN	K	29	ENSP00000365588:E29K;ENSP00000365587:E29K	ENSP00000365587:E29K	E	-	1	0	MDC1	30790847	0.832000	0.29368	0.760000	0.31359	0.029000	0.11900	1.347000	0.33975	1.164000	0.42652	-0.182000	0.12963	GAG		0.458	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		5	61	0	0	0	1	0	5	61				
FAM188A	80013	broad.mit.edu	37	10	15883483	15883483	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:15883483C>T	ENST00000277632.3	-	4	571	c.351G>A	c.(349-351)gaG>gaA	p.E117E	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	117					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TAGCAGTTTCCTCAGTTGTCT	0.378																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(349-351)gaG>gaA		family with sequence similarity 188, member A							98.0	96.0	97.0					10																	15883483		2203	4300	6503	SO:0001819	synonymous_variant	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15883483C>T	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.351G>A	10.37:g.15883483C>T						FAM188A_ENST00000477891.1_5'UTR	p.E117E	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			4	571	-			117					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Silent	SNP	ENST00000277632.3	37	c.351G>A	CCDS7110.1																																																																																				0.378	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		14	88	0	0	0	1	0	14	88				
IMPAD1	54928	broad.mit.edu	37	8	57892718	57892718	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:57892718C>T	ENST00000262644.4	-	2	684	c.426G>A	c.(424-426)gaG>gaA	p.E142E		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	142					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				ACAAGATAACCTCCTGATCAG	0.388																																						ENST00000262644.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(424-426)gaG>gaA		inositol monophosphatase domain containing 1							112.0	96.0	102.0					8																	57892718		2203	4300	6503	SO:0001819	synonymous_variant	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57892718C>T		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.426G>A	8.37:g.57892718C>T							p.E142E	NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN			2	684	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	142					Q6NVY7	Silent	SNP	ENST00000262644.4	37	c.426G>A	CCDS6169.1																																																																																				0.388	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		4	52	0	0	0	1	0	4	52				
ZMIZ2	83637	broad.mit.edu	37	7	44800150	44800150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44800150G>A	ENST00000309315.4	+	9	1321	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.D368N|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.D374N|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.D342N|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.D400N	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	400	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTCTTGCCTGATCTCAAGCC	0.592																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1198-1200)Gat>Aat		zinc finger, MIZ-type containing 2							175.0	183.0	180.0					7																	44800150		2134	4262	6396	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44800150G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1198G>A	7.37:g.44800150G>A	ENSP00000311778:p.Asp400Asn					ZMIZ2_ENST00000433667.1_Missense_Mutation_p.D368N|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.D400N|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.D374N|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.D342N	p.D400N	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			9	1321	+			400			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1198G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246881	0.95305	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000021	T	0.77130	0.4085	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.987;0.991	T	0.78814	-0.2056	10	0.66056	D	0.02	-21.7956	19.0583	0.93076	0.0:0.0:1.0:0.0	.	374;400;342	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	N	342;400;400;368;374;400	ENSP00000409648:D342N;ENSP00000311778:D400N;ENSP00000414723:D400N;ENSP00000396601:D368N;ENSP00000265346:D374N	ENSP00000265346:D374N	D	+	1	0	ZMIZ2	44766675	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.395000	0.97266	2.599000	0.87857	0.561000	0.74099	GAT		0.592	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		21	141	0	0	0	1	0	21	141				
SLC26A9	115019	broad.mit.edu	37	1	205901853	205901853	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:205901853C>T	ENST00000367135.3	-	4	466	c.353G>A	c.(352-354)gGg>gAg	p.G118E	SLC26A9_ENST00000340781.4_Missense_Mutation_p.G118E|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Missense_Mutation_p.G118E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	118					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTGAACACCCCCCAGGAAGAA	0.607																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(352-354)gGg>gAg		solute carrier family 26 (anion exchanger), member 9							67.0	61.0	63.0					1																	205901853		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205901853C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.353G>A	1.37:g.205901853C>T	ENSP00000356103:p.Gly118Glu					SLC26A9_ENST00000367134.2_Missense_Mutation_p.G118E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.G118E	p.G118E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		4	466	-	Breast(84;0.201)		118					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.353G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693418	0.88735	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.97256	-4.31;-4.31;-4.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98718	1.0707	10	0.87932	D	0	.	18.7862	0.91955	0.0:1.0:0.0:0.0	.	118;118	Q7LBE3;B1AVM8	S26A9_HUMAN;.	E	118	ENSP00000341682:G118E;ENSP00000356103:G118E;ENSP00000356102:G118E	ENSP00000341682:G118E	G	-	2	0	SLC26A9	204168476	1.000000	0.71417	0.998000	0.56505	0.735000	0.41995	7.354000	0.79424	2.540000	0.85666	0.650000	0.86243	GGG		0.607	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		12	23	0	0	0	1	0	12	23				
KLHL34	257240	broad.mit.edu	37	X	21675191	21675191	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:21675191C>T	ENST00000379499.2	-	1	1257	c.716G>A	c.(715-717)gGc>gAc	p.G239D		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	239						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GAGGCCAGAGCCCGAGTACAC	0.677																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(715-717)gGc>gAc		kelch-like family member 34							18.0	18.0	18.0					X																	21675191		2197	4287	6484	SO:0001583	missense	257240							g.chrX:21675191C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.716G>A	X.37:g.21675191C>T	ENSP00000368813:p.Gly239Asp						p.G239D	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1257	-			239						Missense_Mutation	SNP	ENST00000379499.2	37	c.716G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	0.088	-1.172494	0.01646	.	.	ENSG00000185915	ENST00000379499	T	0.72051	-0.62	4.65	4.65	0.58169	.	0.558516	0.18611	N	0.136142	T	0.45155	0.1328	N	0.08118	0	0.40138	D	0.976792	P	0.48230	0.907	B	0.41764	0.366	T	0.37776	-0.9691	10	0.19590	T	0.45	.	4.9108	0.13821	0.0:0.7103:0.0:0.2897	.	239	Q8N239	KLH34_HUMAN	D	239	ENSP00000368813:G239D	ENSP00000368813:G239D	G	-	2	0	KLHL34	21585112	1.000000	0.71417	0.436000	0.26797	0.093000	0.18481	2.645000	0.46621	2.145000	0.66743	0.422000	0.28245	GGC		0.677	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		7	11	0	0	0	1	0	7	11				
METTL12	751071	broad.mit.edu	37	11	62433409	62433409	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62433409C>T	ENST00000532971.1	+	2	315	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000431002.2_Intron|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000525675.1_5'Flank|SNORA57_ENST00000383870.1_RNA|METTL12_ENST00000398922.2_3'UTR	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	20						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GACGTGCCGCCCCTTTGCGGG	0.617																																						ENST00000532971.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(58-60)Ccc>Tcc		methyltransferase like 12							42.0	42.0	42.0					11																	62433409		1947	4133	6080	SO:0001583	missense	751071					mitochondrion	methyltransferase activity	g.chr11:62433409C>T	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.58C>T	11.37:g.62433409C>T	ENSP00000431287:p.Pro20Ser					C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_3'UTR	p.P20S	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN			2	315	+			20					B7Z4C1	Missense_Mutation	SNP	ENST00000532971.1	37	c.58C>T	CCDS41657.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.482843	0.26598	.	.	ENSG00000214756	ENST00000532971	T	0.42131	0.98	4.07	-2.68	0.06041	.	.	.	.	.	T	0.21509	0.0518	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.16928	-1.0386	9	0.49607	T	0.09	-2.727	5.4407	0.16507	0.542:0.1644:0.2936:0.0	.	20	A8MUP2	MTL12_HUMAN	S	20	ENSP00000431287:P20S	ENSP00000431287:P20S	P	+	1	0	METTL12	62189985	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.775000	0.04679	-0.538000	0.06281	-0.467000	0.05162	CCC		0.617	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1	NM_001043229		5	53	0	0	0	1	0	5	53				
OLFM2	93145	broad.mit.edu	37	19	9965171	9965171	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	OLFM2_ENST00000590841.1_Silent_p.P274P|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642																																						ENST00000264833.4																			1	Substitution - coding silent(1)	p.P352P(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1054-1056)ccG>ccA		olfactomedin 2							71.0	67.0	69.0					19																	9965171		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9965171C>T	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.1056G>A	19.37:g.9965171C>T						OLFM2_ENST00000590841.1_Silent_p.P274P	p.P352P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1241	-			352			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.1056G>A	CCDS12221.1																																																																																				0.642	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			4	69	0	0	0	1	0	4	69				
ASB4	51666	broad.mit.edu	37	7	95167057	95167057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:95167057G>A	ENST00000325885.5	+	5	1338	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	423	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AGAGCCAGAGGGAATTATTTA	0.393																																						ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(1267-1269)Gga>Aga		ankyrin repeat and SOCS box containing 4							105.0	100.0	102.0					7																	95167057		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95167057G>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1267G>A	7.37:g.95167057G>A	ENSP00000321388:p.Gly423Arg						p.G423R	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	1338	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		423			SOCS box.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1267G>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316234	0.81469	.	.	ENSG00000005981	ENST00000325885	T	0.50813	0.73	4.96	4.96	0.65561	.	0.055577	0.64402	D	0.000001	T	0.70168	0.3193	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74417	-0.3672	10	0.87932	D	0	-21.4584	18.6112	0.91285	0.0:0.0:1.0:0.0	.	423	Q9Y574	ASB4_HUMAN	R	423	ENSP00000321388:G423R	ENSP00000321388:G423R	G	+	1	0	ASB4	95004993	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.775000	0.85489	2.471000	0.83476	0.591000	0.81541	GGA		0.393	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		16	74	0	0	0	1	0	16	74				
CUBN	8029	broad.mit.edu	37	10	16981106	16981106	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:16981106G>A	ENST00000377833.4	-	38	5654	c.5589C>T	c.(5587-5589)gtC>gtT	p.V1863V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1863	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGAGAGGCGACTTTCCCAT	0.408																																						ENST00000377833.4																			0				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						c.(5587-5589)gtC>gtT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						140.0	127.0	131.0					10																	16981106		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16981106G>A	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.5589C>T	10.37:g.16981106G>A							p.V1863V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			38	5654	-			1863			CUB 13.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.5589C>T	CCDS7113.1																																																																																				0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	89	0	0	0	1	0	6	89				
TMEM91	641649	broad.mit.edu	37	19	41888731	41888731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:41888731C>T	ENST00000392002.2	+	3	925	c.265C>T	c.(265-267)Cca>Tca	p.P89S	TMEM91_ENST00000436170.2_Missense_Mutation_p.P89S|TMEM91_ENST00000356385.4_Missense_Mutation_p.P89S|TMEM91_ENST00000447302.2_Missense_Mutation_p.P89S|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000542945.1_Missense_Mutation_p.P89S|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000413014.2_Missense_Mutation_p.P89S|TMEM91_ENST00000544232.1_Missense_Mutation_p.P89S|TMEM91_ENST00000539627.1_Missense_Mutation_p.P89S|TMEM91_ENST00000604123.1_Missense_Mutation_p.P146S	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	89					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						CCGTCTTTCACCATTTCTACC	0.572																																						ENST00000539627.1																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(265-267)Cca>Tca		transmembrane protein 91							435.0	440.0	438.0					19																	41888731		2126	4231	6357	SO:0001583	missense	641649							g.chr19:41888731C>T	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.265C>T	19.37:g.41888731C>T	ENSP00000375859:p.Pro89Ser					TMEM91_ENST00000447302.2_Missense_Mutation_p.P89S|TMEM91_ENST00000436170.2_Missense_Mutation_p.P89S|TMEM91_ENST00000356385.4_Missense_Mutation_p.P89S|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000413014.2_Missense_Mutation_p.P89S|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000392002.2_Missense_Mutation_p.P89S|TMEM91_ENST00000544232.1_Missense_Mutation_p.P89S|TMEM91_ENST00000542945.1_Missense_Mutation_p.P89S|TMEM91_ENST00000604123.1_Missense_Mutation_p.P146S	p.P89S							3	586	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.265C>T	CCDS42571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.27|13.27	2.188536|2.188536	0.38609|0.38609	.|.	.|.	ENSG00000142046|ENSG00000142046	ENST00000539627;ENST00000413014;ENST00000392002;ENST00000436170;ENST00000447302;ENST00000544232;ENST00000542945;ENST00000537354;ENST00000342187;ENST00000356385|ENST00000546362;ENST00000535712	D|.	0.95756|.	-3.8|.	4.52|4.52	4.52|4.52	0.55395|0.55395	.|.	.|.	.|.	.|.	.|.	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.41824|0.41824	1.3|1.3	0.28305|0.28305	N|N	0.922955|0.922955	D;D;D;D;P;D|.	0.61080|.	0.958;0.958;0.958;0.977;0.878;0.989|.	P;P;P;P;P;P|.	0.59357|.	0.802;0.802;0.802;0.856;0.73;0.848|.	T|T	0.24764|0.24764	-1.0151|-1.0151	9|5	0.52906|.	T|.	0.07|.	.|.	10.2256|10.2256	0.43222|0.43222	0.198:0.802:0.0:0.0|0.198:0.802:0.0:0.0	.|.	89;89;89;89;89;89|.	C9J9D1;C9JZ62;C9K046;Q6P434;Q6ZNR0;F5GWC9|.	.;.;.;.;TMM91_HUMAN;.|.	S|I	89|36;9	ENSP00000375859:P89S|.	ENSP00000345589:P89S|.	P|T	+|+	1|2	0|0	TMEM91|TMEM91	46580571|46580571	0.445000|0.445000	0.25657|0.25657	0.807000|0.807000	0.32361|0.32361	0.164000|0.164000	0.22412|0.22412	1.557000|1.557000	0.36299|0.36299	2.507000|2.507000	0.84556|0.84556	0.505000|0.505000	0.49811|0.49811	CCA|ACC		0.572	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			33	505	0	0	0	1	0	33	505				
ADNP2	22850	broad.mit.edu	37	18	77895834	77895834	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:77895834G>A	ENST00000262198.4	+	4	2993	c.2538G>A	c.(2536-2538)ggG>ggA	p.G846G		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	846					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCCTGGCTGGGATACACTCCA	0.567																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(2536-2538)ggG>ggA		ADNP homeobox 2							60.0	61.0	61.0					18																	77895834		2203	4300	6503	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895834G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2538G>A	18.37:g.77895834G>A							p.G846G	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2993	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	846					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.2538G>A	CCDS32853.1																																																																																				0.567	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		4	23	0	0	0	1	0	4	23				
KIF1B	23095	broad.mit.edu	37	1	10364467	10364467	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:10364467C>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.S1075F|KIF1B_ENST00000377093.4_Missense_Mutation_p.S1075F			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCATTAAACTCCCACAGTGGT	0.502																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3223-3225)tCc>tTc		kinesin family member 1B							99.0	97.0	98.0					1																	10364467		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364467C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7163C>T	1.37:g.10364467C>T						KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.S1075F|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron	p.S1075F	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3377	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3224C>T		.	.	.	.	.	.	.	.	.	.	C	13.65	2.299594	0.40694	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.75154	-0.91;-0.91	5.72	4.79	0.61399	.	.	.	.	.	T	0.68668	0.3026	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66360	-0.5943	8	0.72032	D	0.01	.	13.5541	0.61749	0.0:0.9218:0.0:0.0782	.	1075	O60333-3	.	F	1075	ENSP00000366297:S1075F;ENSP00000366287:S1075F	ENSP00000366287:S1075F	S	+	2	0	KIF1B	10287054	0.858000	0.29795	0.685000	0.30070	0.973000	0.67179	3.574000	0.53863	1.348000	0.45733	0.655000	0.94253	TCC		0.502	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			42	77	0	0	0	1	0	42	77				
POU6F2	11281	broad.mit.edu	37	7	39472808	39472808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:39472808G>A	ENST00000403058.1	+	8	1313	c.1159G>A	c.(1159-1161)Gtc>Atc	p.V387I	POU6F2_ENST00000559001.1_Missense_Mutation_p.V332I|POU6F2_ENST00000518318.2_Missense_Mutation_p.V387I	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	387	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCGCCACAGTCATTGGGAA	0.612																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1159-1161)Gtc>Atc		POU class 6 homeobox 2							125.0	95.0	105.0					7																	39472808		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39472808G>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1159G>A	7.37:g.39472808G>A	ENSP00000384004:p.Val387Ile					POU6F2_ENST00000403058.1_Missense_Mutation_p.V387I|POU6F2_ENST00000559001.1_Missense_Mutation_p.V332I	p.V387I			P78424	PO6F2_HUMAN			7	1201	+			387			Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.1159G>A	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905320	0.72868	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.85773	-1.99;-2.03	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	D	0.84284	0.5438	L	0.49126	1.545	0.43039	D	0.994625	P	0.51351	0.944	B	0.43950	0.437	T	0.81927	-0.0709	10	0.26408	T	0.33	.	20.4097	0.99016	0.0:0.0:1.0:0.0	.	387	P78424	PO6F2_HUMAN	I	387	ENSP00000384004:V387I;ENSP00000430514:V387I	ENSP00000384004:V387I	V	+	1	0	POU6F2	39439333	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	7.831000	0.86748	2.828000	0.97474	0.650000	0.86243	GTC		0.612	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		24	73	0	0	0	1	0	24	73				
ERCC6	2074	broad.mit.edu	37	10	50684260	50684260	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:50684260C>T	ENST00000355832.5	-	12	2461		c.e12+1		ERCC6_ENST00000542458.1_Splice_Site	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGCTGACCTGCATCTCT	0.403								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e12+1	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							57.0	56.0	56.0					10																	50684260		2203	4300	6503	SO:0001630	splice_region_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50684260C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2382+1G>A	10.37:g.50684260C>T						ERCC6_ENST00000542458.1_Splice_Site		NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			12	2461	-								D3DX94|Q5W0L9	Splice_Site	SNP	ENST00000355832.5	37		CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787679	0.70337	.	.	ENSG00000225830	ENST00000355832;ENST00000539110;ENST00000542458	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9609	0.92677	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERCC6	50354266	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.625000	0.83145	2.489000	0.83994	0.555000	0.69702	.		0.403	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	Intron	6	30	0	0	0	1	0	6	30				
GDPD3	79153	broad.mit.edu	37	16	30119720	30119720	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30119720G>A	ENST00000406256.3	-	8	1118	c.741C>T	c.(739-741)aaC>aaT	p.N247N	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	247	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CCAATAACTGGTTCAGGCAAG	0.582																																						ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(739-741)aaC>aaT		glycerophosphodiester phosphodiesterase domain containing 3							176.0	157.0	164.0					16																	30119720		2197	4300	6497	SO:0001819	synonymous_variant	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30119720G>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.741C>T	16.37:g.30119720G>A						RP11-455F5.4_ENST00000566190.1_RNA	p.N247N	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			8	1118	-			247			GDPD.		Q9H652	Silent	SNP	ENST00000406256.3	37	c.741C>T	CCDS10671.2																																																																																				0.582	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		13	152	0	0	0	1	0	13	152				
MRPS24	64951	broad.mit.edu	37	7	43906557	43906557	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:43906557G>A	ENST00000317534.5	-	4	306	c.245C>T	c.(244-246)gCc>gTc	p.A82V	MRPS24_ENST00000467084.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	82					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCGCTCTGCGGCATGGTCCTC	0.557																																						ENST00000317534.5																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(244-246)gCc>gTc		mitochondrial ribosomal protein S24							61.0	58.0	59.0					7																	43906557		2203	4300	6503	SO:0001583	missense	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43906557G>A	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.245C>T	7.37:g.43906557G>A	ENSP00000318158:p.Ala82Val					MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR	p.A82V	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN			4	306	-			82					A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	ENST00000317534.5	37	c.245C>T	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620338	0.87460	.	.	ENSG00000062582	ENST00000317534	T	0.45668	0.89	5.24	5.24	0.73138	.	0.049409	0.85682	D	0.000000	T	0.55847	0.1946	M	0.73598	2.24	0.80722	D	1	D	0.57571	0.98	P	0.52514	0.701	T	0.56565	-0.7958	10	0.36615	T	0.2	.	16.3198	0.82945	0.0:0.0:1.0:0.0	.	82	Q96EL2	RT24_HUMAN	V	82	ENSP00000318158:A82V	ENSP00000318158:A82V	A	-	2	0	MRPS24	43873082	1.000000	0.71417	0.733000	0.30861	0.869000	0.49853	7.056000	0.76662	2.449000	0.82847	0.655000	0.94253	GCC		0.557	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		22	80	0	0	0	1	0	22	80				
ZNF365	22891	broad.mit.edu	37	10	64136261	64136261	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:64136261C>T	ENST00000395254.3	+	2	589	c.309C>T	c.(307-309)agC>agT	p.S103S	ZNF365_ENST00000395255.3_Silent_p.S103S|ZNF365_ENST00000410046.3_Silent_p.S103S|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	62										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACTTGTACAGCATTTCACATG	0.498																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(307-309)agC>agT		zinc finger protein 365							125.0	109.0	115.0					10																	64136261		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64136261C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.309C>T	10.37:g.64136261C>T						ZNF365_ENST00000410046.3_Silent_p.S103S|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Silent_p.S103S	p.S103S	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	589	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		62						Silent	SNP	ENST00000395254.3	37	c.309C>T	CCDS31209.1																																																																																				0.498	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		15	53	0	0	0	1	0	15	53				
GPSM2	29899	broad.mit.edu	37	1	109444476	109444476	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:109444476C>T	ENST00000406462.2	+	9	1635	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	GPSM2_ENST00000264126.3_Missense_Mutation_p.L288F|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	288					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TTGTTACAGTCTTGGAAATAC	0.358																																						ENST00000406462.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14						c.(862-864)Ctt>Ttt		G-protein signaling modulator 2							89.0	86.0	87.0					1																	109444476		2203	4300	6503	SO:0001583	missense	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109444476C>T	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.862C>T	1.37:g.109444476C>T	ENSP00000385510:p.Leu288Phe					GPSM2_ENST00000264126.3_Missense_Mutation_p.L288F|AKNAD1_ENST00000357393.4_Intron	p.L288F			P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	9	1635	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	288					Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	c.862C>T	CCDS792.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649817	0.87958	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	D;D	0.96651	-4.08;-4.08	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98931	1.0787	10	0.87932	D	0	-5.8617	20.2723	0.98479	0.0:1.0:0.0:0.0	.	288	P81274	GPSM2_HUMAN	F	288	ENSP00000385510:L288F;ENSP00000264126:L288F	ENSP00000264126:L288F	L	+	1	0	GPSM2	109245999	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.818000	0.86416	2.793000	0.96121	0.563000	0.77884	CTT		0.358	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		4	51	0	0	0	1	0	4	51				
NUAK1	9891	broad.mit.edu	37	12	106464648	106464648	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:106464648G>A	ENST00000261402.2	-	6	2115	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCATAAACAAGAGTGTAAAGC	0.527																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(736-738)Ctt>Ttt		NUAK family, SNF1-like kinase, 1							94.0	85.0	88.0					12																	106464648		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106464648G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.736C>T	12.37:g.106464648G>A	ENSP00000261402:p.Leu246Phe						p.L246F	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			6	2115	-			246			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.736C>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489879	0.84962	.	.	ENSG00000074590	ENST00000261402;ENST00000548902	T;T	0.34859	1.34;1.34	4.59	4.59	0.56863	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	0.47093	D	0.000258	T	0.63604	0.2525	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69888	-0.5023	10	0.66056	D	0.02	.	17.7838	0.88531	0.0:0.0:1.0:0.0	.	246	O60285	NUAK1_HUMAN	F	246;115	ENSP00000261402:L246F;ENSP00000448288:L115F	ENSP00000261402:L246F	L	-	1	0	NUAK1	104988778	1.000000	0.71417	0.088000	0.20740	0.951000	0.60555	6.719000	0.74718	2.279000	0.76181	0.561000	0.74099	CTT		0.527	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		3	41	0	0	0	1	0	3	41				
GRK7	131890	broad.mit.edu	37	3	141499479	141499479	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:141499479G>A	ENST00000264952.2	+	2	1013	c.876G>A	c.(874-876)cgG>cgA	p.R292R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACATGAGCCGGGTGATCTTTT	0.552																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(874-876)cgG>cgA		G protein-coupled receptor kinase 7							98.0	91.0	93.0					3																	141499479		2203	4300	6503	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499479G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.876G>A	3.37:g.141499479G>A							p.R292R	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			2	1013	+			292			Protein kinase.			Silent	SNP	ENST00000264952.2	37	c.876G>A	CCDS3120.1																																																																																				0.552	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		6	41	0	0	0	1	0	6	41				
LRRTM1	347730	broad.mit.edu	37	2	80530429	80530429	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:80530429G>A	ENST00000295057.3	-	2	1172	c.516C>T	c.(514-516)gcC>gcT	p.A172A	CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.A172A|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	172					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAAACTGGATGGCGTTGGCCC	0.612										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(514-516)gcC>gcT		leucine rich repeat transmembrane neuronal 1							63.0	68.0	66.0					2																	80530429		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530429G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.516C>T	2.37:g.80530429G>A		HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Silent_p.A172A|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.A172A	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1172	-			172					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.516C>T	CCDS1966.1																																																																																				0.612	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		5	53	0	0	0	1	0	5	53				
TMEM135	65084	broad.mit.edu	37	11	86947682	86947682	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:86947682C>T	ENST00000305494.5	+	6	504	c.465C>T	c.(463-465)gtC>gtT	p.V155V	TMEM135_ENST00000532959.1_Silent_p.V26V|TMEM135_ENST00000340353.7_Silent_p.V133V|TMEM135_ENST00000535167.1_Silent_p.V16V	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	155					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGTTACAGGTCCTTTTGTTTT	0.318																																						ENST00000340353.7																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(397-399)gtC>gtT		transmembrane protein 135							274.0	258.0	263.0					11																	86947682		2200	4298	6498	SO:0001819	synonymous_variant	65084					integral to membrane		g.chr11:86947682C>T	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.465C>T	11.37:g.86947682C>T						TMEM135_ENST00000535167.1_Silent_p.V16V|TMEM135_ENST00000532959.1_Silent_p.V26V|TMEM135_ENST00000305494.5_Silent_p.V155V	p.V133V	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN			5	601	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	155					Q6AW91|Q8ND01|Q9H6M3	Silent	SNP	ENST00000305494.5	37	c.399C>T	CCDS8280.1																																																																																				0.318	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		5	83	0	0	0	1	0	5	83				
ZNF292	23036	broad.mit.edu	37	6	87967994	87967994	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:87967994C>T	ENST00000369577.3	+	8	4690	c.4647C>T	c.(4645-4647)aaC>aaT	p.N1549N	ZNF292_ENST00000339907.4_Silent_p.N1544N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1549						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGCTGACCAACCAGAATAGGA	0.448																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(4645-4647)aaC>aaT		zinc finger protein 292							61.0	62.0	62.0					6																	87967994		2035	4189	6224	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967994C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4647C>T	6.37:g.87967994C>T						ZNF292_ENST00000339907.4_Silent_p.N1544N	p.N1549N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	4690	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1549					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.4647C>T	CCDS47457.1																																																																																				0.448	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	16	0	0	0	1	0	8	16				
CR1	1378	broad.mit.edu	37	1	207753637	207753637	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207753637G>A	ENST00000367049.4	+	30	4989	c.4989G>A	c.(4987-4989)caG>caA	p.Q1663Q	CR1_ENST00000367052.1_Silent_p.Q1213Q|CR1_ENST00000367051.1_Silent_p.Q1213Q|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Silent_p.Q1213Q|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.Q1213Q	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1213	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAAGCCATCAGGACAACTTTT	0.542																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4987-4989)caG>caA		complement component (3b/4b) receptor 1 (Knops blood group)							128.0	130.0	129.0					1																	207753637		1976	4161	6137	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207753637G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4989G>A	1.37:g.207753637G>A						RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Silent_p.Q1213Q|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.Q1213Q|CR1_ENST00000367051.1_Silent_p.Q1213Q|CR1_ENST00000367052.1_Silent_p.Q1213Q	p.Q1663Q	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			30	4989	+			1213			Sushi 26.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.4989G>A	CCDS44308.1																																																																																				0.542	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	144	0	0	0	1	0	4	144				
SUPT16H	11198	broad.mit.edu	37	14	21837446	21837446	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21837446C>T	ENST00000216297.2	-	6	1037	c.699G>A	c.(697-699)ggG>ggA	p.G233G		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	233					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|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)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGGGTCTGCCCCAGCAAGGT	0.423																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(697-699)ggG>ggA		suppressor of Ty 16 homolog (S. cerevisiae)							113.0	115.0	114.0					14																	21837446		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21837446C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.699G>A	14.37:g.21837446C>T							p.G233G	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	6	1037	-	all_cancers(95;0.00115)		233					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.699G>A	CCDS9569.1																																																																																				0.423	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			10	94	0	0	0	1	0	10	94				
RNF213	57674	broad.mit.edu	37	17	78320674	78320674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:78320674G>A	ENST00000582970.1	+	29	8682	c.8539G>A	c.(8539-8541)Ggg>Agg	p.G2847R	RNF213_ENST00000508628.2_Missense_Mutation_p.G2896R|RNF213_ENST00000336301.6_Missense_Mutation_p.G920R	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2847					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGATGAGGTGGGGCTGGCGGA	0.607																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(8539-8541)Ggg>Agg		ring finger protein 213							59.0	54.0	56.0					17																	78320674		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78320674G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8539G>A	17.37:g.78320674G>A	ENSP00000464087:p.Gly2847Arg					RNF213_ENST00000336301.6_Missense_Mutation_p.G920R|RNF213_ENST00000508628.2_Missense_Mutation_p.G2896R	p.G2847R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	8682	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8539G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316343	0.40996	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.32272	1.46	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);	0.130094	0.52532	D	0.000079	T	0.66982	0.2845	M	0.90870	3.155	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.73675	-0.3908	10	0.87932	D	0	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	920	Q63HN8	RN213_HUMAN	R	2847;2896;920	ENSP00000338218:G920R	ENSP00000338218:G920R	G	+	1	0	RNF213	75935269	1.000000	0.71417	0.368000	0.25939	0.570000	0.35934	9.712000	0.98738	2.751000	0.94390	0.563000	0.77884	GGG		0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		3	30	0	0	0	1	0	3	30				
SPTBN1	6711	broad.mit.edu	37	2	54871561	54871561	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:54871561C>T	ENST00000356805.4	+	20	4388	c.4107C>T	c.(4105-4107)acC>acT	p.T1369T	SPTBN1_ENST00000333896.5_Silent_p.T1356T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1369					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AATCCACTACCCAGACAAAGG	0.493																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(4066-4068)acC>acT		spectrin, beta, non-erythrocytic 1							74.0	76.0	76.0					2																	54871561		2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54871561C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4107C>T	2.37:g.54871561C>T						SPTBN1_ENST00000356805.4_Silent_p.T1369T	p.T1356T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		19	4453	+			1369					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.4068C>T	CCDS33198.1																																																																																				0.493	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			15	78	0	0	0	1	0	15	78				
C2orf54	79919	broad.mit.edu	37	2	241835023	241835023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:241835023G>A	ENST00000388934.4	-	1	550	c.392C>T	c.(391-393)gCc>gTc	p.A131V		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	131										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTCCGAGGAGGCAGTGAAGGT	0.627																																						ENST00000388934.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(391-393)gCc>gTc		chromosome 2 open reading frame 54							38.0	43.0	41.0					2																	241835023		2157	4246	6403	SO:0001583	missense	79919							g.chr2:241835023G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.392C>T	2.37:g.241835023G>A	ENSP00000373586:p.Ala131Val						p.A131V	NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	1	550	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	131					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.392C>T	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.131690	0.00338	.	.	ENSG00000172478	ENST00000388934;ENST00000414499	T;T	0.11495	2.77;2.77	5.3	3.42	0.39159	.	0.885835	0.09460	N	0.799233	T	0.06826	0.0174	N	0.20685	0.6	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.44360	-0.9333	10	0.24483	T	0.36	1.4268	4.3029	0.10933	0.3456:0.1628:0.4916:0.0	.	131	Q08AI8	CB054_HUMAN	V	131	ENSP00000373586:A131V;ENSP00000390935:A131V	ENSP00000373586:A131V	A	-	2	0	C2orf54	241483696	0.009000	0.17119	0.034000	0.17996	0.036000	0.12997	1.345000	0.33953	0.554000	0.29061	0.561000	0.74099	GCC		0.627	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		12	20	0	0	0	1	0	12	20				
DDX26B	203522	broad.mit.edu	37	X	134679355	134679355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:134679355G>A	ENST00000370752.4	+	3	531	c.197G>A	c.(196-198)tGg>tAg	p.W66*	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	66	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCTGGTTGGAAGGAAAAT	0.348																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(196-198)tGg>tAg		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							78.0	76.0	77.0					X																	134679355		2203	4300	6503	SO:0001587	stop_gained	203522							g.chrX:134679355G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.197G>A	X.37:g.134679355G>A	ENSP00000359788:p.Trp66*					DDX26B_ENST00000493637.1_3'UTR	p.W66*	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			3	531	+	Acute lymphoblastic leukemia(192;6.56e-05)		66			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Nonsense_Mutation	SNP	ENST00000370752.4	37	c.197G>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	39	7.607739	0.98387	.	.	ENSG00000165359	ENST00000370752	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8296	17.7163	0.88338	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000359788:W66X	W	+	2	0	DDX26B	134507021	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.401000	0.81631	0.600000	0.82982	TGG		0.348	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		6	83	0	0	0	1	0	6	83				
HPS5	11234	broad.mit.edu	37	11	18327860	18327860	+	Missense_Mutation	SNP	C	C	T	rs139112919		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:18327860C>T	ENST00000349215.3	-	7	923	c.646G>A	c.(646-648)Gat>Aat	p.D216N	HPS5_ENST00000531848.1_Missense_Mutation_p.D102N|HPS5_ENST00000396253.3_Missense_Mutation_p.D102N|HPS5_ENST00000438420.2_Missense_Mutation_p.D102N	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	216					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATTCTCCATCTCTTTCCTTG	0.413									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(304-306)Gat>Aat		Hermansky-Pudlak syndrome 5		C	ASN/ASP,ASN/ASP,ASN/ASP	1,4397	2.1+/-5.4	0,1,2198	83.0	82.0	82.0		304,646,304	3.3	1.0	11	dbSNP_134	82	0,8586		0,0,4293	no	missense,missense,missense	HPS5	NM_007216.3,NM_181507.1,NM_181508.1	23,23,23	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	102/1016,216/1130,102/1016	18327860	1,12983	2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18327860C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.646G>A	11.37:g.18327860C>T	ENSP00000265967:p.Asp216Asn					HPS5_ENST00000531848.1_Missense_Mutation_p.D102N|HPS5_ENST00000438420.2_Missense_Mutation_p.D102N|HPS5_ENST00000349215.3_Missense_Mutation_p.D216N	p.D102N	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			6	766	-			216					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.304G>A	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606080	0.46527	2.27E-4	0.0	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.58210	0.35;0.35;0.36;1.42	5.17	3.26	0.37387	.	0.222687	0.52532	D	0.000068	T	0.43523	0.1251	L	0.40543	1.245	0.54753	D	0.999989	B	0.22683	0.073	B	0.25291	0.059	T	0.27157	-1.0082	10	0.35671	T	0.21	.	12.2625	0.54660	0.1344:0.7364:0.1292:0.0	.	216	Q9UPZ3	HPS5_HUMAN	N	102;102;216;102	ENSP00000379552:D102N;ENSP00000399590:D102N;ENSP00000265967:D216N;ENSP00000431758:D102N	ENSP00000265967:D216N	D	-	1	0	HPS5	18284436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.675000	0.54605	0.716000	0.32124	0.585000	0.79938	GAT		0.413	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		19	12	0	0	0	1	0	19	12				
SIGLEC6	946	broad.mit.edu	37	19	52023485	52023485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52023485C>T	ENST00000425629.3	-	8	1367	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R346K|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.G389S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R335K|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000359982.4_Silent_p.Q388Q|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.G353S	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	405					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GAAACTATGCCTGTCTGGAAC	0.507																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(1165-1167)Ggc>Agc		sialic acid binding Ig-like lectin 6							184.0	175.0	178.0					19																	52023485		1959	4144	6103	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023485C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1213G>A	19.37:g.52023485C>T	ENSP00000401502:p.Gly405Ser					CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.G353S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.G405S|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R335K|SIGLEC6_ENST00000359982.4_Silent_p.Q388Q|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R346K	p.G389S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	7	1233	-		all_neural(266;0.0199)	405					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.1165G>A	CCDS12834.3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.168|0.168	-1.074297|-1.074297	0.01903|0.01903	.|.	.|.	ENSG00000105492|ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458|ENST00000343300	T;T;T|T	0.50277|0.48201	0.91;1.18;0.75|0.82	2.57|2.57	-5.04|-5.04	0.02964|0.02964	.|.	.|.	.|.	.|.	.|.	T|T	0.17408|0.17408	0.0418|0.0418	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;P;P|B;B	0.35433|0.06786	0.067;0.469;0.501|0.001;0.001	B;B;B|B;B	0.30646|0.06405	0.025;0.076;0.118|0.002;0.002	T|T	0.25847|0.25847	-1.0120|-1.0120	8|8	0.21014|0.09338	T|T	0.42|0.73	.|.	0.9044|0.9044	0.01281|0.01281	0.1685:0.2557:0.3339:0.2419|0.1685:0.2557:0.3339:0.2419	.|.	353;389;405|335;346	C9JBE5;O43699-3;O43699|O43699-4;O43699-2	.;.;SIGL6_HUMAN|.;.	S|K	378;389;405;353|346	ENSP00000344064:G378S;ENSP00000401502:G405S;ENSP00000410679:G353S|ENSP00000345907:R346K	ENSP00000344064:G378S|ENSP00000345907:R346K	G|R	-|-	1|2	0|0	SIGLEC6|SIGLEC6	56715297|56715297	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.032000|-0.032000	0.12266|0.12266	-1.063000|-1.063000	0.03177|0.03177	-0.985000|-0.985000	0.02557|0.02557	GGC|AGG		0.507	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		6	168	0	0	0	1	0	6	168				
RAP2C	57826	broad.mit.edu	37	X	131351118	131351118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:131351118C>T	ENST00000342983.2	-	2	925	c.179G>A	c.(178-180)gGa>gAa	p.G60E	RAP2C_ENST00000460462.1_5'UTR|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.G60E	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	60					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CTGCTCAGTTCCTGCGGTGTC	0.458																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(178-180)gGa>gAa		RAP2C, member of RAS oncogene family							113.0	108.0	109.0					X																	131351118		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131351118C>T	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.179G>A	X.37:g.131351118C>T	ENSP00000340274:p.Gly60Glu					RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.G60E	p.G60E	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			2	925	-	Acute lymphoblastic leukemia(192;0.000127)		60					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.179G>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	c	32	5.176038	0.94846	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	D;D	0.93659	-3.26;-3.26	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99879	1.1109	10	0.87932	D	0	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	60	Q9Y3L5	RAP2C_HUMAN	E	60	ENSP00000340274:G60E;ENSP00000359911:G60E	ENSP00000340274:G60E	G	-	2	0	RAP2C	131178799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.677000	0.84024	2.236000	0.73375	0.502000	0.49764	GGA		0.458	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		58	101	0	0	0	1	0	58	101				
HNRNPD	3184	broad.mit.edu	37	4	83277817	83277817	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83277817G>A	ENST00000313899.7	-	7	1150	c.873C>T	c.(871-873)aaC>aaT	p.N291N	HNRNPD_ENST00000543098.1_Silent_p.N239N|HNRNPD_ENST00000541060.1_Silent_p.N137N|HNRNPD_ENST00000352301.4_Silent_p.N272N|HNRNPD_ENST00000508119.1_Intron|HNRNPD_ENST00000353341.4_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	291	Gly-rich.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TATATCCCTGGTTCCAGTTTT	0.398																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(871-873)aaC>aaT		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							149.0	141.0	144.0					4																	83277817		2203	4300	6503	SO:0001819	synonymous_variant	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83277817G>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.873C>T	4.37:g.83277817G>A						HNRNPD_ENST00000353341.4_Intron|HNRNPD_ENST00000541060.1_Silent_p.N137N|HNRNPD_ENST00000543098.1_Silent_p.N239N|HNRNPD_ENST00000352301.4_Silent_p.N272N|HNRNPD_ENST00000508119.1_Intron	p.N291N	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			7	1150	-			291			Gly-rich.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Silent	SNP	ENST00000313899.7	37	c.873C>T	CCDS3592.1																																																																																				0.398	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		27	71	0	0	0	1	0	27	71				
SMURF2	64750	broad.mit.edu	37	17	62568073	62568073	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:62568073C>T	ENST00000262435.9	-	10	1046	c.859G>A	c.(859-861)Gat>Aat	p.D287N	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	287					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTGCTAAGATCCCTGCAAAAA	0.403																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.e10-1		SMAD specific E3 ubiquitin protein ligase 2							65.0	62.0	63.0					17																	62568073		2203	4300	6503	SO:0001630	splice_region_variant	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62568073C>T	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.858-1G>A	17.37:g.62568073C>T						SMURF2_ENST00000578200.1_Intron	p.D287_splice	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		10	1046	-	Breast(5;1.32e-14)		287					Q52LL1|Q9H260	Splice_Site	SNP	ENST00000262435.9	37	c.857_splice	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430271	0.62844	.	.	ENSG00000108854	ENST00000262435	T	0.45668	0.89	5.51	5.51	0.81932	.	0.091656	0.64402	D	0.000001	T	0.59018	0.2163	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50320	-0.8842	10	0.26408	T	0.33	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	287	Q9HAU4	SMUF2_HUMAN	N	287	ENSP00000262435:D287N	ENSP00000262435:D287N	D	-	1	0	SMURF2	59998535	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.745000	0.85046	2.588000	0.87417	0.591000	0.81541	GAT		0.403	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739	Missense_Mutation	28	26	0	0	0	1	0	28	26				
UGCG	7357	broad.mit.edu	37	9	114691897	114691897	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:114691897C>T	ENST00000374279.3	+	6	1126	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	MIR4668_ENST00000582284.1_RNA|UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	226					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	AGCAGGAGGACTTATAGCTTT	0.378																																						ENST00000374279.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12						c.(676-678)Ctt>Ttt		UDP-glucose ceramide glucosyltransferase	Miglustat(DB00419)						197.0	185.0	189.0					9																	114691897		2203	4300	6503	SO:0001583	missense	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114691897C>T	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.676C>T	9.37:g.114691897C>T	ENSP00000363397:p.Leu226Phe					UGCG_ENST00000495085.1_3'UTR	p.L226F	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	6	1126	+			226					Q5T258	Missense_Mutation	SNP	ENST00000374279.3	37	c.676C>T	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937518	0.73557	.	.	ENSG00000148154	ENST00000374279	T	0.49720	0.77	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	L	0.39397	1.21	0.80722	D	1	D	0.54207	0.965	P	0.51777	0.679	T	0.18209	-1.0344	10	0.13108	T	0.6	.	11.8203	0.52235	0.0:0.8655:0.0:0.1345	.	226	Q16739	CEGT_HUMAN	F	226	ENSP00000363397:L226F	ENSP00000363397:L226F	L	+	1	0	UGCG	113731718	0.998000	0.40836	0.998000	0.56505	0.989000	0.77384	2.384000	0.44362	2.873000	0.98535	0.563000	0.77884	CTT		0.378	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		4	127	0	0	0	1	0	4	127				
CBFA2T2	9139	broad.mit.edu	37	20	32228272	32228272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:32228272G>A	ENST00000346541.3	+	11	1987	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	CBFA2T2_ENST00000342704.6_Missense_Mutation_p.D475N|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.D494N|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.D484N|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.D32N|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.D455N|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.D455N	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	484					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACCATAGCGGATGTCAAGCG	0.572																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1450-1452)Gat>Aat		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							70.0	66.0	68.0					20																	32228272		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32228272G>A	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1450G>A	20.37:g.32228272G>A	ENSP00000262653:p.Asp484Asn					CBFA2T2_ENST00000397800.1_Missense_Mutation_p.D455N|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.D475N|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.D484N|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.D32N|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.D494N	p.D484N	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			11	1987	+			484					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.1450G>A	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895272	0.91962	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.45276	0.9;0.91;0.9;0.91;1.49	5.84	5.84	0.93424	.	0.088970	0.85682	D	0.000000	T	0.53883	0.1824	L	0.42245	1.32	0.80722	D	1	P;D	0.55385	0.953;0.971	P;P	0.55749	0.631;0.783	T	0.50171	-0.8859	10	0.54805	T	0.06	-8.9672	20.1458	0.98076	0.0:0.0:1.0:0.0	.	484;475	O43439;F8W6D7	MTG8R_HUMAN;.	N	258;484;475;484;455;494;32	ENSP00000364428:D484N;ENSP00000345810:D475N;ENSP00000262653:D484N;ENSP00000380902:D455N;ENSP00000352622:D494N	ENSP00000345810:D475N	D	+	1	0	CBFA2T2	31691933	1.000000	0.71417	0.144000	0.22314	0.446000	0.32137	9.859000	0.99545	2.765000	0.95021	0.643000	0.83706	GAT		0.572	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		15	29	0	0	0	1	0	15	29				
COL5A2	1290	broad.mit.edu	37	2	189918194	189918194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:189918194C>T	ENST00000374866.3	-	38	2783	c.2509G>A	c.(2509-2511)Ggt>Agt	p.G837S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	837					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATTTTCACCTCGAGAACCC	0.348																																						ENST00000374866.3																			0				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						c.(2509-2511)Ggt>Agt		collagen, type V, alpha 2							55.0	57.0	56.0					2																	189918194		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189918194C>T	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.2509G>A	2.37:g.189918194C>T	ENSP00000364000:p.Gly837Ser						p.G837S	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		38	2783	-			837					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2509G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697571	0.88830	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99527	-6.09	5.86	5.86	0.93980	.	0.000000	0.53938	D	0.000041	D	0.99722	0.9892	H	0.95780	3.72	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.97110	0.998;1.0	D	0.97629	1.0141	9	.	.	.	.	20.1951	0.98241	0.0:1.0:0.0:0.0	.	477;837	Q5PR22;P05997	.;CO5A2_HUMAN	S	837;477	ENSP00000364000:G837S	.	G	-	1	0	COL5A2	189626439	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.449000	0.80643	2.780000	0.95670	0.585000	0.79938	GGT		0.348	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		13	35	0	0	0	1	0	13	35				
LIPA	3988	broad.mit.edu	37	10	91005445	91005445	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:91005445G>A	ENST00000336233.5	-	3	539	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000456827.1_Missense_Mutation_p.H73Y			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	73					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TTGTCAGAATGGTTCTTCCTC	0.373																																						ENST00000336233.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(217-219)Cat>Tat		lipase A, lysosomal acid, cholesterol esterase							85.0	90.0	88.0					10																	91005445		2203	4300	6503	SO:0001583	missense	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:91005445G>A	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.217C>T	10.37:g.91005445G>A	ENSP00000337354:p.His73Tyr					LIPA_ENST00000456827.1_Missense_Mutation_p.H73Y|LIPA_ENST00000371837.1_Intron	p.H73Y			P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	3	539	-		Colorectal(252;0.0162)	73					B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	c.217C>T	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	G	4.347	0.063932	0.08388	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.2	-2.51	0.06365	Partial AB-hydrolase lipase domain (1);	.	.	.	.	T	0.69628	0.3132	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56195	-0.8019	9	0.59425	D	0.04	-0.2621	0.275	0.00237	0.3328:0.1375:0.2485:0.2812	.	73	P38571	LICH_HUMAN	Y	73	ENSP00000337354:H73Y;ENSP00000413019:H73Y;ENSP00000388415:H73Y;ENSP00000282673:H73Y	ENSP00000282673:H73Y	H	-	1	0	LIPA	90995425	0.000000	0.05858	0.004000	0.12327	0.991000	0.79684	-0.233000	0.09041	-0.342000	0.08363	-0.182000	0.12963	CAT		0.373	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		5	123	0	0	0	1	0	5	123				
SNX13	23161	broad.mit.edu	37	7	17836453	17836453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:17836453G>A	ENST00000409389.1	-	25	2828	c.2656C>T	c.(2656-2658)Cca>Tca	p.P886S	SNX13_ENST00000428135.3_Missense_Mutation_p.P875S|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	886					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CACTCACCTGGCATAATTGCA	0.353																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2656-2658)Cca>Tca		sorting nexin 13							174.0	156.0	162.0					7																	17836453		1843	4085	5928	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17836453G>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2656C>T	7.37:g.17836453G>A	ENSP00000386705:p.Pro886Ser					SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.P875S	p.P886S			Q9Y5W8	SNX13_HUMAN			25	2828	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		886					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.2656C>T		.	.	.	.	.	.	.	.	.	.	G	17.42	3.383960	0.61845	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.36878	1.23;1.23	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.53671	1.685	0.80722	D	1	D;D;P	0.71674	0.964;0.998;0.955	P;D;P	0.70935	0.722;0.971;0.717	T	0.55927	-0.8063	10	0.52906	T	0.07	.	19.214	0.93768	0.0:0.0:1.0:0.0	.	672;886;875	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	S	886;875;923	ENSP00000386705:P886S;ENSP00000398789:P875S	ENSP00000242044:P923S	P	-	1	0	SNX13	17802978	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.529000	0.85273	0.557000	0.71058	CCA		0.353	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		19	83	0	0	0	1	0	19	83				
TSSC4	10078	broad.mit.edu	37	11	2427943	2427943	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:2427943C>T	ENST00000333256.6	+	0	1686				TRPM5_ENST00000452833.1_Missense_Mutation_p.E1069K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E1067K|TRPM5_ENST00000528453.1_Missense_Mutation_p.E1067K|TRPM5_ENST00000533060.1_Missense_Mutation_p.E1067K|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4											endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCGCTTCTCCATCTTGCTC	0.617																																						ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(3205-3207)Gag>Aag		transient receptor potential cation channel, subfamily M, member 5							107.0	100.0	103.0					11																	2427943		2202	4299	6501	SO:0001628	intergenic_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2427943C>T	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2427943C>T						TRPM5_ENST00000533060.1_Missense_Mutation_p.E1067K|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Missense_Mutation_p.E1067K|TRPM5_ENST00000528453.1_Missense_Mutation_p.E1067K	p.E1069K			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	21	3213	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	1067					C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.3205G>A	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866743	0.51588	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.61510	0.24;0.18;0.18;0.1;0.18	3.96	3.96	0.45880	.	0.062472	0.64402	D	0.000006	T	0.64461	0.2600	L	0.55481	1.735	0.49687	D	0.999817	D;D;D	0.58620	0.983;0.983;0.964	P;P;P	0.56042	0.74;0.74;0.79	T	0.64575	-0.6375	10	0.37606	T	0.19	-29.723	13.8992	0.63792	0.0:1.0:0.0:0.0	.	1067;1069;1067	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	K	1061;1067;1069;1067;1067	ENSP00000434383:E1061K;ENSP00000155858:E1067K;ENSP00000387965:E1069K;ENSP00000434121:E1067K;ENSP00000436809:E1067K	ENSP00000155858:E1067K	E	-	1	0	TRPM5	2384519	0.964000	0.33143	0.955000	0.39395	0.263000	0.26337	3.353000	0.52247	1.936000	0.56123	0.561000	0.74099	GAG		0.617	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		4	46	0	0	0	1	0	4	46				
OS9	10956	broad.mit.edu	37	12	58112165	58112165	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:58112165G>A	ENST00000315970.7	+	11	1412	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K	OS9_ENST00000435406.2_Silent_p.K405K|OS9_ENST00000389146.6_Intron|OS9_ENST00000389142.5_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000552285.1_Silent_p.K457K|OS9_ENST00000413095.2_Silent_p.K251K|OS9_ENST00000551035.1_Silent_p.K425K|OS9_ENST00000257966.8_Silent_p.K458K|RP11-571M6.7_ENST00000549477.1_RNA	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	457					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CGGAGGTGAAGGCTGGCATGG	0.577																																						ENST00000315970.7																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21						c.(1369-1371)aaG>aaA		osteosarcoma amplified 9, endoplasmic reticulum lectin							126.0	121.0	123.0					12																	58112165		2203	4300	6503	SO:0001819	synonymous_variant	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58112165G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1371G>A	12.37:g.58112165G>A						OS9_ENST00000413095.2_Silent_p.K251K|OS9_ENST00000257966.8_Silent_p.K458K|OS9_ENST00000439210.2_Intron|OS9_ENST00000389142.5_Intron|OS9_ENST00000435406.2_Silent_p.K405K|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Intron|OS9_ENST00000551035.1_Silent_p.K425K|OS9_ENST00000552285.1_Silent_p.K457K	p.K457K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	1412	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		457					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	ENST00000315970.7	37	c.1371G>A	CCDS31843.1																																																																																				0.577	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		18	48	0	0	0	1	0	18	48				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	95	0	0	0	1	0	6	95				
TAS2R5	54429	broad.mit.edu	37	7	141490876	141490876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:141490876C>T	ENST00000247883.4	+	1	860	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	239					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CATGGCCAGCCCCTTCTCCAT	0.512																																						ENST00000247883.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(715-717)Ccc>Tcc		taste receptor, type 2, member 5							189.0	173.0	178.0					7																	141490876		2203	4300	6503	SO:0001583	missense	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490876C>T	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.715C>T	7.37:g.141490876C>T	ENSP00000247883:p.Pro239Ser						p.P239S	NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN			1	860	+	Melanoma(164;0.0171)		239					Q645W0|Q75MV7	Missense_Mutation	SNP	ENST00000247883.4	37	c.715C>T	CCDS5869.1	.	.	.	.	.	.	.	.	.	.	C	7.914	0.737214	0.15574	.	.	ENSG00000127366	ENST00000247883	T	0.36157	1.27	4.6	1.68	0.24146	.	.	.	.	.	T	0.38983	0.1061	L	0.36672	1.1	0.09310	N	1	P	0.49961	0.93	P	0.56563	0.801	T	0.17048	-1.0382	9	0.62326	D	0.03	.	5.4389	0.16496	0.3506:0.5537:0.0:0.0958	.	239	Q9NYW4	TA2R5_HUMAN	S	239	ENSP00000247883:P239S	ENSP00000247883:P239S	P	+	1	0	TAS2R5	141137345	0.000000	0.05858	0.032000	0.17829	0.011000	0.07611	0.427000	0.21379	0.141000	0.18875	-0.188000	0.12872	CCC		0.512	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			8	193	0	0	0	1	0	8	193				
ABCC2	1244	broad.mit.edu	37	10	101577157	101577157	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101577157G>A	ENST00000370449.4	+	17	2300	c.2187G>A	c.(2185-2187)agG>agA	p.R729R		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	729	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGAAAAGAGGTACCAGCAAG	0.483																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(2185-2187)agG>agA		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						88.0	80.0	83.0					10																	101577157		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101577157G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2187G>A	10.37:g.101577157G>A							p.R729R	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	17	2300	+		Colorectal(252;0.234)	729			ABC transporter 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.2187G>A	CCDS7484.1																																																																																				0.483	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		9	33	0	0	0	1	0	9	33				
OR13J1	392309	broad.mit.edu	37	9	35870387	35870387	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:35870387G>A	ENST00000377981.2	-	1	74	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTTCTGTTGAGCGGCTCCA	0.557																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(10-12)ctC>ctT		olfactory receptor, family 13, subfamily J, member 1							43.0	42.0	42.0					9																	35870387		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35870387G>A		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.12C>T	9.37:g.35870387G>A							p.L4L	NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	74	-	all_epithelial(49;0.169)		4					B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.12C>T	CCDS35011.1																																																																																				0.557	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			3	34	0	0	0	1	0	3	34				
NAA11	84779	broad.mit.edu	37	4	80246860	80246860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:80246860C>T	ENST00000286794.4	-	1	344	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	58	Interaction with NAA15. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCATTTTGGCCAGAACATAG	0.532																																						ENST00000286794.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(172-174)Gcc>Acc		N(alpha)-acetyltransferase 11, NatA catalytic subunit							134.0	134.0	134.0					4																	80246860		2182	4289	6471	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246860C>T		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.172G>A	4.37:g.80246860C>T	ENSP00000286794:p.Ala58Thr						p.A58T	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN			1	344	-			58			Interaction with NAA15 (By similarity).|N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.172G>A	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252650	0.80135	.	.	ENSG00000156269	ENST00000286794	T	0.35605	1.3	5.04	5.04	0.67666	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.49236	0.1545	M	0.63208	1.945	0.80722	D	1	P	0.42961	0.795	P	0.52957	0.714	T	0.33854	-0.9852	9	.	.	.	-18.4632	14.1089	0.65109	0.0:1.0:0.0:0.0	.	58	Q9BSU3	NAA11_HUMAN	T	58	ENSP00000286794:A58T	.	A	-	1	0	NAA11	80465884	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	5.157000	0.64911	2.793000	0.96121	0.563000	0.77884	GCC		0.532	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			8	143	0	0	0	1	0	8	143				
CR1	1378	broad.mit.edu	37	1	207737348	207737348	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207737348C>T	ENST00000367049.4	+	22	3726	c.3726C>T	c.(3724-3726)ccC>ccT	p.P1242P	CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Silent_p.P792P|CR1_ENST00000400960.2_Silent_p.P792P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.P792P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	792	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTGCACACCCCAGGGAGACT	0.547																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(3724-3726)ccC>ccT		complement component (3b/4b) receptor 1 (Knops blood group)							27.0	63.0	54.0					1																	207737348		1326	4030	5356	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207737348C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.3726C>T	1.37:g.207737348C>T						CR1_ENST00000400960.2_Silent_p.P792P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.P792P|CR1_ENST00000367051.1_Silent_p.P792P|CR1_ENST00000367052.1_Intron	p.P1242P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			22	3726	+			792			Sushi 19.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.3726C>T	CCDS44308.1																																																																																				0.547	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		9	55	0	0	0	1	0	9	55				
RUFY2	55680	broad.mit.edu	37	10	70123860	70123860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:70123860C>T	ENST00000602465.1	-	14	1436	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	RUFY2_ENST00000388768.2_Missense_Mutation_p.E481K|RUFY2_ENST00000265865.3_Missense_Mutation_p.E36K			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	495						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AAGTCAGTTTCCAGTTGCACC	0.383																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1441-1443)Gaa>Aaa		RUN and FYVE domain containing 2							192.0	173.0	179.0					10																	70123860		1878	4130	6008	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70123860C>T	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1336G>A	10.37:g.70123860C>T	ENSP00000473462:p.Glu446Lys					RUFY2_ENST00000602465.1_Missense_Mutation_p.E446K|RUFY2_ENST00000265865.3_Missense_Mutation_p.E36K	p.E481K	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			14	1767	-			495					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1441G>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.301079	0.81136	.	.	ENSG00000204130	ENST00000388768;ENST00000265865	T;T	0.74002	0.46;-0.8	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.64404	1.975	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.968	D	0.85139	0.0979	10	0.66056	D	0.02	.	18.2793	0.90092	0.0:1.0:0.0:0.0	.	481;495	Q8WXA3-3;Q8WXA3	.;RUFY2_HUMAN	K	481;36	ENSP00000373420:E481K;ENSP00000265865:E36K	ENSP00000265865:E36K	E	-	1	0	RUFY2	69793866	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.642000	0.74329	2.841000	0.97950	0.637000	0.83480	GAA		0.383	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		7	118	0	0	0	1	0	7	118				
NXF1	10482	broad.mit.edu	37	11	62559961	62559961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62559961G>A	ENST00000532297.1	-	22	2476	c.1847C>T	c.(1846-1848)gCa>gTa	p.A616V	TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000294172.2_Missense_Mutation_p.A616V|TMEM223_ENST00000307366.7_5'Flank|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'UTR|TMEM223_ENST00000525631.1_5'Flank			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	616	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCATGAATGCCACTTCTGG	0.527																																						ENST00000532297.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1846-1848)gCa>gTa		nuclear RNA export factor 1							240.0	239.0	239.0					11																	62559961		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62559961G>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1847C>T	11.37:g.62559961G>A	ENSP00000436679:p.Ala616Val					NXF1_ENST00000294172.2_Missense_Mutation_p.A616V|NXF1_ENST00000531709.2_3'UTR	p.A616V			Q9UBU9	NXF1_HUMAN			22	2476	-			616			TAP-C.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.1847C>T	CCDS8037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.274260|5.274260	0.95459|0.95459	.|.	.|.	ENSG00000162231|ENSG00000162231	ENST00000294172;ENST00000532297|ENST00000527902	T;T|.	0.68624|.	-0.34;-0.34|.	5.4|5.4	5.4|5.4	0.78164|0.78164	TAP, C-terminal (3);UBA-like (1);|.	0.060354|.	0.64402|.	D|.	0.000004|.	T|T	0.78629|0.78629	0.4313|0.4313	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.80127|0.80127	-0.1512|-0.1512	10|5	0.87932|.	D|.	0|.	-9.7967|-9.7967	16.6796|16.6796	0.85288|0.85288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	616|.	Q9UBU9|.	NXF1_HUMAN|.	V|Y	616|121	ENSP00000294172:A616V;ENSP00000436679:A616V|.	ENSP00000294172:A616V|.	A|H	-|-	2|1	0|0	NXF1|NXF1	62316537|62316537	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	8.133000|8.133000	0.89605|0.89605	2.559000|2.559000	0.86315|0.86315	0.462000|0.462000	0.41574|0.41574	GCA|CAT		0.527	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		36	241	0	0	0	1	0	36	241				
TTYH1	57348	broad.mit.edu	37	19	54947317	54947317	+	3'UTR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:54947317C>T	ENST00000376530.3	+	0	1464				AC008746.12_ENST00000599382.1_lincRNA|TTYH1_ENST00000391739.3_3'UTR|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000301194.4_3'UTR|CTD-2587H19.3_ENST00000597355.1_lincRNA|CTD-2587H19.2_ENST00000596631.1_RNA|TTYH1_ENST00000376531.3_Missense_Mutation_p.L439F	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1						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)			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)		TGAGCCCCTCCTCCCGGCTGG	0.662																																						ENST00000376531.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1315-1317)Ctc>Ttc		tweety family member 1							99.0	113.0	108.0					19																	54947317		2203	4300	6503	SO:0001624	3_prime_UTR_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54947317C>T	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.*8C>T	19.37:g.54947317C>T						TTYH1_ENST00000391739.3_3'UTR|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000301194.4_3'UTR|TTYH1_ENST00000376530.3_3'UTR	p.L439F	NM_001005367.2	NP_001005367.1	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	12	1342	+	Ovarian(34;0.19)		0					B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.1315C>T	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942675	0.34283	.	.	ENSG00000167614	ENST00000376531	T	0.12039	2.72	4.38	-0.388	0.12459	.	0.455763	0.21362	N	0.075791	T	0.06325	0.0163	.	.	.	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.40232	-0.9574	9	0.09843	T	0.71	2.6154	8.752	0.34622	0.0:0.676:0.0:0.324	.	439	Q9H313-3	.	F	439	ENSP00000365714:L439F	ENSP00000365714:L439F	L	+	1	0	TTYH1	59639129	0.255000	0.24002	0.167000	0.22817	0.911000	0.54048	0.804000	0.27098	-0.154000	0.11118	0.561000	0.74099	CTC		0.662	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			9	141	0	0	0	1	0	9	141				
RAB39B	116442	broad.mit.edu	37	X	154490490	154490490	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:154490490C>T	ENST00000369454.3	-	2	540	c.240G>A	c.(238-240)agG>agA	p.R80R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	80					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTACTGAGTTCCTGTAGTAGG	0.438																																						ENST00000369454.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(238-240)agG>agA		RAB39B, member RAS oncogene family							138.0	138.0	138.0					X																	154490490		2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490490C>T	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.240G>A	X.37:g.154490490C>T							p.R80R	NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN			2	540	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		80					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.240G>A	CCDS14766.1																																																																																				0.438	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		79	165	0	0	0	1	0	79	165				
HNRNPA1	3178	broad.mit.edu	37	12	54676444	54676444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54676444G>A	ENST00000340913.6	+	6	724	c.671G>A	c.(670-672)gGt>gAt	p.G224D	HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.G224D|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.G224D	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	224	Gly-rich.|RNA-binding RGG-box.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AACTTCAGTGGTCGTGGTATG	0.438																																					Colon(83;502 1289 8436 16406 24870)	ENST00000546500.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(670-672)gGt>gAt		heterogeneous nuclear ribonucleoprotein A1							138.0	134.0	135.0					12																	54676444		2203	4300	6503	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54676444G>A	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.671G>A	12.37:g.54676444G>A	ENSP00000341826:p.Gly224Asp					HNRNPA1_ENST00000340913.6_Missense_Mutation_p.G224D|HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.G224D|RP11-968A15.8_ENST00000553061.1_RNA	p.G224D			P09651	ROA1_HUMAN			6	1286	+			224			Gly-rich.|RNA-binding RGG-box.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.671G>A	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450605	0.43531	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000550482	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	3.1	3.1	0.35709	.	.	.	.	.	D	0.84938	0.5583	M	0.67953	2.075	0.80722	D	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001;0.0	D	0.84303	0.0506	9	0.56958	D	0.05	.	12.4584	0.55718	0.0:0.0:1.0:0.0	.	202;224;224;224;224;224	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	D	224;224;224;224;224;224;224;95	ENSP00000448617:G224D;ENSP00000341826:G224D;ENSP00000333504:G224D;ENSP00000446486:G95D	ENSP00000333504:G224D	G	+	2	0	HNRNPA1	52962711	1.000000	0.71417	0.991000	0.47740	0.489000	0.33432	3.232000	0.51302	2.053000	0.61076	0.289000	0.19496	GGT		0.438	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		10	26	0	0	0	1	0	10	26				
CACNA1A	773	broad.mit.edu	37	19	13395921	13395921	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:13395921G>A	ENST00000360228.5	-	21	3652	c.3653C>T	c.(3652-3654)cCt>cTt	p.P1218L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P1219L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1219					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTATAGGGAGGCATTGGCTT	0.597																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(3652-3654)cCt>cTt		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						114.0	124.0	121.0					19																	13395921		1938	4135	6073	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13395921G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3653C>T	19.37:g.13395921G>A	ENSP00000353362:p.Pro1218Leu					CACNA1A_ENST00000573710.2_Missense_Mutation_p.P1219L	p.P1218L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		21	3652	-			1219					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.3653C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521012	0.27211	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.31769	1.48	4.92	3.89	0.44902	.	0.273464	0.27811	N	0.017759	T	0.19644	0.0472	N	0.25426	0.745	0.80722	D	1	B;B;B	0.25169	0.119;0.072;0.022	B;B;B	0.30105	0.075;0.111;0.011	T	0.03784	-1.1004	10	0.02654	T	1	.	12.4281	0.55559	0.0837:0.0:0.9163:0.0	.	1219;1222;1218	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	L	1218;1222;1219;1219	ENSP00000353362:P1218L	ENSP00000317661:P1219L	P	-	2	0	CACNA1A	13256921	1.000000	0.71417	0.998000	0.56505	0.702000	0.40608	5.234000	0.65343	1.083000	0.41159	-0.224000	0.12420	CCT		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		6	92	0	0	0	1	0	6	92				
DLL3	10683	broad.mit.edu	37	19	39994794	39994794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39994794C>T	ENST00000205143.4	+	5	743	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	DLL3_ENST00000356433.5_Missense_Mutation_p.P246S	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	246	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGGACTGGACCCCTCTGCAC	0.662																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(736-738)Ccc>Tcc		delta-like 3 (Drosophila)							70.0	68.0	69.0					19																	39994794		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39994794C>T	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.736C>T	19.37:g.39994794C>T	ENSP00000205143:p.Pro246Ser					DLL3_ENST00000356433.5_Missense_Mutation_p.P246S	p.P246S	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	743	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		246			EGF-like 1.		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.736C>T	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319551	0.60524	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	T;T	0.48522	0.81;0.81	4.87	4.87	0.63330	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.47093	D	0.000248	T	0.53610	0.1807	N	0.20483	0.58	0.46203	D	0.998921	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.99;0.986	T	0.50482	-0.8823	9	.	.	.	.	17.3114	0.87211	0.0:1.0:0.0:0.0	.	246;246;246	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	S	246	ENSP00000348810:P246S;ENSP00000205143:P246S	.	P	+	1	0	DLL3	44686634	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.575000	0.46025	2.698000	0.92095	0.561000	0.74099	CCC		0.662	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			14	25	0	0	0	1	0	14	25				
GLA	2717	broad.mit.edu	37	X	100658875	100658875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100658875G>A	ENST00000218516.3	-	2	314	c.293C>T	c.(292-294)cCc>cTc	p.P98L	GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	98					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ATCTCTTTGGGGAGCCATCCA	0.478																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(292-294)cCc>cTc		galactosidase, alpha	Agalsidase beta(DB00103)						191.0	172.0	178.0					X																	100658875		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100658875G>A	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.293C>T	X.37:g.100658875G>A	ENSP00000218516:p.Pro98Leu					GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	p.P98L	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN			2	314	-			98					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.293C>T	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	G	8.030	0.761551	0.15914	.	.	ENSG00000102393	ENST00000218516	D	0.99797	-6.79	5.79	4.91	0.64330	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.244180	0.49305	D	0.000143	D	0.98485	0.9495	.	.	.	0.43953	D	0.996629	B;B	0.11235	0.0;0.004	B;B	0.13407	0.007;0.009	D	0.99982	1.2680	9	0.09843	T	0.71	-6.7596	15.1748	0.72901	0.0:0.0:0.858:0.142	.	98;98	B4DLT5;P06280	.;AGAL_HUMAN	L	98	ENSP00000218516:P98L	ENSP00000218516:P98L	P	-	2	0	GLA	100545531	0.745000	0.28261	0.910000	0.35882	0.969000	0.65631	1.739000	0.38217	1.164000	0.42652	0.594000	0.82650	CCC		0.478	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			14	229	0	0	0	1	0	14	229				
BAIAP3	8938	broad.mit.edu	37	16	1391394	1391394	+	Missense_Mutation	SNP	G	G	A	rs377482883	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1391394G>A	ENST00000324385.5	+	8	898	c.740G>A	c.(739-741)gGc>gAc	p.G247D	BAIAP3_ENST00000426824.3_Missense_Mutation_p.G212D|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G212D|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G189D|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G229D|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G184D|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G229D	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	247	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TTCCGCAAGGGCAGCAAGCGC	0.652													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.001					ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(739-741)gGc>gAc		BAI1-associated protein 3		G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	1,4389		0,1,2194	52.0	48.0	49.0		635,635,566,551,740	4.7	0.9	16		49	0,8590		0,0,4295	no	missense,missense,missense,missense,missense	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	94,94,94,94,94	0,1,6489	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	212/1117,212/1153,189/1130,184/1125,247/1188	1391394	1,12979	2195	4295	6490	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1391394G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.740G>A	16.37:g.1391394G>A	ENSP00000324510:p.Gly247Asp					BAIAP3_ENST00000397488.2_Missense_Mutation_p.G229D|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G212D|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G189D|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G229D|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G212D|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G184D	p.G247D	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			8	898	+		Hepatocellular(780;0.0893)	247			C2 1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.740G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504166	0.44558	2.28E-4	0.0	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.70986	-0.52;-0.53;-0.52;-0.53;-0.53	4.72	4.72	0.59763	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.299752	0.31648	N	0.007292	T	0.65863	0.2732	L	0.29908	0.895	0.31922	N	0.61332	B;P;P;P;P	0.48998	0.418;0.918;0.608;0.608;0.608	B;P;B;B;B	0.52514	0.1;0.701;0.306;0.42;0.443	T	0.69636	-0.5092	10	0.39692	T	0.17	-32.7631	8.7376	0.34539	0.1016:0.0:0.8984:0.0	.	212;264;189;247;229	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	D	212;229;247;229;212	ENSP00000407242:G212D;ENSP00000380625:G229D;ENSP00000324510:G247D;ENSP00000380626:G229D;ENSP00000409533:G212D	ENSP00000324510:G247D	G	+	2	0	BAIAP3	1331395	1.000000	0.71417	0.920000	0.36463	0.150000	0.21749	1.651000	0.37302	2.438000	0.82558	0.313000	0.20887	GGC		0.652	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			25	45	0	0	0	1	0	25	45				
SACS	26278	broad.mit.edu	37	13	23904377	23904377	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:23904377C>T	ENST00000382292.3	-	9	13911	c.13638G>A	c.(13636-13638)caG>caA	p.Q4546Q	SACS_ENST00000402364.1_Silent_p.Q3796Q|SACS_ENST00000382298.3_Silent_p.Q4546Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4546	HEPN. {ECO:0000255|PROSITE- ProRule:PRU00105}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATTTGGGATCTGAGGAAAGG	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(13636-13638)caG>caA		spastic ataxia of Charlevoix-Saguenay (sacsin)							135.0	125.0	128.0					13																	23904377		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904377C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13638G>A	13.37:g.23904377C>T						SACS_ENST00000382292.3_Silent_p.Q4546Q|SACS_ENST00000402364.1_Silent_p.Q3796Q	p.Q4546Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	14226	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4546			HEPN.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.13638G>A	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		6	96	0	0	0	1	0	6	96				
STAG3	10734	broad.mit.edu	37	7	99798467	99798467	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99798467G>A	ENST00000426455.1	+	19	2343	c.1936G>A	c.(1936-1938)Gcg>Acg	p.A646T	STAG3_ENST00000317296.5_Missense_Mutation_p.A646T|STAG3_ENST00000394018.2_Missense_Mutation_p.A588T|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	646					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAGGCTGGGGCGCATGCCCT	0.572																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(1936-1938)Gcg>Acg		stromal antigen 3							54.0	52.0	53.0					7																	99798467		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99798467G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1936G>A	7.37:g.99798467G>A	ENSP00000400359:p.Ala646Thr					STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.A588T|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.A646T|GATS_ENST00000436886.2_3'UTR	p.A646T			Q9UJ98	STAG3_HUMAN			19	2343	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		646					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1936G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	12.93	2.086777	0.36855	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.35973	1.28;1.28;1.28	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.51477	D	0.000098	T	0.57198	0.2037	M	0.76727	2.345	0.22280	N	0.999233	D;D	0.63046	0.981;0.992	D;P	0.66716	0.946;0.838	T	0.54583	-0.8272	10	0.66056	D	0.02	-11.0872	11.8574	0.52446	0.0:0.0:0.8253:0.1747	.	588;646	B4DZ10;Q9UJ98	.;STAG3_HUMAN	T	646;588;604;646	ENSP00000400359:A646T;ENSP00000377586:A588T;ENSP00000319318:A646T	ENSP00000319318:A646T	A	+	1	0	STAG3	99636403	0.000000	0.05858	0.214000	0.23707	0.068000	0.16541	0.182000	0.16900	2.556000	0.86216	0.655000	0.94253	GCG		0.572	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		10	66	0	0	0	1	0	10	66				
EML3	256364	broad.mit.edu	37	11	62378799	62378799	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62378799C>T	ENST00000394773.2	-	3	519	c.212G>A	c.(211-213)gGa>gAa	p.G71E	EML3_ENST00000529309.1_Missense_Mutation_p.G71E|EML3_ENST00000494176.2_Missense_Mutation_p.G43E|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.G72E|EML3_ENST00000531557.1_5'Flank|ROM1_ENST00000534093.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	71						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.L72fs*46(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGGTGGCAGTCCTGGGGGGGC	0.597																																						ENST00000394773.2																			1	Insertion - Frameshift(1)	p.L72fs*46(1)	breast(1)	biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(211-213)gGa>gAa		echinoderm microtubule associated protein like 3							27.0	29.0	29.0					11																	62378799		2199	4296	6495	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62378799C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.212G>A	11.37:g.62378799C>T	ENSP00000378254:p.Gly71Glu					EML3_ENST00000278845.4_Missense_Mutation_p.G72E|EML3_ENST00000494176.2_Missense_Mutation_p.G43E|EML3_ENST00000529309.1_Missense_Mutation_p.G71E	p.G71E	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			3	519	-			71					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.212G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352481	0.61293	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309;ENST00000466886;ENST00000466671;ENST00000419857	T;T;T;T	0.45668	1.82;1.76;0.89;1.71	5.05	5.05	0.67936	.	0.163053	0.38778	N	0.001561	T	0.47857	0.1468	N	0.24115	0.695	0.40192	D	0.977419	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.994;0.999	T	0.33266	-0.9875	10	0.20046	T	0.44	-3.1771	14.2488	0.66007	0.0:1.0:0.0:0.0	.	71;71;72;43	Q32P44-2;Q32P44;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.	E	71;72;43;71;42;43;42	ENSP00000378254:G71E;ENSP00000278845:G72E;ENSP00000435064:G43E;ENSP00000434513:G71E	ENSP00000278845:G72E	G	-	2	0	EML3	62135375	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	4.170000	0.58229	2.515000	0.84797	0.462000	0.41574	GGA		0.597	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		3	42	0	0	0	1	0	3	42				
AC005013.5	0	broad.mit.edu	37	7	28997460	28997460	+	lincRNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:28997460C>T	ENST00000436594.1	+	0	178				TRIL_ENST00000322982.3_RNA																							TATGAAGTTGCCGCCGAGGCT	0.632																																						ENST00000322982.3																			0													TLR4 interactor with leucine-rich repeats							84.0	90.0	88.0					7																	28997460		2068	4191	6259			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28997460C>T																													7.37:g.28997460C>T						AC005013.5_ENST00000436594.1_lincRNA				Q7L0X0	TRIL_HUMAN			0	474	-									RNA	SNP	ENST00000436594.1	37																																																																																						0.632	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			4	76	0	0	0	1	0	4	76				
MYH11	4629	broad.mit.edu	37	16	15812190	15812190	+	Silent	SNP	G	G	A	rs112564682	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:15812190G>A	ENST00000300036.5	-	37	5386	c.5277C>T	c.(5275-5277)gtC>gtT	p.V1759V	MYH11_ENST00000396324.3_Silent_p.V1766V|MYH11_ENST00000452625.2_Silent_p.V1766V|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.2_Silent_p.V1759V	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1759					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGGCTTTGCGGACCCGGTCGC	0.662			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(5275-5277)gtC>gtT		myosin, heavy chain 11, smooth muscle		G	,,,,,	0,4394		0,0,2197	86.0	58.0	68.0		5298,5298,,5277,,5277	1.5	0.8	16	dbSNP_132	68	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	MYH11,NDE1	NM_001040113.1,NM_001040114.1,NM_001143979.1,NM_002474.2,NM_017668.2,NM_022844.2	,,,,,	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	,,,,,	1766/1946,1766/1980,,1759/1973,,1759/1939	15812190	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15812190G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5277C>T	16.37:g.15812190G>A						NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.1_Silent_p.V1759V|MYH11_ENST00000300036.5_Silent_p.V1759V|MYH11_ENST00000452625.2_Silent_p.V1766V|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Silent_p.V1766V	p.V1759V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			37	5383	-			1759					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.5277C>T	CCDS10565.1																																																																																				0.662	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		31	55	0	0	0	1	0	31	55				
FARSB	10056	broad.mit.edu	37	2	223497942	223497942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:223497942G>A	ENST00000281828.6	-	7	954	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	FARSB_ENST00000536361.1_Missense_Mutation_p.L132F	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	231					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GGCATTGAAAGGACGACACCA	0.343																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(691-693)Ctt>Ttt		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						123.0	120.0	121.0					2																	223497942		2203	4299	6502	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223497942G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.691C>T	2.37:g.223497942G>A	ENSP00000281828:p.Leu231Phe					FARSB_ENST00000536361.1_Missense_Mutation_p.L132F	p.L231F	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	7	954	-		Renal(207;0.0183)	231					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.691C>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945525	0.53079	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.30981	1.51;1.51	5.29	4.4	0.53042	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.060470	0.64402	N	0.000002	T	0.42810	0.1219	M	0.74258	2.255	0.58432	D	0.999999	P;B	0.40619	0.724;0.22	P;B	0.44673	0.457;0.26	T	0.45425	-0.9262	10	0.49607	T	0.09	-11.1046	15.7154	0.77663	0.0:0.0:0.8621:0.1379	.	231;231	A8K666;Q9NSD9	.;SYFB_HUMAN	F	231;132	ENSP00000281828:L231F;ENSP00000442950:L132F	ENSP00000281828:L231F	L	-	1	0	FARSB	223206186	1.000000	0.71417	0.850000	0.33497	0.988000	0.76386	7.387000	0.79785	1.364000	0.46038	0.478000	0.44815	CTT		0.343	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		7	94	0	0	0	1	0	7	94				
MUC4	4585	broad.mit.edu	37	3	195501099	195501099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195501099G>A	ENST00000346145.4	-	3	352	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	MUC4_ENST00000475231.1_Missense_Mutation_p.L4341F|MUC4_ENST00000463781.3_Missense_Mutation_p.L4341F|MUC4_ENST00000349607.4_Missense_Mutation_p.L54F	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1098					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTTGAAGAGTGGGGAGGTG	0.662																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(13021-13023)Ctc>Ttc		mucin 4, cell surface associated							50.0	49.0	49.0					3																	195501099		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195501099G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.313C>T	3.37:g.195501099G>A	ENSP00000304207:p.Leu105Phe					MUC4_ENST00000475231.1_Missense_Mutation_p.L4341F|MUC4_ENST00000346145.4_Missense_Mutation_p.L105F|MUC4_ENST00000349607.4_Missense_Mutation_p.L54F	p.L4341F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	4	13480	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1098					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.13021C>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.892793	0.33442	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.43688	0.94;1.3;1.25;1.16	5.27	3.27	0.37495	.	0.377339	0.18938	U	0.127005	T	0.59959	0.2232	M	0.71581	2.175	0.19775	N	0.99996	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	D;D;D;D	0.72982	0.915;0.976;0.979;0.979	T	0.50268	-0.8848	10	0.56958	D	0.05	-11.8948	10.8615	0.46829	0.0:0.1453:0.715:0.1397	.	4213;1098;54;105	E7ESK3;Q99102;Q99102-12;Q99102-13	.;MUC4_HUMAN;.;.	F	54;105;4341;4341;1067	ENSP00000338109:L54F;ENSP00000304207:L105F;ENSP00000417498:L4341F;ENSP00000420243:L4341F	ENSP00000304207:L105F	L	-	1	0	MUC4	196986733	0.952000	0.32445	0.813000	0.32504	0.020000	0.10135	1.462000	0.35266	1.147000	0.42369	0.638000	0.83543	CTC		0.662	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		18	17	0	0	0	1	0	18	17				
KTN1	3895	broad.mit.edu	37	14	56108464	56108464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:56108464C>T	ENST00000395314.3	+	18	2226	c.2158C>T	c.(2158-2160)Ctt>Ttt	p.L720F	KTN1_ENST00000554507.1_5'Flank|KTN1_ENST00000416613.1_Missense_Mutation_p.L720F|KTN1_ENST00000438792.2_Missense_Mutation_p.L720F|KTN1_ENST00000395308.1_Missense_Mutation_p.L720F|KTN1_ENST00000395311.1_Missense_Mutation_p.L720F|KTN1_ENST00000395309.3_Missense_Mutation_p.L720F|KTN1_ENST00000413890.2_Missense_Mutation_p.L720F	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	720					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCTACAGACTCTTGTTTCTGA	0.294			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2158-2160)Ctt>Ttt		kinectin 1 (kinesin receptor)							70.0	73.0	72.0					14																	56108464		2203	4299	6502	SO:0001583	missense	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56108464C>T		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2158C>T	14.37:g.56108464C>T	ENSP00000378725:p.Leu720Phe					KTN1_ENST00000395309.3_Missense_Mutation_p.L720F|KTN1_ENST00000413890.2_Missense_Mutation_p.L720F|KTN1_ENST00000395308.1_Missense_Mutation_p.L720F|KTN1_ENST00000395311.1_Missense_Mutation_p.L720F|KTN1_ENST00000438792.2_Missense_Mutation_p.L720F|KTN1_ENST00000395314.3_Missense_Mutation_p.L720F	p.L720F			Q86UP2	KTN1_HUMAN			17	2230	+			720					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.2158C>T	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	C	8.680	0.904827	0.17760	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.35048	1.38;1.37;1.33;1.37;1.38;1.38;1.37	5.93	2.66	0.31614	.	0.568134	0.15807	N	0.243700	T	0.29716	0.0742	L	0.36672	1.1	0.24137	N	0.995749	B;B;B;B	0.11235	0.004;0.003;0.004;0.004	B;B;B;B	0.15870	0.014;0.005;0.014;0.014	T	0.27123	-1.0083	10	0.56958	D	0.05	-0.379	12.3448	0.55114	0.2548:0.639:0.1062:0.0	.	720;720;720;720	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	F	720	ENSP00000394992:L720F;ENSP00000378720:L720F;ENSP00000391964:L720F;ENSP00000378725:L720F;ENSP00000378719:L720F;ENSP00000378722:L720F;ENSP00000388807:L720F	ENSP00000378719:L720F	L	+	1	0	KTN1	55178217	0.856000	0.29760	0.940000	0.37924	0.939000	0.58152	2.327000	0.43858	0.761000	0.33130	0.591000	0.81541	CTT		0.294	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			41	50	0	0	0	1	0	41	50				
DLD	1738	broad.mit.edu	37	7	107555951	107555951	+	Splice_Site	SNP	G	G	A	rs121964990		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:107555951G>A	ENST00000205402.5	+	9	966	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	DLD_ENST00000440410.1_Splice_Site_p.G206S|DLD_ENST00000537148.1_Splice_Site_p.G130S|DLD_ENST00000437604.2_Splice_Site_p.G181S	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	229			G -> C (in DLDD). {ECO:0000269|PubMed:9934985}.		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)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TTATTTGCAGGGTTCAGTTTG	0.303																																						ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20	GRCh37	CM990485	DLD	M	rs121964990	c.e9-1		dihydrolipoamide dehydrogenase	NADH(DB00157)						88.0	90.0	89.0					7																	107555951		2203	4300	6503	SO:0001630	splice_region_variant	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107555951G>A	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.685-1G>A	7.37:g.107555951G>A						DLD_ENST00000440410.1_Splice_Site_p.G206_splice|DLD_ENST00000437604.2_Splice_Site_p.G181_splice|DLD_ENST00000537148.1_Splice_Site_p.G130_splice	p.G229_splice	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			9	966	+			229		G -> C (in DLD deficiency; carrier rate among Askenazi Jewish 1:94).			B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Splice_Site	SNP	ENST00000205402.5	37	c.684_splice	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545324	0.96488	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.79	5.79	0.91817	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.76433	2.335	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.97110	1.0;0.979;1.0	T	0.72947	-0.4137	9	.	.	.	-10.6736	20.0349	0.97554	0.0:0.0:1.0:0.0	.	206;181;229	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	S	229;229;130;206;181;179	ENSP00000205402:G229S;ENSP00000390667:G229S;ENSP00000442399:G130S;ENSP00000417016:G206S;ENSP00000387542:G181S	.	G	+	1	0	DLD	107343187	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.869000	0.99810	2.735000	0.93741	0.591000	0.81541	GGT		0.303	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108	Missense_Mutation	6	86	0	0	0	1	0	6	86				
VPS18	57617	broad.mit.edu	37	15	41191512	41191512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41191512C>T	ENST00000220509.5	+	4	835	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	166					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		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)		CGGGACTGCCCAAGGCCACAT	0.602																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(496-498)Caa>Taa		vacuolar protein sorting 18 homolog (S. cerevisiae)							90.0	91.0	90.0					15																	41191512		2203	4300	6503	SO:0001587	stop_gained	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191512C>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.496C>T	15.37:g.41191512C>T	ENSP00000220509:p.Gln166*					VPS18_ENST00000558474.1_Intron	p.Q166*	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	835	+		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)	166					Q8TCG0|Q96DI3|Q9H268	Nonsense_Mutation	SNP	ENST00000220509.5	37	c.496C>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422894	0.96111	.	.	ENSG00000104142	ENST00000220509	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0792	18.2707	0.90068	0.0:1.0:0.0:0.0	.	.	.	.	X	166	.	ENSP00000220509:Q166X	Q	+	1	0	VPS18	38978804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.723000	0.68492	2.609000	0.88269	0.655000	0.94253	CAA		0.602	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			4	90	0	0	0	1	0	4	90				
TGFBI	7045	broad.mit.edu	37	5	135379792	135379792	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:135379792G>A	ENST00000442011.2	+	3	440	c.279G>A	c.(277-279)ggG>ggA	p.G93G	TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Silent_p.G93G	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	93	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTCCCTGGGGAGAAGGGCT	0.532																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(277-279)ggG>ggA		transforming growth factor, beta-induced, 68kDa							172.0	175.0	174.0					5																	135379792		2024	4182	6206	SO:0001819	synonymous_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135379792G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.279G>A	5.37:g.135379792G>A						TGFBI_ENST00000305126.8_Silent_p.G93G|TGFBI_ENST00000504185.1_3'UTR	p.G93G	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	440	+			93			EMI.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	c.279G>A	CCDS47266.1																																																																																				0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			9	95	0	0	0	1	0	9	95				
CELSR3	1951	broad.mit.edu	37	3	48682610	48682610	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48682610G>A	ENST00000164024.4	-	25	8110	c.7830C>T	c.(7828-7830)caC>caT	p.H2610H	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Silent_p.H2615H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2610					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAAGAAGTAGTGCAGGAGGA	0.652																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7843-7845)caC>caT		cadherin, EGF LAG seven-pass G-type receptor 3							62.0	58.0	60.0					3																	48682610		2199	4298	6497	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48682610G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7830C>T	3.37:g.48682610G>A						CELSR3_ENST00000164024.4_Silent_p.H2610H	p.H2615H			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	26	8125	-			2610					O75092	Silent	SNP	ENST00000164024.4	37	c.7845C>T	CCDS2775.1																																																																																				0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		9	17	0	0	0	1	0	9	17				
KRBA2	124751	broad.mit.edu	37	17	8272703	8272703	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:8272703C>T	ENST00000331336.2	-	2	1233	c.1228G>A	c.(1228-1230)Gca>Aca	p.A410T	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.A328T|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	410	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CCAAACATTGCCTCAAATGGA	0.468																																						ENST00000396267.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(982-984)Gca>Aca		KRAB-A domain containing 2							98.0	91.0	94.0					17																	8272703		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8272703C>T	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1228G>A	17.37:g.8272703C>T	ENSP00000328017:p.Ala410Thr					RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.A410T|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	p.A328T			Q6ZNG9	KRBA2_HUMAN			2	1813	-			410			Integrase catalytic.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.982G>A	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	c	12.05	1.822037	0.32237	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.45668	0.89;0.89	2.78	1.78	0.24846	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.34687	0.0906	L	0.42245	1.32	0.24173	N	0.995611	P	0.43885	0.82	B	0.42495	0.389	T	0.20140	-1.0284	9	0.87932	D	0	.	6.006	0.19547	0.0:0.8539:0.0:0.1461	.	410	Q6ZNG9	KRBA2_HUMAN	T	328;410	ENSP00000379565:A328T;ENSP00000328017:A410T	ENSP00000328017:A410T	A	-	1	0	KRBA2	8213428	0.863000	0.29885	0.870000	0.34147	0.830000	0.47004	1.647000	0.37260	0.729000	0.32403	0.650000	0.86243	GCA		0.468	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		4	111	0	0	0	1	0	4	111				
MYCBPAP	84073	broad.mit.edu	37	17	48596042	48596042	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:48596042G>A	ENST00000323776.5	+	5	900	c.738G>A	c.(736-738)caG>caA	p.Q246Q	MYCBPAP_ENST00000436259.2_Silent_p.Q209Q	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AAAACTGGCAGCGTAACACAG	0.582																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(736-738)caG>caA		MYCBP associated protein							83.0	97.0	92.0					17																	48596042		2203	4300	6503	SO:0001819	synonymous_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48596042G>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.738G>A	17.37:g.48596042G>A						MYCBPAP_ENST00000436259.2_Silent_p.Q209Q	p.Q246Q	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		5	900	+	Breast(11;1.23e-18)		209						Silent	SNP	ENST00000323776.5	37	c.738G>A	CCDS32680.2																																																																																				0.582	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		32	55	0	0	0	1	0	32	55				
AKAP2	11217	broad.mit.edu	37	9	112900708	112900708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:112900708G>A	ENST00000259318.7	+	2	2398	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E962K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E962K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E962K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E962K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E820K|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000434623.2_Missense_Mutation_p.E820K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	731										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGCAGCTCAGGAAAGGGAAGA	0.532																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2884-2886)Gaa>Aaa									84.0	78.0	80.0					9																	112900708		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112900708G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2191G>A	9.37:g.112900708G>A	ENSP00000259318:p.Glu731Lys					PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E962K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E820K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E820K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E962K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E962K|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000259318.7_Missense_Mutation_p.E731K	p.E962K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	3064	+			731					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2884G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546597	0.86022	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	6.17	6.17	0.99709	.	0.050862	0.85682	D	0.000000	T	0.59932	0.2230	M	0.63843	1.955	0.58432	D	0.999994	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.996;0.999;0.998;0.997;0.997	D;D;D;D;D;D;D	0.81914	0.989;0.995;0.935;0.995;0.989;0.946;0.946	T	0.51188	-0.8737	10	0.40728	T	0.16	-27.4027	19.8676	0.96824	0.0:0.0:1.0:0.0	.	731;820;814;820;821;962;962	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4	AKAP2_HUMAN;.;.;.;.;.;.	K	962;962;962;962;820;820;731	ENSP00000363654:E962K;ENSP00000305861:E962K;ENSP00000451476:E962K;ENSP00000421522:E962K;ENSP00000404782:E820K;ENSP00000363649:E820K;ENSP00000259318:E731K	ENSP00000259318:E731K	E	+	1	0	PALM2-AKAP2;AKAP2	111940529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.041000	0.57339	2.941000	0.99782	0.655000	0.94253	GAA		0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		22	31	0	0	0	1	0	22	31				
LRRN2	10446	broad.mit.edu	37	1	204587352	204587352	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:204587352G>A	ENST00000367175.1	-	1	3981	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	LRRN2_ENST00000367177.3_Missense_Mutation_p.A590V|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.A590V			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	590					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTACTCCGTGGCCTGAAGGAG	0.642																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1768-1770)gCc>gTc		leucine rich repeat neuronal 2							51.0	56.0	54.0					1																	204587352		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587352G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1769C>T	1.37:g.204587352G>A	ENSP00000356143:p.Ala590Val					LRRN2_ENST00000367176.3_Missense_Mutation_p.A590V|LRRN2_ENST00000367177.3_Missense_Mutation_p.A590V	p.A590V			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3981	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		590					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1769C>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449076	0.43531	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.04706	3.57;3.57;3.57	5.55	4.58	0.56647	.	0.000000	0.35407	U	0.003237	T	0.05823	0.0152	L	0.55481	1.735	0.35832	D	0.825361	P	0.47302	0.893	B	0.37692	0.256	T	0.17868	-1.0355	10	0.62326	D	0.03	.	10.2651	0.43449	0.0:0.1244:0.6603:0.2152	.	590	O75325	LRRN2_HUMAN	V	590	ENSP00000356144:A590V;ENSP00000356145:A590V;ENSP00000356143:A590V	ENSP00000356143:A590V	A	-	2	0	LRRN2	202853975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.713000	0.37951	2.608000	0.88229	0.591000	0.81541	GCC		0.642	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		4	42	0	0	0	1	0	4	42				
CELSR3	1951	broad.mit.edu	37	3	48699578	48699578	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48699578C>T	ENST00000164024.4	-	1	770	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	CELSR3_ENST00000544264.1_Missense_Mutation_p.G164S|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	164					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCCCCGAGCCCGGGACCCCT	0.632																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(490-492)Ggc>Agc		cadherin, EGF LAG seven-pass G-type receptor 3							48.0	58.0	55.0					3																	48699578		2202	4298	6500	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699578C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.490G>A	3.37:g.48699578C>T	ENSP00000164024:p.Gly164Ser					CELSR3_ENST00000164024.4_Missense_Mutation_p.G164S	p.G164S			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	770	-			164					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.490G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	0.820	-0.748930	0.03065	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.68624	-0.34;-0.33	5.05	0.992	0.19819	.	.	.	.	.	T	0.38480	0.1042	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.18587	-1.0332	9	0.17369	T	0.5	.	4.1685	0.10318	0.1553:0.4077:0.0:0.437	.	164;234	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	164	ENSP00000164024:G164S;ENSP00000445694:G164S	ENSP00000164024:G164S	G	-	1	0	CELSR3	48674582	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.307000	0.19296	-0.000000	0.14550	-1.093000	0.02169	GGC		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	121	0	0	0	1	0	7	121				
COL25A1	84570	broad.mit.edu	37	4	110223114	110223114	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:110223114G>A	ENST00000399132.1	-	2	592	c.62C>T	c.(61-63)aCc>aTc	p.T21I	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399127.1_Missense_Mutation_p.T21I|COL25A1_ENST00000399126.1_Missense_Mutation_p.T21I	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTCGGCAGGGGTCGGGTCCTC	0.687																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(61-63)aCc>aTc		collagen, type XXV, alpha 1							42.0	47.0	45.0					4																	110223114		1983	4155	6138	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:110223114G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.62C>T	4.37:g.110223114G>A	ENSP00000382083:p.Thr21Ile					COL25A1_ENST00000399127.1_Missense_Mutation_p.T21I|COL25A1_ENST00000399126.1_Missense_Mutation_p.T21I	p.T21I	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	2	592	-		Hepatocellular(203;0.217)	21						Missense_Mutation	SNP	ENST00000399132.1	37	c.62C>T	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632914	0.29068	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653;ENST00000505591	D;D;D	0.91124	-2.58;-2.7;-2.79	4.88	3.11	0.35812	.	0.837496	0.10494	N	0.668119	T	0.81442	0.4823	N	0.08118	0	0.09310	N	1	B;B;B	0.14805	0.006;0.011;0.006	B;B;B	0.19946	0.012;0.027;0.008	T	0.63010	-0.6732	9	.	.	.	0.0017	14.4024	0.67056	0.0:0.7173:0.2827:0.0	.	21;21;21	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	I	21	ENSP00000382083:T21I;ENSP00000382078:T21I;ENSP00000382077:T21I	.	T	-	2	0	COL25A1	110442563	0.164000	0.22935	0.002000	0.10522	0.201000	0.24016	1.143000	0.31553	0.746000	0.32786	-0.228000	0.12330	ACC		0.687	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		8	84	0	0	0	1	0	8	84				
ZNF397	84307	broad.mit.edu	37	18	32823182	32823182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:32823182G>A	ENST00000330501.7	+	3	634	c.481G>A	c.(481-483)Gag>Aag	p.E161K	ZNF397_ENST00000355632.4_Missense_Mutation_p.E161K|ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000261333.6_Missense_Mutation_p.E161K|ZNF397_ENST00000592264.1_Missense_Mutation_p.E161K|ZNF397_ENST00000591206.1_Missense_Mutation_p.E161K|ZNF397_ENST00000585800.1_Missense_Mutation_p.E161K	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	161					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						AGCATCCCAAGAGTCAACAGA	0.468																																						ENST00000330501.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						c.(481-483)Gag>Aag		zinc finger protein 397							120.0	115.0	117.0					18																	32823182		2203	4300	6503	SO:0001583	missense	84307				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32823182G>A	BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.481G>A	18.37:g.32823182G>A	ENSP00000331577:p.Glu161Lys					ZNF397_ENST00000591206.1_Missense_Mutation_p.E161K|ZNF397_ENST00000592264.1_Missense_Mutation_p.E161K|ZNF397_ENST00000261333.6_Missense_Mutation_p.E161K|ZNF397_ENST00000585800.1_Missense_Mutation_p.E161K|ZNF397_ENST00000355632.4_Missense_Mutation_p.E161K|ZNF397_ENST00000589420.1_3'UTR	p.E161K	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN			3	634	+			161					Q9BRM2	Missense_Mutation	SNP	ENST00000330501.7	37	c.481G>A	CCDS45852.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809882	0.31961	.	.	ENSG00000186812	ENST00000261333;ENST00000330501;ENST00000355632	T;T;T	0.08282	4.19;3.11;4.15	4.94	3.12	0.35913	.	0.538297	0.13908	U	0.354410	T	0.07234	0.0183	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.16802	0.001;0.001;0.019;0.003	B;B;B;B	0.17098	0.004;0.003;0.017;0.01	T	0.29912	-0.9996	10	0.56958	D	0.05	.	7.1242	0.25463	0.0954:0.1746:0.7299:0.0	.	161;161;161;161	Q96K65;Q8NF99;Q8NF99-2;Q8NF99-3	.;ZN397_HUMAN;.;.	K	161	ENSP00000261333:E161K;ENSP00000331577:E161K;ENSP00000347850:E161K	ENSP00000261333:E161K	E	+	1	0	ZNF397	31077180	0.077000	0.21312	0.012000	0.15200	0.022000	0.10575	1.787000	0.38704	0.741000	0.32674	0.591000	0.81541	GAG		0.468	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347		14	66	0	0	0	1	0	14	66				
SNHG14	104472715	broad.mit.edu	37	15	25287184	25287184	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:25287184G>A	ENST00000552781.1	+	0	328				SNORD109A_ENST00000459128.1_RNA																							TCAATCTGAGGTCCAGATGTG	0.478																																						ENST00000552781.1																			0																				55.0	52.0	53.0					15																	25287184		876	1991	2867			0							g.chr15:25287184G>A																													15.37:g.25287184G>A						SNORD109A_ENST00000459128.1_RNA								0	328	+									RNA	SNP	ENST00000552781.1	37																																																																																						0.478	RP11-701H24.10-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473258.1			14	38	0	0	0	1	0	14	38				
PER2	8864	broad.mit.edu	37	2	239176786	239176786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:239176786G>A	ENST00000254657.3	-	8	1157	c.878C>T	c.(877-879)cCc>cTc	p.P293L	PER2_ENST00000440245.1_Missense_Mutation_p.P293L|PER2_ENST00000254658.3_Missense_Mutation_p.P293L|PER2_ENST00000355768.2_Missense_Mutation_p.P293L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	293					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GACCAGGTAGGGCGTCATGCG	0.552																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(877-879)cCc>cTc		period circadian clock 2							156.0	153.0	154.0					2																	239176786		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239176786G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.878C>T	2.37:g.239176786G>A	ENSP00000254657:p.Pro293Leu					PER2_ENST00000440245.1_Missense_Mutation_p.P293L|PER2_ENST00000355768.2_Missense_Mutation_p.P293L|PER2_ENST00000254658.3_Missense_Mutation_p.P293L	p.P293L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	8	1157	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	293					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.878C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681321	0.88542	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.52754	2.62;0.65;1.83;0.65	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.983;0.997;0.991;0.994	T	0.72487	-0.4278	10	0.02654	T	1	-26.7187	15.4206	0.75009	0.0:0.0:1.0:0.0	.	293;293;293;293	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	L	293	ENSP00000254657:P293L;ENSP00000254658:P293L;ENSP00000397516:P293L;ENSP00000348013:P293L	ENSP00000254657:P293L	P	-	2	0	PER2	238841525	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	9.350000	0.97070	2.417000	0.82017	0.650000	0.86243	CCC		0.552	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		16	39	0	0	0	1	0	16	39				
TNN	63923	broad.mit.edu	37	1	175049334	175049334	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:175049334A>G	ENST00000239462.4	+	4	933	c.820A>G	c.(820-822)Acg>Gcg	p.T274A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	274	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTCAAGAACACGGAGGATTC	0.607																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(820-822)Acg>Gcg		tenascin N							49.0	51.0	51.0					1																	175049334		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049334A>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.820A>G	1.37:g.175049334A>G	ENSP00000239462:p.Thr274Ala						p.T274A	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	933	+		Breast(1374;0.000962)	274			Fibronectin type-III 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.820A>G	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046340	0.75846	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.60299	0.2	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.81682	2.555	0.49687	D	0.999816	D;D	0.89917	1.0;0.985	D;D	0.79784	0.993;0.919	T	0.78411	-0.2214	10	0.46703	T	0.11	.	15.4264	0.75055	1.0:0.0:0.0:0.0	.	274;274	B3KXB6;Q9UQP3	.;TENN_HUMAN	A	274	ENSP00000239462:T274A	ENSP00000239462:T274A	T	+	1	0	TNN	173315957	1.000000	0.71417	0.996000	0.52242	0.602000	0.36980	4.740000	0.62087	2.119000	0.64992	0.528000	0.53228	ACG		0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		3	35	0	0	0	1	0	3	35				
FLT1	2321	broad.mit.edu	37	13	28913374	28913374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:28913374C>T	ENST00000282397.4	-	17	2670	c.2419G>A	c.(2419-2421)Gat>Aat	p.D807N	FLT1_ENST00000540678.1_Missense_Mutation_p.D25N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	807					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACTGCTCATCCAAAGGAACT	0.413																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2419-2421)Gat>Aat		fms-related tyrosine kinase 1	Sunitinib(DB01268)						83.0	82.0	82.0					13																	28913374		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28913374C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2419G>A	13.37:g.28913374C>T	ENSP00000282397:p.Asp807Asn					FLT1_ENST00000540678.1_Missense_Mutation_p.D25N	p.D807N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	17	2670	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	807					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2419G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143613	0.94603	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.88896	-2.44;-2.44	5.52	5.52	0.82312	Protein kinase-like domain (1);	0.105038	0.64402	D	0.000006	D	0.93200	0.7834	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.92818	0.6270	10	0.54805	T	0.06	.	19.7926	0.96466	0.0:1.0:0.0:0.0	.	807	P17948	VGFR1_HUMAN	N	807;25	ENSP00000282397:D807N;ENSP00000443311:D25N	ENSP00000282397:D807N	D	-	1	0	FLT1	27811374	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.818000	0.86416	2.761000	0.94854	0.655000	0.94253	GAT		0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			22	29	0	0	0	1	0	22	29				
IDH3B	3420	broad.mit.edu	37	20	2644626	2644626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2644626C>T	ENST00000380843.4	-	2	92	c.62G>A	c.(61-63)gGg>gAg	p.G21E	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Missense_Mutation_p.G21E|RP4-686C3.7_ENST00000418739.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	21					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TCTCCATGCCCCAGGGTTCCC	0.612																																						ENST00000380843.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						c.(61-63)gGg>gAg		isocitrate dehydrogenase 3 (NAD+) beta	NADH(DB00157)						37.0	40.0	39.0					20																	2644626		2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2644626C>T		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.62G>A	20.37:g.2644626C>T	ENSP00000370223:p.Gly21Glu					IDH3B_ENST00000380851.5_Missense_Mutation_p.G21E|IDH3B_ENST00000488299.1_5'UTR	p.G21E	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN			2	92	-			21					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.62G>A	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	C	9.027	0.986326	0.18889	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.40476	1.03;1.03	5.75	1.48	0.22813	.	0.824500	0.11411	N	0.566750	T	0.15696	0.0378	N	0.08118	0	0.24387	N	0.994768	B;B	0.30281	0.275;0.18	B;B	0.24269	0.052;0.023	T	0.22243	-1.0222	10	0.07482	T	0.82	-2.8113	3.9715	0.09455	0.1593:0.4485:0.3085:0.0836	.	21;21	O43837-2;O43837	.;IDH3B_HUMAN	E	21	ENSP00000370232:G21E;ENSP00000370223:G21E	ENSP00000343215:G21E	G	-	2	0	IDH3B	2592626	0.020000	0.18652	0.008000	0.14137	0.971000	0.66376	0.988000	0.29616	0.303000	0.22785	-0.182000	0.12963	GGG		0.612	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			25	35	0	0	0	1	0	25	35				
RABEP2	79874	broad.mit.edu	37	16	28926076	28926076	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28926076C>T	ENST00000358201.4	-	4	1048	c.460G>A	c.(460-462)Gag>Aag	p.E154K	RABEP2_ENST00000561803.1_5'Flank|RABEP2_ENST00000357573.6_Missense_Mutation_p.E154K|RABEP2_ENST00000544477.1_Missense_Mutation_p.E83K	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	154					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGTACGATCTCCCGCAGCTTC	0.622																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(460-462)Gag>Aag		rabaptin, RAB GTPase binding effector protein 2							92.0	98.0	96.0					16																	28926076		2033	4177	6210	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28926076C>T	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.460G>A	16.37:g.28926076C>T	ENSP00000350934:p.Glu154Lys					RABEP2_ENST00000544477.1_Missense_Mutation_p.E83K|RABEP2_ENST00000357573.6_Missense_Mutation_p.E154K	p.E154K	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			4	1048	-			154						Missense_Mutation	SNP	ENST00000358201.4	37	c.460G>A	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440356	0.63067	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.46451	0.93;0.92;0.87	4.84	4.84	0.62591	Rabaptin coiled-coil domain (1);	0.285709	0.31381	N	0.007750	T	0.48696	0.1514	N	0.22421	0.69	0.39798	D	0.972533	D;D;D;D	0.76494	0.999;0.974;0.979;0.989	D;P;P;P	0.81914	0.995;0.647;0.696;0.87	T	0.53613	-0.8414	10	0.66056	D	0.02	-24.8124	12.2473	0.54578	0.1704:0.8296:0.0:0.0	.	83;154;154;154	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	K	154;154;83	ENSP00000350934:E154K;ENSP00000350186:E154K;ENSP00000442798:E83K	ENSP00000350186:E154K	E	-	1	0	RABEP2	28833577	0.996000	0.38824	1.000000	0.80357	0.203000	0.24098	3.489000	0.53237	2.410000	0.81850	0.462000	0.41574	GAG		0.622	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		41	37	0	0	0	1	0	41	37				
ATP6V0A4	50617	broad.mit.edu	37	7	138394384	138394384	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:138394384G>A	ENST00000310018.2	-	21	2696	c.2414C>T	c.(2413-2415)gCc>gTc	p.A805V	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A805V|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A805V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	805					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGTCGCAGGGCGTGCAGGAA	0.552																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2413-2415)gCc>gTc		ATPase, H+ transporting, lysosomal V0 subunit a4							175.0	172.0	173.0					7																	138394384		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394384G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2414C>T	7.37:g.138394384G>A	ENSP00000308122:p.Ala805Val					ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A805V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A805V	p.A805V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2696	-			805					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.2414C>T	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384543	0.95967	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.90385	-2.66;-2.66;-2.66	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96735	0.9542	10	0.87932	D	0	-27.0032	19.8636	0.96797	0.0:0.0:1.0:0.0	.	805	Q9HBG4	VPP4_HUMAN	V	805	ENSP00000308122:A805V;ENSP00000376774:A805V;ENSP00000253856:A805V	ENSP00000308122:A805V	A	-	2	0	ATP6V0A4	138044924	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.869000	0.99810	2.694000	0.91930	0.655000	0.94253	GCC		0.552	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		58	205	0	0	0	1	0	58	205				
SNRNP200	23020	broad.mit.edu	37	2	96942665	96942665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96942665C>T	ENST00000323853.5	-	43	6228	c.6151G>A	c.(6151-6153)Gtc>Atc	p.V2051I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2051	SEC63 2.				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)			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						GGCGCAATGACAGGGCCTGTG	0.622																																						ENST00000323853.5																			0				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						c.(6151-6153)Gtc>Atc		small nuclear ribonucleoprotein 200kDa (U5)							104.0	91.0	96.0					2																	96942665		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96942665C>T	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.6151G>A	2.37:g.96942665C>T	ENSP00000317123:p.Val2051Ile					SNRNP200_ENST00000349783.5_Intron	p.V2051I	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			43	6228	-			2051			SEC63 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.6151G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369772	0.95900	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.57752	0.38	5.17	5.17	0.71159	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	M	0.87617	2.895	0.80722	D	1	D	0.58970	0.984	D	0.64237	0.923	T	0.79478	-0.1787	10	0.66056	D	0.02	-19.0668	17.614	0.88063	0.0:1.0:0.0:0.0	.	2051	O75643	U520_HUMAN	I	2051;510;634	ENSP00000317123:V2051I	ENSP00000317123:V2051I	V	-	1	0	SNRNP200	96306392	1.000000	0.71417	0.968000	0.41197	0.983000	0.72400	7.294000	0.78760	2.703000	0.92315	0.655000	0.94253	GTC		0.622	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		5	105	0	0	0	1	0	5	105				
ASNSD1	54529	broad.mit.edu	37	2	190532283	190532283	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:190532283G>A	ENST00000260952.4	+	4	1838	c.1425G>A	c.(1423-1425)gtG>gtA	p.V475V	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	475	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GTTGGTTAGTGGCCCAGGAAG	0.428																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1423-1425)gtG>gtA		asparagine synthetase domain containing 1							148.0	151.0	150.0					2																	190532283		2114	4237	6351	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190532283G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1425G>A	2.37:g.190532283G>A						ASNSD1_ENST00000607062.1_Intron	p.V475V	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1838	+			475			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.1425G>A	CCDS2300.1																																																																																				0.428	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		57	95	0	0	0	1	0	57	95				
SALL1	6299	broad.mit.edu	37	16	51175939	51175939	+	Missense_Mutation	SNP	C	C	T	rs147997808		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:51175939C>T	ENST00000251020.4	-	2	227	c.194G>A	c.(193-195)tGt>tAt	p.C65Y	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	65					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATTTTTAGTACAGTTCTTCTT	0.478																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000251020.4																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(193-195)tGt>tAt		spalt-like transcription factor 1		C	,TYR/CYS	1,4395	2.1+/-5.4	0,1,2197	81.0	88.0	85.0		,194	5.4	1.0	16	dbSNP_134	85	0,8600		0,0,4300	no	utr-5,missense	SALL1	NM_001127892.1,NM_002968.2	,194	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging	,65/1325	51175939	1,12995	2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175939C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.194G>A	16.37:g.51175939C>T	ENSP00000251020:p.Cys65Tyr					SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.C65Y	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	227	-		all_cancers(37;0.0322)	65					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.194G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869868	0.72065	2.27E-4	0.0	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.53206	0.63	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78411	-0.2214	10	0.87932	D	0	.	19.1099	0.93313	0.0:1.0:0.0:0.0	.	65	Q9NSC2	SALL1_HUMAN	Y	65	ENSP00000251020:C65Y	ENSP00000251020:C65Y	C	-	2	0	SALL1	49733440	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.804000	0.85993	2.499000	0.84300	0.555000	0.69702	TGT		0.478	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		36	75	0	0	0	1	0	36	75				
C15orf57	90416	broad.mit.edu	37	15	40849556	40849556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40849556C>T	ENST00000358005.3	-	3	533	c.260G>A	c.(259-261)aGa>aAa	p.R87K	RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000559911.1_Missense_Mutation_p.R87K|C15orf57_ENST00000558750.1_Missense_Mutation_p.R96K|C15orf57_ENST00000561011.1_Missense_Mutation_p.R87K|C15orf57_ENST00000558113.1_Missense_Mutation_p.R87K|C15orf57_ENST00000416810.2_Missense_Mutation_p.R87K|C15orf57_ENST00000560305.1_Missense_Mutation_p.R87K|C15orf57_ENST00000558871.1_Missense_Mutation_p.R87K	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	87										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						ACCTTTGATTCTTCTTAGCTT	0.383																																						ENST00000358005.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						c.(259-261)aGa>aAa		chromosome 15 open reading frame 57							122.0	111.0	114.0					15																	40849556		2203	4300	6503	SO:0001583	missense	90416							g.chr15:40849556C>T	BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"""coiled-coil domain containing 32"""	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.260G>A	15.37:g.40849556C>T	ENSP00000350695:p.Arg87Lys					C15orf57_ENST00000558113.1_Missense_Mutation_p.R87K|C15orf57_ENST00000558750.1_Missense_Mutation_p.R96K|C15orf57_ENST00000416810.2_Missense_Mutation_p.R87K|C15orf57_ENST00000559911.1_Missense_Mutation_p.R87K|C15orf57_ENST00000561011.1_Missense_Mutation_p.R87K|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000560305.1_Missense_Mutation_p.R87K|C15orf57_ENST00000558871.1_Missense_Mutation_p.R87K	p.R87K	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN			3	533	-			87					A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	ENST00000358005.3	37	c.260G>A	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574357	0.45902	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.48522	0.81	5.43	3.55	0.40652	.	0.058160	0.64402	D	0.000001	T	0.32496	0.0831	L	0.31420	0.93	0.38509	D	0.948421	B;B;B	0.14012	0.005;0.009;0.005	B;B;B	0.16722	0.016;0.016;0.01	T	0.11299	-1.0593	10	0.21540	T	0.41	-8.6821	9.2663	0.37643	0.0:0.7802:0.0:0.2198	.	87;96;87	Q9BV29;Q9BV29-2;Q9BV29-3	CO057_HUMAN;.;.	K	87;96	ENSP00000350695:R87K	ENSP00000350695:R87K	R	-	2	0	C15orf57	38636848	1.000000	0.71417	0.997000	0.53966	0.823000	0.46562	3.361000	0.52306	0.662000	0.31006	0.555000	0.69702	AGA		0.383	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		17	58	0	0	0	1	0	17	58				
RP11-156P1.3	0	broad.mit.edu	37	17	45131551	45131551	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:45131551G>A	ENST00000575173.1	-	0	418																											TTCGCAAAGGGAGAGTCAGGT	0.468																																						ENST00000575173.1																			0																																																			0							g.chr17:45131551G>A																													17.37:g.45131551G>A														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.468	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			17	34	0	0	0	1	0	17	34				
LAMA4	3910	broad.mit.edu	37	6	112463336	112463336	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:112463336G>A	ENST00000230538.7	-	20	3049	c.2652C>T	c.(2650-2652)taC>taT	p.Y884Y	LAMA4_ENST00000522006.1_Silent_p.Y877Y|LAMA4_ENST00000424408.2_Silent_p.Y877Y|LAMA4_ENST00000389463.4_Silent_p.Y877Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	884	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGCTTCCGAGGTACAGGATAA	0.453																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2650-2652)taC>taT		laminin, alpha 4							110.0	110.0	110.0					6																	112463336		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112463336G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2652C>T	6.37:g.112463336G>A						LAMA4_ENST00000389463.4_Silent_p.Y877Y|LAMA4_ENST00000424408.2_Silent_p.Y877Y|LAMA4_ENST00000522006.1_Silent_p.Y877Y	p.Y884Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	20	3049	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	884			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2652C>T	CCDS43491.1																																																																																				0.453	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		7	82	0	0	0	1	0	7	82				
DHRSX	207063	broad.mit.edu	37	X	2209632	2209632	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:2209632T>C	ENST00000334651.5	-	4	351	c.299A>G	c.(298-300)tAc>tGc	p.Y100C		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	100							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAAGTCACAGTATAAAAATTC	0.393																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(298-300)tAc>tGc		dehydrogenase/reductase (SDR family) X-linked							189.0	189.0	189.0					X																	2209632		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2209632T>C	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.299A>G	X.37:g.2209632T>C	ENSP00000334113:p.Tyr100Cys						p.Y100C	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			4	351	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	100					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.299A>G	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	T	8.388	0.839009	0.16891	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	D;D;D	0.87334	-2.24;-2.24;-2.24	2.19	-2.55	0.06288	NAD(P)-binding domain (1);	0.736265	0.12246	U	0.486090	D	0.84224	0.5425	N	0.25890	0.77	0.20307	N	0.999912	D	0.76494	0.999	D	0.66351	0.943	T	0.73142	-0.4076	10	0.54805	T	0.06	.	4.3639	0.11215	0.1899:0.0:0.1917:0.6184	.	100	Q8N5I4	DHRSX_HUMAN	C	100;77;33	ENSP00000334113:Y100C;ENSP00000391778:Y77C;ENSP00000402741:Y33C	ENSP00000334113:Y100C	Y	-	2	0	DHRSX	2219632	1.000000	0.71417	0.304000	0.25085	0.342000	0.28953	1.397000	0.34543	-0.121000	0.11787	0.225000	0.17782	TAC		0.393	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		48	81	0	0	0	1	0	48	81				
IBTK	25998	broad.mit.edu	37	6	82911195	82911195	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:82911195G>A	ENST00000306270.7	-	19	3283	c.2734C>T	c.(2734-2736)Ctt>Ttt	p.L912F	IBTK_ENST00000510291.1_Missense_Mutation_p.L912F|IBTK_ENST00000503631.1_Missense_Mutation_p.L711F	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	912					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAAACATCAAGAGACCTAAAA	0.318																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2734-2736)Ctt>Ttt		inhibitor of Bruton agammaglobulinemia tyrosine kinase							54.0	47.0	49.0					6																	82911195		2203	4298	6501	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82911195G>A	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2734C>T	6.37:g.82911195G>A	ENSP00000305721:p.Leu912Phe					IBTK_ENST00000503631.1_Missense_Mutation_p.L711F|IBTK_ENST00000510291.1_Missense_Mutation_p.L912F	p.L912F	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	19	3283	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	912					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.2734C>T	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637961	0.47049	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.30981	1.88;1.51;1.89	5.44	2.67	0.31697	.	0.147167	0.46442	D	0.000288	T	0.33235	0.0856	L	0.55834	1.745	0.53005	D	0.999962	P;D;D;D	0.89917	0.696;1.0;1.0;0.957	B;D;D;P	0.91635	0.346;0.998;0.999;0.542	T	0.05305	-1.0893	10	0.34782	T	0.22	-17.8894	9.282	0.37733	0.2733:0.0:0.7267:0.0	.	711;912;912;912	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	F	912;711;912	ENSP00000305721:L912F;ENSP00000422762:L711F;ENSP00000426405:L912F	ENSP00000305721:L912F	L	-	1	0	IBTK	82967914	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.874000	0.48483	1.304000	0.44892	-0.224000	0.12420	CTT		0.318	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		5	27	0	0	0	1	0	5	27				
APOL3	80833	broad.mit.edu	37	22	36541577	36541577	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:36541577G>A	ENST00000349314.2	-	2	331	c.294C>T	c.(292-294)atC>atT	p.I98I	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397293.2_Silent_p.I27I	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	98					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TAGTCAGCAGGATTTGCAGAT	0.512																																						ENST00000397293.2																			0				endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						c.(79-81)atC>atT		apolipoprotein L, 3							94.0	95.0	95.0					22																	36541577		2203	4300	6503	SO:0001819	synonymous_variant	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36541577G>A	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.294C>T	22.37:g.36541577G>A						APOL3_ENST00000349314.2_Silent_p.I98I|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000487423.1_5'UTR	p.I27I			O95236	APOL3_HUMAN			3	428	-			98					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Silent	SNP	ENST00000349314.2	37	c.81C>T	CCDS13922.1																																																																																				0.512	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		25	51	0	0	0	1	0	25	51				
KMT2D	8085	broad.mit.edu	37	12	49425764	49425764	+	Missense_Mutation	SNP	G	G	A	rs572421556		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:49425764G>A	ENST00000301067.7	-	39	12723	c.12724C>T	c.(12724-12726)Ccc>Tcc	p.P4242S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4242	Gln-rich.|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)										TCCTGGTAGGGTGGGGTCTGG	0.657																																						ENST00000301067.7																			0											c.(12724-12726)Ccc>Tcc		lysine (K)-specific methyltransferase 2D							27.0	33.0	31.0					12																	49425764		2004	4165	6169	SO:0001583	missense	8085							g.chr12:49425764G>A	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.12724C>T	12.37:g.49425764G>A	ENSP00000301067:p.Pro4242Ser						p.P4242S	NM_003482.3	NP_003473.3					39	12723	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.12724C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	5.785	0.329246	0.10956	.	.	ENSG00000167548	ENST00000301067	T	0.80824	-1.42	4.23	3.34	0.38264	.	0.221665	0.23316	N	0.049506	T	0.63861	0.2547	N	0.14661	0.345	0.19945	N	0.999944	B	0.17038	0.02	B	0.12156	0.007	T	0.58607	-0.7607	10	0.87932	D	0	.	7.8245	0.29307	0.091:0.1643:0.7447:0.0	.	4242	O14686	MLL2_HUMAN	S	4242	ENSP00000301067:P4242S	ENSP00000301067:P4242S	P	-	1	0	MLL2	47712031	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.176000	0.31957	1.389000	0.46526	0.655000	0.94253	CCC		0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			20	33	0	0	0	1	0	20	33				
MACF1	23499	broad.mit.edu	37	1	39903576	39903576	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39903576C>T	ENST00000372915.3	+	70	17900	c.17813C>T	c.(17812-17814)aCc>aTc	p.T5938I	MACF1_ENST00000545844.1_Missense_Mutation_p.T3980I|MACF1_ENST00000539005.1_Missense_Mutation_p.T3850I|MACF1_ENST00000567887.1_Missense_Mutation_p.T6076I|MACF1_ENST00000564288.1_Missense_Mutation_p.T6039I|MACF1_ENST00000317713.7_Missense_Mutation_p.T3980I|MACF1_ENST00000289893.4_Missense_Mutation_p.T4482I|MACF1_ENST00000361689.2_Missense_Mutation_p.T3980I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5938					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)			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)			AAGAGTGCCACCGTGGAGCTA	0.527																																						ENST00000564288.1																			0				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						c.(18115-18117)aCc>aTc		microtubule-actin crosslinking factor 1							150.0	140.0	143.0					1																	39903576		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39903576C>T	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.17813C>T	1.37:g.39903576C>T	ENSP00000362006:p.Thr5938Ile					MACF1_ENST00000361689.2_Missense_Mutation_p.T3980I|MACF1_ENST00000317713.7_Missense_Mutation_p.T3980I|MACF1_ENST00000289893.4_Missense_Mutation_p.T4482I|MACF1_ENST00000567887.1_Missense_Mutation_p.T6076I|MACF1_ENST00000539005.1_Missense_Mutation_p.T3850I|MACF1_ENST00000545844.1_Missense_Mutation_p.T3980I|MACF1_ENST00000372915.3_Missense_Mutation_p.T5938I	p.T6039I			Q9UPN3	MACF1_HUMAN	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)		71	18893	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6051					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.18116C>T		.	.	.	.	.	.	.	.	.	.	C	14.06	2.424125	0.43020	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.38	4.45	0.53987	.	0.395183	0.23966	N	0.042812	T	0.33760	0.0874	N	0.25647	0.755	0.80722	D	1	P;P	0.43542	0.81;0.529	B;B	0.39904	0.313;0.138	T	0.17077	-1.0381	10	0.59425	D	0.04	.	9.1451	0.36928	0.1472:0.7794:0.0:0.0734	.	5938;3980	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	I	3980;5938;3980;3980;3850;4482	ENSP00000439537:T3980I;ENSP00000362006:T5938I;ENSP00000354573:T3980I;ENSP00000313438:T3980I;ENSP00000444364:T3850I;ENSP00000289893:T4482I	ENSP00000289893:T4482I	T	+	2	0	MACF1	39676163	0.070000	0.21116	0.779000	0.31741	0.985000	0.73830	2.379000	0.44318	1.357000	0.45904	0.563000	0.77884	ACC		0.527	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	128	0	0	0	1	0	9	128				
C8A	731	broad.mit.edu	37	1	57373759	57373759	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:57373759G>A	ENST00000361249.3	+	9	1449	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	451	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGTCATTAAAGTATAATCCTG	0.458																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1351-1353)aaG>aaA		complement component 8, alpha polypeptide							149.0	155.0	153.0					1																	57373759		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57373759G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1353G>A	1.37:g.57373759G>A							p.K451K	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			9	1449	+			451			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.1353G>A	CCDS606.1																																																																																				0.458	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		10	27	0	0	0	1	0	10	27				
SHPK	23729	broad.mit.edu	37	17	3513922	3513922	+	Missense_Mutation	SNP	C	C	T	rs368975060		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3513922C>T	ENST00000225519.3	-	7	1471	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	457					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCATCCACATCCTGCCCAAAG	0.577																																						ENST00000225519.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1369-1371)Gat>Aat		sedoheptulokinase							157.0	149.0	152.0					17																	3513922		2203	4300	6503	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3513922C>T	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1369G>A	17.37:g.3513922C>T	ENSP00000225519:p.Asp457Asn						p.D457N	NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1471	-			457					B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.1369G>A	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519929	0.27211	.	.	ENSG00000197417	ENST00000225519	T	0.15952	2.38	4.66	4.66	0.58398	.	0.052536	0.85682	D	0.000000	T	0.20251	0.0487	M	0.72479	2.2	0.53005	D	0.999964	B	0.30605	0.287	B	0.20955	0.032	T	0.04693	-1.0933	10	0.23302	T	0.38	-12.6509	16.9394	0.86213	0.0:1.0:0.0:0.0	.	457	Q9UHJ6	SHPK_HUMAN	N	457	ENSP00000225519:D457N	ENSP00000225519:D457N	D	-	1	0	SHPK	3460671	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	5.175000	0.65021	2.314000	0.78098	0.563000	0.77884	GAT		0.577	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			44	75	0	0	0	1	0	44	75				
CACNA1D	776	broad.mit.edu	37	3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:53769492G>A	ENST00000350061.5	+	20	3224	c.2713G>A	c.(2713-2715)Gca>Aca	p.A905T	CACNA1D_ENST00000288139.4_Missense_Mutation_p.A925T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	905					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627																																						ENST00000288139.3																			0				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						c.(2773-2775)Gca>Aca		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						84.0	71.0	76.0					3																	53769492		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769492G>A	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.2713G>A	3.37:g.53769492G>A	ENSP00000288133:p.Ala905Thr					CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	p.A925T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		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)	21	2891	+			905					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2773G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595482	0.66219	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.46	4.58	0.56647	.	0.066144	0.64402	N	0.000015	D	0.98601	0.9532	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.972	D;P;D;P	0.79108	0.988;0.659;0.992;0.816	D	0.99655	1.0992	10	0.87932	D	0	.	16.7269	0.85424	0.0:0.1292:0.8708:0.0	.	905;598;905;925	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	905;925;905;598	ENSP00000288133:A905T;ENSP00000288139:A925T;ENSP00000409174:A905T;ENSP00000418014:A598T	ENSP00000288139:A925T	A	+	1	0	CACNA1D	53744532	1.000000	0.71417	0.106000	0.21319	0.197000	0.23852	7.906000	0.87423	1.407000	0.46875	0.555000	0.69702	GCA		0.627	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		43	62	0	0	0	1	0	43	62				
ARMC12	221481	broad.mit.edu	37	6	35706217	35706217	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:35706217G>A	ENST00000373866.3	+	3	388	c.366G>A	c.(364-366)aaG>aaA	p.K122K	ARMC12_ENST00000373869.3_Silent_p.K122K|RP3-510O8.4_ENST00000452048.1_RNA|ARMC12_ENST00000288065.2_Silent_p.K149K			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	122						nucleus (GO:0005634)											TGGATGACAAGGACAACAGTG	0.507																																						ENST00000373866.3																			0											c.(364-366)aaG>aaA		armadillo repeat containing 12							116.0	99.0	105.0					6																	35706217		2203	4300	6503	SO:0001819	synonymous_variant	221481						binding	g.chr6:35706217G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.366G>A	6.37:g.35706217G>A						ARMC12_ENST00000373869.3_Silent_p.K122K|ARMC12_ENST00000288065.2_Silent_p.K149K	p.K122K			Q5T9G4	CF081_HUMAN			3	388	+			122					Q8NEB2|Q96LL8	Silent	SNP	ENST00000373866.3	37	c.366G>A																																																																																					0.507	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		18	39	0	0	0	1	0	18	39				
ZSWIM3	140831	broad.mit.edu	37	20	44507165	44507165	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44507165C>T	ENST00000255152.2	+	2	2177	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S	ZSWIM3_ENST00000454862.2_Silent_p.S650S|ZSWIM1_ENST00000372520.1_5'Flank|ZSWIM1_ENST00000372523.1_5'Flank	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	656							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CTGGCCCCTCCCAGCCATCTG	0.597																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1966-1968)tcC>tcT		zinc finger, SWIM-type containing 3							101.0	107.0	105.0					20																	44507165		2203	4300	6503	SO:0001819	synonymous_variant	140831						zinc ion binding	g.chr20:44507165C>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1968C>T	20.37:g.44507165C>T						ZSWIM3_ENST00000454862.2_Silent_p.S650S	p.S656S	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	2177	+		Myeloproliferative disorder(115;0.0122)	656					Q9BR13	Silent	SNP	ENST00000255152.2	37	c.1968C>T	CCDS13381.1																																																																																				0.597	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		22	136	0	0	0	1	0	22	136				
STARD7-AS1	285033	broad.mit.edu	37	2	96906028	96906028	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96906028G>A	ENST00000446816.1	+	0	564																											AGAATACATGGACAATCCAAA	0.418																																						ENST00000446816.1																			0																				45.0	43.0	44.0					2																	96906028		1877	4107	5984			0							g.chr2:96906028G>A																													2.37:g.96906028G>A														0	564	+									RNA	SNP	ENST00000446816.1	37																																																																																						0.418	AC012307.3-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000338796.1			5	5	0	0	0	1	0	5	5				
CTBP2	1488	broad.mit.edu	37	10	126683113	126683113	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:126683113C>T	ENST00000337195.5	-	7	1104	c.705G>A	c.(703-705)caG>caA	p.Q235Q	CTBP2_ENST00000334808.6_Silent_p.Q303Q|CTBP2_ENST00000411419.2_Silent_p.Q235Q|CTBP2_ENST00000531469.1_Silent_p.Q235Q|CTBP2_ENST00000494626.2_Silent_p.Q235Q|CTBP2_ENST00000309035.6_Silent_p.Q775Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	235					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGCAGTCGCTCTGATACAGCA	0.483																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2323-2325)caG>caA		C-terminal binding protein 2							89.0	82.0	84.0					10																	126683113		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126683113C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.705G>A	10.37:g.126683113C>T						CTBP2_ENST00000334808.6_Silent_p.Q303Q|CTBP2_ENST00000337195.5_Silent_p.Q235Q|CTBP2_ENST00000411419.2_Silent_p.Q235Q|CTBP2_ENST00000494626.2_Silent_p.Q235Q|CTBP2_ENST00000531469.1_Silent_p.Q235Q	p.Q775Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	5	2455	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	235					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2325G>A	CCDS7643.1																																																																																				0.483	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		8	17	0	0	0	1	0	8	17				
PPP1R42	286187	broad.mit.edu	37	8	67922978	67922978	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:67922978G>A	ENST00000324682.5	-	5	668	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PPP1R42_ENST00000517834.1_5'Flank|PPP1R42_ENST00000522909.1_Missense_Mutation_p.A175V	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	175					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										GTTGTCAACGGCTATGAGCTG	0.284																																						ENST00000522909.1																			0											c.(523-525)gCc>gTc		protein phosphatase 1, regulatory subunit 42							77.0	76.0	76.0					8																	67922978		2203	4297	6500	SO:0001583	missense	286187							g.chr8:67922978G>A	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.524C>T	8.37:g.67922978G>A	ENSP00000315035:p.Ala175Val					PPP1R42_ENST00000324682.5_Missense_Mutation_p.A175V	p.A175V			Q7Z4L9	LRC67_HUMAN			5	708	-			175						Missense_Mutation	SNP	ENST00000324682.5	37	c.524C>T	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232040	0.79688	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.39229	2.33;1.09	5.83	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	L	0.43152	1.355	0.53688	D	0.999975	P	0.49635	0.926	P	0.54346	0.749	T	0.39121	-0.9629	10	0.29301	T	0.29	-7.5755	16.1844	0.81939	0.0:0.0:0.8655:0.1344	.	175	Q7Z4L9-2	.	V	175	ENSP00000429721:A175V;ENSP00000315035:A175V	ENSP00000315035:A175V	A	-	2	0	LRRC67	68085532	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.731000	0.84895	1.444000	0.47605	0.591000	0.81541	GCC		0.284	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		5	88	0	0	0	1	0	5	88				
PLD2	5338	broad.mit.edu	37	17	4712990	4712990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4712990G>A	ENST00000263088.6	+	8	750	c.619G>A	c.(619-621)Ggg>Agg	p.G207R	PLD2_ENST00000572940.1_Missense_Mutation_p.G207R|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	207	PH.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCACAGGGAGGGGATGATCCG	0.597																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(619-621)Ggg>Agg		phospholipase D2	Choline(DB00122)						104.0	108.0	107.0					17																	4712990		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712990G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.619G>A	17.37:g.4712990G>A	ENSP00000263088:p.Gly207Arg					PLD2_ENST00000572940.1_Missense_Mutation_p.G207R	p.G207R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			8	750	+			207			PH.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.619G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861649	0.71949	.	.	ENSG00000129219	ENST00000263088	T	0.09538	2.97	5.63	5.63	0.86233	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.994	T	0.44651	-0.9314	10	0.87932	D	0	-28.1421	17.1642	0.86811	0.0:0.0:1.0:0.0	.	64;207;207	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	R	207	ENSP00000263088:G207R	ENSP00000263088:G207R	G	+	1	0	PLD2	4659954	1.000000	0.71417	0.995000	0.50966	0.260000	0.26232	8.734000	0.91543	2.659000	0.90383	0.561000	0.74099	GGG		0.597	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		41	124	0	0	0	1	0	41	124				
CCDC148	130940	broad.mit.edu	37	2	159170384	159170384	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:159170384C>T	ENST00000283233.5	-	8	1100	c.787G>A	c.(787-789)Gac>Aac	p.D263N	CCDC148_ENST00000536771.1_Missense_Mutation_p.D177N|CCDC148_ENST00000409187.1_Missense_Mutation_p.D272N	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	263										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCCAGTGGTCTTCTTCACTT	0.378																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(787-789)Gac>Aac		coiled-coil domain containing 148							101.0	101.0	101.0					2																	159170384		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159170384C>T		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.787G>A	2.37:g.159170384C>T	ENSP00000283233:p.Asp263Asn					CCDC148_ENST00000409187.1_Missense_Mutation_p.D272N|CCDC148_ENST00000536771.1_Missense_Mutation_p.D177N	p.D263N	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			8	1100	-			263					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.787G>A	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001305	0.74818	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.52295	1.08;1.07;0.67	5.35	4.47	0.54385	.	.	.	.	.	T	0.53174	0.1780	L	0.59436	1.845	0.29615	N	0.846671	P;P;P;P;P	0.42692	0.787;0.592;0.787;0.665;0.665	P;B;P;B;B	0.46758	0.526;0.403;0.526;0.429;0.429	T	0.55939	-0.8061	9	0.72032	D	0.01	-5.4286	13.1877	0.59691	0.1609:0.8391:0.0:0.0	.	177;111;111;272;263	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	N	263;111;272;177	ENSP00000283233:D263N;ENSP00000386674:D272N;ENSP00000443740:D177N	ENSP00000283233:D263N	D	-	1	0	CCDC148	158878630	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.366000	0.66122	1.253000	0.44018	0.563000	0.77884	GAC		0.378	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		14	32	0	0	0	1	0	14	32				
SRCAP	10847	broad.mit.edu	37	16	30740371	30740371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30740371G>A	ENST00000262518.4	+	26	6128	c.5743G>A	c.(5743-5745)Gca>Aca	p.A1915T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A1853T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A1757T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1915					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGGGCCCTGGCACCTGTGTA	0.607																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5743-5745)Gca>Aca		Snf2-related CREBBP activator protein							65.0	65.0	65.0					16																	30740371		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30740371G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5743G>A	16.37:g.30740371G>A	ENSP00000262518:p.Ala1915Thr					SRCAP_ENST00000395059.2_Missense_Mutation_p.A1853T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A1757T	p.A1915T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		26	6128	+			1915					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.5743G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442288	0.43326	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90844	-2.72;-2.74;-2.74	5.93	4.95	0.65309	.	0.123586	0.36815	N	0.002392	D	0.86226	0.5882	L	0.32530	0.975	0.28083	N	0.932127	B;B	0.31548	0.328;0.22	B;B	0.34242	0.178;0.086	T	0.78234	-0.2283	10	0.30854	T	0.27	-10.9916	15.1563	0.72746	0.0:0.0:0.8575:0.1425	.	1853;1915	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	1915;1853;1757	ENSP00000262518:A1915T;ENSP00000378499:A1853T;ENSP00000343042:A1757T	ENSP00000262518:A1915T	A	+	1	0	SRCAP	30647872	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.497000	0.53295	1.456000	0.47831	0.591000	0.81541	GCA		0.607	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		32	62	0	0	0	1	0	32	62				
ZSCAN31	64288	broad.mit.edu	37	6	28294290	28294290	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:28294290C>T	ENST00000414429.1	-	8	1777	c.874G>A	c.(874-876)Gag>Aag	p.E292K	ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E292K|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E292K|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E292K|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.E133K			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	292					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)										TAGGGTTTCTCTCCAGTGTGG	0.507																																						ENST00000414429.1																			0											c.(874-876)Gag>Aag		zinc finger and SCAN domain containing 31							128.0	118.0	122.0					6																	28294290		2203	4300	6503	SO:0001583	missense	64288							g.chr6:28294290C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.874G>A	6.37:g.28294290C>T	ENSP00000390076:p.Glu292Lys					ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E292K|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E292K|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.E133K|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E292K	p.E292K							8	1777	-								Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.874G>A	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692706	0.96793	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	4.79	4.79	0.61399	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27205	0.0667	L	0.41079	1.255	0.43936	D	0.996591	P	0.40534	0.72	P	0.52386	0.697	T	0.03453	-1.1035	9	0.62326	D	0.03	.	16.9644	0.86281	0.0:1.0:0.0:0.0	.	292	Q96LW9	ZN323_HUMAN	K	292;292;292;133;292;133	ENSP00000380050:E292K;ENSP00000413705:E292K;ENSP00000390076:E292K;ENSP00000402937:E133K;ENSP00000345339:E292K;ENSP00000391235:E133K	ENSP00000345339:E292K	E	-	1	0	ZNF323	28402269	0.913000	0.31002	0.999000	0.59377	0.996000	0.88848	1.918000	0.40006	2.339000	0.79563	0.585000	0.79938	GAG		0.507	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		17	108	0	0	0	1	0	17	108				
GRSF1	2926	broad.mit.edu	37	4	71691951	71691951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:71691951C>T	ENST00000254799.6	-	7	1264	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	GRSF1_ENST00000439371.1_Missense_Mutation_p.E221K|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.E221K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E265K	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	383					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TCTGGCACCTCCTTAGGCAAT	0.413																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1147-1149)Gag>Aag		G-rich RNA sequence binding factor 1							58.0	58.0	58.0					4																	71691951		1845	4092	5937	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691951C>T	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1147G>A	4.37:g.71691951C>T	ENSP00000254799:p.Glu383Lys					GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.E221K|GRSF1_ENST00000439371.1_Missense_Mutation_p.E221K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E265K	p.E383K	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		7	1264	-		all_hematologic(202;0.21)	383					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1147G>A	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986924	0.53934	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.19394	2.17;2.25;2.15;2.25;2.21	5.81	4.97	0.65823	.	0.143594	0.52532	D	0.000063	T	0.12944	0.0314	L	0.27053	0.805	0.41863	D	0.990238	B;B	0.28801	0.146;0.223	B;B	0.22753	0.024;0.041	T	0.13845	-1.0494	10	0.19147	T	0.46	-9.9576	9.714	0.40263	0.0:0.786:0.1402:0.0738	.	296;383	B7Z5F9;Q12849	.;GRSF1_HUMAN	K	383;221;315;356;221;265	ENSP00000254799:E383K;ENSP00000389219:E221K;ENSP00000427354:E356K;ENSP00000425430:E221K;ENSP00000443380:E265K	ENSP00000254799:E383K	E	-	1	0	GRSF1	71910815	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.995000	0.49441	1.464000	0.47987	0.557000	0.71058	GAG		0.413	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		16	30	0	0	0	1	0	16	30				
NCK1	4690	broad.mit.edu	37	3	136664742	136664742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:136664742G>A	ENST00000481752.1	+	3	708	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	NCK1_ENST00000288986.2_Missense_Mutation_p.V182I|NCK1_ENST00000469404.1_Missense_Mutation_p.V118I			P16333	NCK1_HUMAN	NCK adaptor protein 1	182					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						ATTAGCAGCAGTCGTCAATAA	0.428																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(352-354)Gtc>Atc		NCK adaptor protein 1							199.0	195.0	197.0					3																	136664742		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664742G>A	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.544G>A	3.37:g.136664742G>A	ENSP00000417273:p.Val182Ile					NCK1_ENST00000481752.1_Missense_Mutation_p.V182I|NCK1_ENST00000288986.2_Missense_Mutation_p.V182I	p.V118I	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			2	443	+			182			SH3 2.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.352G>A	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163538	0.38217	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404	T;T;T	0.68479	-0.27;-0.27;-0.33	6.16	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	L	0.39898	1.24	0.53005	D	0.999967	B;B	0.20368	0.044;0.029	B;B	0.23716	0.048;0.01	T	0.55114	-0.8191	10	0.37606	T	0.19	-12.2417	13.208	0.59809	0.076:0.0:0.924:0.0	.	118;182	B7Z751;P16333	.;NCK1_HUMAN	I	182;182;118	ENSP00000288986:V182I;ENSP00000417273:V182I;ENSP00000419631:V118I	ENSP00000288986:V182I	V	+	1	0	NCK1	138147432	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.158000	0.77470	1.629000	0.50426	0.650000	0.86243	GTC		0.428	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		8	70	0	0	0	1	0	8	70				
DAAM1	23002	broad.mit.edu	37	14	59827520	59827520	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:59827520C>T	ENST00000395125.1	+	22	2687	c.2664C>T	c.(2662-2664)aaC>aaT	p.N888N	DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000351081.1_Splice_Site_p.N888N|DAAM1_ENST00000360909.3_Splice_Site_p.N878N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	888	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTACAACAGCATGACTGAGC	0.343																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.e22-1		dishevelled associated activator of morphogenesis 1							148.0	134.0	139.0					14																	59827520		2203	4300	6503	SO:0001630	splice_region_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59827520C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2664-1C>T	14.37:g.59827520C>T						DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000360909.3_Splice_Site_p.N878_splice|DAAM1_ENST00000351081.1_Splice_Site_p.N888_splice	p.N888_splice	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	22	2687	+			888			FH2.		Q86U34|Q8N1Z8|Q8TB39	Splice_Site	SNP	ENST00000395125.1	37	c.2663_splice	CCDS9737.1																																																																																				0.343	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	Silent	8	50	0	0	0	1	0	8	50				
OSBP	5007	broad.mit.edu	37	11	59376017	59376017	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:59376017C>T	ENST00000263847.1	-	3	1241	c.762G>A	c.(760-762)aaG>aaA	p.K254K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	254					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTGTTTGATCTTTTCATTGC	0.473																																						ENST00000263847.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(760-762)aaG>aaA		oxysterol binding protein							187.0	163.0	171.0					11																	59376017		2201	4295	6496	SO:0001819	synonymous_variant	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59376017C>T	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.762G>A	11.37:g.59376017C>T							p.K254K	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	3	1241	-		all_epithelial(135;0.000236)	254					Q6P524	Silent	SNP	ENST00000263847.1	37	c.762G>A	CCDS7974.1																																																																																				0.473	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			42	105	0	0	0	1	0	42	105				
SGSM3	27352	broad.mit.edu	37	22	40801813	40801813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:40801813C>T	ENST00000248929.9	+	8	968	c.779C>T	c.(778-780)cCt>cTt	p.P260L	SGSM3_ENST00000454798.2_Missense_Mutation_p.P193L	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CAGTACCTGCCTCGCCTGGAC	0.632																																						ENST00000248929.9																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(778-780)cCt>cTt		small G protein signaling modulator 3							57.0	56.0	56.0					22																	40801813		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40801813C>T	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.779C>T	22.37:g.40801813C>T	ENSP00000248929:p.Pro260Leu					SGSM3_ENST00000454798.2_Missense_Mutation_p.P193L	p.P260L	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			8	968	+			260			Rab-GAP TBC.			Missense_Mutation	SNP	ENST00000248929.9	37	c.779C>T	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321446	0.81580	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.19394	2.15;2.15;2.15	4.78	4.78	0.61160	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	H	0.96943	3.91	0.80722	D	1	D;D;D;D;D	0.89917	0.992;0.992;1.0;0.997;0.997	D;D;D;D;D	0.70487	0.969;0.969;0.969;0.939;0.939	T	0.77550	-0.2546	10	0.87932	D	0	.	18.1887	0.89800	0.0:1.0:0.0:0.0	.	197;193;260;260;260	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	L	193;260;203;193	ENSP00000399249:P193L;ENSP00000248929:P260L;ENSP00000390998:P193L	ENSP00000248929:P260L	P	+	2	0	SGSM3	39131759	0.999000	0.42202	1.000000	0.80357	0.675000	0.39556	7.433000	0.80362	2.401000	0.81631	0.313000	0.20887	CCT		0.632	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		8	84	0	0	0	1	0	8	84				
ANKFN1	162282	broad.mit.edu	37	17	54559746	54559746	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:54559746G>A	ENST00000318698.2	+	17	2165	c.2130G>A	c.(2128-2130)gaG>gaA	p.E710E	ANKFN1_ENST00000566473.2_Silent_p.E710E	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	710										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACACACAGGAGGTGTTGGAAA	0.507																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2128-2130)gaG>gaA		ankyrin-repeat and fibronectin type III domain containing 1							169.0	155.0	160.0					17																	54559746		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54559746G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2130G>A	17.37:g.54559746G>A						ANKFN1_ENST00000318698.2_Silent_p.E710E	p.E710E			Q8N957	ANKF1_HUMAN			17	2130	+			710						Silent	SNP	ENST00000318698.2	37	c.2130G>A	CCDS32686.1																																																																																				0.507	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		43	99	0	0	0	1	0	43	99				
CC2D1A	54862	broad.mit.edu	37	19	14037337	14037337	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:14037337C>T	ENST00000318003.7	+	18	2189	c.1948C>T	c.(1948-1950)Cct>Tct	p.P650S	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P650S	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	650	C2.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AAGGATCTTCCCTGACCTCAG	0.642																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1948-1950)Cct>Tct		coiled-coil and C2 domain containing 1A							45.0	47.0	46.0					19																	14037337		2081	4214	6295	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14037337C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1948C>T	19.37:g.14037337C>T	ENSP00000313601:p.Pro650Ser					CC2D1A_ENST00000589606.1_Missense_Mutation_p.P650S	p.P650S	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		18	2189	+			650			C2.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1948C>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	C	9.752	1.167750	0.21621	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.28069	1.63	4.04	3.0	0.34707	C2 calcium/lipid-binding domain, CaLB (1);	0.362041	0.28431	N	0.015363	T	0.32763	0.0840	N	0.16266	0.395	0.50171	D	0.999855	B;D;P	0.89917	0.402;1.0;0.911	B;D;P	0.87578	0.119;0.998;0.505	T	0.03641	-1.1017	10	0.13470	T	0.59	-10.0914	10.6841	0.45833	0.0:0.9037:0.0:0.0963	.	272;650;650	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	S	650;273	ENSP00000313601:P650S	ENSP00000254346:P273S	P	+	1	0	CC2D1A	13898337	0.937000	0.31787	0.998000	0.56505	0.971000	0.66376	0.950000	0.29122	0.923000	0.37045	-0.258000	0.10820	CCT		0.642	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		12	20	0	0	0	1	0	12	20				
MAP7D1	55700	broad.mit.edu	37	1	36645848	36645848	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36645848G>A	ENST00000373151.2	+	17	2731		c.e17-1		MAP7D1_ENST00000373150.4_Splice_Site|MAP7D1_ENST00000316156.4_Splice_Site|MAP7D1_ENST00000373148.4_Splice_Site	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1						microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				TTTTTCCCCAGAAGTCCTTTA	0.547																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.e16-1		MAP7 domain containing 1							205.0	190.0	195.0					1																	36645848		2203	4300	6503	SO:0001630	splice_region_variant	55700					cytoplasm|spindle		g.chr1:36645848G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.2516-1G>A	1.37:g.36645848G>A						MAP7D1_ENST00000373150.4_Splice_Site|MAP7D1_ENST00000373151.2_Splice_Site|MAP7D1_ENST00000373148.4_Splice_Site				Q3KQU3	MA7D1_HUMAN			16	2854	+		Myeloproliferative disorder(586;0.0393)						D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Splice_Site	SNP	ENST00000373151.2	37		CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024430	0.54683	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373153;ENST00000373148	.	.	.	5.76	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7319	0.40366	0.0915:0.0:0.9085:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP7D1	36418435	0.997000	0.39634	1.000000	0.80357	0.945000	0.59286	3.591000	0.53986	2.732000	0.93576	0.655000	0.94253	.		0.547	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067	Intron	69	101	0	0	0	1	0	69	101				
LRRC24	441381	broad.mit.edu	37	8	145748718	145748718	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145748718G>A	ENST00000529415.2	-	5	800	c.683C>T	c.(682-684)aCc>aTc	p.T228I	LRRC24_ENST00000533758.1_Missense_Mutation_p.T225I|LRRC14_ENST00000528528.1_Splice_Site|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	228	LRRCT.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTCCCTGGAGGTGAGCAGCCG	0.652																																						ENST00000529415.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(1)	5						c.(682-684)aCc>aTc		leucine rich repeat containing 24							19.0	19.0	19.0					8																	145748718		2195	4292	6487	SO:0001583	missense	441381					integral to membrane		g.chr8:145748718G>A	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.683C>T	8.37:g.145748718G>A	ENSP00000434849:p.Thr228Ile					LRRC24_ENST00000533758.1_Missense_Mutation_p.T225I|LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Splice_Site	p.T228I			Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	800	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		228			LRRCT.			Missense_Mutation	SNP	ENST00000529415.2	37	c.683C>T	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209347	0.58343	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.53206	0.63;4.32	4.84	3.02	0.34903	Cysteine-rich flanking region, C-terminal (1);	0.090810	0.85682	D	0.000000	T	0.32041	0.0816	L	0.34521	1.04	0.29297	N	0.868987	P;B	0.34977	0.478;0.121	B;B	0.29353	0.101;0.043	T	0.19910	-1.0291	10	0.46703	T	0.11	.	9.5657	0.39396	0.1573:0.6848:0.1578:0.0	.	225;228	G3V1D8;Q50LG9	.;LRC24_HUMAN	I	228;225	ENSP00000434849:T228I;ENSP00000435653:T225I	ENSP00000434849:T228I	T	-	2	0	LRRC24	145719526	1.000000	0.71417	0.698000	0.30274	0.843000	0.47879	2.195000	0.42677	0.635000	0.30488	-0.270000	0.10280	ACC		0.652	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		8	17	0	0	0	1	0	8	17				
PGBD1	84547	broad.mit.edu	37	6	28269720	28269720	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:28269720C>T	ENST00000405948.2	+	7	2509	c.2089C>T	c.(2089-2091)Ctg>Ttg	p.L697L	PGBD1_ENST00000259883.3_Silent_p.L697L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	697						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CATTATCAGTCTGTGCTCCAA	0.383																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2089-2091)Ctg>Ttg		piggyBac transposable element derived 1							178.0	174.0	175.0					6																	28269720		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269720C>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2089C>T	6.37:g.28269720C>T						PGBD1_ENST00000259883.3_Silent_p.L697L	p.L697L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	2509	+			697					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.2089C>T	CCDS4648.1																																																																																				0.383	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			4	90	0	0	0	1	0	4	90				
SALL1	6299	broad.mit.edu	37	16	51175990	51175990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:51175990C>T	ENST00000251020.4	-	2	176	c.143G>A	c.(142-144)tGc>tAc	p.C48Y	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	48					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCGGCACAGCACCGGCCACA	0.438																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000251020.4																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(142-144)tGc>tAc		spalt-like transcription factor 1							94.0	99.0	97.0					16																	51175990		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175990C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.143G>A	16.37:g.51175990C>T	ENSP00000251020:p.Cys48Tyr					SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.C48Y	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	176	-		all_cancers(37;0.0322)	48					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.143G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860068	0.71834	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.54071	0.59	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.80957	-0.1150	10	0.87932	D	0	.	19.1099	0.93313	0.0:1.0:0.0:0.0	.	48	Q9NSC2	SALL1_HUMAN	Y	48	ENSP00000251020:C48Y	ENSP00000251020:C48Y	C	-	2	0	SALL1	49733491	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.499000	0.84300	0.555000	0.69702	TGC		0.438	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		47	100	0	0	0	1	0	47	100				
VPS39	23339	broad.mit.edu	37	15	42454304	42454304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42454304C>T	ENST00000348544.4	-	24	2418	c.2419G>A	c.(2419-2421)Gtc>Atc	p.V807I	VPS39_ENST00000318006.5_Missense_Mutation_p.V796I			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	807					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TCTTCCAAGACCTTTTCCAGG	0.478																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2386-2388)Gtc>Atc		vacuolar protein sorting 39 homolog (S. cerevisiae)							173.0	157.0	162.0					15																	42454304		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42454304C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2419G>A	15.37:g.42454304C>T	ENSP00000335193:p.Val807Ile					VPS39_ENST00000348544.4_Missense_Mutation_p.V807I	p.V796I	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	23	2548	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	807					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.2386G>A	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951034	0.73787	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.41400	1.0;1.01	5.21	5.21	0.72293	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.058064	0.64402	N	0.000002	T	0.41143	0.1146	L	0.43152	1.355	0.80722	D	1	B;B	0.14805	0.011;0.009	B;B	0.25291	0.059;0.035	T	0.16512	-1.0400	10	0.33141	T	0.24	-13.9419	19.1199	0.93358	0.0:1.0:0.0:0.0	.	807;796	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	I	796;807	ENSP00000326534:V796I;ENSP00000335193:V807I	ENSP00000326534:V796I	V	-	1	0	VPS39	40241596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.427000	0.80284	2.598000	0.87819	0.561000	0.74099	GTC		0.478	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		38	53	0	0	0	1	0	38	53				
PRB3	5544	broad.mit.edu	37	12	11420142	11420142	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:11420142C>T	ENST00000381842.3	-	5	951	c.914G>A	c.(913-915)gGa>gAa	p.G305E	PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000538488.1_Missense_Mutation_p.G305E|PRB3_ENST00000279573.7_3'UTR	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	305	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGAGGCTGTCCCTGGGGAGG	0.547																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							85.0	95.0	92.0					12																	11420142		2200	4299	6499	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420142C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000381842.3:c.914G>A	12.37:g.11420142C>T	ENSP00000371264:p.Gly305Glu					PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	951	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000381842.3	37			.	.	.	.	.	.	.	.	.	.	.	6.905	0.536456	0.13188	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.04119	3.86;3.7	1.5	-1.85	0.07784	.	.	.	.	.	T	0.03136	0.0092	.	.	.	0.09310	N	1	P	0.34587	0.458	B	0.28232	0.087	T	0.38824	-0.9643	8	0.46703	T	0.11	.	5.1973	0.15245	0.0:0.4272:0.0:0.5728	.	305	Q04118	PRB3_HUMAN	E	305	ENSP00000371264:G305E;ENSP00000442626:G305E	ENSP00000371264:G305E	G	-	2	0	PRB3	11311409	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.298000	0.08265	-0.634000	0.05538	-0.683000	0.03753	GGA		0.547	PRB3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006249		37	77	0	0	0	1	0	37	77				
HCAR2	338442	broad.mit.edu	37	12	123187003	123187003	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123187003G>A	ENST00000328880.5	-	1	887	c.828C>T	c.(826-828)ttC>ttT	p.F276F	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	276					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	GAGTGATAAAGAACGCCAGGT	0.542																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(826-828)ttC>ttT		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						40.0	35.0	37.0					12																	123187003		2203	4294	6497	SO:0001819	synonymous_variant	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187003G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.828C>T	12.37:g.123187003G>A						RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.F276F	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	887	-			276					A0PJL5|A7LGG3	Silent	SNP	ENST00000328880.5	37	c.828C>T	CCDS9235.1																																																																																				0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		3	51	0	0	0	1	0	3	51				
COL4A6	1288	broad.mit.edu	37	X	107431903	107431903	+	Silent	SNP	G	G	A	rs139740946		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:107431903G>A	ENST00000372216.4	-	21	1534	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D	COL4A6_ENST00000334504.7_Silent_p.D477D|COL4A6_ENST00000545689.1_Silent_p.D477D|COL4A6_ENST00000394872.2_Silent_p.D478D|COL4A6_ENST00000538570.1_Silent_p.D477D	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	478	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGAAACCTGAGTCTCCTGGGA	0.478									Alport syndrome with Diffuse Leiomyomatosis				G|||	24	0.00635762	0.0	0.0	3775	,	,		14419	0.0238		0.0	False		,,,				2504	0.0				Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1432-1434)gaC>gaT		collagen, type IV, alpha 6							35.0	37.0	36.0					X																	107431903		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107431903G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1434C>T	X.37:g.107431903G>A						COL4A6_ENST00000372216.4_Silent_p.D478D|COL4A6_ENST00000545689.1_Silent_p.D477D|COL4A6_ENST00000334504.7_Silent_p.D477D|COL4A6_ENST00000538570.1_Silent_p.D477D	p.D478D			Q14031	CO4A6_HUMAN			21	1665	-			478			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.1434C>T	CCDS14541.1																																																																																				0.478	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			4	45	0	0	0	1	0	4	45				
VIL1	7429	broad.mit.edu	37	2	219294387	219294387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219294387C>T	ENST00000248444.5	+	8	926	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	VIL1_ENST00000440053.1_Missense_Mutation_p.L280F|VIL1_ENST00000392114.2_5'UTR	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	280	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGGACCTGCTCAGTCACGA	0.607																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(838-840)Ctc>Ttc		villin 1							67.0	68.0	68.0					2																	219294387		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219294387C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.838C>T	2.37:g.219294387C>T	ENSP00000248444:p.Leu280Phe					VIL1_ENST00000440053.1_Missense_Mutation_p.L280F|VIL1_ENST00000392114.2_5'UTR	p.L280F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	926	+		Renal(207;0.0474)	280			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.838C>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805471	0.50315	.	.	ENSG00000127831	ENST00000248444;ENST00000440053	T;T	0.57752	0.38;0.38	4.7	4.7	0.59300	Gelsolin domain (1);	0.207947	0.33144	N	0.005237	T	0.73853	0.3640	M	0.87097	2.86	0.53005	D	0.999961	D;D	0.76494	0.999;0.998	D;D	0.74348	0.983;0.969	T	0.78568	-0.2154	10	0.87932	D	0	-21.5691	12.2751	0.54730	0.0:0.9152:0.0:0.0848	.	280;280	Q96AC8;P09327	.;VILI_HUMAN	F	280	ENSP00000248444:L280F;ENSP00000409270:L280F	ENSP00000248444:L280F	L	+	1	0	VIL1	219002631	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	4.614000	0.61183	2.458000	0.83093	0.561000	0.74099	CTC		0.607	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		27	52	0	0	0	1	0	27	52				
SLC6A17	388662	broad.mit.edu	37	1	110740856	110740856	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:110740856C>T	ENST00000331565.4	+	12	2459	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	658					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACAAGAAGGGCCGCATGATGA	0.607																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1972-1974)ggC>ggT		solute carrier family 6 (neutral amino acid transporter), member 17							125.0	97.0	106.0					1																	110740856		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110740856C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1974C>T	1.37:g.110740856C>T							p.G658G	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	12	2459	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	658					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.1974C>T	CCDS30799.1																																																																																				0.607	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		18	22	0	0	0	1	0	18	22				
PLXNB3	5365	broad.mit.edu	37	X	153042386	153042386	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153042386T>C	ENST00000361971.5	+	29	4992	c.4878T>C	c.(4876-4878)cgT>cgC	p.R1626R	PLXNB3_ENST00000538776.1_Silent_p.R1279R|PLXNB3_ENST00000538966.1_Silent_p.R1649R|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1626					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGCACCGTGGCAGCACCA	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(4945-4947)cgT>cgC		plexin B3							34.0	32.0	32.0					X																	153042386		2196	4292	6488	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153042386T>C	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4878T>C	X.37:g.153042386T>C						SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Silent_p.R1279R|PLXNB3_ENST00000361971.5_Silent_p.R1626R	p.R1649R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			30	5218	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1626					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.4947T>C	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.821|0.821	-0.748678|-0.748678	0.03065|0.03065	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000411613|ENST00000455214	.|.	.|.	.|.	4.92|4.92	-9.84|-9.84	0.00479|0.00479	.|.	.|.	.|.	.|.	.|.	T|T	0.37865|0.37865	0.1019|0.1019	.|.	.|.	.|.	0.20563|0.20563	N|N	0.999884|0.999884	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45381|0.45381	-0.9265|-0.9265	4|4	.|.	.|.	.|.	.|.	15.0759|15.0759	0.72077|0.72077	0.0:0.1518:0.0829:0.7652|0.0:0.1518:0.0829:0.7652	.|.	.|.	.|.	.|.	A|R	250|130	.|.	.|.	V|W	+|+	2|1	0|0	PLXNB3|PLXNB3	152695580|152695580	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.632000|-1.632000	0.02024|0.02024	-2.618000|-2.618000	0.00441|0.00441	-1.125000|-1.125000	0.01998|0.01998	GTG|TGG		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			6	5	0	0	0	1	0	6	5				
WAC	51322	broad.mit.edu	37	10	28899660	28899660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:28899660C>T	ENST00000354911.4	+	9	1359	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	WAC_ENST00000375664.4_Nonsense_Mutation_p.Q355*|WAC_ENST00000375646.1_Nonsense_Mutation_p.Q248*|WAC_ENST00000347934.4_Nonsense_Mutation_p.Q297*|WAC_ENST00000428935.1_Nonsense_Mutation_p.Q355*	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	400					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGCCTCACTGCAGTCTATAAT	0.373																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(1063-1065)Cag>Tag		WW domain containing adaptor with coiled-coil							162.0	156.0	158.0					10																	28899660		2203	4300	6503	SO:0001587	stop_gained	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28899660C>T	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1198C>T	10.37:g.28899660C>T	ENSP00000346986:p.Gln400*					WAC_ENST00000428935.1_Nonsense_Mutation_p.Q355*|WAC_ENST00000347934.4_Nonsense_Mutation_p.Q297*|WAC_ENST00000375646.1_Nonsense_Mutation_p.Q248*|WAC_ENST00000354911.4_Nonsense_Mutation_p.Q400*	p.Q355*			Q9BTA9	WAC_HUMAN			9	1672	+			400					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Nonsense_Mutation	SNP	ENST00000354911.4	37	c.1063C>T	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	38	7.179550	0.98118	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935	.	.	.	5.58	5.58	0.84498	.	0.100901	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-7.4588	19.9414	0.97163	0.0:1.0:0.0:0.0	.	.	.	.	X	355;248;297;400;355	.	ENSP00000311106:Q297X	Q	+	1	0	WAC	28939666	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.779000	0.95612	0.650000	0.86243	CAG		0.373	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		44	168	0	0	0	1	0	44	168				
ERBB2	2064	broad.mit.edu	37	17	37876049	37876049	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:37876049C>T	ENST00000269571.5	+	16	2067	c.1908C>T	c.(1906-1908)gaC>gaT	p.D636D	ERBB2_ENST00000584601.1_Silent_p.D606D|ERBB2_ENST00000445658.2_Silent_p.D360D|ERBB2_ENST00000540147.1_Silent_p.D606D|ERBB2_ENST00000541774.1_Silent_p.D621D|ERBB2_ENST00000584450.1_Silent_p.D636D|ERBB2_ENST00000406381.2_Silent_p.D606D			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	636					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCTGTGTGGACCTGGATGACA	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(1816-1818)gaC>gaT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						179.0	146.0	157.0					17																	37876049		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37876049C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1908C>T	17.37:g.37876049C>T		TCGA GBM(5;<1E-08)				ERBB2_ENST00000269571.5_Silent_p.D636D|ERBB2_ENST00000584601.1_Silent_p.D606D|ERBB2_ENST00000584450.1_Silent_p.D636D|ERBB2_ENST00000445658.2_Silent_p.D360D|ERBB2_ENST00000541774.1_Silent_p.D621D|ERBB2_ENST00000540147.1_Silent_p.D606D	p.D606D	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	18	2328	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	636					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.1818C>T	CCDS32642.1																																																																																				0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			16	43	0	0	0	1	0	16	43				
PXMP4	11264	broad.mit.edu	37	20	32295657	32295657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:32295657C>T	ENST00000409299.3	-	4	586	c.494G>A	c.(493-495)gGg>gAg	p.G165E	PXMP4_ENST00000217398.3_3'UTR|PXMP4_ENST00000344022.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	165						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CAGCACCAGCCCCCACACCAC	0.612																																						ENST00000409299.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(493-495)gGg>gAg		peroxisomal membrane protein 4, 24kDa							107.0	99.0	102.0					20																	32295657		2203	4300	6503	SO:0001583	missense	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32295657C>T	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.494G>A	20.37:g.32295657C>T	ENSP00000386385:p.Gly165Glu					PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	p.G165E	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN			4	586	-			165					A2A2I7|Q9H0T4	Missense_Mutation	SNP	ENST00000409299.3	37	c.494G>A	CCDS13225.1	.	.	.	.	.	.	.	.	.	.	c	35	5.571993	0.96553	.	.	ENSG00000101417	ENST00000409299	T	0.50548	0.74	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79208	-0.1898	10	0.87932	D	0	-24.0129	20.2013	0.98260	0.0:1.0:0.0:0.0	.	165	Q9Y6I8	PXMP4_HUMAN	E	165	ENSP00000386385:G165E	ENSP00000386385:G165E	G	-	2	0	PXMP4	31759318	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.763000	0.85283	2.779000	0.95612	0.638000	0.83543	GGG		0.612	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		26	76	0	0	0	1	0	26	76				
ABHD2	11057	broad.mit.edu	37	15	89738646	89738646	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:89738646C>T	ENST00000352732.5	+	11	1790	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	ABHD2_ENST00000355100.3_Silent_p.L424L|ABHD2_ENST00000565973.1_Silent_p.L424L	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	424					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GGAGGCCGACCTGGAGTGAGG	0.612																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(1270-1272)Ctg>Ttg		abhydrolase domain containing 2							48.0	44.0	45.0					15																	89738646		2200	4299	6499	SO:0001819	synonymous_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89738646C>T	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1270C>T	15.37:g.89738646C>T						ABHD2_ENST00000565973.1_Silent_p.L424L|ABHD2_ENST00000355100.3_Silent_p.L424L	p.L424L	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			11	1790	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		424					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	c.1270C>T	CCDS10348.1																																																																																				0.612	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			7	24	0	0	0	1	0	7	24				
ATP5S	27109	broad.mit.edu	37	14	50779771	50779771	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:50779771C>T	ENST00000311459.7	+	1	413	c.33C>T	c.(31-33)acC>acT	p.T11T	L2HGDH_ENST00000421284.3_5'Flank|L2HGDH_ENST00000556393.1_5'Flank|L2HGDH_ENST00000261699.4_5'Flank|ATP5S_ENST00000426751.2_Silent_p.T11T|L2HGDH_ENST00000555423.1_5'Flank|ATP5S_ENST00000245448.6_Silent_p.T11T|ATP5S_ENST00000554438.1_Intron|L2HGDH_ENST00000555610.1_5'Flank|L2HGDH_ENST00000267436.4_5'Flank	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	11	N-terminal domain.				ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		AGCGACTCAcctgtgcaggtc	0.438																																						ENST00000245448.6																			0				breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12						c.(31-33)acC>acT		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)							105.0	91.0	96.0					14																	50779771		2203	4300	6503	SO:0001819	synonymous_variant	27109				ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr14:50779771C>T	U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.33C>T	14.37:g.50779771C>T						ATP5S_ENST00000426751.2_Silent_p.T11T|ATP5S_ENST00000311459.7_Silent_p.T11T|ATP5S_ENST00000554438.1_Intron	p.T11T	NM_001003805.2	NP_001003805.1	Q99766	ATP5S_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.0685)	1	725	+	all_epithelial(31;0.000636)|Breast(41;0.0102)		11					A8K1U3|D9N156|Q8WWX3|Q96F77	Silent	SNP	ENST00000311459.7	37	c.33C>T	CCDS32075.1																																																																																				0.438	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1	NM_015684		12	68	0	0	0	1	0	12	68				
PMEL	6490	broad.mit.edu	37	12	56351122	56351122	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56351122G>A	ENST00000548747.1	-	6	1627	c.965C>T	c.(964-966)aCc>aTc	p.T322I	PMEL_ENST00000552882.1_Missense_Mutation_p.T322I|PMEL_ENST00000536427.1_Missense_Mutation_p.T322I|PMEL_ENST00000548493.1_Missense_Mutation_p.T322I|PMEL_ENST00000449260.2_Missense_Mutation_p.T322I|PMEL_ENST00000539511.1_Missense_Mutation_p.T236I|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Missense_Mutation_p.T236I|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000360714.4_Missense_Mutation_p.T322I			P40967	PMEL_HUMAN	premelanosome protein	322	10 X 13 AA approximate tandem repeats, RPT domain.				melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCAGCTGTGGTGTTAGGGGC	0.607																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(964-966)aCc>aTc		premelanosome protein							52.0	52.0	52.0					12																	56351122		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351122G>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.965C>T	12.37:g.56351122G>A	ENSP00000448828:p.Thr322Ile					PMEL_ENST00000360714.4_Missense_Mutation_p.T322I|PMEL_ENST00000536427.1_Missense_Mutation_p.T322I|PMEL_ENST00000552882.1_Missense_Mutation_p.T322I|PMEL_ENST00000548493.1_Missense_Mutation_p.T322I|PMEL_ENST00000449260.2_Missense_Mutation_p.T322I|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Missense_Mutation_p.T236I|PMEL_ENST00000539511.1_Missense_Mutation_p.T236I	p.T322I			P40967	PMEL_HUMAN			6	1627	-			322			10 X 13 AA approximate tandem repeats, RPT domain.		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.965C>T	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254517	0.59212	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000548803;ENST00000547137;ENST00000546543	T;T;T;T;T;T;T;T;T;T;T	0.42131	3.01;3.04;3.03;3.04;3.04;3.02;2.62;3.03;0.98;2.41;2.97	5.73	5.73	0.89815	.	0.100641	0.44285	D	0.000468	T	0.60157	0.2247	L	0.46157	1.445	0.46149	D	0.998894	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.993;0.982	T	0.57093	-0.7870	10	0.54805	T	0.06	-6.0072	19.0625	0.93099	0.0:0.0:1.0:0.0	.	236;322;322	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	I	322;322;236;322;322;322;322;236;173;268;273	ENSP00000402758:T322I;ENSP00000449690:T322I;ENSP00000450036:T236I;ENSP00000448828:T322I;ENSP00000447374:T322I;ENSP00000353940:T322I;ENSP00000438695:T322I;ENSP00000445005:T236I;ENSP00000447732:T173I;ENSP00000448849:T268I;ENSP00000446662:T273I	ENSP00000353940:T322I	T	-	2	0	PMEL	54637389	1.000000	0.71417	0.999000	0.59377	0.311000	0.27955	2.228000	0.42981	2.879000	0.98667	0.650000	0.86243	ACC		0.607	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		12	47	0	0	0	1	0	12	47				
C15orf59	388135	broad.mit.edu	37	15	74032738	74032738	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74032738C>T	ENST00000569673.1	-	3	1606	c.402G>A	c.(400-402)ggG>ggA	p.G134G	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.G134G			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	134										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAGGGCCAGCCCCTGGCCGAG	0.632																																						ENST00000569673.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(400-402)ggG>ggA		chromosome 15 open reading frame 59							53.0	58.0	56.0					15																	74032738		2198	4292	6490	SO:0001819	synonymous_variant	388135							g.chr15:74032738C>T		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.402G>A	15.37:g.74032738C>T						C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.G134G	p.G134G			Q2T9L4	CO059_HUMAN			3	1606	-			134						Silent	SNP	ENST00000569673.1	37	c.402G>A	CCDS32289.1																																																																																				0.632	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		39	65	0	0	0	1	0	39	65				
HIST4H4	121504	broad.mit.edu	37	12	14924006	14924006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:14924006C>T	ENST00000539745.1	-	1	59	c.13G>A	c.(13-15)Ggt>Agt	p.G5S	HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	5					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CCACCTTTACCTCGCCCAGAC	0.582																																						ENST00000539745.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						c.(13-15)Ggt>Agt		histone cluster 4, H4							42.0	47.0	45.0					12																	14924006		2203	4300	6503	SO:0001583	missense	121504				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr12:14924006C>T	AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.13G>A	12.37:g.14924006C>T	ENSP00000443017:p.Gly5Ser						p.G5S	NM_175054.2	NP_778224.1	P62805	H4_HUMAN			1	59	-			5					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000539745.1	37	c.13G>A	CCDS8665.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362851	0.82353	.	.	ENSG00000197837	ENST00000539745	.	.	.	4.18	4.18	0.49190	.	0.000000	0.42821	U	0.000650	T	0.72120	0.3421	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74636	-0.3599	6	0.52906	T	0.07	.	14.4212	0.67185	0.0:1.0:0.0:0.0	.	.	.	.	S	5	.	ENSP00000350767:G5S	G	-	1	0	HIST4H4	14815273	0.998000	0.40836	0.020000	0.16555	0.278000	0.26855	4.421000	0.59848	2.333000	0.79357	0.650000	0.86243	GGT		0.582	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		4	55	0	0	0	1	0	4	55				
PRKD2	25865	broad.mit.edu	37	19	47177852	47177852	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:47177852C>T	ENST00000291281.4	-	18	2790	c.2565G>A	c.(2563-2565)agG>agA	p.R855R	PRKD2_ENST00000600194.1_Silent_p.R698R|PRKD2_ENST00000601806.1_Silent_p.R698R|PRKD2_ENST00000433867.1_Silent_p.R855R|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Silent_p.R865R|DACT3-AS1_ENST00000525352.1_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	855					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACCGAGATCCCTGTCCGTGG	0.642																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(2563-2565)agG>agA		protein kinase D2							54.0	40.0	45.0					19																	47177852		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47177852C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2565G>A	19.37:g.47177852C>T						PRKD2_ENST00000600194.1_Silent_p.R698R|PRKD2_ENST00000595515.1_Silent_p.R865R|PRKD2_ENST00000601806.1_Silent_p.R698R|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000291281.4_Silent_p.R855R	p.R855R	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	19	3042	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	855					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.2565G>A	CCDS12689.1																																																																																				0.642	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		18	23	0	0	0	1	0	18	23				
C1orf186	440712	broad.mit.edu	37	1	206241639	206241639	+	Silent	SNP	G	G	A	rs566682570		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:206241639G>A	ENST00000331555.5	-	4	788	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	50						integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGGAACCTGGAGACTGGCCG	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18254	0.0		0.0	False		,,,				2504	0.0					ENST00000331555.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(148-150)ctC>ctT		chromosome 1 open reading frame 186							70.0	69.0	69.0					1																	206241639		2203	4300	6503	SO:0001819	synonymous_variant	440712					integral to membrane		g.chr1:206241639G>A	AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.150C>T	1.37:g.206241639G>A							p.L50L	NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		4	788	-			50						Silent	SNP	ENST00000331555.5	37	c.150C>T	CCDS30995.1																																																																																				0.547	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		18	45	0	0	0	1	0	18	45				
RANBP3L	202151	broad.mit.edu	37	5	36251583	36251583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:36251583C>T	ENST00000296604.3	-	13	1671	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	RANBP3L_ENST00000502994.1_Missense_Mutation_p.A421T	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	396	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TACAAATATGCTGTATCTTGG	0.358																																						ENST00000296604.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16						c.(1186-1188)Gca>Aca		RAN binding protein 3-like							95.0	85.0	88.0					5																	36251583		2203	4300	6503	SO:0001583	missense	202151				intracellular transport			g.chr5:36251583C>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1186G>A	5.37:g.36251583C>T	ENSP00000296604:p.Ala396Thr					RANBP3L_ENST00000502994.1_Missense_Mutation_p.A421T	p.A396T	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		13	1671	-	all_lung(31;4.52e-05)		396			RanBD1.		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.1186G>A	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685110	0.47991	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.25085	1.82;1.83	5.78	4.0	0.46444	Pleckstrin homology-type (1);Ran binding protein 1 (1);	0.355351	0.27654	N	0.018408	T	0.18635	0.0447	N	0.21194	0.64	0.80722	D	1	P;P	0.36392	0.551;0.491	B;B	0.37015	0.239;0.239	T	0.03514	-1.1029	10	0.48119	T	0.1	-5.5895	11.7402	0.51788	0.0:0.8545:0.0:0.1455	.	421;396	E9PGP9;Q86VV4	.;RNB3L_HUMAN	T	396;421	ENSP00000296604:A396T;ENSP00000421853:A421T	ENSP00000296604:A396T	A	-	1	0	RANBP3L	36287340	0.977000	0.34250	0.413000	0.26509	0.510000	0.34073	2.670000	0.46833	0.905000	0.36596	-0.150000	0.13652	GCA		0.358	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		23	51	0	0	0	1	0	23	51				
KIAA1683	80726	broad.mit.edu	37	19	18376133	18376133	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18376133C>T	ENST00000600328.3	-	3	2410	c.2217G>A	c.(2215-2217)ctG>ctA	p.L739L	KIAA1683_ENST00000392413.4_Silent_p.L739L|KIAA1683_ENST00000600359.3_Silent_p.L693L			Q9H0B3	K1683_HUMAN	KIAA1683	739						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCGTCTTGGTCAGACAGGTGG	0.612																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2215-2217)ctG>ctA		KIAA1683							85.0	83.0	83.0					19																	18376133		2203	4300	6503	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18376133C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2217G>A	19.37:g.18376133C>T						KIAA1683_ENST00000600359.2_Silent_p.L693L|KIAA1683_ENST00000600328.2_Silent_p.L739L	p.L739L	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	2432	-			739					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.2217G>A	CCDS32958.1																																																																																				0.612	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			5	78	0	0	0	1	0	5	78				
ZBTB20	26137	broad.mit.edu	37	3	114069708	114069708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:114069708G>A	ENST00000474710.1	-	4	1395	c.1217C>T	c.(1216-1218)cCc>cTc	p.P406L	ZBTB20_ENST00000393785.2_Missense_Mutation_p.P333L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.P333L|ZBTB20_ENST00000462705.1_Missense_Mutation_p.P333L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.P333L|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.P333L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.P333L|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	406						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)			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)		GGGTTGGGTGGGTTCAGCCTG	0.637																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				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						c.(997-999)cCc>cTc		zinc finger and BTB domain containing 20							47.0	50.0	49.0					3																	114069708		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069708G>A	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.1217C>T	3.37:g.114069708G>A	ENSP00000419153:p.Pro406Leu					ZBTB20_ENST00000393785.2_Missense_Mutation_p.P333L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.P333L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.P333L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.P333L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.P406L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.P333L	p.P333L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1819	-			406					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.998C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	4.926	0.172098	0.09391	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99;2.99;2.99	4.9	4.9	0.64082	.	0.652024	0.16006	N	0.234074	T	0.09949	0.0244	N	0.19112	0.55	0.22710	N	0.998821	B	0.15719	0.014	B	0.10450	0.005	T	0.22277	-1.0221	10	0.45353	T	0.12	.	18.2644	0.90048	0.0:0.0:1.0:0.0	.	406	Q9HC78	ZBT20_HUMAN	L	333;333;333;333;406;333;333	ENSP00000420324:P333L;ENSP00000377375:P333L;ENSP00000418092:P333L;ENSP00000419902:P333L;ENSP00000419153:P406L;ENSP00000349803:P333L;ENSP00000417307:P333L	ENSP00000349803:P333L	P	-	2	0	ZBTB20	115552398	0.655000	0.27376	0.013000	0.15412	0.008000	0.06430	2.236000	0.43052	2.560000	0.86352	0.557000	0.71058	CCC		0.637	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		4	78	0	0	0	1	0	4	78				
DYDC1	143241	broad.mit.edu	37	10	82098315	82098315	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:82098315C>T	ENST00000372204.3	-	7	576	c.412G>A	c.(412-414)Gac>Aac	p.D138N	DYDC1_ENST00000372202.1_Missense_Mutation_p.D138N|DYDC1_ENST00000421924.2_Missense_Mutation_p.D138N	NM_138812.3	NP_620167.1	Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	138										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			TTGCCTGAGTCTAGTGTTGCT	0.308																																						ENST00000421924.2																			0				kidney(1)|large_intestine(3)|skin(1)	5						c.(412-414)Gac>Aac		DPY30 domain containing 1							180.0	164.0	169.0					10																	82098315		2203	4300	6503	SO:0001583	missense	143241							g.chr10:82098315C>T	BC019250	CCDS7366.1	10q22.3	2006-02-01			ENSG00000170788	ENSG00000170788			23460	protein-coding gene	gene with protein product		615154					Standard	NM_138812		Approved	bA36D19.5, DPY30D1	uc031pwj.1	Q8WWB3	OTTHUMG00000018609	ENST00000372204.3:c.412G>A	10.37:g.82098315C>T	ENSP00000361278:p.Asp138Asn					DYDC1_ENST00000372202.1_Missense_Mutation_p.D138N|DYDC1_ENST00000372204.3_Missense_Mutation_p.D138N	p.D138N			Q8WWB3	DYDC1_HUMAN	Colorectal(32;0.229)		6	823	-			138					A8K927|Q5QP03|Q5QP04|Q6WNP4|Q6ZU87	Missense_Mutation	SNP	ENST00000372204.3	37	c.412G>A	CCDS7366.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210053	0.39003	.	.	ENSG00000170788	ENST00000372204;ENST00000372202;ENST00000421924;ENST00000454362	.	.	.	4.51	4.51	0.55191	.	0.950582	0.08632	N	0.916924	T	0.41903	0.1179	M	0.63428	1.95	0.09310	N	1	P;P	0.38922	0.651;0.501	B;B	0.32677	0.15;0.081	T	0.39121	-0.9629	9	0.51188	T	0.08	-12.8803	13.4445	0.61134	0.0:1.0:0.0:0.0	.	138;138	A8K927;Q8WWB3	.;DYDC1_HUMAN	N	138	.	ENSP00000361276:D138N	D	-	1	0	DYDC1	82088295	0.082000	0.21442	0.059000	0.19551	0.547000	0.35210	3.151000	0.50670	2.459000	0.83118	0.655000	0.94253	GAC		0.308	DYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049059.1	NM_138812		20	40	0	0	0	1	0	20	40				
DST	667	broad.mit.edu	37	6	56484355	56484355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:56484355C>T	ENST00000370765.6	-	23	4584	c.4477G>A	c.(4477-4479)Gca>Aca	p.A1493T	DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6344					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACAGCATGTGCCCTTGTGATT	0.328																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4477-4479)Gca>Aca		dystonin							95.0	92.0	93.0					6																	56484355		2203	4299	6502	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56484355C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4477G>A	6.37:g.56484355C>T	ENSP00000359801:p.Ala1493Thr					DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron	p.A1493T	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	4584	-	Lung NSC(77;0.103)		5170					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.4477G>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160692	0.01686	.	.	ENSG00000151914	ENST00000370765	T	0.22743	1.94	5.23	1.84	0.25277	.	.	.	.	.	T	0.02688	0.0081	.	.	.	0.09310	N	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45041	-0.9288	7	0.13108	T	0.6	.	3.3713	0.07222	0.2765:0.3162:0.0:0.4073	.	1493	Q03001-3	.	T	1493	ENSP00000359801:A1493T	ENSP00000359801:A1493T	A	-	1	0	DST	56592314	0.263000	0.24083	0.577000	0.28562	0.059000	0.15707	0.547000	0.23299	1.024000	0.39682	0.650000	0.86243	GCA		0.328	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		22	54	0	0	0	1	0	22	54				
GPR125	166647	broad.mit.edu	37	4	22436934	22436934	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:22436934C>T	ENST00000334304.5	-	10	1712	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Splice_Site_p.E255E|GPR125_ENST00000502482.1_Splice_Site_p.E481E	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	481					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)			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)				AGAGAAGTACCTCTTTTGATT	0.333																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.e10+1		G protein-coupled receptor 125							84.0	85.0	85.0					4																	22436934		2203	4300	6503	SO:0001630	splice_region_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22436934C>T	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.1443+1G>A	4.37:g.22436934C>T						GPR125_ENST00000508133.1_Splice_Site_p.E255_splice|GPR125_ENST00000502482.1_Splice_Site_p.E481_splice|GPR125_ENST00000282943.5_5'UTR	p.E481_splice	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			10	1712	-		Breast(46;0.198)	481					Q6UXK9|Q86SQ5|Q8TC55	Splice_Site	SNP	ENST00000334304.5	37	c.1443_splice	CCDS33964.1																																																																																				0.333	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		Silent	6	57	0	0	0	1	0	6	57				
ROBO4	54538	broad.mit.edu	37	11	124755100	124755100	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:124755100G>A	ENST00000306534.3	-	17	3323	c.2838C>T	c.(2836-2838)acC>acT	p.T946T	ROBO4_ENST00000533054.1_Silent_p.T801T|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	946					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGAGGTTGGGGGTCAGGAAGA	0.642																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2836-2838)acC>acT		roundabout, axon guidance receptor, homolog 4 (Drosophila)							48.0	49.0	49.0					11																	124755100		2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124755100G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2838C>T	11.37:g.124755100G>A						RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.T801T	p.T946T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	17	3323	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	946					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.2838C>T	CCDS8455.1																																																																																				0.642	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		18	31	0	0	0	1	0	18	31				
CNTNAP2	26047	broad.mit.edu	37	7	148112611	148112611	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:148112611G>A	ENST00000361727.3	+	24	4415	c.3899G>A	c.(3898-3900)gGg>gAg	p.G1300E	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G359E|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1300					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAAGCAAAGGGGGCGGAGTCG	0.542										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3898-3900)gGg>gAg		contactin associated protein-like 2							96.0	85.0	89.0					7																	148112611		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148112611G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3899G>A	7.37:g.148112611G>A	ENSP00000354778:p.Gly1300Glu	HNSCC(39;0.1)				CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G359E	p.G1300E	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		24	4415	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1300					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3899G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420783	0.42918	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;T	0.89270	-2.49;2.71	5.42	5.42	0.78866	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	L	0.42008	1.315	0.80722	D	1	P	0.43519	0.809	B	0.41036	0.346	T	0.82358	-0.0497	10	0.02654	T	1	.	17.8137	0.88624	0.0:0.0:1.0:0.0	.	1300	Q9UHC6	CNTP2_HUMAN	E	1300;359	ENSP00000354778:G1300E;ENSP00000440732:G359E	ENSP00000354778:G1300E	G	+	2	0	CNTNAP2	147743544	1.000000	0.71417	0.917000	0.36280	0.317000	0.28152	7.747000	0.85070	2.534000	0.85438	0.655000	0.94253	GGG		0.542	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			30	89	0	0	0	1	0	30	89				
OSBP	5007	broad.mit.edu	37	11	59368338	59368338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:59368338C>T	ENST00000263847.1	-	6	1612	c.1133G>A	c.(1132-1134)gGc>gAc	p.G378D		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	378					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GATATTGCTGCCAGTACGTCT	0.458																																						ENST00000263847.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1132-1134)gGc>gAc		oxysterol binding protein							157.0	159.0	158.0					11																	59368338		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59368338C>T	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1133G>A	11.37:g.59368338C>T	ENSP00000263847:p.Gly378Asp						p.G378D	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	6	1612	-		all_epithelial(135;0.000236)	378					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1133G>A	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129298	0.56721	.	.	ENSG00000110048	ENST00000263847	T	0.29397	1.57	5.63	5.63	0.86233	.	0.575907	0.18913	N	0.127685	T	0.17365	0.0417	N	0.08118	0	0.80722	D	1	B	0.15141	0.012	B	0.18561	0.022	T	0.08848	-1.0702	10	0.02654	T	1	-19.6988	19.2882	0.94087	0.0:1.0:0.0:0.0	.	378	P22059	OSBP1_HUMAN	D	378	ENSP00000263847:G378D	ENSP00000263847:G378D	G	-	2	0	OSBP	59124914	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.214000	0.77958	2.663000	0.90544	0.655000	0.94253	GGC		0.458	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			6	125	0	0	0	1	0	6	125				
PGK1	5230	broad.mit.edu	37	X	77369393	77369393	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:77369393G>A	ENST00000373316.4	+	3	436	c.269G>A	c.(268-270)gGc>gAc	p.G90D	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.G62D	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	90					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TCTCTGCTGGGCAAGTAAGTG	0.507																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(268-270)gGc>gAc		phosphoglycerate kinase 1							81.0	76.0	77.0					X																	77369393		2203	4299	6502	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77369393G>A	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.269G>A	X.37:g.77369393G>A	ENSP00000362413:p.Gly90Asp					PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.G62D	p.G90D	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			3	436	+			90					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.269G>A	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	16.54	3.151087	0.57151	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.92446	-3.04;-3.04	5.19	5.19	0.71726	Phosphoglycerate kinase, N-terminal (1);	0.152275	0.64402	D	0.000013	D	0.90270	0.6957	M	0.75447	2.3	0.41614	D	0.988925	B	0.09022	0.002	B	0.14023	0.01	D	0.86237	0.1641	9	.	.	.	-24.2628	10.5982	0.45352	0.0899:0.0:0.91:0.0	.	90	P00558	PGK1_HUMAN	D	90;62	ENSP00000362413:G90D;ENSP00000444708:G62D	.	G	+	2	0	PGK1	77256049	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.613000	0.82986	2.293000	0.77203	0.597000	0.82753	GGC		0.507	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			4	95	0	0	0	1	0	4	95				
ZNF777	27153	broad.mit.edu	37	7	149129883	149129883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149129883C>T	ENST00000247930.4	-	6	1803	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGACATCTCCCCGGGCAGC	0.662																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1480-1482)Gag>Aag		zinc finger protein 777							18.0	20.0	19.0					7																	149129883		1980	4150	6130	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129883C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1480G>A	7.37:g.149129883C>T	ENSP00000247930:p.Glu494Lys						p.E494K	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	1803	-	Melanoma(164;0.165)		494					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1480G>A	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255017	0.39896	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05580	3.42	4.44	4.44	0.53790	.	0.254581	0.27509	N	0.019045	T	0.04048	0.0113	N	0.14661	0.345	0.33362	D	0.572433	P	0.35872	0.525	B	0.30105	0.111	T	0.32903	-0.9889	10	0.42905	T	0.14	-24.6806	12.4623	0.55738	0.0:1.0:0.0:0.0	.	494	Q9ULD5-2	.	K	494;237	ENSP00000247930:E494K	ENSP00000247930:E494K	E	-	1	0	ZNF777	148760816	0.000000	0.05858	0.954000	0.39281	0.837000	0.47467	0.764000	0.26532	2.303000	0.77524	0.467000	0.42956	GAG		0.662	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		13	34	0	0	0	1	0	13	34				
KIF3C	3797	broad.mit.edu	37	2	26174690	26174690	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:26174690C>T	ENST00000264712.3	-	5	2553	c.1974G>A	c.(1972-1974)caG>caA	p.Q658Q	KIF3C_ENST00000405914.1_Silent_p.Q658Q|KIF3C_ENST00000496378.1_5'UTR	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	658	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAACTTCCACTGCTCCTCCT	0.587																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1972-1974)caG>caA		kinesin family member 3C							84.0	74.0	77.0					2																	26174690		2203	4300	6503	SO:0001819	synonymous_variant	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26174690C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1974G>A	2.37:g.26174690C>T						KIF3C_ENST00000496378.1_5'UTR|KIF3C_ENST00000405914.1_Silent_p.Q658Q	p.Q658Q	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			5	2553	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		658			Globular (Potential).		O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	c.1974G>A	CCDS1719.1																																																																																				0.587	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			19	35	0	0	0	1	0	19	35				
BAG6	7917	broad.mit.edu	37	6	31612813	31612813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31612813C>T	ENST00000375964.6	-	10	1610	c.1297G>A	c.(1297-1299)Gct>Act	p.A433T	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Missense_Mutation_p.A427T|BAG6_ENST00000439687.2_Missense_Mutation_p.A427T|BAG6_ENST00000375976.4_Missense_Mutation_p.A427T|BAG6_ENST00000211379.5_Missense_Mutation_p.A427T|BAG6_ENST00000362049.6_Missense_Mutation_p.A427T	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	433	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGCGGGGGAGCTGGACCTGGC	0.627																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(1279-1281)Gct>Act		BCL2-associated athanogene 6							72.0	91.0	85.0					6																	31612813		1507	2707	4214	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31612813C>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1297G>A	6.37:g.31612813C>T	ENSP00000365131:p.Ala433Thr					BAG6_ENST00000362049.6_Missense_Mutation_p.A427T|BAG6_ENST00000211379.5_Missense_Mutation_p.A427T|BAG6_ENST00000439687.2_Missense_Mutation_p.A427T|BAG6_ENST00000375976.4_Missense_Mutation_p.A427T|BAG6_ENST00000375964.6_Missense_Mutation_p.A433T	p.A427T			P46379	BAG6_HUMAN			10	1568	-			433			4 X 29 AA approximate repeats.|Pro-rich.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.1279G>A	CCDS47403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.71|19.71	3.878958|3.878958	0.72294|0.72294	.|.	.|.	ENSG00000204463|ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000438149;ENST00000436214;ENST00000435080|ENST00000453833	T;T;T;T;T;T;T;T|.	0.54479|.	1.15;1.16;1.15;1.17;0.83;1.09;0.63;0.57|.	5.19|5.19	4.32|4.32	0.51571|0.51571	.|.	0.312016|.	0.27023|.	N|.	0.021305|.	T|T	0.21841|0.21841	0.0526|0.0526	L|L	0.27053|0.27053	0.805|0.805	0.31514|0.31514	N|N	0.663203|0.663203	B;B;B;P;B|.	0.49447|.	0.007;0.005;0.002;0.924;0.005|.	B;B;B;P;B|.	0.60682|.	0.002;0.005;0.004;0.878;0.005|.	T|T	0.11324|0.11324	-1.0592|-1.0592	10|5	0.29301|.	T|.	0.29|.	.|.	10.8255|10.8255	0.46629|0.46629	0.0:0.9106:0.0:0.0894|0.0:0.9106:0.0:0.0894	.|.	427;427;427;433;427|.	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2|.	.;.;.;BAG6_HUMAN;.|.	T|N	427;433;427;427;427;427;427;12;41;427|87	ENSP00000365143:A427T;ENSP00000365131:A433T;ENSP00000211379:A427T;ENSP00000384494:A427T;ENSP00000402856:A427T;ENSP00000354875:A427T;ENSP00000397978:A427T;ENSP00000410280:A12T|.	ENSP00000211379:A427T|.	A|S	-|-	1|2	0|0	BAG6|BAG6	31720792|31720792	0.950000|0.950000	0.32346|0.32346	0.940000|0.940000	0.37924|0.37924	0.662000|0.662000	0.39071|0.39071	1.968000|1.968000	0.40500|0.40500	1.179000|1.179000	0.42884|0.42884	0.645000|0.645000	0.84053|0.84053	GCT|AGC		0.627	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		42	86	0	0	0	1	0	42	86				
NFYA	4800	broad.mit.edu	37	6	41057337	41057337	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:41057337G>A	ENST00000341376.6	+	5	530	c.329G>A	c.(328-330)gGa>gAa	p.G110E	NFYA_ENST00000353205.5_Missense_Mutation_p.G81E|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	110	Gln-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCCCACCTGGACAGATCCAG	0.537																																						ENST00000341376.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9						c.(328-330)gGa>gAa		nuclear transcription factor Y, alpha							59.0	60.0	60.0					6																	41057337		2203	4300	6503	SO:0001583	missense	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41057337G>A		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.329G>A	6.37:g.41057337G>A	ENSP00000345702:p.Gly110Glu					NFYA_ENST00000353205.5_Missense_Mutation_p.G81E|OARD1_ENST00000480585.1_Intron	p.G110E	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN			5	530	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		110			Gln-rich.		Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	37	c.329G>A	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886093	0.72410	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.96	5.09	0.68999	.	0.092204	0.85682	D	0.000000	T	0.59662	0.2210	L	0.40543	1.245	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.80764	0.988;0.994	T	0.55685	-0.8102	9	0.37606	T	0.19	-12.3559	14.5808	0.68288	0.0706:0.0:0.9294:0.0	.	81;110	P23511-2;P23511	.;NFYA_HUMAN	E	110;81	.	ENSP00000345702:G110E	G	+	2	0	NFYA	41165315	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.789000	0.85783	2.831000	0.97527	0.650000	0.86243	GGA		0.537	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			12	19	0	0	0	1	0	12	19				
COL18A1	80781	broad.mit.edu	37	21	46888292	46888292	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46888292G>A	ENST00000359759.4	+	2	1509	c.1488G>A	c.(1486-1488)cgG>cgA	p.R496R	COL18A1_ENST00000400337.2_Silent_p.R81R|COL18A1_ENST00000355480.5_Silent_p.R261R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	496	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AAGTGGCCCGGTACCACTTCC	0.657																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1486-1488)cgG>cgA		collagen, type XVIII, alpha 1							78.0	91.0	87.0					21																	46888292		2069	4192	6261	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888292G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1488G>A	21.37:g.46888292G>A						COL18A1_ENST00000355480.5_Silent_p.R261R|COL18A1_ENST00000400337.2_Silent_p.R81R	p.R496R			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1509	+			496			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.1488G>A																																																																																					0.657	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			4	97	0	0	0	1	0	4	97				
CHAC2	494143	broad.mit.edu	37	2	53995127	53995127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:53995127G>A	ENST00000295304.4	+	1	199	c.104G>A	c.(103-105)gGc>gAc	p.G35D	GPR75-ASB3_ENST00000482829.1_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	35										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCTGGCAGGGCAGCACGGAC	0.622																																						ENST00000295304.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(103-105)gGc>gAc		ChaC, cation transport regulator homolog 2 (E. coli)							67.0	69.0	68.0					2																	53995127		2203	4300	6503	SO:0001583	missense	494143							g.chr2:53995127G>A	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.104G>A	2.37:g.53995127G>A	ENSP00000295304:p.Gly35Asp					GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000482829.1_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	p.G35D	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		1	199	+			35					Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	c.104G>A	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502651	0.85176	.	.	ENSG00000143942	ENST00000295304	T	0.42131	0.98	4.85	4.85	0.62838	Butirosin biosynthesis, BtrG-like (1);	0.000000	0.85682	D	0.000000	T	0.64227	0.2579	M	0.85041	2.73	0.80722	D	1	D	0.55605	0.972	P	0.56788	0.806	T	0.68116	-0.5494	10	0.42905	T	0.14	-6.3718	18.1584	0.89701	0.0:0.0:1.0:0.0	.	35	Q8WUX2	CHAC2_HUMAN	D	35	ENSP00000295304:G35D	ENSP00000295304:G35D	G	+	2	0	CHAC2	53848631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.328000	0.96403	2.523000	0.85059	0.591000	0.81541	GGC		0.622	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708		5	21	0	0	0	1	0	5	21				
CAMK1D	57118	broad.mit.edu	37	10	12595229	12595229	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:12595229C>T	ENST00000378847.3	+	2	435	c.98C>T	c.(97-99)gCc>gTc	p.A33V	CAMK1D_ENST00000487696.1_Intron|CAMK1D_ENST00000378845.1_Missense_Mutation_p.A33V	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	33	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CACAGCGGGGCCTTTTCCGAA	0.458																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(97-99)gCc>gTc		calcium/calmodulin-dependent protein kinase ID							162.0	152.0	155.0					10																	12595229		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12595229C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.98C>T	10.37:g.12595229C>T	ENSP00000368124:p.Ala33Val					CAMK1D_ENST00000487696.1_Intron|CAMK1D_ENST00000378845.1_Missense_Mutation_p.A33V	p.A33V	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	2	435	+			33			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.98C>T	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160627	0.94727	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.44482	0.92;0.92	5.14	5.14	0.70334	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	0.66771	0.2823	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.968	T	0.71626	-0.4536	10	0.87932	D	0	-17.3026	17.1858	0.86866	0.0:1.0:0.0:0.0	.	33;33	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	V	33	ENSP00000368124:A33V;ENSP00000368122:A33V	ENSP00000368122:A33V	A	+	2	0	CAMK1D	12635235	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.445000	0.80570	2.370000	0.80446	0.561000	0.74099	GCC		0.458	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		5	196	0	0	0	1	0	5	196				
BUD13	84811	broad.mit.edu	37	11	116633778	116633778	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:116633778G>A	ENST00000260210.4	-	4	550	c.527C>T	c.(526-528)cCt>cTt	p.P176L	BUD13_ENST00000375445.3_Missense_Mutation_p.P176L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	176	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCTCCTGGGAGGAGATGTGTC	0.592																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(526-528)cCt>cTt		BUD13 homolog (S. cerevisiae)							98.0	106.0	103.0					11																	116633778		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116633778G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.527C>T	11.37:g.116633778G>A	ENSP00000260210:p.Pro176Leu					BUD13_ENST00000375445.3_Missense_Mutation_p.P176L	p.P176L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	550	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	176			Arg-rich.		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.527C>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465758	0.26335	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.36340	1.74;1.26	5.08	3.16	0.36331	.	0.251138	0.47852	D	0.000206	T	0.56992	0.2023	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;0.984;1.0	D;P;D	0.91635	0.992;0.804;0.999	T	0.58148	-0.7687	10	0.87932	D	0	-5.0269	9.0437	0.36333	0.0765:0.0:0.7766:0.1468	.	176;176;176	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	L	176	ENSP00000364594:P176L;ENSP00000260210:P176L	ENSP00000260210:P176L	P	-	2	0	BUD13	116138988	0.997000	0.39634	0.656000	0.29637	0.015000	0.08874	4.467000	0.60155	0.683000	0.31428	-0.150000	0.13652	CCT		0.592	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		44	99	0	0	0	1	0	44	99				
SUFU	51684	broad.mit.edu	37	10	104353448	104353448	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104353448G>A	ENST00000369902.3	+	5	819	c.653G>A	c.(652-654)gGc>gAc	p.G218D	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.G218D|SUFU_ENST00000423559.2_Missense_Mutation_p.G218D|RNU6-43P_ENST00000384302.1_RNA	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	218					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AACGGGCAGGGCATCCTGGAG	0.617			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(652-654)gGc>gAc		suppressor of fused homolog (Drosophila)							90.0	77.0	81.0					10																	104353448		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353448G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.653G>A	10.37:g.104353448G>A	ENSP00000358918:p.Gly218Asp					SUFU_ENST00000423559.2_Missense_Mutation_p.G218D|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.G218D	p.G218D	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	5	819	+		Colorectal(252;0.207)	218					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.653G>A	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472738	0.96274	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.88431	-2.38;-2.38;-2.38	6.07	6.07	0.98685	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.984;0.963;0.994	D	0.94170	0.7422	10	0.62326	D	0.03	-26.7979	20.6439	0.99570	0.0:0.0:1.0:0.0	.	218;218;218	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	D	218	ENSP00000358918:G218D;ENSP00000358915:G218D;ENSP00000411597:G218D	ENSP00000358915:G218D	G	+	2	0	SUFU	104343438	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.890000	0.99128	0.650000	0.86243	GGC		0.617	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		4	52	0	0	0	1	0	4	52				
PFAS	5198	broad.mit.edu	37	17	8172487	8172487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:8172487G>A	ENST00000314666.6	+	28	4055	c.3922G>A	c.(3922-3924)Gca>Aca	p.A1308T	PFAS_ENST00000545834.1_Missense_Mutation_p.A884T	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1308					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TTGGCAGTGGGCATGGCGACC	0.637																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(3922-3924)Gca>Aca		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						47.0	48.0	47.0					17																	8172487		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8172487G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3922G>A	17.37:g.8172487G>A	ENSP00000313490:p.Ala1308Thr					PFAS_ENST00000545834.1_Missense_Mutation_p.A884T	p.A1308T	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			28	4055	+			1308					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.3922G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385261	0.82792	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.30448	1.53;2.26	5.46	4.48	0.54585	Glutamine amidotransferase type 1 (1);	0.130712	0.50627	D	0.000117	T	0.46658	0.1404	L	0.54908	1.71	0.46901	D	0.999244	D	0.55800	0.973	P	0.61275	0.886	T	0.46693	-0.9173	10	0.87932	D	0	-6.0835	12.613	0.56561	0.0:0.3201:0.6799:0.0	.	1308	O15067	PUR4_HUMAN	T	884;1308;717	ENSP00000441706:A884T;ENSP00000313490:A1308T	ENSP00000313490:A1308T	A	+	1	0	PFAS	8113212	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.742000	0.47434	1.266000	0.44231	0.655000	0.94253	GCA		0.637	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			4	58	0	0	0	1	0	4	58				
RPGR	6103	broad.mit.edu	37	X	38182772	38182772	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:38182772C>T	ENST00000339363.3	-	2	201	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	RPGR_ENST00000342811.3_Missense_Mutation_p.G12S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.G12S|RPGR_ENST00000378505.2_Missense_Mutation_p.G12S|RPGR_ENST00000309513.3_Missense_Mutation_p.G12S|RPGR_ENST00000338898.3_Missense_Mutation_p.G12S			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	12					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AACACAGCACCCGAATCTGCA	0.323																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(34-36)Ggt>Agt		retinitis pigmentosa GTPase regulator							45.0	43.0	43.0					X																	38182772		2201	4299	6500	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38182772C>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.34G>A	X.37:g.38182772C>T	ENSP00000343671:p.Gly12Ser					RPGR_ENST00000339363.3_Missense_Mutation_p.G12S|RPGR_ENST00000338898.3_Missense_Mutation_p.G12S|RPGR_ENST00000309513.3_Missense_Mutation_p.G12S|RPGR_ENST00000318842.7_Missense_Mutation_p.G12S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.G12S	p.G12S	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			2	210	-			12					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.34G>A		.	.	.	.	.	.	.	.	.	.	C	20.1	3.937713	0.73557	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.6	5.6	0.85130	.	0.000000	0.85682	U	0.000000	D	0.92721	0.7686	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93820	0.7118	10	0.72032	D	0.01	.	18.2261	0.89917	0.0:1.0:0.0:0.0	.	12;12	E9PE28;Q92834-2	.;.	S	12	ENSP00000343671:G12S;ENSP00000308783:G12S;ENSP00000340208:G12S;ENSP00000322219:G12S;ENSP00000339531:G12S;ENSP00000367766:G12S	ENSP00000308783:G12S	G	-	1	0	RPGR	38067716	1.000000	0.71417	0.964000	0.40570	0.187000	0.23431	7.320000	0.79064	2.342000	0.79632	0.513000	0.50165	GGT		0.323	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		15	66	0	0	0	1	0	15	66				
APP	351	broad.mit.edu	37	21	27425606	27425606	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:27425606C>T	ENST00000346798.3	-	4	447	c.414G>A	c.(412-414)caG>caA	p.Q138Q	APP_ENST00000439274.2_Silent_p.Q82Q|APP_ENST00000448388.2_Silent_p.Q103Q|APP_ENST00000357903.3_Silent_p.Q138Q|APP_ENST00000358918.3_Silent_p.Q138Q|APP_ENST00000354192.3_Silent_p.Q82Q|APP_ENST00000348990.5_Silent_p.Q138Q|APP_ENST00000359726.3_Silent_p.Q138Q|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_Silent_p.Q133Q	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	138					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCATCCTCTCCTGGTGTAAGA	0.443																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(412-414)caG>caA		amyloid beta (A4) precursor protein							188.0	173.0	178.0					21																	27425606		2203	4300	6503	SO:0001819	synonymous_variant	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27425606C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.414G>A	21.37:g.27425606C>T						APP_ENST00000359726.3_Silent_p.Q138Q|APP_ENST00000440126.3_Silent_p.Q133Q|APP_ENST00000474136.1_5'UTR|APP_ENST00000346798.3_Silent_p.Q138Q|APP_ENST00000348990.5_Silent_p.Q138Q|APP_ENST00000448388.2_Silent_p.Q103Q|APP_ENST00000357903.3_Silent_p.Q138Q|APP_ENST00000354192.3_Silent_p.Q82Q|APP_ENST00000439274.2_Silent_p.Q82Q	p.Q138Q	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			4	613	-		Breast(209;0.00295)	138					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	ENST00000346798.3	37	c.414G>A	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359385	0.24598	.	.	ENSG00000142192	ENST00000448850	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.70666	0.3250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67696	-0.5604	4	.	.	.	-26.393	14.2008	0.65703	0.0:0.9276:0.0:0.0723	.	.	.	.	R	60	.	.	G	-	1	0	APP	26347477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.255000	0.51484	2.894000	0.99253	0.655000	0.94253	GGA		0.443	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		10	145	0	0	0	1	0	10	145				
GSG2	83903	broad.mit.edu	37	17	3628121	3628121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3628121G>A	ENST00000325418.4	+	1	911	c.892G>A	c.(892-894)Gac>Aac	p.D298N	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	298					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CACAGGCCAGGACTCTTGTCA	0.567																																						ENST00000325418.4																			0											c.(892-894)Gac>Aac		germ cell associated 2 (haspin)							41.0	45.0	43.0					17																	3628121		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628121G>A	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.892G>A	17.37:g.3628121G>A	ENSP00000325290:p.Asp298Asn					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.D298N	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	911	+			298					Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.892G>A	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152044	0.38021	.	.	ENSG00000177602	ENST00000325418	T	0.06371	3.31	4.44	3.4	0.38934	.	.	.	.	.	T	0.05135	0.0137	N	0.24115	0.695	0.09310	N	1	B	0.19583	0.037	B	0.11329	0.006	T	0.32613	-0.9900	9	0.87932	D	0	.	7.7418	0.28845	0.0993:0.3215:0.5791:0.0	.	298	Q8TF76	HASP_HUMAN	N	298	ENSP00000325290:D298N	ENSP00000325290:D298N	D	+	1	0	GSG2	3574870	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.927000	0.28818	1.146000	0.42352	0.655000	0.94253	GAC		0.567	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		4	42	0	0	0	1	0	4	42				
ROR2	4920	broad.mit.edu	37	9	94487315	94487315	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:94487315G>A	ENST00000375708.3	-	9	1659	c.1461C>T	c.(1459-1461)gtC>gtT	p.V487V	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.V347V	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACCTTTGTAGACTTTCCCAA	0.597																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1459-1461)gtC>gtT		receptor tyrosine kinase-like orphan receptor 2							185.0	213.0	204.0					9																	94487315		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94487315G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1461C>T	9.37:g.94487315G>A						ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.V347V	p.V487V	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	1659	-			487			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.1461C>T	CCDS6691.1																																																																																				0.597	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			22	317	0	0	0	1	0	22	317				
AXIN1	8312	broad.mit.edu	37	16	360012	360012	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:360012G>T	ENST00000262320.3	-	4	1448	c.1077C>A	c.(1075-1077)agC>agA	p.S359R	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.S359R	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	359	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGACCTGCACGCTCTCCTGCA	0.622																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1075-1077)agC>agA		axin 1							104.0	64.0	78.0					16																	360012		2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:360012G>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1077C>A	16.37:g.360012G>T	ENSP00000262320:p.Ser359Arg					AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.S359R	p.S359R	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			4	1448	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	359			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1077C>A	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895242	0.33442	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.83992	-1.79;-1.79	4.84	-2.59	0.06209	.	0.090091	0.85682	D	0.000000	D	0.87382	0.6163	M	0.82323	2.585	0.44880	D	0.997891	P;P	0.50819	0.939;0.764	P;P	0.57425	0.82;0.45	D	0.86873	0.2037	10	0.87932	D	0	-1.0865	11.4679	0.50249	0.7248:0.0:0.2752:0.0	.	359;359	O15169-2;O15169	.;AXIN1_HUMAN	R	359	ENSP00000262320:S359R;ENSP00000346935:S359R	ENSP00000262320:S359R	S	-	3	2	AXIN1	300013	1.000000	0.71417	0.955000	0.39395	0.969000	0.65631	1.329000	0.33770	-0.339000	0.08401	0.456000	0.33151	AGC		0.622	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			4	24	1	0	0.0215528	1	0.0215593	4	24				
NPAP1	23742	broad.mit.edu	37	15	24924283	24924283	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:24924283G>A	ENST00000329468.2	+	1	3743	c.3269G>A	c.(3268-3270)gGt>gAt	p.G1090D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1090					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TACATTCCTGGTTTAGACCCA	0.537																																						ENST00000329468.2																			0											c.(3268-3270)gGt>gAt		nuclear pore associated protein 1							129.0	118.0	122.0					15																	24924283		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924283G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3269G>A	15.37:g.24924283G>A	ENSP00000333735:p.Gly1090Asp						p.G1090D	NM_018958.2	NP_061831.2					1	3743	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3269G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.70	1.715429	0.30413	.	.	ENSG00000185823	ENST00000329468	T	0.06933	3.24	1.78	-0.754	0.11065	.	.	.	.	.	T	0.04407	0.0121	N	0.22421	0.69	0.09310	N	1	P	0.44659	0.84	B	0.37692	0.256	T	0.32402	-0.9908	9	0.54805	T	0.06	.	1.8896	0.03245	0.253:0.0:0.4443:0.3027	.	1090	Q9NZP6	CO002_HUMAN	D	1090	ENSP00000333735:G1090D	ENSP00000333735:G1090D	G	+	2	0	C15orf2	22475376	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.037000	0.13840	-0.192000	0.10432	0.313000	0.20887	GGT		0.537	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		9	154	0	0	0	1	0	9	154				
LXN	56925	broad.mit.edu	37	3	158383135	158383135	+	IGR	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:158383135G>A	ENST00000264265.3	-	0	1116				GFM1_ENST00000478576.1_Missense_Mutation_p.E464K|GFM1_ENST00000264263.5_Missense_Mutation_p.E483K|GFM1_ENST00000486715.1_Missense_Mutation_p.E464K|GFM1_ENST00000490261.1_3'UTR	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin						detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAACGATCTGGAAAAATTTTC	0.313																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(1390-1392)Gaa>Aaa		G elongation factor, mitochondrial 1							38.0	41.0	40.0					3																	158383135		2203	4299	6502	SO:0001628	intergenic_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158383135G>A	AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807		3.37:g.158383135G>A						GFM1_ENST00000478576.1_Missense_Mutation_p.E464K|GFM1_ENST00000490261.1_3'UTR|GFM1_ENST00000264263.5_Missense_Mutation_p.E483K	p.E464K	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		12	1747	+			464					Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	c.1390G>A	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274815	0.80580	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.72615	-0.67;-0.67;-0.67	6.17	6.17	0.99709	Elongation factor G/III/V (1);	0.102948	0.64402	D	0.000004	T	0.69913	0.3164	L	0.41079	1.255	0.58432	D	0.999996	P;B;B	0.34462	0.454;0.087;0.087	B;B;B	0.38378	0.272;0.14;0.097	T	0.69639	-0.5091	10	0.87932	D	0	-0.5712	20.8794	0.99867	0.0:0.0:1.0:0.0	.	483;464;464	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	K	464;464;483	ENSP00000419038:E464K;ENSP00000418755:E464K;ENSP00000264263:E483K	ENSP00000264263:E483K	E	+	1	0	GFM1	159865829	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.163000	0.94750	2.941000	0.99782	0.655000	0.94253	GAA		0.313	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1	NM_020169		13	9	0	0	0	1	0	13	9				
ZNF783	100289678	broad.mit.edu	37	7	148978789	148978789	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:148978789G>A	ENST00000434415.1	+	6	1159	c.996G>A	c.(994-996)ggG>ggA	p.G332G	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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)			GGCCACCGGGGGCCAGTGGGG	0.721																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(994-996)ggG>ggA		zinc finger family member 783							7.0	9.0	8.0					7																	148978789		1761	3896	5657	SO:0001819	synonymous_variant	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148978789G>A	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.996G>A	7.37:g.148978789G>A						ZNF783_ENST00000489518.1_Intron	p.G332G	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		6	1159	+	Melanoma(164;0.15)		332					C9J9J2	Silent	SNP	ENST00000434415.1	37	c.996G>A	CCDS56519.1																																																																																				0.721	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		7	16	0	0	0	1	0	7	16				
TXNDC2	84203	broad.mit.edu	37	18	9887757	9887757	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:9887757C>T	ENST00000306084.6	+	2	1480	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	TXNDC2_ENST00000357775.5_Silent_p.T360T|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	427	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGAAGCCACCCCATCCAAGG	0.542																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1279-1281)acC>acT		thioredoxin domain containing 2 (spermatozoa)							79.0	74.0	76.0					18																	9887757		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887757C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1281C>T	18.37:g.9887757C>T						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.T360T|TXNDC2_ENST00000577697.1_3'UTR	p.T427T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1480	+			427			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1281C>T	CCDS42414.1																																																																																				0.542	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			13	76	0	0	0	1	0	13	76				
RP1L1	94137	broad.mit.edu	37	8	10466221	10466221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:10466221C>T	ENST00000382483.3	-	4	5610	c.5387G>A	c.(5386-5388)gGc>gAc	p.G1796D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1876					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)				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)		TTCACTTATGCCCTCTCCCTC	0.572																																						ENST00000382483.3																			0				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						c.(5386-5388)gGc>gAc		retinitis pigmentosa 1-like 1							183.0	201.0	195.0					8																	10466221		2094	4209	6303	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466221C>T	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.5387G>A	8.37:g.10466221C>T	ENSP00000371923:p.Gly1796Asp						p.G1796D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5610	-			1796					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5387G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.140	0.394029	0.11638	.	.	ENSG00000183638	ENST00000382483	T	0.04809	3.55	3.53	1.59	0.23543	.	1.480750	0.05142	U	0.494445	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	P	0.47409	0.895	B	0.38755	0.281	T	0.41556	-0.9502	10	0.33141	T	0.24	-5.8872	6.0845	0.19960	0.0:0.5718:0.0:0.4282	.	1796	A6NKC6	.	D	1796	ENSP00000371923:G1796D	ENSP00000371923:G1796D	G	-	2	0	RP1L1	10503631	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-1.610000	0.02064	0.675000	0.31264	0.305000	0.20034	GGC		0.572	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			86	137	0	0	0	1	0	86	137				
VCAN	1462	broad.mit.edu	37	5	82834616	82834616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:82834616G>A	ENST00000265077.3	+	8	6359	c.5794G>A	c.(5794-5796)Gaa>Aaa	p.E1932K	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E945K|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1932	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCCTTTGGAGGAAGATTTCAG	0.418																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(5794-5796)Gaa>Aaa		versican							85.0	88.0	87.0					5																	82834616		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834616G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5794G>A	5.37:g.82834616G>A	ENSP00000265077:p.Glu1932Lys					VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E945K|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	p.E1932K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6359	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1932			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5794G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939851	0.73557	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.87729	-2.26;-2.29;2.73	5.7	4.8	0.61643	.	0.092608	0.47093	D	0.000246	D	0.92348	0.7572	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.80764	0.895;0.994	D	0.92887	0.6328	10	0.72032	D	0.01	.	13.6118	0.62083	0.0:0.156:0.844:0.0	.	945;1932	P13611-2;P13611	.;CSPG2_HUMAN	K	1932;945;945	ENSP00000265077:E1932K;ENSP00000340062:E945K;ENSP00000426251:E945K	ENSP00000265077:E1932K	E	+	1	0	VCAN	82870372	1.000000	0.71417	0.990000	0.47175	0.484000	0.33280	1.839000	0.39220	1.356000	0.45884	0.591000	0.81541	GAA		0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		23	74	0	0	0	1	0	23	74				
TTLL12	23170	broad.mit.edu	37	22	43576853	43576853	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:43576853G>A	ENST00000216129.6	-	3	504	c.441C>T	c.(439-441)aaC>aaT	p.N147N		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	147					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGCCCATCAGGTTGGCCATGC	0.652																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(439-441)aaC>aaT		tubulin tyrosine ligase-like family, member 12							76.0	63.0	67.0					22																	43576853		2203	4300	6503	SO:0001819	synonymous_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43576853G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.441C>T	22.37:g.43576853G>A							p.N147N	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			3	504	-		Ovarian(80;0.221)|Glioma(61;0.222)	147					Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	c.441C>T	CCDS14047.1																																																																																				0.652	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		6	77	0	0	0	1	0	6	77				
POMT2	29954	broad.mit.edu	37	14	77743824	77743824	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:77743824G>A	ENST00000261534.4	-	21	2350	c.2148C>T	c.(2146-2148)agC>agT	p.S716S		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	716						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AGAGGTAGAAGCTGTGAGAGA	0.582																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.e21-1		protein-O-mannosyltransferase 2							92.0	91.0	92.0					14																	77743824		2203	4300	6503	SO:0001630	splice_region_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77743824G>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.2148-1C>T	14.37:g.77743824G>A							p.S716_splice	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	21	2350	-			716					Q9NSG6|Q9P1W0|Q9P1W2	Splice_Site	SNP	ENST00000261534.4	37	c.2147_splice	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498327	0.44455	.	.	ENSG00000009830	ENST00000556394	.	.	.	5.88	4.99	0.66335	.	.	.	.	.	T	0.70815	0.3267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70256	-0.4922	4	.	.	.	.	15.0263	0.71671	0.0682:0.0:0.9318:0.0	.	.	.	.	V	68	.	.	A	-	2	0	POMT2	76813577	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.857000	0.62939	1.501000	0.48654	0.563000	0.77884	GCT		0.582	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382	Silent	11	18	0	0	0	1	0	11	18				
AGO1	26523	broad.mit.edu	37	1	36359334	36359334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36359334G>A	ENST00000373204.4	+	5	785	c.572G>A	c.(571-573)gGg>gAg	p.G191E	AGO1_ENST00000373206.1_Missense_Mutation_p.G116E	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	191					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CACCCGCTGGGGGGTGGGCGC	0.632																																						ENST00000373204.4																			0											c.(571-573)gGg>gAg		argonaute RISC catalytic component 1							47.0	45.0	46.0					1																	36359334		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36359334G>A	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.572G>A	1.37:g.36359334G>A	ENSP00000362300:p.Gly191Glu					AGO1_ENST00000373206.1_Missense_Mutation_p.G116E	p.G191E	NM_012199.2	NP_036331.1					5	785	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.572G>A	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401451	0.83120	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.12147	2.76;2.71	5.93	5.93	0.95920	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.83384	2.64	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.34725	-0.9817	10	0.66056	D	0.02	-23.2269	20.3334	0.98727	0.0:0.0:1.0:0.0	.	191	Q9UL18	AGO1_HUMAN	E	116;191	ENSP00000362302:G116E;ENSP00000362300:G191E	ENSP00000362300:G191E	G	+	2	0	EIF2C1	36131921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.818000	0.97014	0.591000	0.81541	GGG		0.632	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			3	37	0	0	0	1	0	3	37				
DHX57	90957	broad.mit.edu	37	2	39065083	39065083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:39065083C>T	ENST00000295373.6	-	13	2558	c.2432G>A	c.(2431-2433)aGc>aAc	p.S811N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	811							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GACTGACTTGCTAACCCCTGA	0.328																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2431-2433)aGc>aAc		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							119.0	111.0	113.0					2																	39065083		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39065083C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2432G>A	2.37:g.39065083C>T	ENSP00000295373:p.Ser811Asn						p.S811N	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			13	2558	-		all_hematologic(82;0.248)	811					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2432G>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278586	0.40294	.	.	ENSG00000163214	ENST00000295373	T	0.14266	2.52	5.08	4.2	0.49525	.	0.096556	0.45606	D	0.000347	T	0.13072	0.0317	L	0.43757	1.38	0.42288	D	0.99212	B;B;B	0.17852	0.024;0.021;0.006	B;B;B	0.22386	0.039;0.013;0.009	T	0.04454	-1.0950	10	0.52906	T	0.07	.	9.7084	0.40229	0.0:0.8334:0.0:0.1666	.	811;811;203	Q6P158;B4DKW2;Q59G60	DHX57_HUMAN;.;.	N	811	ENSP00000295373:S811N	ENSP00000295373:S811N	S	-	2	0	DHX57	38918587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.064000	0.30579	1.262000	0.44165	0.561000	0.74099	AGC		0.328	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		27	52	0	0	0	1	0	27	52				
QRICH1	54870	broad.mit.edu	37	3	49070055	49070055	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49070055C>T	ENST00000395443.2	-	8	2519	c.2047G>A	c.(2047-2049)Gtt>Att	p.V683I	RP13-131K19.6_ENST00000607245.1_RNA|QRICH1_ENST00000357496.2_Splice_Site_p.V683I|QRICH1_ENST00000424300.1_Splice_Site_p.V683I|QRICH1_ENST00000479449.1_5'Flank	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	683						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTTTCCCTACCTTTCTGGCCA	0.512																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.e8+1		glutamine-rich 1							118.0	97.0	104.0					3																	49070055		2203	4300	6503	SO:0001630	splice_region_variant	54870							g.chr3:49070055C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2047+1G>A	3.37:g.49070055C>T						QRICH1_ENST00000357496.2_Splice_Site_p.V683_splice|QRICH1_ENST00000424300.1_Splice_Site_p.V683_splice	p.V683_splice	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	8	2519	-			683					Q4G0F7|Q7L621|Q8TEA5	Splice_Site	SNP	ENST00000395443.2	37	c.2047_splice	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704386	0.48412	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.26	5.26	0.73747	.	0.054568	0.64402	D	0.000001	T	0.58736	0.2143	L	0.47716	1.5	0.50813	D	0.99989	B	0.18013	0.025	B	0.18561	0.022	T	0.54084	-0.8346	9	0.37606	T	0.19	-4.1493	18.9391	0.92598	0.0:1.0:0.0:0.0	.	683	Q2TAL8	QRIC1_HUMAN	I	683	.	ENSP00000350094:V683I	V	-	1	0	QRICH1	49045059	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.967000	0.76079	2.490000	0.84030	0.650000	0.86243	GTT		0.512	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	Missense_Mutation	7	78	0	0	0	1	0	7	78				
RBM11	54033	broad.mit.edu	37	21	15599467	15599467	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:15599467C>T	ENST00000400577.3	+	5	708	c.699C>T	c.(697-699)caC>caT	p.H233H	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	233					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AATGGACTCACCAACAACCAA	0.433																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(697-699)caC>caT		RNA binding motif protein 11							210.0	202.0	204.0					21																	15599467		1937	4137	6074	SO:0001819	synonymous_variant	54033						nucleotide binding|RNA binding	g.chr21:15599467C>T	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.699C>T	21.37:g.15599467C>T						RBM11_ENST00000468643.1_3'UTR	p.H233H	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	708	+			233					Q6YNC2|Q8NBA1|Q8NFF6	Silent	SNP	ENST00000400577.3	37	c.699C>T	CCDS46635.1																																																																																				0.433	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		51	136	0	0	0	1	0	51	136				
RPGRIP1L	23322	broad.mit.edu	37	16	53691499	53691499	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:53691499C>T	ENST00000379925.3	-	13	1497	c.1447G>A	c.(1447-1449)Gta>Ata	p.V483I	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.V483I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.V483I|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.V483I	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	483					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCACTATCTACTTTCACTAAA	0.328																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(1447-1449)Gta>Ata		RPGRIP1-like							52.0	52.0	52.0					16																	53691499		2197	4298	6495	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53691499C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1447G>A	16.37:g.53691499C>T	ENSP00000369257:p.Val483Ile					RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.V483I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.V483I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.V483I	p.V483I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			13	1540	-		all_cancers(37;0.0973)	483					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.1447G>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325300	0.24080	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.76709	-0.84;-1.04	6.16	3.18	0.36537	.	0.405610	0.26099	N	0.026360	T	0.66848	0.2831	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.23937	0.006;0.003;0.094;0.008	B;B;B;B	0.18561	0.016;0.016;0.022;0.014	T	0.59295	-0.7481	10	0.42905	T	0.14	-6.3858	6.2146	0.20648	0.1317:0.6678:0.0:0.2005	.	483;483;483;483	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	I	483	ENSP00000369257:V483I;ENSP00000262135:V483I	ENSP00000262135:V483I	V	-	1	0	RPGRIP1L	52249000	0.904000	0.30761	1.000000	0.80357	0.542000	0.35054	0.431000	0.21444	0.483000	0.27608	-0.145000	0.13849	GTA		0.328	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		18	50	0	0	0	1	0	18	50				
HIVEP1	3096	broad.mit.edu	37	6	12163651	12163651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:12163651G>A	ENST00000379388.2	+	9	7446	c.7114G>A	c.(7114-7116)Ggc>Agc	p.G2372S	HIVEP1_ENST00000541134.1_Missense_Mutation_p.G237S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2372					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCGACTCCAGGCTTGCCTTC	0.537																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(7114-7116)Ggc>Agc		human immunodeficiency virus type I enhancer binding protein 1							95.0	104.0	101.0					6																	12163651		2085	4226	6311	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12163651G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7114G>A	6.37:g.12163651G>A	ENSP00000368698:p.Gly2372Ser					HIVEP1_ENST00000541134.1_Missense_Mutation_p.G237S	p.G2372S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			9	7446	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2372					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.7114G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436275	0.25813	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.32272	2.97;1.46	5.76	4.0	0.46444	.	0.000000	0.34828	N	0.003641	T	0.07143	0.0181	L	0.42245	1.32	0.09310	N	1	B	0.18863	0.031	B	0.13407	0.009	T	0.36768	-0.9734	10	0.10377	T	0.69	-9.8955	5.7897	0.18353	0.2097:0.0:0.6543:0.136	.	2372	P15822	ZEP1_HUMAN	S	2372;237;354	ENSP00000368698:G2372S;ENSP00000445617:G237S	ENSP00000368698:G2372S	G	+	1	0	HIVEP1	12271637	0.908000	0.30866	0.039000	0.18376	0.008000	0.06430	2.932000	0.48940	0.784000	0.33661	-0.136000	0.14681	GGC		0.537	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		6	97	0	0	0	1	0	6	97				
TBC1D7	51256	broad.mit.edu	37	6	13321316	13321316	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:13321316G>A	ENST00000379300.3	-	4	448	c.205C>T	c.(205-207)Cca>Tca	p.P69S	TBC1D7_ENST00000607658.1_Missense_Mutation_p.P42S|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.P42S|TBC1D7_ENST00000343141.4_Missense_Mutation_p.P69S|TBC1D7_ENST00000356436.4_Missense_Mutation_p.P69S	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	69	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TCGTGGTGTGGAGGCAAGATT	0.468																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(124-126)Cca>Tca		TBC1 domain family, member 7							193.0	179.0	184.0					6																	13321316		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13321316G>A	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.205C>T	6.37:g.13321316G>A	ENSP00000368602:p.Pro69Ser					TBC1D7_ENST00000356436.4_Missense_Mutation_p.P69S|TBC1D7_ENST00000343141.4_Missense_Mutation_p.P69S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.P42S|TBC1D7_ENST00000379300.3_Missense_Mutation_p.P69S|TBC1D7_ENST00000607532.1_5'UTR	p.P42S			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		3	274	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	69					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.124C>T	CCDS4523.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.55|13.55	2.269809|2.269809	0.40095|0.40095	.|.	.|.	ENSG00000145979|ENSG00000145979	ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291|ENST00000334971	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.29655|.	2.42;2.42;2.42;1.56;3.7;1.57;1.57;2.42;1.57;1.57;2.42;2.42;3.7|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Rab-GAP/TBC domain (1);|.	0.046692|.	0.85682|.	D|.	0.000000|.	T|T	0.56140|0.56140	0.1965|0.1965	L|L	0.35854|0.35854	1.095|1.095	0.58432|0.58432	D|D	0.999999|0.999999	B;B;D;B;B|.	0.53619|.	0.063;0.107;0.961;0.135;0.158|.	B;B;P;B;B|.	0.49637|.	0.037;0.067;0.617;0.14;0.102|.	T|T	0.56986|0.56986	-0.7888|-0.7888	10|6	0.20046|0.56958	T|D	0.44|0.05	-7.0529|-7.0529	19.2251|19.2251	0.93815|0.93815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	69;42;42;42;69|.	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9|.	.;.;.;.;TBCD7_HUMAN|.	S|F	69;69;69;42;69;42;42;69;42;42;69;69;69|10	ENSP00000401438:P69S;ENSP00000348813:P69S;ENSP00000368602:P69S;ENSP00000368609:P42S;ENSP00000343100:P69S;ENSP00000414292:P42S;ENSP00000404680:P42S;ENSP00000394425:P69S;ENSP00000417005:P42S;ENSP00000412102:P42S;ENSP00000414101:P69S;ENSP00000401339:P69S;ENSP00000368593:P69S|.	ENSP00000343100:P69S|ENSP00000334212:S10F	P|S	-|-	1|2	0|0	TBC1D7|TBC1D7	13429295|13429295	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.475000|0.475000	0.33008|0.33008	9.363000|9.363000	0.97131|0.97131	2.788000|2.788000	0.95919|0.95919	0.555000|0.555000	0.69702|0.69702	CCA|TCC		0.468	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		8	128	0	0	0	1	0	8	128				
TMEM135	65084	broad.mit.edu	37	11	87025576	87025576	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:87025576C>T	ENST00000305494.5	+	12	1103	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	TMEM135_ENST00000532959.1_Missense_Mutation_p.S226F|TMEM135_ENST00000340353.7_Missense_Mutation_p.S333F|TMEM135_ENST00000535167.1_Missense_Mutation_p.S216F	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	355					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TATTTAGCGTCCAAATTGGTA	0.328																																						ENST00000340353.7																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(997-999)tCc>tTc		transmembrane protein 135							102.0	102.0	102.0					11																	87025576		2201	4299	6500	SO:0001583	missense	65084					integral to membrane		g.chr11:87025576C>T	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.1064C>T	11.37:g.87025576C>T	ENSP00000306344:p.Ser355Phe					TMEM135_ENST00000535167.1_Missense_Mutation_p.S216F|TMEM135_ENST00000532959.1_Missense_Mutation_p.S226F|TMEM135_ENST00000305494.5_Missense_Mutation_p.S355F	p.S333F	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN			11	1200	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	355					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.998C>T	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088545	0.55968	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.45668	0.93;0.89;0.93;0.89	5.13	5.13	0.70059	.	0.048810	0.85682	D	0.000000	T	0.34832	0.0911	L	0.39898	1.24	0.58432	D	0.999998	B;B	0.34290	0.138;0.447	B;B	0.29862	0.029;0.108	T	0.10753	-1.0616	9	.	.	.	-29.7568	17.5596	0.87902	0.0:1.0:0.0:0.0	.	333;355	Q86UB9-2;Q86UB9	.;TM135_HUMAN	F	333;192;226;355;216	ENSP00000345513:S333F;ENSP00000436179:S226F;ENSP00000306344:S355F;ENSP00000439525:S216F	.	S	+	2	0	TMEM135	86703224	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.115000	0.77110	2.398000	0.81561	0.467000	0.42956	TCC		0.328	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		3	39	0	0	0	1	0	3	39				
CELSR3	1951	broad.mit.edu	37	3	48689935	48689935	+	Missense_Mutation	SNP	G	G	A	rs149830456		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48689935G>A	ENST00000164024.4	-	11	5966	c.5686C>T	c.(5686-5688)Cac>Tac	p.H1896Y	CELSR3_ENST00000544264.1_Missense_Mutation_p.H1896Y	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1896	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCCCACGTGGAGCTGCTTT	0.637																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(5686-5688)Cac>Tac		cadherin, EGF LAG seven-pass G-type receptor 3		G	TYR/HIS	0,4406		0,0,2203	51.0	50.0	51.0		5686	4.4	1.0	3	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR3	NM_001407.2	83	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1896/3313	48689935	1,13005	2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48689935G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5686C>T	3.37:g.48689935G>A	ENSP00000164024:p.His1896Tyr					CELSR3_ENST00000164024.4_Missense_Mutation_p.H1896Y	p.H1896Y			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	11	5966	-			1896			Laminin G-like 2.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5686C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	4.463	0.085869	0.08583	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.74002	-0.8;-0.8	5.23	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.53514	0.1801	N	0.17082	0.46	0.40090	D	0.976245	B;B	0.12630	0.006;0.002	B;B	0.21708	0.036;0.007	T	0.46816	-0.9164	9	0.02654	T	1	.	10.2017	0.43087	0.1524:0.0:0.8476:0.0	.	1896;1966	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	Y	1896	ENSP00000164024:H1896Y;ENSP00000445694:H1896Y	ENSP00000164024:H1896Y	H	-	1	0	CELSR3	48664939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.308000	0.59129	1.217000	0.43442	-0.150000	0.13652	CAC		0.637	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	66	0	0	0	1	0	4	66				
MCHR1	2847	broad.mit.edu	37	22	41077375	41077375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:41077375G>A	ENST00000249016.4	+	2	1408	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	238					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCTCCTGTGGGCCCTCTCCTT	0.627																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(712-714)Gcc>Acc		melanin-concentrating hormone receptor 1							117.0	99.0	105.0					22																	41077375		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077375G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.712G>A	22.37:g.41077375G>A	ENSP00000249016:p.Ala238Thr					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron	p.A238T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1408	+			238					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.712G>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049235	0.75846	.	.	ENSG00000128285	ENST00000249016	T	0.37752	1.18	5.15	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.503841	0.23575	N	0.046720	T	0.37461	0.1004	L	0.33624	1.015	0.80722	D	1	D	0.57257	0.979	P	0.52343	0.696	T	0.06625	-1.0816	10	0.32370	T	0.25	.	12.6208	0.56601	0.0815:0.0:0.9185:0.0	.	238	Q99705	MCHR1_HUMAN	T	238	ENSP00000249016:A238T	ENSP00000249016:A238T	A	+	1	0	MCHR1	39407321	0.935000	0.31712	1.000000	0.80357	0.999000	0.98932	1.211000	0.32382	1.296000	0.44742	0.655000	0.94253	GCC		0.627	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		7	84	0	0	0	1	0	7	84				
NTSR1	4923	broad.mit.edu	37	20	61391444	61391444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:61391444C>T	ENST00000370501.3	+	4	1453	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	361					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACCATCAACCCCATCCTGTAC	0.592																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(1081-1083)cCc>cTc		neurotensin receptor 1 (high affinity)							265.0	223.0	237.0					20																	61391444		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61391444C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.1082C>T	20.37:g.61391444C>T	ENSP00000359532:p.Pro361Leu					NTSR1_ENST00000482259.1_3'UTR	p.P361L	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		4	1453	+	Breast(26;3.65e-08)		361					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.1082C>T	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195257	0.78902	.	.	ENSG00000101188	ENST00000370501	D	0.98807	-5.15	4.71	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.137813	0.48767	D	0.000163	D	0.99284	0.9750	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99474	1.0946	10	0.87932	D	0	-38.4358	13.0825	0.59121	0.2931:0.7069:0.0:0.0	.	361	P30989	NTR1_HUMAN	L	361	ENSP00000359532:P361L	ENSP00000359532:P361L	P	+	2	0	NTSR1	60861889	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.718000	0.68455	0.352000	0.24053	-0.188000	0.12872	CCC		0.592	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			12	166	0	0	0	1	0	12	166				
SLC4A5	57835	broad.mit.edu	37	2	74491369	74491369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74491369C>T	ENST00000377634.4	-	10	1019	c.620G>A	c.(619-621)aGg>aAg	p.R207K	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R207K|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R207K|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R207K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R207K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R143K|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R207K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R143K					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTAACTGACCCTCTCCCGGAG	0.547																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(619-621)aGg>aAg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							161.0	141.0	148.0					2																	74491369		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491369C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.620G>A	2.37:g.74491369C>T	ENSP00000366861:p.Arg207Lys					SLC4A5_ENST00000377632.1_Missense_Mutation_p.R207K|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R207K|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R207K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R143K|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R207K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R207K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R143K	p.R207K	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			10	1017	-			207						Missense_Mutation	SNP	ENST00000377634.4	37	c.620G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	8.147	0.786613	0.16189	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.83	4.83	0.62350	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.045891	0.85682	D	0.000000	T	0.24812	0.0602	N	0.00754	-1.215	0.29082	N	0.882657	B;B;B;B;B	0.10296	0.001;0.003;0.0;0.002;0.002	B;B;B;B;B	0.16289	0.002;0.012;0.001;0.015;0.007	T	0.25950	-1.0117	10	0.02654	T	1	.	9.2232	0.37390	0.0:0.9036:0.0:0.0964	.	207;207;143;207;207	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	K	207;207;207;143;207;143;207;207;207;207;91	ENSP00000377587:R207K;ENSP00000251768:R207K;ENSP00000352461:R143K;ENSP00000395804:R207K;ENSP00000351513:R143K;ENSP00000350475:R207K;ENSP00000366859:R207K;ENSP00000366861:R207K;ENSP00000405678:R207K;ENSP00000414162:R91K	ENSP00000251768:R207K	R	-	2	0	SLC4A5	74344877	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	3.897000	0.56273	2.648000	0.89879	0.655000	0.94253	AGG		0.547	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			12	31	0	0	0	1	0	12	31				
SDHAP1	255812	broad.mit.edu	37	3	195692315	195692315	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195692315G>A	ENST00000427841.1	-	0	2187					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CAGTGCTGACGTCCACATAGG	0.607																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195692315G>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195692315G>A								NR_003264.2						0	2187	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.607	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	11	0	0	0	1	0	3	11				
PHF12	57649	broad.mit.edu	37	17	27235800	27235800	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:27235800C>T	ENST00000332830.4	-	12	3269		c.e12+1		PHF12_ENST00000577226.1_3'UTR|PHF12_ENST00000582655.1_5'Flank	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GGCTGGCTCACCTGTCCCGAT	0.542																																						ENST00000332830.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.e12+1		PHD finger protein 12							74.0	61.0	65.0					17																	27235800		2203	4300	6503	SO:0001630	splice_region_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27235800C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2458+1G>A	17.37:g.27235800C>T						PHF12_ENST00000577226.1_3'UTR		NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		12	3269	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)								Splice_Site	SNP	ENST00000332830.4	37		CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962585	0.92791	.	.	ENSG00000109118	ENST00000332830	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1798	0.89773	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF12	24259926	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.412000	0.80091	2.708000	0.92522	0.467000	0.42956	.		0.542	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	Intron	9	15	0	0	0	1	0	9	15				
KIAA1614	57710	broad.mit.edu	37	1	180885556	180885556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:180885556C>T	ENST00000367588.4	+	2	372	c.317C>T	c.(316-318)gCt>gTt	p.A106V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	106										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCTGCTCTGCTTCCCAAGAG	0.592																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(316-318)gCt>gTt		KIAA1614							80.0	89.0	86.0					1																	180885556		2039	4180	6219	SO:0001583	missense	57710							g.chr1:180885556C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.317C>T	1.37:g.180885556C>T	ENSP00000356560:p.Ala106Val						p.A106V	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	372	+			106					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.317C>T	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283817	0.23392	.	.	ENSG00000135835	ENST00000367588	T	0.05258	3.47	4.87	1.77	0.24775	.	1.150790	0.06583	N	0.750724	T	0.04588	0.0125	N	0.14661	0.345	0.23946	N	0.996381	B	0.13145	0.007	B	0.10450	0.005	T	0.38243	-0.9670	9	0.49607	T	0.09	-0.1034	5.9183	0.19067	0.0:0.6646:0.0:0.3354	.	106	Q5VZ46	K1614_HUMAN	V	106	ENSP00000356560:A106V	ENSP00000356560:A106V	A	+	2	0	KIAA1614	179152179	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.248000	0.18198	0.650000	0.30769	0.655000	0.94253	GCT		0.592	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		5	69	0	0	0	1	0	5	69				
BTBD10	84280	broad.mit.edu	37	11	13410434	13410434	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:13410434G>T	ENST00000278174.5	-	9	1617	c.1372C>A	c.(1372-1374)Cat>Aat	p.H458N	BTBD10_ENST00000528120.1_Missense_Mutation_p.H410N|BTBD10_ENST00000530907.1_Missense_Mutation_p.H466N	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	458	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GAAGGGGGATGGATAGGGAGA	0.498																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(1372-1374)Cat>Aat		BTB (POZ) domain containing 10							161.0	130.0	141.0					11																	13410434		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13410434G>T	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.1372C>A	11.37:g.13410434G>T	ENSP00000278174:p.His458Asn					BTBD10_ENST00000530907.1_Missense_Mutation_p.H466N|BTBD10_ENST00000528120.1_Missense_Mutation_p.H410N	p.H458N	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	9	1617	-			458					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.1372C>A	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477201	0.26511	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.31510	1.51;1.49;1.53	4.89	4.89	0.63831	.	0.174068	0.50627	D	0.000116	T	0.18299	0.0439	N	0.08118	0	0.80722	D	1	B;B;B	0.18310	0.004;0.027;0.027	B;B;B	0.16289	0.013;0.015;0.015	T	0.06250	-1.0837	10	0.22706	T	0.39	-41.7596	17.8301	0.88679	0.0:0.0:1.0:0.0	.	466;458;458	B7Z228;D3DQW7;Q9BSF8	.;.;BTBDA_HUMAN	N	458;466;410	ENSP00000278174:H458N;ENSP00000431186:H466N;ENSP00000435257:H410N	ENSP00000278174:H458N	H	-	1	0	BTBD10	13367010	1.000000	0.71417	0.761000	0.31378	0.942000	0.58702	9.329000	0.96413	2.526000	0.85167	0.555000	0.69702	CAT		0.498	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		4	56	1	0	0.00909568	1	0.00910396	4	56				
POU6F2	11281	broad.mit.edu	37	7	39503871	39503871	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:39503871C>T	ENST00000403058.1	+	11	1816	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G	POU6F2_ENST00000559001.1_Silent_p.G499G|POU6F2_ENST00000518318.2_Intron	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	554	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAACCCTGGCCTTTTGTATC	0.542																																						ENST00000559001.1																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1495-1497)ggC>ggT		POU class 6 homeobox 2							120.0	127.0	124.0					7																	39503871		2203	4300	6503	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39503871C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1662C>T	7.37:g.39503871C>T						POU6F2_ENST00000403058.1_Silent_p.G554G|POU6F2_ENST00000518318.2_Intron	p.G499G			P78424	PO6F2_HUMAN			8	1598	+			554			POU-specific.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.1497C>T	CCDS34620.2																																																																																				0.542	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		4	148	0	0	0	1	0	4	148				
ADAM21	8747	broad.mit.edu	37	14	70925564	70925564	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:70925564C>T	ENST00000603540.1	+	2	1606	c.1348C>T	c.(1348-1350)Ctt>Ttt	p.L450F	ADAM21_ENST00000267499.3_Missense_Mutation_p.L450F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	450	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCTTTTGGGCTTTGTTGCAA	0.493																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(1348-1350)Ctt>Ttt		ADAM metallopeptidase domain 21							64.0	62.0	62.0					14																	70925564		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925564C>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1348C>T	14.37:g.70925564C>T	ENSP00000474385:p.Leu450Phe					RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.L450F	p.L450F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1606	+			450			Disintegrin.		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.1348C>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723300	0.48728	.	.	ENSG00000139985	ENST00000267499	T	0.12255	2.7	4.48	3.51	0.40186	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (6);	0.439888	0.16597	N	0.207482	T	0.47192	0.1432	H	0.94925	3.6	0.29490	N	0.855703	D	0.67145	0.996	D	0.71184	0.972	T	0.54118	-0.8341	10	0.66056	D	0.02	.	14.1833	0.65588	0.1973:0.8027:0.0:0.0	.	450	Q9UKJ8	ADA21_HUMAN	F	450	ENSP00000267499:L450F	ENSP00000267499:L450F	L	+	1	0	ADAM21	69995317	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	-0.675000	0.05227	2.480000	0.83734	0.557000	0.71058	CTT		0.493	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			6	45	0	0	0	1	0	6	45				
DGKG	1608	broad.mit.edu	37	3	185983044	185983044	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:185983044C>T	ENST00000265022.3	-	14	1800	c.1261G>A	c.(1261-1263)Gtc>Atc	p.V421I	DGKG_ENST00000382164.4_Missense_Mutation_p.V382I|DGKG_ENST00000344484.4_Missense_Mutation_p.V421I|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	421					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCTGCATGACAAGTTCGCCC	0.507																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1261-1263)Gtc>Atc		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						85.0	67.0	73.0					3																	185983044		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185983044C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1261G>A	3.37:g.185983044C>T	ENSP00000265022:p.Val421Ile					DGKG_ENST00000382164.4_Missense_Mutation_p.V382I|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.V421I	p.V421I	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	14	1800	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		421					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1261G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075727	0.20227	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000538691	D;D;D	0.83591	-1.58;-1.61;-1.74	4.11	3.23	0.37069	.	0.707357	0.13223	N	0.404279	T	0.66046	0.2750	N	0.11560	0.145	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.15052	0.012;0.003;0.001	T	0.58736	-0.7584	10	0.29301	T	0.29	.	7.9775	0.30164	0.0:0.8898:0.0:0.1102	.	421;382;421	P49619-2;P49619-3;P49619	.;.;DGKG_HUMAN	I	421;421;382;385	ENSP00000265022:V421I;ENSP00000339777:V421I;ENSP00000371599:V382I	ENSP00000265022:V421I	V	-	1	0	DGKG	187465738	0.984000	0.35163	0.968000	0.41197	0.396000	0.30629	1.711000	0.37930	1.338000	0.45544	0.650000	0.86243	GTC		0.507	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			7	29	0	0	0	1	0	7	29				
APEX1	328	broad.mit.edu	37	14	20924253	20924253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:20924253G>A	ENST00000216714.3	+	3	507	c.239G>A	c.(238-240)gGa>gAa	p.G80E	APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Missense_Mutation_p.G80E|APEX1_ENST00000555414.1_Missense_Mutation_p.G80E|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Intron|OSGEP_ENST00000206542.4_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	80	Nuclear export signal (NES).				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	AAGAAGAAAGGATTAGATGTG	0.458								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(238-240)gGa>gAa	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						62.0	63.0	63.0					14																	20924253		2203	4300	6503	SO:0001583	missense	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20924253G>A	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.239G>A	14.37:g.20924253G>A	ENSP00000216714:p.Gly80Glu					APEX1_ENST00000555414.1_Missense_Mutation_p.G80E|APEX1_ENST00000398030.4_Missense_Mutation_p.G80E|APEX1_ENST00000557054.1_Intron|APEX1_ENST00000557365.1_3'UTR	p.G80E	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	3	507	+	all_cancers(95;0.00123)	all_lung(585;0.235)	80			Nuclear export signal (NES).		Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.239G>A	CCDS9550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.16|19.16	3.772880|3.772880	0.69992|0.69992	.|.	.|.	ENSG00000100823|ENSG00000100823	ENST00000438886|ENST00000555414;ENST00000216714;ENST00000553681;ENST00000557344;ENST00000398030;ENST00000557181;ENST00000555839;ENST00000556054;ENST00000557592;ENST00000557150	.|T;T;T;T;T;T;T;T;T;T	.|0.80123	.|-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Endonuclease/exonuclease/phosphatase (2);	.|0.050450	.|0.85682	.|D	.|0.000000	D|D	0.88829|0.88829	0.6543|0.6543	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	D|D	0.86901|0.86901	0.2054|0.2054	5|10	.|0.38643	.|T	.|0.18	.|.	18.9248|18.9248	0.92540|0.92540	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|80	.|P27695	.|APEX1_HUMAN	N|E	30|80;80;80;80;80;80;80;80;63;63	.|ENSP00000451979:G80E;ENSP00000216714:G80E;ENSP00000451327:G80E;ENSP00000452137:G80E;ENSP00000381111:G80E;ENSP00000452304:G80E;ENSP00000452460:G80E;ENSP00000451170:G80E;ENSP00000451060:G63E;ENSP00000452418:G63E	.|ENSP00000216714:G80E	D|G	+|+	1|2	0|0	APEX1|APEX1	19994093|19994093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.225000|7.225000	0.78051|0.78051	2.758000|2.758000	0.94735|0.94735	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.458	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		17	29	0	0	0	1	0	17	29				
MLH3	27030	broad.mit.edu	37	14	75514314	75514314	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75514314C>T	ENST00000556740.1	-	1	2080	c.2045G>A	c.(2044-2046)gGg>gAg	p.G682E	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.G682E|MLH3_ENST00000355774.2_Missense_Mutation_p.G682E|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.G682E			Q9UHC1	MLH3_HUMAN	mutL homolog 3	682					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATTCTCTAGCCCATAACTTAT	0.358								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(2044-2046)gGg>gAg	Mismatch excision repair (MMR)	mutL homolog 3							86.0	87.0	86.0					14																	75514314		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514314C>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2045G>A	14.37:g.75514314C>T	ENSP00000452316:p.Gly682Glu					MLH3_ENST00000556257.1_Missense_Mutation_p.G682E|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.G682E|MLH3_ENST00000556740.1_Missense_Mutation_p.G682E	p.G682E	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2260	-			682					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2045G>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	5.722	0.317737	0.10845	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	6.07	2.24	0.28232	.	0.804528	0.11880	N	0.520612	T	0.21761	0.0524	L	0.41824	1.3	0.09310	N	1	B;B	0.23249	0.082;0.015	B;B	0.22601	0.04;0.006	T	0.34700	-0.9818	10	0.87932	D	0	0.0	1.7213	0.02912	0.1298:0.4285:0.1261:0.3156	.	682;682	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	E	682	ENSP00000348020:G682E;ENSP00000238662:G682E;ENSP00000451540:G682E;ENSP00000452316:G682E	ENSP00000238662:G682E	G	-	2	0	MLH3	74584067	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.259000	0.18405	0.149000	0.19098	0.655000	0.94253	GGG		0.358	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		6	126	0	0	0	1	0	6	126				
DISP2	85455	broad.mit.edu	37	15	40660793	40660793	+	Missense_Mutation	SNP	C	C	T	rs147645156	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40660793C>T	ENST00000267889.3	+	8	2567	c.2480C>T	c.(2479-2481)aCc>aTc	p.T827I	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	827					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTCTTCGACACCCTGCAGGAA	0.697																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(2479-2481)aCc>aTc		dispatched homolog 2 (Drosophila)							27.0	31.0	30.0					15																	40660793		2202	4299	6501	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40660793C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2480C>T	15.37:g.40660793C>T	ENSP00000267889:p.Thr827Ile						p.T827I	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	2567	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	827					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.2480C>T	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	1.543	-0.541319	0.04053	.	.	ENSG00000140323	ENST00000267889	T	0.12255	2.7	5.29	-1.39	0.08997	.	1.132920	0.06380	N	0.715093	T	0.06962	0.0177	N	0.14661	0.345	0.09310	N	1	B	0.20988	0.05	B	0.15484	0.013	T	0.39251	-0.9623	10	0.39692	T	0.17	-0.0046	2.9155	0.05751	0.1137:0.455:0.1061:0.3252	.	827	A7MBM2	DISP2_HUMAN	I	827	ENSP00000267889:T827I	ENSP00000267889:T827I	T	+	2	0	DISP2	38448085	0.000000	0.05858	0.017000	0.16124	0.060000	0.15804	-0.127000	0.10547	0.077000	0.16863	0.561000	0.74099	ACC		0.697	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		21	36	0	0	0	1	0	21	36				
CDH16	1014	broad.mit.edu	37	16	66945924	66945924	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:66945924C>T	ENST00000299752.4	-	13	1861	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	CDH16_ENST00000570262.1_Silent_p.E476E|CDH16_ENST00000565796.1_Silent_p.E556E|CDH16_ENST00000568632.1_Silent_p.E459E|CDH16_ENST00000394055.3_Silent_p.E556E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCATCACTCTCTCCACTAGCA	0.652																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1666-1668)gaG>gaA		cadherin 16, KSP-cadherin							93.0	87.0	89.0					16																	66945924		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66945924C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1668G>A	16.37:g.66945924C>T						CDH16_ENST00000568632.1_Silent_p.E459E|CDH16_ENST00000565796.1_Silent_p.E556E|CDH16_ENST00000570262.1_Silent_p.E476E|CDH16_ENST00000394055.3_Silent_p.E556E	p.E556E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	13	1861	-		Ovarian(137;0.0563)	556			Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.1668G>A	CCDS10823.1																																																																																				0.652	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		20	45	0	0	0	1	0	20	45				
DMPK	1760	broad.mit.edu	37	19	46283048	46283048	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46283048C>T	ENST00000291270.4	-	2	365	c.240G>A	c.(238-240)ggG>ggA	p.G80G	DMPK_ENST00000354227.5_Silent_p.G80G|AC011530.4_ENST00000593999.1_3'UTR|DMPK_ENST00000447742.2_Silent_p.G80G|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000458663.2_Silent_p.G80G|DMPK_ENST00000600757.1_Silent_p.G90G|DMPK_ENST00000343373.4_Silent_p.G90G	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CGCTGAACGCCCCGCGTCCGA	0.632																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(268-270)ggG>ggA		dystrophia myotonica-protein kinase							52.0	54.0	53.0					19																	46283048		2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46283048C>T	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.240G>A	19.37:g.46283048C>T						DMPK_ENST00000343373.4_Silent_p.G90G|AC011530.4_ENST00000593999.1_3'UTR|DMPK_ENST00000354227.5_Silent_p.G80G|DMPK_ENST00000458663.2_Silent_p.G80G|DMPK_ENST00000291270.4_Silent_p.G80G|DMPK_ENST00000447742.2_Silent_p.G80G	p.G90G			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	1	957	-		Ovarian(192;0.0308)|all_neural(266;0.112)	90			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.270G>A	CCDS12674.1																																																																																				0.632	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		26	49	0	0	0	1	0	26	49				
SZT2	23334	broad.mit.edu	37	1	43891596	43891596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43891596C>T	ENST00000562955.1	+	20	2905	c.2905C>T	c.(2905-2907)Ccc>Tcc	p.P969S	SZT2_ENST00000372442.1_Missense_Mutation_p.P127S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	969					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)				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						GGGTCCTCTGCCCCCAGAGCC	0.597																																						ENST00000562955.1																			0				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						c.(2905-2907)Ccc>Tcc		seizure threshold 2 homolog (mouse)							72.0	73.0	73.0					1																	43891596		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43891596C>T	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.2905C>T	1.37:g.43891596C>T	ENSP00000457168:p.Pro969Ser					SZT2_ENST00000372442.1_Missense_Mutation_p.P127S	p.P969S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			20	2905	+			969					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.2905C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040611	0.55003	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.98	5.02	0.67125	.	0.122240	0.56097	D	0.000028	T	0.23532	0.0569	N	0.12182	0.205	0.23468	N	0.997616	B;B	0.24823	0.003;0.112	B;B	0.17722	0.005;0.019	T	0.09037	-1.0693	9	0.41790	T	0.15	.	9.5909	0.39545	0.0:0.6738:0.2548:0.0715	.	969;969	Q5T011-4;Q5T011-5	.;.	S	127	.	ENSP00000361519:P127S	P	+	1	0	SZT2	43664183	0.022000	0.18835	1.000000	0.80357	0.848000	0.48234	0.894000	0.28350	2.847000	0.97988	0.591000	0.81541	CCC		0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		27	58	0	0	0	1	0	27	58				
DHX9	1660	broad.mit.edu	37	1	182852725	182852725	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:182852725C>T	ENST00000367549.3	+	26	3325	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1072					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CTCTTTGCCTCCAAGAAAGTC	0.413																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				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						c.(3214-3216)tCc>tTc		DEAH (Asp-Glu-Ala-His) box helicase 9							118.0	110.0	113.0					1																	182852725		1843	4098	5941	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182852725C>T	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.3215C>T	1.37:g.182852725C>T	ENSP00000356520:p.Ser1072Phe					DHX9_ENST00000485081.1_3'UTR	p.S1072F	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			26	3325	+			1072					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.3215C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169266	0.78339	.	.	ENSG00000135829	ENST00000367549	T	0.60299	0.2	5.39	5.39	0.77823	Domain of unknown function DUF1605 (1);	0.125811	0.56097	D	0.000036	T	0.74869	0.3773	M	0.73217	2.22	0.80722	D	1	P;D	0.53462	0.924;0.96	P;D	0.63033	0.845;0.91	T	0.77523	-0.2556	10	0.87932	D	0	.	18.7749	0.91907	0.0:1.0:0.0:0.0	.	351;1072	B3KU66;Q08211	.;DHX9_HUMAN	F	1072	ENSP00000356520:S1072F	ENSP00000356520:S1072F	S	+	2	0	DHX9	181119348	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.538000	0.67193	2.506000	0.84524	0.655000	0.94253	TCC		0.413	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		5	107	0	0	0	1	0	5	107				
PARVA	55742	broad.mit.edu	37	11	12540035	12540035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:12540035G>A	ENST00000550549.1	+	12	1062	c.1013G>A	c.(1012-1014)gGg>gAg	p.G338E	PARVA_ENST00000334956.8_Missense_Mutation_p.G378E|PARVA_ENST00000539723.1_Missense_Mutation_p.G338E			Q9NVD7	PARVA_HUMAN	parvin, alpha	338	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G337_G338insDG(3)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CAAGATGGAGGGTTGGAAAAG	0.512																																						ENST00000334956.8																			3	Insertion - In frame(3)	p.G337_G338insDG(3)	breast(3)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11						c.(1132-1134)gGg>gAg		parvin, alpha							89.0	87.0	87.0					11																	12540035		1965	4146	6111	SO:0001583	missense	55742				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	g.chr11:12540035G>A	AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.1013G>A	11.37:g.12540035G>A	ENSP00000447198:p.Gly338Glu					PARVA_ENST00000539723.1_Missense_Mutation_p.G338E|PARVA_ENST00000550549.1_Missense_Mutation_p.G338E	p.G378E	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN		Epithelial(150;0.00624)	12	1476	+			338					Q96C85|Q9HA48	Missense_Mutation	SNP	ENST00000550549.1	37	c.1133G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.061577	0.93846	.	.	ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549	T;T;T	0.70399	-0.48;-0.48;-0.48	4.62	4.62	0.57501	Calponin homology domain (5);	0.060037	0.64402	D	0.000003	T	0.82259	0.4998	M	0.78285	2.405	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	D	0.84590	0.0666	10	0.56958	D	0.05	-3.504	17.2788	0.87122	0.0:0.0:1.0:0.0	.	338	Q9NVD7	PARVA_HUMAN	E	378;338;338	ENSP00000334008:G378E;ENSP00000438967:G338E;ENSP00000447198:G338E	ENSP00000334008:G378E	G	+	2	0	PARVA	12496611	1.000000	0.71417	0.968000	0.41197	0.995000	0.86356	9.618000	0.98365	2.396000	0.81511	0.655000	0.94253	GGG		0.512	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018222		10	8	0	0	0	1	0	10	8				
RIMS3	9783	broad.mit.edu	37	1	41101661	41101661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:41101661G>A	ENST00000372684.3	-	4	755	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	RIMS3_ENST00000372683.1_Missense_Mutation_p.R96W	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	96					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			ACCCGGCTCCGCATCTCCACC	0.682																																						ENST00000372684.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(286-288)Cgg>Tgg		regulating synaptic membrane exocytosis 3							71.0	63.0	66.0					1																	41101661		2203	4300	6503	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41101661G>A	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.286C>T	1.37:g.41101661G>A	ENSP00000361769:p.Arg96Trp					RIMS3_ENST00000372683.1_Missense_Mutation_p.R96W	p.R96W	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		4	755	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	96					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.286C>T	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434174	0.83776	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.38887	1.11;1.11	5.01	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.58736	-0.7584	10	0.87932	D	0	-24.1876	10.0028	0.41940	0.0:0.0:0.7045:0.2955	.	96	Q9UJD0	RIMS3_HUMAN	W	96	ENSP00000361769:R96W;ENSP00000361768:R96W	ENSP00000361768:R96W	R	-	1	2	RIMS3	40874248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.239000	0.32719	2.626000	0.88956	0.650000	0.86243	CGG		0.682	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		15	41	0	0	0	1	0	15	41				
PITPNA	5306	broad.mit.edu	37	17	1451589	1451589	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1451589C>T	ENST00000313486.7	-	4	545		c.e4+1		PITPNA_ENST00000539476.1_Splice_Site	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha						axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		GCTGCACTCACCGGTTCTGCA	0.622																																						ENST00000313486.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.e4+1		phosphatidylinositol transfer protein, alpha							55.0	59.0	58.0					17																	1451589		1935	4123	6058	SO:0001630	splice_region_variant	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1451589C>T	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.289+1G>A	17.37:g.1451589C>T						PITPNA_ENST00000539476.1_Splice_Site		NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	4	545	-									Splice_Site	SNP	ENST00000313486.7	37		CCDS45563.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324492	0.81580	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9446	0.92616	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PITPNA	1398339	1.000000	0.71417	0.997000	0.53966	0.680000	0.39746	7.818000	0.86416	2.708000	0.92522	0.650000	0.86243	.		0.622	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3		Intron	30	54	0	0	0	1	0	30	54				
CNTNAP2	26047	broad.mit.edu	37	7	146536893	146536893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:146536893C>T	ENST00000361727.3	+	3	815	c.299C>T	c.(298-300)aCc>aTc	p.T100I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	100	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCCATTGCAACCCAAGGAAGG	0.502										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(298-300)aCc>aTc		contactin associated protein-like 2							103.0	90.0	94.0					7																	146536893		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536893C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.299C>T	7.37:g.146536893C>T	ENSP00000354778:p.Thr100Ile	HNSCC(39;0.1)					p.T100I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	815	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	100			F5/8 type C.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.299C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817231	0.90790	.	.	ENSG00000174469	ENST00000361727	D	0.98178	-4.77	5.83	5.83	0.93111	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000030	D	0.99061	0.9678	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.99505	1.0954	10	0.54805	T	0.06	.	18.6885	0.91574	0.0:1.0:0.0:0.0	.	100	Q9UHC6	CNTP2_HUMAN	I	100	ENSP00000354778:T100I	ENSP00000354778:T100I	T	+	2	0	CNTNAP2	146167826	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.818000	0.86416	2.760000	0.94817	0.650000	0.86243	ACC		0.502	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			15	62	0	0	0	1	0	15	62				
TAS1R3	83756	broad.mit.edu	37	1	1266849	1266849	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:1266849C>T	ENST00000339381.5	+	1	156	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	42					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGGGCTGTTCCCCCTGGGCGA	0.697																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(124-126)Ccc>Tcc		taste receptor, type 1, member 3	Aspartame(DB00168)						10.0	11.0	11.0					1																	1266849		2155	4219	6374	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1266849C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.124C>T	1.37:g.1266849C>T	ENSP00000344411:p.Pro42Ser						p.P42S	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	1	156	+	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)	42					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.124C>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356744	0.61293	.	.	ENSG00000169962	ENST00000339381	D	0.89123	-2.47	4.18	4.18	0.49190	.	0.067787	0.64402	D	0.000010	D	0.87462	0.6183	N	0.08118	0	0.51012	D	0.999902	D	0.89917	1.0	D	0.97110	1.0	D	0.88162	0.2858	10	0.38643	T	0.18	.	14.4249	0.67207	0.0:1.0:0.0:0.0	.	42	Q7RTX0	TS1R3_HUMAN	S	42	ENSP00000344411:P42S	ENSP00000344411:P42S	P	+	1	0	TAS1R3	1256712	0.994000	0.37717	0.959000	0.39883	0.063000	0.16089	3.185000	0.50934	2.145000	0.66743	0.313000	0.20887	CCC		0.697	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			9	15	0	0	0	1	0	9	15				
SSX9	280660	broad.mit.edu	37	X	48163039	48163039	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:48163039C>T	ENST00000608568.1	-	0	366					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						ATCTACTCACCCTGATTCCTG	0.488																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.e4+1									141.0	133.0	136.0					X																	48163039		2203	4297	6500			0							g.chrX:48163039C>T	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48163039C>T						SSX9_ENST00000407081.2_Splice_Site_p.V94_splice	p.V94_splice							4	342	-									Splice_Site	SNP	ENST00000608568.1	37	c.280_splice		.	.	.	.	.	.	.	.	.	.	c	8.362	0.833365	0.16820	.	.	ENSG00000204648	ENST00000376909;ENST00000407081	T;T	0.11277	2.79;2.79	1.51	0.6	0.17524	.	1.668520	0.04039	N	0.302788	T	0.12774	0.0310	.	.	.	0.09310	N	1	P	0.44260	0.83	P	0.47402	0.546	T	0.17471	-1.0368	8	.	.	.	.	3.6383	0.08157	0.0:0.7317:0.0:0.2683	.	94	Q7RTT3	SSX9_HUMAN	I	94	ENSP00000366107:V94I;ENSP00000385293:V94I	.	V	-	1	0	SSX9	48047983	0.001000	0.12720	0.007000	0.13788	0.070000	0.16714	-0.987000	0.03743	0.125000	0.18397	0.171000	0.16805	GTT		0.488	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		7	151	0	0	0	1	0	7	151				
GTPBP1	9567	broad.mit.edu	37	22	39117798	39117798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:39117798G>A	ENST00000216044.5	+	5	1119	c.886G>A	c.(886-888)Gca>Aca	p.A296T		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	296	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTGGGCTTGGCACTGGCACT	0.532																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(886-888)Gca>Aca		GTP binding protein 1							196.0	138.0	158.0					22																	39117798		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39117798G>A	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.886G>A	22.37:g.39117798G>A	ENSP00000216044:p.Ala296Thr						p.A296T	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			5	1119	+	Melanoma(58;0.04)		296					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.886G>A	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	37	6.059721	0.97246	.	.	ENSG00000100226	ENST00000216044	T	0.75367	-0.93	5.66	5.66	0.87406	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.88811	0.6538	M	0.88450	2.955	0.80722	D	1	D	0.65815	0.995	D	0.70935	0.971	D	0.89965	0.4089	10	0.66056	D	0.02	.	19.7525	0.96273	0.0:0.0:1.0:0.0	.	296	O00178	GTPB1_HUMAN	T	296	ENSP00000216044:A296T	ENSP00000216044:A296T	A	+	1	0	GTPBP1	37447744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.669000	0.90835	0.591000	0.81541	GCA		0.532	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		7	61	0	0	0	1	0	7	61				
LRRC2	79442	broad.mit.edu	37	3	46569064	46569064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:46569064C>T	ENST00000395905.3	-	7	1173	c.781G>A	c.(781-783)Gag>Aag	p.E261K	LRRC2_ENST00000296144.3_Missense_Mutation_p.E261K	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	261										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTCTGCAGCTCCTCTAGCCTA	0.413																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(781-783)Gag>Aag		leucine rich repeat containing 2							74.0	71.0	72.0					3																	46569064		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46569064C>T	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.781G>A	3.37:g.46569064C>T	ENSP00000379241:p.Glu261Lys					LRRC2_ENST00000296144.3_Missense_Mutation_p.E261K	p.E261K	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	7	1173	-		Ovarian(412;0.0563)	261					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.781G>A	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	8.964	0.971314	0.18736	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.55052	0.54;0.54	4.57	4.57	0.56435	.	0.327336	0.28772	N	0.014194	T	0.30665	0.0772	N	0.08118	0	0.44275	D	0.997133	B	0.31318	0.319	B	0.28784	0.094	T	0.15093	-1.0449	10	0.13470	T	0.59	.	15.6849	0.77402	0.0:1.0:0.0:0.0	.	261	Q9BYS8	LRRC2_HUMAN	K	261	ENSP00000379241:E261K;ENSP00000296144:E261K	ENSP00000296144:E261K	E	-	1	0	LRRC2	46544068	0.921000	0.31238	0.238000	0.24106	0.629000	0.37895	1.675000	0.37555	2.482000	0.83794	0.650000	0.86243	GAG		0.413	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			4	29	0	0	0	1	0	4	29				
ZNF474	133923	broad.mit.edu	37	5	121488002	121488002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:121488002C>T	ENST00000296600.4	+	2	700	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CTC-441N14.1_ENST00000505209.1_RNA|CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	106							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GAATTTGGGTCCCAGTCAATT	0.517																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(316-318)tCc>tTc		zinc finger protein 474							77.0	78.0	78.0					5																	121488002		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121488002C>T	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.317C>T	5.37:g.121488002C>T	ENSP00000296600:p.Ser106Phe					CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	p.S106F	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	700	+		all_cancers(142;0.229)|Prostate(80;0.0387)	106					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.317C>T	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153456	0.78114	.	.	ENSG00000164185	ENST00000296600	T	0.45276	0.9	5.58	5.58	0.84498	.	0.436800	0.23055	N	0.052441	T	0.66297	0.2775	M	0.79475	2.455	0.50313	D	0.999868	D	0.76494	0.999	D	0.83275	0.996	T	0.60591	-0.7233	10	0.21014	T	0.42	-10.8934	19.5796	0.95461	0.0:1.0:0.0:0.0	.	106	Q6S9Z5	ZN474_HUMAN	F	106	ENSP00000296600:S106F	ENSP00000296600:S106F	S	+	2	0	ZNF474	121515901	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	6.025000	0.70864	2.624000	0.88883	0.655000	0.94253	TCC		0.517	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		4	66	0	0	0	1	0	4	66				
NYNRIN	57523	broad.mit.edu	37	14	24885875	24885875	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24885875C>T	ENST00000382554.3	+	9	5238	c.4920C>T	c.(4918-4920)gaC>gaT	p.D1640D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1640	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TTGTGGCTGACCCAAACACCA	0.602																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4918-4920)gaC>gaT		NYN domain and retroviral integrase containing							44.0	48.0	47.0					14																	24885875		2025	4192	6217	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885875C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4920C>T	14.37:g.24885875C>T							p.D1640D	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5238	+			1640			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.4920C>T	CCDS45090.1																																																																																				0.602	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			5	46	0	0	0	1	0	5	46				
ZNF649	65251	broad.mit.edu	37	19	52394166	52394166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52394166C>T	ENST00000354957.3	-	5	1507	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E	ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.G380E|ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000485702.1_5'Flank|ZNF577_ENST00000301399.5_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAAGGCTTTCCCACAGTCACT	0.443																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1222-1224)gGg>gAg		zinc finger protein 649							155.0	153.0	154.0					19																	52394166		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394166C>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1223G>A	19.37:g.52394166C>T	ENSP00000347043:p.Gly408Glu					ZNF649_ENST00000600738.1_Missense_Mutation_p.G380E|CTC-429C10.2_ENST00000600329.1_RNA	p.G408E	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1507	-		all_neural(266;0.0602)	408					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1223G>A	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549235	0.27652	.	.	ENSG00000198093	ENST00000354957	T	0.06933	3.24	2.63	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.52011	1.625	0.23943	N	0.9964	P	0.40250	0.709	B	0.33042	0.157	T	0.18241	-1.0343	9	0.54805	T	0.06	.	12.0354	0.53423	0.0:1.0:0.0:0.0	.	408	Q9BS31	ZN649_HUMAN	E	408	ENSP00000347043:G408E	ENSP00000347043:G408E	G	-	2	0	ZNF649	57085978	0.149000	0.22717	0.981000	0.43875	0.344000	0.29017	0.763000	0.26517	1.309000	0.44985	0.404000	0.27445	GGG		0.443	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		7	195	0	0	0	1	0	7	195				
PARP8	79668	broad.mit.edu	37	5	50122611	50122611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:50122611C>T	ENST00000281631.5	+	19	2109	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	PARP8_ENST00000505554.1_Missense_Mutation_p.H630Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H651Y|PARP8_ENST00000503750.2_Missense_Mutation_p.H609Y|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.H362Y|PARP8_ENST00000514067.2_Missense_Mutation_p.H609Y	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	651	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TAATAGATCACATATTGTGAA	0.318																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1951-1953)Cat>Tat		poly (ADP-ribose) polymerase family, member 8							76.0	82.0	80.0					5																	50122611		2201	4296	6497	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50122611C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1951C>T	5.37:g.50122611C>T	ENSP00000281631:p.His651Tyr					PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.H609Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H651Y|PARP8_ENST00000503750.2_Missense_Mutation_p.H609Y|PARP8_ENST00000514342.2_Missense_Mutation_p.H362Y|PARP8_ENST00000505554.1_Missense_Mutation_p.H630Y	p.H651Y	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			19	2109	+		Lung NSC(810;0.0305)|Breast(144;0.222)	651			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1951C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583874	0.86748	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.49	5.49	0.81192	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	L	0.47716	1.5	0.80722	D	1	P;P;P	0.50528	0.851;0.908;0.936	P;D;P	0.64144	0.838;0.922;0.885	T	0.69614	-0.5098	8	.	.	.	-17.9676	19.7289	0.96175	0.0:1.0:0.0:0.0	.	543;609;651	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	Y	651;609;362;651;609;630;362;362	.	.	H	+	1	0	PARP8	50158368	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.408000	0.80041	2.737000	0.93849	0.650000	0.86243	CAT		0.318	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		19	51	0	0	0	1	0	19	51				
USP48	84196	broad.mit.edu	37	1	22055099	22055099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22055099C>T	ENST00000308271.9	-	11	2062	c.1414G>A	c.(1414-1416)Gtt>Att	p.V472I	USP48_ENST00000400301.1_Missense_Mutation_p.V472I|USP48_ENST00000421625.2_Missense_Mutation_p.V472I|USP48_ENST00000529637.1_Missense_Mutation_p.V471I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	472	DUSP 1. {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)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AGCTCCTTAACCTCTTCGTGT	0.423																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1414-1416)Gtt>Att		ubiquitin specific peptidase 48							217.0	188.0	198.0					1																	22055099		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22055099C>T	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1414G>A	1.37:g.22055099C>T	ENSP00000309262:p.Val472Ile					USP48_ENST00000529637.1_Missense_Mutation_p.V471I|USP48_ENST00000400301.1_Missense_Mutation_p.V472I|USP48_ENST00000421625.2_Missense_Mutation_p.V472I	p.V472I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	11	2062	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	472			DUSP 1.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.1414G>A	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434747	0.62955	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.06449	3.34;3.3;3.32;3.67	5.84	5.84	0.93424	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.059695	0.64402	D	0.000002	T	0.05731	0.0150	N	0.20685	0.6	0.80722	D	1	B;B;B;B;B;B	0.28350	0.087;0.038;0.208;0.11;0.041;0.024	B;B;B;B;B;B	0.25759	0.018;0.015;0.063;0.028;0.011;0.005	T	0.50180	-0.8858	10	0.26408	T	0.33	.	17.2998	0.87180	0.0:1.0:0.0:0.0	.	471;472;472;472;472;472	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	I	472;472;471;58;94;472	ENSP00000383157:V472I;ENSP00000309262:V472I;ENSP00000431949:V471I;ENSP00000406256:V472I	ENSP00000309262:V472I	V	-	1	0	USP48	21927686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GTT		0.423	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		18	113	0	0	0	1	0	18	113				
ELP5	23587	broad.mit.edu	37	17	7155916	7155916	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7155916G>A	ENST00000396628.2	+	1	311		c.e1+1		ELP5_ENST00000396627.2_Splice_Site|ELP5_ENST00000356683.2_Splice_Site|ELP5_ENST00000573657.1_Splice_Site|CTDNEP1_ENST00000572043.1_5'Flank|CTDNEP1_ENST00000318988.6_5'Flank|CTDNEP1_ENST00000574322.1_5'Flank|CTDNEP1_ENST00000573600.1_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000574993.1_Splice_Site|ELP5_ENST00000354429.2_Splice_Site|ELP5_ENST00000574255.1_Splice_Site	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5						chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											CTGCTTCGGGGTGAGAGCCAG	0.692																																						ENST00000574993.1																			0											c.e1+1		elongator acetyltransferase complex subunit 5							37.0	34.0	35.0					17																	7155916		2203	4300	6503	SO:0001630	splice_region_variant	23587							g.chr17:7155916G>A	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.94+1G>A	17.37:g.7155916G>A						ELP5_ENST00000396627.2_Splice_Site|ELP5_ENST00000573657.1_Splice_Site|ELP5_ENST00000574255.1_Splice_Site|ELP5_ENST00000396628.2_Splice_Site|ELP5_ENST00000356683.2_Splice_Site|ELP5_ENST00000354429.2_Splice_Site|RP1-4G17.5_ENST00000577138.1_Intron								1	311	+								A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Splice_Site	SNP	ENST00000396628.2	37		CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623889	0.66901	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7899	0.52063	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C17orf81	7096640	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.441000	0.59981	2.485000	0.83878	0.637000	0.83480	.		0.692	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362	Intron	5	10	0	0	0	1	0	5	10				
CASC5	57082	broad.mit.edu	37	15	40937208	40937208	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40937208G>A	ENST00000346991.5	+	16	6280	c.5890G>A	c.(5890-5892)Gca>Aca	p.A1964T	CTD-2339L15.3_ENST00000559841.1_RNA|CASC5_ENST00000399668.2_Missense_Mutation_p.A1938T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1964	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGCTTTCTGCATCGAACCA	0.358																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(5890-5892)Gca>Aca		cancer susceptibility candidate 5							133.0	132.0	133.0					15																	40937208		1819	4100	5919	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40937208G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5890G>A	15.37:g.40937208G>A	ENSP00000335463:p.Ala1964Thr					CTD-2339L15.3_ENST00000559841.1_RNA|CASC5_ENST00000399668.2_Missense_Mutation_p.A1938T	p.A1964T			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	16	6280	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1964			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.5890G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890838	0.52014	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.06371	3.31;3.31	5.05	3.1	0.35709	.	0.264156	0.37095	N	0.002250	T	0.09024	0.0223	L	0.56769	1.78	0.24512	N	0.994203	P;P	0.46912	0.886;0.551	P;B	0.46275	0.51;0.283	T	0.12760	-1.0535	10	0.37606	T	0.19	.	6.9463	0.24520	0.0905:0.0:0.7348:0.1747	.	1938;1964	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	T	1964;1938	ENSP00000335463:A1964T;ENSP00000382576:A1938T	ENSP00000335463:A1964T	A	+	1	0	CASC5	38724500	0.996000	0.38824	0.983000	0.44433	0.973000	0.67179	1.418000	0.34782	1.212000	0.43366	0.563000	0.77884	GCA		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		59	115	0	0	0	1	0	59	115				
SLC45A1	50651	broad.mit.edu	37	1	8399719	8399719	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:8399719G>A	ENST00000471889.1	+	8	2326	c.1941G>A	c.(1939-1941)ttG>ttA	p.L647L	SLC45A1_ENST00000289877.8_Silent_p.L647L|SLC45A1_ENST00000377479.2_Silent_p.L681L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	647					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCACCTTGCCTTACTCGC	0.542																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1939-1941)ttG>ttA		solute carrier family 45, member 1							190.0	178.0	182.0					1																	8399719		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8399719G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1941G>A	1.37:g.8399719G>A						SLC45A1_ENST00000377479.2_Silent_p.L681L|SLC45A1_ENST00000289877.8_Silent_p.L647L	p.L647L			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2326	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	647					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1941G>A	CCDS30577.1																																																																																				0.542	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			12	90	0	0	0	1	0	12	90				
LRRC41	10489	broad.mit.edu	37	1	46746215	46746215	+	Silent	SNP	A	A	G	rs371185030		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:46746215A>G	ENST00000343304.6	-	6	2059	c.1774T>C	c.(1774-1776)Ttg>Ctg	p.L592L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	592					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				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)					CCCATCTCCAACTGCTCCAGG	0.567																																						ENST00000343304.6																			0				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						c.(1774-1776)Ttg>Ctg		leucine rich repeat containing 41		A		0,4406		0,0,2203	54.0	62.0	59.0		1774	-5.4	0.9	1		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRRC41	NM_006369.4		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		592/813	46746215	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10489							g.chr1:46746215A>G	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.1774T>C	1.37:g.46746215A>G						LRRC41_ENST00000472710.1_5'UTR	p.L592L	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			6	2059	-	Acute lymphoblastic leukemia(166;0.155)		592					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.1774T>C	CCDS533.1																																																																																				0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		20	39	0	0	0	1	0	20	39				
DMRTC2	63946	broad.mit.edu	37	19	42351913	42351913	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42351913C>T	ENST00000269945.3	+	3	385	c.334C>T	c.(334-336)Cac>Tac	p.H112Y	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.H112Y	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	112					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGCTCCCAACCACTTCAGAAA	0.587																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(334-336)Cac>Tac		DMRT-like family C2							32.0	29.0	30.0					19																	42351913		2202	4296	6498	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351913C>T	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.334C>T	19.37:g.42351913C>T	ENSP00000269945:p.His112Tyr					DMRTC2_ENST00000596827.1_Missense_Mutation_p.H112Y|DMRTC2_ENST00000602098.1_3'UTR	p.H112Y	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			3	385	+			112					Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.334C>T	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	2.502	-0.314870	0.05422	.	.	ENSG00000142025	ENST00000269945	.	.	.	5.3	3.17	0.36434	.	8.571550	0.00166	N	0.000001	T	0.28267	0.0698	L	0.40543	1.245	0.09310	N	1	P;B	0.49185	0.92;0.0	B;B	0.40636	0.335;0.001	T	0.33929	-0.9849	9	0.02654	T	1	0.0229	6.8144	0.23822	0.1748:0.7352:0.0:0.09	.	112;112	B4DX56;Q8IXT2	.;DMRTD_HUMAN	Y	112	.	ENSP00000269945:H112Y	H	+	1	0	DMRTC2	47043753	0.006000	0.16342	0.004000	0.12327	0.117000	0.20001	1.291000	0.33330	0.741000	0.32674	0.655000	0.94253	CAC		0.587	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		3	4	0	0	0	1	0	3	4				
GPR113	165082	broad.mit.edu	37	2	26537438	26537438	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:26537438C>T	ENST00000311519.1	-	7	975	c.976G>A	c.(976-978)Gtg>Atg	p.V326M	GPR113_ENST00000333478.6_Missense_Mutation_p.V127M|GPR113_ENST00000459892.1_Intron|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Missense_Mutation_p.V257M	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	326					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCTCACCACCTCATACAGG	0.602																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(379-381)Gtg>Atg		G protein-coupled receptor 113							129.0	101.0	111.0					2																	26537438		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26537438C>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.976G>A	2.37:g.26537438C>T	ENSP00000307831:p.Val326Met					GPR113_ENST00000311519.1_Missense_Mutation_p.V326M|GPR113_ENST00000459892.1_Intron|GPR113_ENST00000421160.2_Missense_Mutation_p.V257M|GPR113_ENST00000541401.1_Intron	p.V127M	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			4	961	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		326					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.379G>A	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118571	0.37436	.	.	ENSG00000173567	ENST00000333478;ENST00000421160;ENST00000311519	T;T;T	0.31769	1.48;3.14;3.14	5.3	-5.08	0.02929	.	.	.	.	.	T	0.28200	0.0696	L	0.58101	1.795	0.09310	N	0.999996	P;P;P	0.50272	0.593;0.933;0.713	B;P;B	0.48901	0.343;0.594;0.343	T	0.17319	-1.0373	8	.	.	.	0.0013	2.0485	0.03566	0.1104:0.2173:0.3266:0.3457	.	257;127;326	E9PEV1;Q8IZF5-2;Q8IZF5	.;.;GP113_HUMAN	M	127;257;326	ENSP00000327396:V127M;ENSP00000388537:V257M;ENSP00000307831:V326M	.	V	-	1	0	GPR113	26390942	0.040000	0.19996	0.002000	0.10522	0.182000	0.23217	-0.641000	0.05434	-0.663000	0.05331	0.462000	0.41574	GTG		0.602	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		9	42	0	0	0	1	0	9	42				
ABI3	51225	broad.mit.edu	37	17	47299928	47299928	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:47299928C>T	ENST00000225941.1	+	8	1450	c.952C>T	c.(952-954)Cca>Tca	p.P318S	ABI3_ENST00000419580.2_Missense_Mutation_p.P312S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	318	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GACACTGTACCCATACACCAG	0.602										HNSCC(55;0.14)																												ENST00000225941.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12						c.(952-954)Cca>Tca		ABI family, member 3							127.0	92.0	104.0					17																	47299928		2203	4300	6503	SO:0001583	missense	51225				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	g.chr17:47299928C>T	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.952C>T	17.37:g.47299928C>T	ENSP00000225941:p.Pro318Ser	HNSCC(55;0.14)				ABI3_ENST00000419580.2_Missense_Mutation_p.P312S	p.P318S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		8	1450	+			318			SH3.		C9IZN8|Q9H0P6	Missense_Mutation	SNP	ENST00000225941.1	37	c.952C>T	CCDS11546.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232421	0.79688	.	.	ENSG00000108798	ENST00000225941;ENST00000419580	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	Src homology-3 domain (5);	0.075730	0.53938	D	0.000048	T	0.52041	0.1710	N	0.04260	-0.245	0.51767	D	0.999936	D;D	0.76494	0.999;0.999	D;D	0.72982	0.964;0.979	T	0.65010	-0.6272	10	0.62326	D	0.03	-11.7326	16.4648	0.84076	0.0:1.0:0.0:0.0	.	312;318	Q9P2A4-2;Q9P2A4	.;ABI3_HUMAN	S	318;312	ENSP00000225941:P318S;ENSP00000406651:P312S	ENSP00000225941:P318S	P	+	1	0	ABI3	44654927	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.515000	0.45512	2.413000	0.81919	0.462000	0.41574	CCA		0.602	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428		14	32	0	0	0	1	0	14	32				
PPM1D	8493	broad.mit.edu	37	17	58734008	58734008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:58734008G>A	ENST00000305921.3	+	5	1298	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	356	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCGAGCATTGGGCCGCTGGAG	0.458																																						ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1066-1068)Ggc>Agc		protein phosphatase, Mg2+/Mn2+ dependent, 1D							81.0	77.0	78.0					17																	58734008		2203	4300	6503	SO:0001583	missense	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58734008G>A	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1066G>A	17.37:g.58734008G>A	ENSP00000306682:p.Gly356Ser						p.G356S	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1298	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		356			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	c.1066G>A	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505644	0.44558	.	.	ENSG00000170836	ENST00000305921;ENST00000544712;ENST00000392995	T;T	0.16897	2.31;2.31	5.86	5.86	0.93980	Protein phosphatase 2C-like (4);	0.208977	0.50627	D	0.000107	T	0.07773	0.0195	N	0.01800	-0.715	0.40525	D	0.980872	B	0.28208	0.203	B	0.31686	0.134	T	0.23691	-1.0181	10	0.06236	T	0.91	-9.7928	18.4397	0.90662	0.0:0.0:1.0:0.0	.	356	O15297	PPM1D_HUMAN	S	356;204;356	ENSP00000306682:G356S;ENSP00000376720:G356S	ENSP00000306682:G356S	G	+	1	0	PPM1D	56088790	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.472000	0.60189	2.793000	0.96121	0.644000	0.83932	GGC		0.458	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		26	51	0	0	0	1	0	26	51				
DEFA3	1668	broad.mit.edu	37	8	6873621	6873621	+	Splice_Site	SNP	C	C	T	rs200135117	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:6873621C>T	ENST00000327857.2	-	3	267	c.176G>A	c.(175-177)gGc>gAc	p.G59D	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1	P59666	DEF3_HUMAN	defensin, alpha 3, neutrophil-specific	59					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular estrogen receptor signaling pathway (GO:0030520)|killing of cells of other organism (GO:0031640)	azurophil granule lumen (GO:0035578)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		TTTCCTTGAGCCTGGGACAGG	0.498													.|||	4	0.000798722	0.0	0.0	5008	,	,		21717	0.0		0.004	False		,,,				2504	0.0					ENST00000327857.2																			0				endometrium(1)|prostate(2)	3						c.e3-1		defensin, alpha 3, neutrophil-specific		C	ASP/GLY	0,3802		0,0,1901	108.0	80.0	89.0		176	-0.9	0.0	8		89	9,8169		3,3,4083	no	missense-near-splice	DEFA3	NM_005217.3	94	3,3,5984	TT,TC,CC		0.1101,0.0,0.0751	probably-damaging	59/95	6873621	9,11971	1901	4089	5990	SO:0001630	splice_region_variant	1668							g.chr8:6873621C>T	M23281	CCDS5962.1	8p23.1	2009-08-05			ENSG00000239839	ENSG00000239839		"""Defensins, alpha"""	2762	protein-coding gene	gene with protein product		604522		DEF3		8477861, 17214878, 15944200	Standard	NM_005217		Approved	HNP-3		P59666	OTTHUMG00000090381	ENST00000327857.2:c.176-1G>A	8.37:g.6873621C>T						DEFA1B_ENST00000535841.1_Intron	p.G59_splice	NM_005217.3	NP_005208.1				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)	3	267	-								P11479|Q14125	Splice_Site	SNP	ENST00000327857.2	37	c.175_splice	CCDS5962.1	.	.	.	.	.	.	.	.	.	.	.	9.986	1.229546	0.22542	0.0	0.001101	ENSG00000239839	ENST00000327857	T	0.22134	1.97	1.19	-0.857	0.10693	.	.	.	.	.	T	0.32526	0.0832	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.14420	-1.0473	8	0.42905	T	0.14	.	3.9136	0.09213	0.0:0.5059:0.0:0.4941	.	59	P59666	DEF3_HUMAN	D	59	ENSP00000328359:G59D	ENSP00000328359:G59D	G	-	2	0	DEFA3	6861031	0.571000	0.26659	0.002000	0.10522	0.134000	0.20937	1.306000	0.33505	-0.318000	0.08665	0.281000	0.19383	GGC		0.498	DEFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206753.2	NM_005217	Missense_Mutation	33	86	0	0	0	1	0	33	86				
TCOF1	6949	broad.mit.edu	37	5	149755735	149755735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149755735G>A	ENST00000504761.2	+	13	1984	c.1984G>A	c.(1984-1986)Ggc>Agc	p.G662S	TCOF1_ENST00000439160.2_Missense_Mutation_p.G662S|TCOF1_ENST00000451292.1_Missense_Mutation_p.G662S|TCOF1_ENST00000445265.2_Missense_Mutation_p.G585S|TCOF1_ENST00000394269.3_Missense_Mutation_p.G662S|TCOF1_ENST00000323668.7_Missense_Mutation_p.G585S|TCOF1_ENST00000513346.1_Missense_Mutation_p.G662S|TCOF1_ENST00000377797.3_Missense_Mutation_p.G662S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	662					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGCGAGTGGGCACCCAAGC	0.592																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1984-1986)Ggc>Agc		Treacher Collins-Franceschetti syndrome 1							114.0	129.0	124.0					5																	149755735		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755735G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1984G>A	5.37:g.149755735G>A	ENSP00000421655:p.Gly662Ser					TCOF1_ENST00000394269.3_Missense_Mutation_p.G662S|TCOF1_ENST00000323668.7_Missense_Mutation_p.G585S|TCOF1_ENST00000439160.2_Missense_Mutation_p.G662S|TCOF1_ENST00000504761.2_Missense_Mutation_p.G662S|TCOF1_ENST00000513346.1_Missense_Mutation_p.G662S|TCOF1_ENST00000445265.2_Missense_Mutation_p.G585S|TCOF1_ENST00000377797.3_Missense_Mutation_p.G662S	p.G662S			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2092	+		all_hematologic(541;0.224)	662					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.1984G>A	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871475	0.33069	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.79	-0.976	0.10286	Treacher Collins syndrome, treacle (1);	0.168005	0.28821	N	0.014039	T	0.55337	0.1914	L	0.35288	1.05	0.09310	N	1	P;B;B;B;D;B;B	0.71674	0.606;0.157;0.157;0.157;0.998;0.157;0.157	B;B;B;B;D;B;B	0.69824	0.212;0.05;0.05;0.05;0.966;0.05;0.05	T	0.53308	-0.8457	10	0.09084	T	0.74	-6.5249	3.2147	0.06695	0.4063:0.0:0.3679:0.2258	.	171;662;585;662;662;585;662	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	S	662;662;585;585;662;662;662;662;662	ENSP00000400939:G662S;ENSP00000367028:G662S;ENSP00000409944:G585S;ENSP00000325223:G585S;ENSP00000406888:G662S;ENSP00000377811:G662S;ENSP00000390717:G662S;ENSP00000421655:G662S;ENSP00000427484:G662S	ENSP00000325223:G585S	G	+	1	0	TCOF1	149735928	0.975000	0.34042	0.001000	0.08648	0.008000	0.06430	1.287000	0.33284	0.022000	0.15160	0.561000	0.74099	GGC		0.592	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		5	179	0	0	0	1	0	5	179				
MTG2	26164	broad.mit.edu	37	20	60775789	60775789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:60775789G>A	ENST00000370823.3	+	7	895	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	MTG2_ENST00000436421.2_Missense_Mutation_p.G135R|MTG2_ENST00000536470.1_Missense_Mutation_p.G65R	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	293	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										CAGGGGTCTGGGGTCCGCCTT	0.592																																						ENST00000370823.3																			0											c.(877-879)Ggg>Agg		mitochondrial ribosome-associated GTPase 2							90.0	98.0	95.0					20																	60775789		2203	4300	6503	SO:0001583	missense	26164							g.chr20:60775789G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.877G>A	20.37:g.60775789G>A	ENSP00000359859:p.Gly293Arg					MTG2_ENST00000536470.1_Missense_Mutation_p.G65R|MTG2_ENST00000436421.2_Missense_Mutation_p.G135R	p.G293R	NM_015666.3	NP_056481.1					7	895	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.877G>A	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137729	0.94517	.	.	ENSG00000101181	ENST00000536470;ENST00000436421;ENST00000370823	T;T;T	0.21734	1.99;1.99;1.99	5.67	5.67	0.87782	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79577	-0.1746	10	0.87932	D	0	-46.0452	19.7782	0.96405	0.0:0.0:1.0:0.0	.	135;293	E7EU10;Q9H4K7	.;GTPB5_HUMAN	R	65;135;293	ENSP00000445056:G65R;ENSP00000392267:G135R;ENSP00000359859:G293R	ENSP00000359859:G293R	G	+	1	0	GTPBP5	60209184	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	9.020000	0.93667	2.667000	0.90743	0.561000	0.74099	GGG		0.592	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		31	171	0	0	0	1	0	31	171				
RPL7	6129	broad.mit.edu	37	8	74204586	74204586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:74204586C>T	ENST00000352983.2	-	3	463	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396467.1_Missense_Mutation_p.E20K|RPL7_ENST00000396465.1_Missense_Mutation_p.E20K|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_Missense_Mutation_p.E20K			P18124	RL7_HUMAN	ribosomal protein L7	60					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			TGCCTATATTCCTTGTGATAG	0.388																																						ENST00000396467.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(58-60)Gaa>Aaa		ribosomal protein L7							53.0	57.0	56.0					8																	74204586		2199	4294	6493	SO:0001583	missense	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74204586C>T	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.178G>A	8.37:g.74204586C>T	ENSP00000339795:p.Glu60Lys					RPL7_ENST00000352983.2_Missense_Mutation_p.E60K|RPL7_ENST00000396466.1_Missense_Mutation_p.E20K|RPL7_ENST00000396465.1_Missense_Mutation_p.E20K	p.E20K	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		3	196	-	Breast(64;0.0954)		60			4 X 12 AA tandem repeats.		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	c.58G>A	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359722	0.95854	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465;ENST00000435330;ENST00000431653	.	.	.	4.5	4.5	0.54988	Ribosomal protein L30, N-terminal (1);	0.000000	0.64402	U	0.000001	T	0.71921	0.3397	M	0.87758	2.905	0.80722	D	1	P	0.41947	0.766	B	0.43360	0.417	T	0.79317	-0.1853	9	0.59425	D	0.04	.	17.4563	0.87608	0.0:1.0:0.0:0.0	.	60	P18124	RL7_HUMAN	K	20;60;20;20;20;20	.	ENSP00000339795:E60K	E	-	1	0	RPL7	74367140	1.000000	0.71417	0.977000	0.42913	0.867000	0.49689	7.206000	0.77891	2.332000	0.79248	0.586000	0.80456	GAA		0.388	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		25	34	0	0	0	1	0	25	34				
PTCD1	26024	broad.mit.edu	37	7	99032698	99032698	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99032698G>A	ENST00000292478.4	-	2	418	c.168C>T	c.(166-168)ggC>ggT	p.G56G	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.G105G|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000485746.1_5'Flank|PTCD1_ENST00000555673.1_Silent_p.G105G	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	56					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			GACGCTCCTGGCCGAGGGGCA	0.657																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(166-168)ggC>ggT		pentatricopeptide repeat domain 1							27.0	28.0	28.0					7																	99032698		2203	4300	6503	SO:0001819	synonymous_variant	26024							g.chr7:99032698G>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.168C>T	7.37:g.99032698G>A						PTCD1_ENST00000555673.1_Silent_p.G105G|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.G105G	p.G56G	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	418	-	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)							Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	37	c.168C>T	CCDS34691.1																																																																																				0.657	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		15	47	0	0	0	1	0	15	47				
LIF	3976	broad.mit.edu	37	22	30639648	30639648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:30639648C>T	ENST00000249075.3	-	3	756	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	LIF_ENST00000403987.3_3'UTR|RP1-102K2.8_ENST00000593843.1_RNA|RP1-102K2.8_ENST00000608354.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	201					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			TGCTAGAAGGCCTGGGCCAAC	0.592																																						ENST00000249075.3																			0				breast(1)|lung(3)|skin(3)	7						c.(601-603)Gcc>Acc		leukemia inhibitory factor							120.0	112.0	115.0					22																	30639648		2203	4300	6503	SO:0001583	missense	3976				immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding	g.chr22:30639648C>T		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.601G>A	22.37:g.30639648C>T	ENSP00000249075:p.Ala201Thr					LIF_ENST00000403987.3_3'UTR	p.A201T	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	Epithelial(10;0.171)		3	756	-			201					B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	37	c.601G>A	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903226	0.52333	.	.	ENSG00000128342	ENST00000249075	T	0.77229	-1.08	4.99	4.99	0.66335	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.275088	0.30356	N	0.009810	T	0.74898	0.3777	M	0.63428	1.95	0.80722	D	1	B	0.33345	0.409	B	0.29862	0.108	T	0.77998	-0.2376	10	0.72032	D	0.01	-17.5389	15.4378	0.75160	0.0:1.0:0.0:0.0	.	201	P15018	LIF_HUMAN	T	201	ENSP00000249075:A201T	ENSP00000249075:A201T	A	-	1	0	LIF	28969648	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	2.018000	0.40991	2.294000	0.77228	0.561000	0.74099	GCC		0.592	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		6	106	0	0	0	1	0	6	106				
ABCF1	23	broad.mit.edu	37	6	30545980	30545980	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30545980G>A	ENST00000326195.8	+	4	455		c.e4+1		ABCF1_ENST00000376545.3_Splice_Site|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1						inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GAGGATGAAGGTAAATGACCT	0.502																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.e4+1		ATP-binding cassette, sub-family F (GCN20), member 1							81.0	82.0	82.0					6																	30545980		2203	4300	6503	SO:0001630	splice_region_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30545980G>A	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.343+1G>A	6.37:g.30545980G>A						ABCF1_ENST00000376545.3_Splice_Site|ABCF1_ENST00000396515.4_Intron		NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			4	455	+								A2BF75|O14897|Q69YP6	Splice_Site	SNP	ENST00000326195.8	37		CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684839	0.29872	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2997	0.82804	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCF1	30653959	1.000000	0.71417	0.959000	0.39883	0.254000	0.26022	3.631000	0.54280	2.660000	0.90430	0.563000	0.77884	.		0.502	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		Intron	12	59	0	0	0	1	0	12	59				
USP9X	8239	broad.mit.edu	37	X	41055548	41055548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:41055548C>T	ENST00000324545.8	+	27	4655	c.4022C>T	c.(4021-4023)aCc>aTc	p.T1341I	USP9X_ENST00000378308.2_Missense_Mutation_p.T1341I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1341					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTAATGTGCACCAGATGTTGC	0.348																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4021-4023)aCc>aTc		ubiquitin specific peptidase 9, X-linked							173.0	165.0	168.0					X																	41055548		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41055548C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4022C>T	X.37:g.41055548C>T	ENSP00000316357:p.Thr1341Ile					USP9X_ENST00000378308.2_Missense_Mutation_p.T1341I	p.T1341I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			27	4655	+			1341					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4022C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701338	0.88924	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.66280	-0.2;-0.2	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.70275	2.135	0.80722	D	1	P;P	0.51653	0.947;0.89	P;P	0.55577	0.779;0.496	T	0.69375	-0.5162	10	0.18276	T	0.48	.	18.097	0.89493	0.0:1.0:0.0:0.0	.	1341;1341	Q93008-1;Q93008	.;USP9X_HUMAN	I	1341	ENSP00000367558:T1341I;ENSP00000316357:T1341I	ENSP00000316357:T1341I	T	+	2	0	USP9X	40940492	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.421000	0.80204	2.297000	0.77311	0.529000	0.55759	ACC		0.348	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		6	130	0	0	0	1	0	6	130				
MAP3K6	9064	broad.mit.edu	37	1	27686441	27686441	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27686441C>T	ENST00000493901.1	-	18	2466	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	MAP3K6_ENST00000357582.2_Missense_Mutation_p.D743N|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D735N	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	743	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCGTTGTCCTTCAGGGGT	0.582																																						ENST00000493901.1																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(2227-2229)Gac>Aac		mitogen-activated protein kinase kinase kinase 6							132.0	124.0	127.0					1																	27686441		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27686441C>T	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2227G>A	1.37:g.27686441C>T	ENSP00000419591:p.Asp743Asn					MAP3K6_ENST00000357582.2_Missense_Mutation_p.D743N|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D735N	p.D743N	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	18	2466	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	743			Protein kinase.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.2227G>A	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512953	0.85389	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.24151	1.87;1.87;1.87	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.32704	0.0838	L	0.53729	1.69	0.49051	D	0.999746	B;B	0.27117	0.139;0.168	B;B	0.35413	0.128;0.202	T	0.11372	-1.0590	9	0.51188	T	0.08	.	17.2811	0.87128	0.0:1.0:0.0:0.0	.	735;743	O95382-3;O95382	.;M3K6_HUMAN	N	735;743;466;743	ENSP00000363152:D735N;ENSP00000419591:D743N;ENSP00000350195:D743N	ENSP00000350195:D743N	D	-	1	0	MAP3K6	27559028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.916000	0.39986	2.610000	0.88304	0.561000	0.74099	GAC		0.582	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		15	49	0	0	0	1	0	15	49				
AC009120.6	0	broad.mit.edu	37	16	74366554	74366554	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:74366554C>T	ENST00000565313.1	-	0	0				AC009120.6_ENST00000561921.1_RNA																							ACGCTCATCTCCTGCAGGGAC	0.562																																						ENST00000561921.1																			0																																																			0							g.chr16:74366554C>T																													16.37:g.74366554C>T														0	455	-									RNA	SNP	ENST00000565313.1	37																																																																																						0.562	AC009120.6-003	KNOWN	basic	antisense	antisense	OTTHUMT00000434677.1			3	23	0	0	0	1	0	3	23				
SMARCB1	6598	broad.mit.edu	37	22	24167498	24167498	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:24167498C>T	ENST00000263121.7	+	7	1078	c.882C>T	c.(880-882)gcC>gcT	p.A294A	SMARCB1_ENST00000407422.3_Silent_p.A285A|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Silent_p.A303A|SMARCB1_ENST00000407082.3_Silent_p.A248A	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	294	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(6)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGAAGTTTGCCCTGAAGCTGT	0.557			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		7	Unknown(6)|Deletion - In frame(1)	p.?(6)|p.L266_*386del(1)	central_nervous_system(6)|soft_tissue(1)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(907-909)gcC>gcT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							116.0	90.0	99.0					22																	24167498		2203	4300	6503	SO:0001819	synonymous_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24167498C>T	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.882C>T	22.37:g.24167498C>T						SMARCB1_ENST00000407422.3_Silent_p.A285A|SMARCB1_ENST00000407082.3_Silent_p.A248A|SMARCB1_ENST00000263121.7_Silent_p.A294A|SMARCB1_ENST00000477836.1_3'UTR	p.A303A			Q12824	SNF5_HUMAN			7	1116	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	294			2 X approximate tandem repeats.		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	c.909C>T	CCDS13817.1																																																																																				0.557	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		15	63	0	0	0	1	0	15	63				
KCNJ6	3763	broad.mit.edu	37	21	39086526	39086526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:39086526C>T	ENST00000609713.1	-	3	1523	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	KCNJ6_ENST00000288309.6_Missense_Mutation_p.V312M|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	312					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTGGCTTCCACCATTCCTTCT	0.438																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(934-936)Gtg>Atg		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						102.0	107.0	105.0					21																	39086526		1968	4192	6160	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086526C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.934G>A	21.37:g.39086526C>T	ENSP00000477437:p.Val312Met					KCNJ6_ENST00000288309.6_Missense_Mutation_p.V312M	p.V312M	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	1523	-			312					Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.934G>A	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366494	0.82463	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.95949	-3.86;-3.86	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98450	1.0591	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	312	P48051	IRK6_HUMAN	M	312	ENSP00000383330:V312M;ENSP00000288309:V312M	ENSP00000288309:V312M	V	-	1	0	KCNJ6	38008396	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	GTG		0.438	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		11	95	0	0	0	1	0	11	95				
SPINT2	10653	broad.mit.edu	37	19	38774433	38774433	+	Silent	SNP	C	C	T	rs148132203		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:38774433C>T	ENST00000301244.7	+	2	708	c.273C>T	c.(271-273)gtC>gtT	p.V91V	SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_Silent_p.V41V	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	91					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGCCACTGTCACAGGTGAGA	0.453																																						ENST00000301244.7																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(271-273)gtC>gtT		serine peptidase inhibitor, Kunitz type, 2							95.0	74.0	81.0					19																	38774433		2203	4300	6503	SO:0001819	synonymous_variant	10653				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity	g.chr19:38774433C>T	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.273C>T	19.37:g.38774433C>T						SPINT2_ENST00000587090.1_Silent_p.V41V|SPINT2_ENST00000454580.3_Intron	p.V91V	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	708	+	all_cancers(60;6.83e-07)		91					A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Silent	SNP	ENST00000301244.7	37	c.273C>T	CCDS12510.1																																																																																				0.453	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			25	35	0	0	0	1	0	25	35				
LRRC4C	57689	broad.mit.edu	37	11	40136740	40136740	+	Missense_Mutation	SNP	C	C	T	rs375802247		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:40136740C>T	ENST00000278198.2	-	2	3066	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	LRRC4C_ENST00000528697.1_Missense_Mutation_p.G368D|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G368D|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G368D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	368	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				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)				AGCTGCCATGCCTTCAGTGAC	0.502																																						ENST00000278198.2																			0				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						c.(1102-1104)gGc>gAc		leucine rich repeat containing 4C							92.0	82.0	85.0					11																	40136740		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136740C>T	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.1103G>A	11.37:g.40136740C>T	ENSP00000278198:p.Gly368Asp					LRRC4C_ENST00000527150.1_Missense_Mutation_p.G368D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.G368D|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G368D	p.G368D			Q9HCJ2	LRC4C_HUMAN			2	3066	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	368			Ig-like C2-type.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1103G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473258	0.63737	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	M	0.87097	2.86	0.80722	D	1	P	0.51057	0.941	P	0.48334	0.574	D	0.88927	0.3370	10	0.59425	D	0.04	.	18.9283	0.92553	0.0:1.0:0.0:0.0	.	368	Q9HCJ2	LRC4C_HUMAN	D	368	ENSP00000278198:G368D;ENSP00000436976:G368D;ENSP00000437132:G368D;ENSP00000434761:G368D	ENSP00000278198:G368D	G	-	2	0	LRRC4C	40093316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.754000	0.85163	2.722000	0.93159	0.650000	0.86243	GGC		0.502	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		6	155	0	0	0	1	0	6	155				
MYLK	4638	broad.mit.edu	37	3	123419213	123419213	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:123419213G>A	ENST00000475616.1	-	15	3101	c.3102C>T	c.(3100-3102)acC>acT	p.T1034T	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Silent_p.T1034T|MYLK_ENST00000360772.3_Silent_p.T1034T|MYLK_ENST00000360304.3_Silent_p.T1034T|MYLK_ENST00000346322.5_Silent_p.T965T			Q15746	MYLK_HUMAN	myosin light chain kinase	1034	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGGCTTCAGGGTCTCAGCAG	0.577																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3100-3102)acC>acT		myosin light chain kinase							143.0	148.0	146.0					3																	123419213		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419213G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3102C>T	3.37:g.123419213G>A						MYLK_ENST00000359169.1_Silent_p.T1034T|MYLK_ENST00000475616.1_Silent_p.T1034T|MYLK_ENST00000360304.3_Silent_p.T1034T|MYLK_ENST00000346322.5_Silent_p.T965T	p.T1034T			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3480	-		Lung NSC(201;0.0496)	1034			6 X 12 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3102C>T	CCDS46896.1																																																																																				0.577	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		13	166	0	0	0	1	0	13	166				
AGO2	27161	broad.mit.edu	37	8	141554349	141554349	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:141554349G>A	ENST00000220592.5	-	14	1914	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	AGO2_ENST00000519980.1_Missense_Mutation_p.P601L	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	601	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|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)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CCCGGCGGGGGGGTGAGTGAC	0.652																																						ENST00000220592.5																			0											c.(1801-1803)cCc>cTc		argonaute RISC catalytic component 2							94.0	102.0	99.0					8																	141554349		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141554349G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1802C>T	8.37:g.141554349G>A	ENSP00000220592:p.Pro601Leu					AGO2_ENST00000519980.1_Missense_Mutation_p.P601L	p.P601L	NM_012154.3	NP_036286.2					14	1914	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1802C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236496	0.95240	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.32023	1.47;1.47	5.35	5.35	0.76521	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	H	0.96777	3.88	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.77004	0.982;0.989	T	0.81675	-0.0825	10	0.87932	D	0	-0.8856	19.4318	0.94772	0.0:0.0:1.0:0.0	.	601;601	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	L	601	ENSP00000220592:P601L;ENSP00000430176:P601L	ENSP00000220592:P601L	P	-	2	0	EIF2C2	141623531	1.000000	0.71417	0.958000	0.39756	0.842000	0.47809	9.744000	0.98853	2.664000	0.90586	0.650000	0.86243	CCC		0.652	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			50	126	0	0	0	1	0	50	126				
AHNAK	79026	broad.mit.edu	37	11	62285093	62285093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62285093C>T	ENST00000378024.4	-	5	17070	c.16796G>A	c.(16795-16797)gGa>gAa	p.G5599E	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5599	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GACTTGGGGTCCCTTCCACTC	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16795-16797)gGa>gAa		AHNAK nucleoprotein							126.0	142.0	136.0					11																	62285093		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285093C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16796G>A	11.37:g.62285093C>T	ENSP00000367263:p.Gly5599Glu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G5599E	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17070	-		Melanoma(852;0.155)	5599			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16796G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021367	0.35701	.	.	ENSG00000124942	ENST00000378024	T	0.01379	4.96	4.74	1.74	0.24563	.	0.186029	0.25238	N	0.032106	T	0.04003	0.0112	M	0.73962	2.25	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.25502	-1.0130	10	0.02654	T	1	-1.357	3.4317	0.07430	0.2543:0.3351:0.3284:0.0822	.	5599	Q09666	AHNK_HUMAN	E	5599	ENSP00000367263:G5599E	ENSP00000367263:G5599E	G	-	2	0	AHNAK	62041669	0.000000	0.05858	0.896000	0.35187	0.718000	0.41266	-0.185000	0.09684	0.061000	0.16311	-0.203000	0.12734	GGA		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		59	108	0	0	0	1	0	59	108				
RABGAP1L	9910	broad.mit.edu	37	1	174668725	174668725	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:174668725C>T	ENST00000251507.4	+	16	2136	c.1962C>T	c.(1960-1962)gaC>gaT	p.D654D	RABGAP1L_ENST00000347255.2_5'Flank|RABGAP1L_ENST00000325589.5_5'Flank|RABGAP1L_ENST00000367687.1_5'Flank	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTTTGAGAGACCTCTACAGAA	0.338																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(1960-1962)gaC>gaT		RAB GTPase activating protein 1-like							99.0	103.0	102.0					1																	174668725		2203	4300	6503	SO:0001819	synonymous_variant	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174668725C>T	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.1962C>T	1.37:g.174668725C>T							p.D654D	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			16	2136	+			654			Rab-GAP TBC.		B7ZAA4	Silent	SNP	ENST00000251507.4	37	c.1962C>T	CCDS1314.1																																																																																				0.338	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		5	77	0	0	0	1	0	5	77				
AFF1	4299	broad.mit.edu	37	4	88055716	88055716	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:88055716G>A	ENST00000307808.6	+	19	3801	c.3381G>A	c.(3379-3381)ggG>ggA	p.G1127G	AFF1_ENST00000395146.4_Silent_p.G1135G|AFF1_ENST00000544085.1_Silent_p.G766G	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1127					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GGAGCAGTGGGGTGGCTGCCA	0.562																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(3379-3381)ggG>ggA		AF4/FMR2 family, member 1							168.0	167.0	167.0					4																	88055716		2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88055716G>A	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.3381G>A	4.37:g.88055716G>A						AFF1_ENST00000395146.4_Silent_p.G1135G|AFF1_ENST00000544085.1_Silent_p.G766G	p.G1127G	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	19	3801	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	1127					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.3381G>A	CCDS3616.1																																																																																				0.562	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		14	245	0	0	0	1	0	14	245				
C9orf142	286257	broad.mit.edu	37	9	139887843	139887843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139887843G>A	ENST00000371620.3	+	5	496	c.470G>A	c.(469-471)gGg>gAg	p.G157E	C9orf142_ENST00000493968.1_3'UTR|CLIC3_ENST00000480181.1_5'Flank	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	157						extracellular vesicular exosome (GO:0070062)						all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGCCTGCAGGGCCTCAGCTC	0.597																																						ENST00000371620.3																			0											c.(469-471)gGg>gAg		chromosome 9 open reading frame 142							25.0	27.0	26.0					9																	139887843		2200	4295	6495	SO:0001583	missense	286257							g.chr9:139887843G>A	BC002613	CCDS7020.1	9q34.3	2008-02-05			ENSG00000148362	ENSG00000148362			27849	protein-coding gene	gene with protein product							Standard	NM_183241		Approved		uc004cki.3	Q9BUH6	OTTHUMG00000020971	ENST00000371620.3:c.470G>A	9.37:g.139887843G>A	ENSP00000360682:p.Gly157Glu					C9orf142_ENST00000493968.1_3'UTR	p.G157E	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	5	496	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	157					Q8IY19	Missense_Mutation	SNP	ENST00000371620.3	37	c.470G>A	CCDS7020.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076621	0.55753	.	.	ENSG00000148362	ENST00000371620	.	.	.	4.55	1.61	0.23674	.	0.000000	0.56097	D	0.000032	T	0.31796	0.0808	L	0.56769	1.78	0.09310	N	1	B	0.17465	0.022	B	0.15484	0.013	T	0.31971	-0.9924	9	0.62326	D	0.03	-13.3354	1.8881	0.03242	0.1846:0.1579:0.4951:0.1624	.	157	Q9BUH6	CI142_HUMAN	E	157	.	ENSP00000360682:G157E	G	+	2	0	C9orf142	139007664	0.002000	0.14202	0.007000	0.13788	0.313000	0.28021	0.691000	0.25467	0.527000	0.28560	-0.440000	0.05779	GGG		0.597	C9orf142-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055255.1	NM_183241		9	12	0	0	0	1	0	9	12				
RAPGEF4	11069	broad.mit.edu	37	2	173853538	173853538	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:173853538G>A	ENST00000397081.3	+	14	1488	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D296N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D296N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D278N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D305N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.D448N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D449N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D229N|RAPGEF4_ENST00000473043.1_3'UTR	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	449					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTTAAGAGTAGACAAGGAGGA	0.443																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1342-1344)Gac>Aac		Rap guanine nucleotide exchange factor (GEF) 4							68.0	68.0	68.0					2																	173853538		1957	4153	6110	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173853538G>A	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1345G>A	2.37:g.173853538G>A	ENSP00000380271:p.Asp449Asn					RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D296N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D449N|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.D449N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D305N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D296N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D278N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D229N|RAPGEF4_ENST00000473043.1_3'UTR	p.D448N			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		14	1529	+			449					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1342G>A	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	36	5.757424	0.96898	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.45	5.45	0.79879	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.92509	0.7621	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.996;0.995	D	0.92843	0.6290	10	0.87932	D	0	.	19.6541	0.95830	0.0:0.0:1.0:0.0	.	276;278;305;449	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2	.;.;.;RPGF4_HUMAN	N	448;449;449;305;278;296;296;276;229	ENSP00000264111:D448N;ENSP00000380271:D449N;ENSP00000387104:D449N;ENSP00000380276:D305N;ENSP00000440135:D278N;ENSP00000440250:D296N;ENSP00000437384:D296N;ENSP00000438011:D229N	ENSP00000264111:D448N	D	+	1	0	RAPGEF4	173561784	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.416000	0.97383	2.705000	0.92388	0.655000	0.94253	GAC		0.443	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		29	48	0	0	0	1	0	29	48				
BRPF3	27154	broad.mit.edu	37	6	36178246	36178246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36178246G>A	ENST00000357641.6	+	6	2373	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	BRPF3_ENST00000443324.2_Missense_Mutation_p.G707D|BRPF3_ENST00000534694.1_Missense_Mutation_p.G707D|BRPF3_ENST00000534400.1_Missense_Mutation_p.G707D|BRPF3_ENST00000339717.7_Missense_Mutation_p.G707D|BRPF3_ENST00000543502.1_Missense_Mutation_p.G707D	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	707					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCCGAGAGGGGCACTCACCTG	0.647																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(2119-2121)gGc>gAc		bromodomain and PHD finger containing, 3							37.0	43.0	41.0					6																	36178246		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36178246G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2120G>A	6.37:g.36178246G>A	ENSP00000350267:p.Gly707Asp					BRPF3_ENST00000339717.7_Missense_Mutation_p.G707D|BRPF3_ENST00000534694.1_Missense_Mutation_p.G707D|BRPF3_ENST00000534400.1_Missense_Mutation_p.G707D|BRPF3_ENST00000543502.1_Missense_Mutation_p.G707D|BRPF3_ENST00000443324.2_Missense_Mutation_p.G707D	p.G707D	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			6	2373	+			707					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.2120G>A	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404327	0.62288	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000394572	T;T;T;T;T;T	0.23147	2.18;2.37;2.34;2.37;2.34;1.92	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70716	0.927;0.949;0.97	T	0.51655	-0.8678	10	0.87932	D	0	.	19.5263	0.95208	0.0:0.0:1.0:0.0	.	707;707;707	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	D	707;707;707;707;707;707;121	ENSP00000350267:G707D;ENSP00000345419:G707D;ENSP00000434501:G707D;ENSP00000445352:G707D;ENSP00000387368:G707D;ENSP00000436504:G707D	ENSP00000345419:G707D	G	+	2	0	BRPF3	36286224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.802000	0.99131	2.608000	0.88229	0.655000	0.94253	GGC		0.647	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		23	36	0	0	0	1	0	23	36				
RNF130	55819	broad.mit.edu	37	5	179390524	179390524	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:179390524G>A	ENST00000521389.1	-	8	1606	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	RNF130_ENST00000261947.4_Intron|CTC-563A5.2_ENST00000510240.1_RNA|RNF130_ENST00000522208.2_Intron	NM_018434.4	NP_060904.2			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGTGTGAGGGCACTGAGGA	0.438																																					GBM(24;432 554 38471 39699 51728)	ENST00000521389.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(1189-1191)gcC>gcT		ring finger protein 130							138.0	113.0	121.0					5																	179390524		2203	4300	6503	SO:0001819	synonymous_variant	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179390524G>A	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000521389.1:c.1191C>T	5.37:g.179390524G>A						RNF130_ENST00000261947.4_Intron|RNF130_ENST00000522208.2_Intron	p.A397A	NM_018434.4	NP_060904.2	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1606	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	397						Silent	SNP	ENST00000521389.1	37	c.1191C>T	CCDS4451.1																																																																																				0.438	RNF130-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253499.3	NM_018434		4	10	0	0	0	1	0	4	10				
ISY1	57461	broad.mit.edu	37	3	128875727	128875727	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:128875727G>A	ENST00000393295.3	-	4	432	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	ISY1_ENST00000273541.8_Silent_p.L39L|ISY1-RAB43_ENST00000418265.1_Silent_p.L39L|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393292.3_Silent_p.L39L	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	39					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						GCTTTAGGCAGTTCAGTACAT	0.358																																						ENST00000418265.1																			0											c.(115-117)Ctg>Ttg									98.0	93.0	95.0					3																	128875727		1875	4100	5975	SO:0001819	synonymous_variant	0					catalytic step 2 spliceosome		g.chr3:128875727G>A		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.115C>T	3.37:g.128875727G>A						ISY1_ENST00000393295.3_Silent_p.L39L|ISY1_ENST00000393292.3_Silent_p.L39L|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Silent_p.L39L	p.L39L	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN			4	175	-			39					Q96IL2|Q9BT05	Silent	SNP	ENST00000393295.3	37	c.115C>T	CCDS43149.1																																																																																				0.358	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		19	33	0	0	0	1	0	19	33				
SAMD9	54809	broad.mit.edu	37	7	92734050	92734050	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:92734050G>A	ENST00000379958.2	-	3	1630	c.1361C>T	c.(1360-1362)gCt>gTt	p.A454V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	454						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCTTTGTAAGCTTTGACCAC	0.373																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1360-1362)gCt>gTt		sterile alpha motif domain containing 9							54.0	51.0	52.0					7																	92734050		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734050G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1361C>T	7.37:g.92734050G>A	ENSP00000369292:p.Ala454Val						p.A454V	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1630	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		454					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1361C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	1.121	-0.655310	0.03480	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.19105	2.17;2.17	4.38	0.351	0.16042	.	0.573661	0.15927	N	0.237860	T	0.19525	0.0469	M	0.68317	2.08	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22591	-1.0212	10	0.62326	D	0.03	0.5043	4.9827	0.14175	0.1508:0.1188:0.6074:0.123	.	454	Q5K651	SAMD9_HUMAN	V	454	ENSP00000369292:A454V;ENSP00000414529:A454V	ENSP00000369292:A454V	A	-	2	0	SAMD9	92571986	0.008000	0.16893	0.175000	0.22980	0.109000	0.19521	0.567000	0.23608	-0.279000	0.09167	-1.195000	0.01675	GCT		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		31	89	0	0	0	1	0	31	89				
DLEC1	9940	broad.mit.edu	37	3	38080761	38080761	+	Silent	SNP	G	G	A	rs375716356		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:38080761G>A	ENST00000308059.6	+	1	66	c.45G>A	c.(43-45)cgG>cgA	p.R15R	DLEC1_ENST00000346219.3_Silent_p.R15R|DLEC1_ENST00000452631.2_Silent_p.R15R					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TAGCGTCCCGGACCAACGAGT	0.647																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(43-45)cgG>cgA		deleted in lung and esophageal cancer 1		G	,	0,4184		0,0,2092	45.0	54.0	51.0		45,45	2.0	0.0	3		51	1,8431		0,1,4215	no	coding-synonymous,coding-synonymous	DLEC1	NM_007335.2,NM_007337.2	,	0,1,6307	AA,AG,GG		0.0119,0.0,0.0079	,	15/1756,15/1779	38080761	1,12615	2092	4216	6308	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38080761G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.45G>A	3.37:g.38080761G>A						DLEC1_ENST00000452631.2_Silent_p.R15R|DLEC1_ENST00000346219.3_Silent_p.R15R	p.R15R			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	1	66	+			15						Silent	SNP	ENST00000308059.6	37	c.45G>A	CCDS2672.2																																																																																				0.647	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		15	29	0	0	0	1	0	15	29				
ZDHHC5	25921	broad.mit.edu	37	11	57466145	57466145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:57466145G>A	ENST00000287169.3	+	11	2599	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.G360S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	413					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCCTACCTTTGGCAAAAGTTT	0.562																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1237-1239)Ggc>Agc		zinc finger, DHHC-type containing 5							105.0	89.0	95.0					11																	57466145		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466145G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1237G>A	11.37:g.57466145G>A	ENSP00000287169:p.Gly413Ser					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.G360S	p.G413S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	2599	+			413					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1237G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322281	0.41096	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.81996	0.38;1.37;-1.56	5.28	5.28	0.74379	.	0.338190	0.30686	N	0.009095	T	0.72732	0.3497	L	0.38175	1.15	0.48135	D	0.999598	P	0.43094	0.799	B	0.36092	0.217	T	0.71669	-0.4523	10	0.08381	T	0.77	-21.6242	16.8605	0.86017	0.0:0.0:1.0:0.0	.	413	Q9C0B5	ZDHC5_HUMAN	S	360;413;247	ENSP00000432202:G360S;ENSP00000287169:G413S;ENSP00000435722:G247S	ENSP00000287169:G413S	G	+	1	0	ZDHHC5	57222721	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.365000	0.59486	2.758000	0.94735	0.563000	0.77884	GGC		0.562	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		5	73	0	0	0	1	0	5	73				
FCGR3A	2214	broad.mit.edu	37	1	161600157	161600157	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161600157C>T	ENST00000540048.1	-	2	94		c.e2+1		FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000294800.3_Splice_Site|FCGR3B_ENST00000531221.1_Splice_Site|FCGR3B_ENST00000367964.2_Splice_Site|FCGR2B_ENST00000428605.2_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCTGACTCACCAGTCCGCAT	0.428																																						ENST00000294800.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18						c.e2+1		Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						35.0	43.0	40.0					1																	161600157		2189	4298	6487	SO:0001630	splice_region_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161600157C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+1G>A	1.37:g.161600157C>T						FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000367964.2_Splice_Site|FCGR3A_ENST00000540048.1_Splice_Site|FCGR3B_ENST00000531221.1_Splice_Site|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron		NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	335	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)							A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Splice_Site	SNP	ENST00000540048.1	37			.	.	.	.	.	.	.	.	.	.	C	10.72	1.430959	0.25726	.	.	ENSG00000203747;ENSG00000162747;ENSG00000162747;ENSG00000162747;ENSG00000162747;ENSG00000162747	ENST00000540048;ENST00000367964;ENST00000294800;ENST00000531221;ENST00000421702;ENST00000534776	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1306	0.42676	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCGR3A;FCGR3B	159866781	1.000000	0.71417	0.607000	0.28956	0.108000	0.19459	1.956000	0.40382	1.455000	0.47813	0.388000	0.25769	.		0.428	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569	Intron	3	35	0	0	0	1	0	3	35				
FAM208B	54906	broad.mit.edu	37	10	5788813	5788813	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:5788813G>A	ENST00000328090.5	+	15	4054	c.3429G>A	c.(3427-3429)aaG>aaA	p.K1143K	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1143																	CATTACAGAAGGAGACGCCCC	0.453																																						ENST00000328090.5																			0											c.(3427-3429)aaG>aaA		family with sequence similarity 208, member B							124.0	123.0	123.0					10																	5788813		1925	4135	6060	SO:0001819	synonymous_variant	54906							g.chr10:5788813G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3429G>A	10.37:g.5788813G>A							p.K1143K	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	4054	+			1143					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.3429G>A	CCDS41485.1																																																																																				0.453	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		42	118	0	0	0	1	0	42	118				
TPP2	7174	broad.mit.edu	37	13	103299562	103299562	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103299562G>A	ENST00000376065.4	+	21	2532	c.2496G>A	c.(2494-2496)aaG>aaA	p.K832K	TPP2_ENST00000376052.3_Silent_p.K832K	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	832					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATAGCCCAAGAGTGGGGAAG	0.313																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(2494-2496)aaG>aaA		tripeptidyl peptidase II							58.0	59.0	59.0					13																	103299562		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103299562G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2496G>A	13.37:g.103299562G>A						TPP2_ENST00000376065.4_Silent_p.K832K	p.K832K			P29144	TPP2_HUMAN			21	2512	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		832					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2496G>A	CCDS9502.1																																																																																				0.313	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			6	38	0	0	0	1	0	6	38				
STX12	23673	broad.mit.edu	37	1	28099831	28099831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:28099831C>T	ENST00000373943.4	+	1	138	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	RP3-426I6.5_ENST00000602607.1_RNA|STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	5					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATACGGTCCCTTAGACAT	0.647																																					Ovarian(5;5 342 2097 9488 34083)	ENST00000373943.4																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8						c.(13-15)Ccc>Tcc		syntaxin 12							28.0	34.0	32.0					1																	28099831		2196	4298	6494	SO:0001583	missense	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28099831C>T	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.13C>T	1.37:g.28099831C>T	ENSP00000363054:p.Pro5Ser					STX12_ENST00000468761.1_3'UTR	p.P5S	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	1	138	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	5					B1AJQ7|O95564	Missense_Mutation	SNP	ENST00000373943.4	37	c.13C>T	CCDS310.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526911	0.44969	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	T	0.29917	1.55	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000008	T	0.42832	0.1220	L	0.36672	1.1	0.26111	N	0.980682	D	0.63880	0.993	D	0.70227	0.968	T	0.21965	-1.0230	10	0.25106	T	0.35	6.7895	14.3688	0.66826	0.0:1.0:0.0:0.0	.	5	Q86Y82	STX12_HUMAN	S	5	ENSP00000363054:P5S	ENSP00000363054:P5S	P	+	1	0	STX12	27972418	0.978000	0.34361	0.995000	0.50966	0.254000	0.26022	3.567000	0.53813	2.760000	0.94817	0.655000	0.94253	CCC		0.647	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		5	9	0	0	0	1	0	5	9				
RELN	5649	broad.mit.edu	37	7	103162564	103162564	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:103162564C>T	ENST00000428762.1	-	48	7732	c.7573G>A	c.(7573-7575)Gct>Act	p.A2525T	RELN_ENST00000424685.2_Missense_Mutation_p.A2525T|RELN_ENST00000343529.5_Missense_Mutation_p.A2525T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2525					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGATGGAGCTCGATTGAAG	0.547																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(7573-7575)Gct>Act		reelin							128.0	111.0	117.0					7																	103162564		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103162564C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7573G>A	7.37:g.103162564C>T	ENSP00000392423:p.Ala2525Thr					RELN_ENST00000343529.5_Missense_Mutation_p.A2525T|RELN_ENST00000428762.1_Missense_Mutation_p.A2525T	p.A2525T			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	48	7732	-			2525					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7573G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999516	0.54147	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24151	1.87;1.87;1.87	5.42	4.54	0.55810	Neuraminidase (1);	0.167806	0.52532	D	0.000077	T	0.30135	0.0755	M	0.64997	1.995	0.41471	D	0.988103	B;B	0.17667	0.023;0.0	B;B	0.24848	0.056;0.003	T	0.07927	-1.0747	10	0.40728	T	0.16	.	14.5581	0.68115	0.2793:0.7207:0.0:0.0	.	2525;2525	P78509-2;P78509	.;RELN_HUMAN	T	2525;2525;2525;42;2525	ENSP00000392423:A2525T;ENSP00000345694:A2525T;ENSP00000388446:A2525T	ENSP00000345694:A2525T	A	-	1	0	RELN	102949800	0.993000	0.37304	0.753000	0.31225	0.633000	0.38033	3.052000	0.49893	1.420000	0.47138	-0.261000	0.10672	GCT		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	74	0	0	0	1	0	6	74				
ZC3H18	124245	broad.mit.edu	37	16	88691074	88691074	+	Missense_Mutation	SNP	C	C	T	rs376127002		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:88691074C>T	ENST00000301011.5	+	12	2163	c.1963C>T	c.(1963-1965)Cct>Tct	p.P655S	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P679S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	655	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)		AACCACTGCTCCTGTCCCCGA	0.692																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1963-1965)Cct>Tct		zinc finger CCCH-type containing 18		C	SER/PRO	0,4396		0,0,2198	46.0	66.0	59.0		1963	5.3	0.1	16		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZC3H18	NM_144604.3	74	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	655/954	88691074	1,12995	2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88691074C>T	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.1963C>T	16.37:g.88691074C>T	ENSP00000301011:p.Pro655Ser					ZC3H18_ENST00000452588.2_Missense_Mutation_p.P679S	p.P655S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	12	2163	+			655			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1963C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	4.453	0.083955	0.08583	0.0	1.16E-4	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.38077	1.17;1.16	5.26	5.26	0.73747	.	0.258442	0.39210	N	0.001424	T	0.35128	0.0921	L	0.55481	1.735	0.18873	N	0.999982	B;B	0.26809	0.16;0.16	B;B	0.24701	0.055;0.055	T	0.35599	-0.9782	10	0.66056	D	0.02	-2.2135	12.8634	0.57926	0.0:0.7846:0.2154:0.0	.	679;655	E7ERS3;Q86VM9	.;ZCH18_HUMAN	S	655;623;679	ENSP00000301011:P655S;ENSP00000416951:P679S	ENSP00000289509:P623S	P	+	1	0	ZC3H18	87218575	0.453000	0.25721	0.087000	0.20705	0.007000	0.05969	1.583000	0.36579	2.465000	0.83290	0.655000	0.94253	CCT		0.692	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		5	21	0	0	0	1	0	5	21				
LAMB3	3914	broad.mit.edu	37	1	209796920	209796920	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:209796920C>T	ENST00000356082.4	-	16	2422	c.2288G>A	c.(2287-2289)gGc>gAc	p.G763D	LAMB3_ENST00000367030.3_Missense_Mutation_p.G763D|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000391911.1_Missense_Mutation_p.G763D	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	763	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTTGGGGCTGCCGGTGCCTCC	0.642																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2287-2289)gGc>gAc		laminin, beta 3							73.0	65.0	68.0					1																	209796920		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209796920C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2288G>A	1.37:g.209796920C>T	ENSP00000348384:p.Gly763Asp					LAMB3_ENST00000356082.4_Missense_Mutation_p.G763D|LAMB3_ENST00000367030.3_Missense_Mutation_p.G763D	p.G763D	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	15	2677	-			763			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.2288G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335038	0.24253	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.35789	1.29;1.29;1.29	5.15	3.23	0.37069	.	0.828706	0.11406	N	0.567309	T	0.33000	0.0848	L	0.56769	1.78	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.26538	-1.0100	10	0.30854	T	0.27	.	7.2915	0.26368	0.0:0.7374:0.1702:0.0924	.	763	Q13751	LAMB3_HUMAN	D	763	ENSP00000375778:G763D;ENSP00000348384:G763D;ENSP00000355997:G763D	ENSP00000348384:G763D	G	-	2	0	LAMB3	207863543	.	.	0.000000	0.03702	0.030000	0.12068	.	.	0.661000	0.30985	0.456000	0.33151	GGC		0.642	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		3	34	0	0	0	1	0	3	34				
FBLN2	2199	broad.mit.edu	37	3	13661331	13661331	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:13661331G>A	ENST00000295760.7	+	8	2224	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	FBLN2_ENST00000492059.1_Splice_Site_p.D719N|FBLN2_ENST00000404922.3_Splice_Site_p.D719N|FBLN2_ENST00000535798.1_Splice_Site_p.D745N	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	719	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GTCCTGTGAAGGTGAGTGCCT	0.582																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.e8+1		fibulin 2							74.0	75.0	75.0					3																	13661331		2099	4210	6309	SO:0001630	splice_region_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13661331G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2155+1G>A	3.37:g.13661331G>A						FBLN2_ENST00000492059.1_Splice_Site_p.D719_splice|FBLN2_ENST00000535798.1_Splice_Site_p.D745_splice|FBLN2_ENST00000295760.7_Splice_Site_p.D719_splice	p.D719_splice	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		8	2274	+			719			EGF-like 3; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Splice_Site	SNP	ENST00000295760.7	37	c.2155_splice	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385415	0.95967	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37	5.28	5.28	0.74379	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.304422	0.25154	U	0.032730	D	0.99227	0.9731	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.995;0.995;0.999	D	0.99858	1.1080	10	0.87932	D	0	.	18.5308	0.90992	0.0:0.0:1.0:0.0	.	719;719;745	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	N	745;719;719;719	ENSP00000445705:D745N;ENSP00000384169:D719N;ENSP00000295760:D719N;ENSP00000420042:D719N	ENSP00000295760:D719N	D	+	1	0	FBLN2	13636332	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.690000	0.91272	2.463000	0.83235	0.643000	0.83706	GAC		0.582	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	Missense_Mutation	10	19	0	0	0	1	0	10	19				
HOOK1	51361	broad.mit.edu	37	1	60312741	60312741	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:60312741C>T	ENST00000371208.3	+	10	1070	c.813C>T	c.(811-813)taC>taT	p.Y271Y	HOOK1_ENST00000395561.2_Silent_p.Y229Y|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	271	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AAGATGATTACCGTGTTCACT	0.333																																						ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(811-813)taC>taT		hook microtubule-tethering protein 1							97.0	99.0	98.0					1																	60312741		2203	4298	6501	SO:0001819	synonymous_variant	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60312741C>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.813C>T	1.37:g.60312741C>T						HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.Y229Y	p.Y271Y	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			10	1070	+	all_cancers(7;0.000129)		271			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	ENST00000371208.3	37	c.813C>T	CCDS612.1																																																																																				0.333	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		8	86	0	0	0	1	0	8	86				
PDZD8	118987	broad.mit.edu	37	10	119043707	119043707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:119043707G>A	ENST00000334464.5	-	5	2776	c.2537C>T	c.(2536-2538)aCt>aTt	p.T846I	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	846					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGGAACTGAGTATCCTGAAA	0.383																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(2536-2538)aCt>aTt		PDZ domain containing 8							64.0	65.0	65.0					10																	119043707		2202	4300	6502	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043707G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2537C>T	10.37:g.119043707G>A	ENSP00000334642:p.Thr846Ile						p.T846I	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2776	-		Colorectal(252;0.19)	846					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2537C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880078	0.72294	.	.	ENSG00000165650	ENST00000334464	D	0.93247	-3.19	5.52	5.52	0.82312	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.85682	D	0.000000	D	0.96534	0.8869	M	0.72576	2.205	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96689	0.9509	10	0.72032	D	0.01	-12.8669	19.43	0.94760	0.0:0.0:1.0:0.0	.	846	Q8NEN9	PDZD8_HUMAN	I	846	ENSP00000334642:T846I	ENSP00000334642:T846I	T	-	2	0	PDZD8	119033697	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.590000	0.87494	0.563000	0.77884	ACT		0.383	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		29	13	0	0	0	1	0	29	13				
ROS1	6098	broad.mit.edu	37	6	117609735	117609735	+	Missense_Mutation	SNP	C	C	T	rs559726522		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:117609735C>T	ENST00000368508.3	-	43	7162	c.6964G>A	c.(6964-6966)Gct>Act	p.A2322T	ROS1_ENST00000368507.3_Missense_Mutation_p.A2316T	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2322					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGCAGTAAGCCACTTGTTTT	0.473			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		18639	0.0		0.0	False		,,,				2504	0.001					ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(6964-6966)Gct>Act		c-ros oncogene 1 , receptor tyrosine kinase							112.0	109.0	110.0					6																	117609735		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117609735C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6964G>A	6.37:g.117609735C>T	ENSP00000357494:p.Ala2322Thr					ROS1_ENST00000368507.3_Missense_Mutation_p.A2316T	p.A2322T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	43	7162	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2322					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6964G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354377	0.82243	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.72167	-0.63;-0.63	4.5	4.5	0.54988	.	0.000000	0.44483	D	0.000453	T	0.67239	0.2872	L	0.27053	0.805	0.34052	D	0.656195	D	0.89917	1.0	D	0.79108	0.992	T	0.73360	-0.4007	10	0.87932	D	0	.	12.5719	0.56341	0.0:1.0:0.0:0.0	.	2322	P08922	ROS1_HUMAN	T	2322;2316	ENSP00000357494:A2322T;ENSP00000357493:A2316T	ENSP00000357493:A2316T	A	-	1	0	ROS1	117716428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.665000	0.37449	2.337000	0.79520	0.563000	0.77884	GCT		0.473	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			7	67	0	0	0	1	0	7	67				
STX11	8676	broad.mit.edu	37	6	144507899	144507899	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:144507899C>T	ENST00000367568.4	+	2	318	c.135C>T	c.(133-135)taC>taT	p.Y45Y		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	45					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)			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)		AGTCCCTGTACCGAGACATCC	0.602									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(133-135)taC>taT		syntaxin 11							50.0	45.0	47.0					6																	144507899		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144507899C>T	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.135C>T	6.37:g.144507899C>T							p.Y45Y	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	318	+			45					E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.135C>T	CCDS5205.1																																																																																				0.602	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			11	25	0	0	0	1	0	11	25				
NEURL4	84461	broad.mit.edu	37	17	7227490	7227490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7227490C>T	ENST00000399464.2	-	11	2014	c.1999G>A	c.(1999-2001)Ggc>Agc	p.G667S	NEURL4_ENST00000570460.1_Missense_Mutation_p.G645S|NEURL4_ENST00000315614.7_Missense_Mutation_p.G667S	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	667	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATAGACGCCCGGGGGCACG	0.677											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1999-2001)Ggc>Agc		neuralized E3 ubiquitin protein ligase 4							64.0	76.0	72.0					17																	7227490		2086	4234	6320	SO:0001583	missense	84461							g.chr17:7227490C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1999G>A	17.37:g.7227490C>T	ENSP00000382390:p.Gly667Ser		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000570460.1_Missense_Mutation_p.G645S|NEURL4_ENST00000315614.7_Missense_Mutation_p.G667S	p.G667S	NM_032442.2	NP_115818.2					11	2014	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.1999G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	2.323	-0.355140	0.05138	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74526	-0.85;-0.85	5.56	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);NEUZ (1);	0.166180	0.52532	N	0.000062	T	0.53465	0.1798	N	0.20483	0.58	0.09310	N	1	B;B	0.17667	0.023;0.005	B;B	0.15484	0.013;0.004	T	0.33445	-0.9868	10	0.09590	T	0.72	-15.9456	7.6456	0.28318	0.0:0.7539:0.0:0.2461	.	667;667	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	S	667	ENSP00000319826:G667S;ENSP00000382390:G667S	ENSP00000319826:G667S	G	-	1	0	NEURL4	7168214	0.529000	0.26322	0.076000	0.20297	0.094000	0.18550	3.476000	0.53143	1.351000	0.45789	-0.136000	0.14681	GGC		0.677	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		35	82	0	0	0	1	0	35	82				
SPTBN5	51332	broad.mit.edu	37	15	42143987	42143987	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42143987C>T	ENST00000320955.6	-	63	10873	c.10646G>A	c.(10645-10647)gGc>gAc	p.G3549D	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3549	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)		CTGCCTCCCGCCAGGCAGCAG	0.597																																						ENST00000320955.6																			0				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						c.(10645-10647)gGc>gAc		spectrin, beta, non-erythrocytic 5							41.0	45.0	44.0					15																	42143987		1942	4123	6065	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42143987C>T	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.10646G>A	15.37:g.42143987C>T	ENSP00000317790:p.Gly3549Asp						p.G3549D	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		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)	63	10873	-		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)	3549			PH.			Missense_Mutation	SNP	ENST00000320955.6	37	c.10646G>A		.	.	.	.	.	.	.	.	.	.	.	9.583	1.124002	0.20959	.	.	ENSG00000137877	ENST00000320955	T	0.29917	1.55	3.19	-3.34	0.04943	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.706463	0.11733	N	0.534792	T	0.16854	0.0405	L	0.46741	1.465	0.09310	N	1	B	0.30068	0.267	B	0.27500	0.08	T	0.28586	-1.0039	10	0.15499	T	0.54	.	1.4117	0.02292	0.1495:0.339:0.2957:0.2158	.	3549	Q9NRC6	SPTN5_HUMAN	D	3549	ENSP00000317790:G3549D	ENSP00000317790:G3549D	G	-	2	0	SPTBN5	39931279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.226000	0.17776	-0.430000	0.07318	-1.153000	0.01818	GGC		0.597	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		4	37	0	0	0	1	0	4	37				
AFAP1L2	84632	broad.mit.edu	37	10	116073791	116073791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:116073791C>T	ENST00000304129.4	-	7	660	c.631G>A	c.(631-633)Gac>Aac	p.D211N	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D264N|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.D211N			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	211	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGGCTGTGGTCCTTGGAGGAT	0.572																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(631-633)Gac>Aac		actin filament associated protein 1-like 2							129.0	95.0	106.0					10																	116073791		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116073791C>T	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.631G>A	10.37:g.116073791C>T	ENSP00000303042:p.Asp211Asn					AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D264N|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.D211N	p.D211N	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	7	931	-		Colorectal(252;0.175)|Breast(234;0.231)	211			PH 1.		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.631G>A	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566516	0.86439	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.86	4.86	0.63082	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.127358	0.53938	D	0.000059	T	0.44244	0.1284	M	0.75615	2.305	0.53005	D	0.999963	D;D;D;D;D	0.76494	0.997;0.998;0.999;0.997;0.998	D;D;D;D;D	0.76575	0.947;0.968;0.988;0.923;0.928	T	0.47983	-0.9074	10	0.87932	D	0	-25.6136	17.9861	0.89156	0.0:1.0:0.0:0.0	.	264;265;239;211;211	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	N	211;211;238;229;264;229	ENSP00000358276:D211N;ENSP00000303042:D211N;ENSP00000444511:D264N;ENSP00000396781:D229N	ENSP00000303042:D211N	D	-	1	0	AFAP1L2	116063781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.969000	0.70422	2.239000	0.73571	0.561000	0.74099	GAC		0.572	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		4	61	0	0	0	1	0	4	61				
FOLH1B	219595	broad.mit.edu	37	11	89424069	89424069	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:89424069G>A	ENST00000532352.1	+	0	1532							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAATTCAGCGGCTATCCACTG	0.333																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							53.0	61.0	58.0					11																	89424069		2201	4297	6498			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424069G>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424069G>A										Q9HBA9	FOH1B_HUMAN			0	1532	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.333	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		20	49	0	0	0	1	0	20	49				
WDR53	348793	broad.mit.edu	37	3	196288302	196288302	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:196288302G>A	ENST00000332629.5	-	3	612	c.45C>T	c.(43-45)tgC>tgT	p.C15C	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	15										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTGCATTCAGGCAGAGGACAG	0.527																																						ENST00000332629.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13						c.(43-45)tgC>tgT		WD repeat domain 53							62.0	62.0	62.0					3																	196288302		2203	4299	6502	SO:0001819	synonymous_variant	348793							g.chr3:196288302G>A	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.45C>T	3.37:g.196288302G>A						WDR53_ENST00000429115.1_Intron|WDR53_ENST00000433160.1_Intron	p.C15C	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	612	-	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		15					A0MNP1	Silent	SNP	ENST00000332629.5	37	c.45C>T	CCDS3318.1																																																																																				0.527	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		5	33	0	0	0	1	0	5	33				
ANKH	56172	broad.mit.edu	37	5	14716860	14716860	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:14716860G>A	ENST00000284268.6	-	9	1426	c.1096C>T	c.(1096-1098)Ctc>Ttc	p.L366F	ANKH_ENST00000535119.1_Missense_Mutation_p.L168F	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	366					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACAACACAGAGTTCTGCAAAG	0.428																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1096-1098)Ctc>Ttc		ANKH inorganic pyrophosphate transport regulator							104.0	98.0	100.0					5																	14716860		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14716860G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1096C>T	5.37:g.14716860G>A	ENSP00000284268:p.Leu366Phe					ANKH_ENST00000535119.1_Missense_Mutation_p.L168F	p.L366F	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			9	1426	-			366					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.1096C>T	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550973	0.65311	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.95821	-3.31;-3.82	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	P	0.51657	0.676	D	0.92152	0.5729	10	0.31617	T	0.26	-40.283	14.3224	0.66496	0.0728:0.0:0.9272:0.0	.	366	Q9HCJ1	ANKH_HUMAN	F	168;366	ENSP00000442524:L168F;ENSP00000284268:L366F	ENSP00000284268:L366F	L	-	1	0	ANKH	14769860	1.000000	0.71417	0.901000	0.35422	0.850000	0.48378	6.614000	0.74197	2.746000	0.94184	0.655000	0.94253	CTC		0.428	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		3	28	0	0	0	1	0	3	28				
C7orf31	136895	broad.mit.edu	37	7	25175624	25175624	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:25175624G>A	ENST00000409280.1	-	10	2048	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	C7orf31_ENST00000283905.3_Silent_p.F580F			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	580										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TATGGCCATAGAATTGGTGCT	0.358																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1738-1740)ttC>ttT		chromosome 7 open reading frame 31							85.0	85.0	85.0					7																	25175624		2203	4300	6503	SO:0001819	synonymous_variant	136895							g.chr7:25175624G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1740C>T	7.37:g.25175624G>A						C7orf31_ENST00000283905.3_Silent_p.F580F	p.F580F			Q8N865	CG031_HUMAN			10	2048	-			580					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	ENST00000409280.1	37	c.1740C>T	CCDS5394.1																																																																																				0.358	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		44	102	0	0	0	1	0	44	102				
MAP1A	4130	broad.mit.edu	37	15	43818787	43818787	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:43818787G>A	ENST00000300231.5	+	4	5566	c.5116G>A	c.(5116-5118)Gtc>Atc	p.V1706I	MAP1A_ENST00000382031.1_Missense_Mutation_p.V1944I|MAP1A_ENST00000399453.1_Missense_Mutation_p.V1706I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1706					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGAGCGGAAGGTCTGGTTCCC	0.572																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(5830-5832)Gtc>Atc		microtubule-associated protein 1A	Estramustine(DB01196)						55.0	62.0	60.0					15																	43818787		2024	4164	6188	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818787G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5116G>A	15.37:g.43818787G>A	ENSP00000300231:p.Val1706Ile					MAP1A_ENST00000300231.5_Missense_Mutation_p.V1706I|MAP1A_ENST00000399453.1_Missense_Mutation_p.V1706I	p.V1944I			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	5861	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1706					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5830G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	5.873	0.345220	0.11126	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02944	4.1;4.1;4.1	4.42	3.51	0.40186	.	.	.	.	.	T	0.03220	0.0094	L	0.36672	1.1	0.24137	N	0.995749	B	0.10296	0.003	B	0.11329	0.006	T	0.37549	-0.9701	9	0.45353	T	0.12	-3.9284	8.7908	0.34850	0.0848:0.1513:0.7639:0.0	.	1706	P78559	MAP1A_HUMAN	I	1944;1706;1706	ENSP00000371462:V1944I;ENSP00000382380:V1706I;ENSP00000300231:V1706I	ENSP00000300231:V1706I	V	+	1	0	MAP1A	41606079	0.994000	0.37717	1.000000	0.80357	0.520000	0.34377	2.674000	0.46867	1.080000	0.41073	0.563000	0.77884	GTC		0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		3	35	0	0	0	1	0	3	35				
ITGA3	3675	broad.mit.edu	37	17	48156270	48156270	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:48156270C>T	ENST00000320031.8	+	19	2710	c.2380C>T	c.(2380-2382)Ccc>Tcc	p.P794S	ITGA3_ENST00000007722.7_Missense_Mutation_p.P794S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	794					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGTAGGAAGCCCCCTCAAGTA	0.512																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2380-2382)Ccc>Tcc		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							88.0	92.0	90.0					17																	48156270		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156270C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2380C>T	17.37:g.48156270C>T	ENSP00000315190:p.Pro794Ser					ITGA3_ENST00000007722.7_Missense_Mutation_p.P794S	p.P794S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			19	2710	+			794					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2380C>T	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.59|16.59	3.164620|3.164620	0.57476|0.57476	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000506827|ENST00000007722;ENST00000538917;ENST00000320031	.|T;T	.|0.44083	.|0.93;0.93	4.77|4.77	3.8|3.8	0.43715|0.43715	.|Integrin alpha-2 (1);	0.110385|0.110385	0.64402|0.64402	D|N	0.000008|0.000008	T|T	0.59238|0.59238	0.2179|0.2179	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.996	T|T	0.60835|0.60835	-0.7184|-0.7184	6|10	.|0.09338	.|T	.|0.73	.|.	12.1466|12.1466	0.54026|0.54026	0.0:0.9148:0.0:0.0852|0.0:0.9148:0.0:0.0852	.|.	.|794;794	.|P26006-1;P26006	.|.;ITA3_HUMAN	L|S	172|794;780;794	.|ENSP00000007722:P794S;ENSP00000315190:P794S	.|ENSP00000007722:P794S	P|P	+|+	2|1	0|0	ITGA3|ITGA3	45511269|45511269	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.982000|0.982000	0.71751|0.71751	3.876000|3.876000	0.56115|0.56115	1.379000|1.379000	0.46325|0.46325	0.491000|0.491000	0.48974|0.48974	CCC|CCC		0.512	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		31	81	0	0	0	1	0	31	81				
FCGBP	8857	broad.mit.edu	37	19	40366319	40366319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40366319C>T	ENST00000221347.6	-	30	13922	c.13915G>A	c.(13915-13917)Gcc>Acc	p.A4639T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4639	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGCCCTGGGCCCCGCCCACC	0.697																																						ENST00000221347.6																			0				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						c.(13915-13917)Gcc>Acc		Fc fragment of IgG binding protein							31.0	39.0	36.0					19																	40366319		2203	4298	6501	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40366319C>T	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.13915G>A	19.37:g.40366319C>T	ENSP00000221347:p.Ala4639Thr						p.A4639T	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	13922	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4639			VWFD 11.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.13915G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	0.432	-0.902851	0.02453	.	.	ENSG00000090920	ENST00000221347	T	0.18960	2.18	4.14	0.613	0.17597	von Willebrand factor, type D domain (1);	1.092570	0.07134	U	0.846172	T	0.12987	0.0315	L	0.35542	1.07	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.37009	-0.9724	10	0.16420	T	0.52	.	2.8943	0.05686	0.1683:0.5252:0.1651:0.1413	.	4639	Q9Y6R7	FCGBP_HUMAN	T	4639	ENSP00000221347:A4639T	ENSP00000221347:A4639T	A	-	1	0	FCGBP	45058159	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	0.035000	0.13797	0.433000	0.26313	0.305000	0.20034	GCC		0.697	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		24	40	0	0	0	1	0	24	40				
CASP8	841	broad.mit.edu	37	2	202137407	202137407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:202137407G>A	ENST00000432109.2	+	5	647	c.458G>A	c.(457-459)gGa>gAa	p.G153E	CASP8_ENST00000264275.5_Missense_Mutation_p.G185E|CASP8_ENST00000392258.3_Missense_Mutation_p.G153E|CASP8_ENST00000392266.3_Missense_Mutation_p.G153E|CASP8_ENST00000392259.2_Missense_Mutation_p.G153E|CASP8_ENST00000323492.7_Missense_Mutation_p.G153E|CASP8_ENST00000358485.4_Missense_Mutation_p.G212E|CASP8_ENST00000264274.9_Missense_Mutation_p.G153E	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	153	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GTCATCCTGGGAGAAGGAAAG	0.423										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(634-636)gGa>gAa		caspase 8, apoptosis-related cysteine peptidase							145.0	149.0	148.0					2																	202137407		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202137407G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.458G>A	2.37:g.202137407G>A	ENSP00000412523:p.Gly153Glu	HNSCC(4;0.00038)				CASP8_ENST00000392259.2_Missense_Mutation_p.G153E|CASP8_ENST00000392258.3_Missense_Mutation_p.G153E|CASP8_ENST00000392266.3_Missense_Mutation_p.G153E|CASP8_ENST00000264275.5_Missense_Mutation_p.G185E|CASP8_ENST00000323492.7_Missense_Mutation_p.G153E|CASP8_ENST00000432109.2_Missense_Mutation_p.G153E|CASP8_ENST00000264274.9_Missense_Mutation_p.G153E	p.G212E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			4	831	+			153					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.635G>A	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742646	0.69418	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000424461;ENST00000444430	T;D;D;D;T;D;D;D;D;T;D;T;D;D	0.82255	4.46;-1.59;-1.59;-1.59;4.49;-1.59;-1.59;-1.59;-1.59;4.46;-1.59;4.46;-1.59;-1.59	5.98	5.09	0.68999	DEATH-like (2);Death effector (3);	0.349613	0.30142	N	0.010317	D	0.84606	0.5509	L	0.42245	1.32	0.09310	N	0.999999	P;P;P;P;P;P;B;B;D;D	0.69078	0.811;0.935;0.735;0.864;0.934;0.919;0.118;0.317;0.991;0.997	P;P;B;B;P;P;B;B;P;D	0.65233	0.646;0.704;0.389;0.393;0.654;0.548;0.14;0.086;0.804;0.933	T	0.74783	-0.3548	10	0.24483	T	0.36	.	9.6866	0.40103	0.0767:0.1473:0.776:0.0	.	153;153;153;153;153;212;153;153;185;153	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	E	153;153;153;153;153;185;50;153;153;212;153;153;153;16;16	ENSP00000376091:G153E;ENSP00000264274:G153E;ENSP00000376088:G153E;ENSP00000376094:G153E;ENSP00000412523:G153E;ENSP00000264275:G185E;ENSP00000391709:G50E;ENSP00000376087:G153E;ENSP00000388306:G153E;ENSP00000351273:G212E;ENSP00000397528:G153E;ENSP00000325722:G153E;ENSP00000390346:G16E;ENSP00000394434:G16E	ENSP00000264274:G153E	G	+	2	0	CASP8	201845652	0.859000	0.29813	0.073000	0.20177	0.340000	0.28889	1.413000	0.34725	1.496000	0.48567	0.591000	0.81541	GGA		0.423	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		48	78	0	0	0	1	0	48	78				
APOA2	336	broad.mit.edu	37	1	161192113	161192113	+	3'UTR	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161192113G>A	ENST00000367990.3	-	0	442				AL590714.1_ENST00000594609.1_Silent_p.E16E|APOA2_ENST00000470459.2_3'UTR|APOA2_ENST00000468465.1_3'UTR|APOA2_ENST00000463812.1_3'UTR|APOA2_ENST00000464492.1_3'UTR|APOA2_ENST00000491350.1_3'UTR	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II						acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTAGCAAAGAGTGGGTAGGGA	0.527																																						ENST00000594609.1																			0											c.(46-48)gaG>gaA																																						SO:0001624	3_prime_UTR_variant	0							g.chr1:161192113G>A		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.*82C>T	1.37:g.161192113G>A						APOA2_ENST00000481413.1_5'UTR|APOA2_ENST00000367990.3_3'UTR	p.E16E							2	48	+								B2R524	Silent	SNP	ENST00000367990.3	37	c.48G>A	CCDS1226.1																																																																																				0.527	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		5	56	0	0	0	1	0	5	56				
LMO7	4008	broad.mit.edu	37	13	76382335	76382335	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:76382335G>A	ENST00000321797.8	+	8	1938	c.1217G>A	c.(1216-1218)aGa>aAa	p.R406K	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Splice_Site_p.R691K|LMO7_ENST00000357063.3_Splice_Site_p.R691K|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Splice_Site_p.R406K|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	691					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGGTGGAGAGGTCAGAGTGT	0.512																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.e11+1		LIM domain 7							87.0	83.0	85.0					13																	76382335		1568	3582	5150	SO:0001630	splice_region_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76382335G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1217+1G>A	13.37:g.76382335G>A						LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Splice_Site_p.R691_splice|LMO7_ENST00000465261.2_Splice_Site_p.R406_splice|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Splice_Site_p.R406_splice	p.R691_splice			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	11	3332	+		Breast(118;0.0992)	691					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Splice_Site	SNP	ENST00000321797.8	37	c.2072_splice		.	.	.	.	.	.	.	.	.	.	G	34	5.384253	0.95967	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.76328	2.33	0.80722	D	1	P;D	0.69078	0.47;0.997	P;D	0.72625	0.448;0.978	T	0.68262	-0.5455	10	0.87932	D	0	-19.8396	20.4387	0.99107	0.0:0.0:1.0:0.0	.	691;406	Q8WWI1;E9PLH4	LMO7_HUMAN;.	K	691;691;406;406	ENSP00000349571:R691K;ENSP00000366757:R691K;ENSP00000317802:R406K;ENSP00000433352:R406K	ENSP00000317802:R406K	R	+	2	0	LMO7	75280336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.836000	0.97738	0.655000	0.94253	AGA		0.512	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	Missense_Mutation	6	17	0	0	0	1	0	6	17				
SPHKAP	80309	broad.mit.edu	37	2	228882029	228882029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:228882029G>A	ENST00000392056.3	-	7	3587	c.3541C>T	c.(3541-3543)Ccc>Tcc	p.P1181S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1181S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1181						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P1181S(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGCTTAGAGGGACAGCTAGGC	0.542																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.P1181S(2)	skin(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3541-3543)Ccc>Tcc		SPHK1 interactor, AKAP domain containing							85.0	81.0	82.0					2																	228882029		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882029G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3541C>T	2.37:g.228882029G>A	ENSP00000375909:p.Pro1181Ser					SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1181S	p.P1181S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3587	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1181					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3541C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048500	0.36181	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.56275	0.47;0.47	5.73	3.88	0.44766	.	0.118301	0.64402	D	0.000010	T	0.58235	0.2108	L	0.27053	0.805	0.40086	D	0.976195	D;P;D	0.89917	1.0;0.926;1.0	D;P;D	0.79108	0.974;0.454;0.992	T	0.53865	-0.8378	10	0.22706	T	0.39	.	15.3819	0.74664	0.0:0.2643:0.7357:0.0	.	212;1181;1181	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	S	1181	ENSP00000375909:P1181S;ENSP00000339886:P1181S	ENSP00000339886:P1181S	P	-	1	0	SPHKAP	228590273	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	3.900000	0.56295	0.725000	0.32318	0.561000	0.74099	CCC		0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		18	61	0	0	0	1	0	18	61				
KLF12	11278	broad.mit.edu	37	13	74420128	74420128	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:74420128G>A	ENST00000377669.2	-	3	532	c.506C>T	c.(505-507)cCt>cTt	p.P169L	KLF12_ENST00000377666.4_Missense_Mutation_p.P169L|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	169					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GGGACTTGAAGGCGGTACGGG	0.512																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(505-507)cCt>cTt		Kruppel-like factor 12							103.0	88.0	93.0					13																	74420128		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420128G>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.506C>T	13.37:g.74420128G>A	ENSP00000366897:p.Pro169Leu					KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.P169L	p.P169L	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	3	532	-		Prostate(6;0.00217)|Breast(118;0.0838)	169					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.506C>T	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755083	0.89843	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.01347	4.99;4.99	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.04961	-1.0915	10	0.56958	D	0.05	.	19.5289	0.95219	0.0:0.0:1.0:0.0	.	169	Q9Y4X4	KLF12_HUMAN	L	169	ENSP00000366897:P169L;ENSP00000366894:P169L	ENSP00000344057:P169L	P	-	2	0	KLF12	73318129	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	CCT		0.512	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		8	52	0	0	0	1	0	8	52				
PDHB	5162	broad.mit.edu	37	3	58415952	58415952	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:58415952C>T	ENST00000302746.6	-	7	645	c.603G>A	c.(601-603)gaG>gaA	p.E201E	RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000474765.1_Silent_p.E183E|PDHB_ENST00000485460.1_Silent_p.E183E	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	201					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	TCAATTCATTCTCTAGCACCA	0.338																																						ENST00000302746.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9						c.(601-603)gaG>gaA		pyruvate dehydrogenase (lipoamide) beta	NADH(DB00157)|Pyruvic acid(DB00119)						75.0	77.0	76.0					3																	58415952		2203	4300	6503	SO:0001819	synonymous_variant	5162				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr3:58415952C>T		CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.603G>A	3.37:g.58415952C>T						PDHB_ENST00000474765.1_Silent_p.E183E|PDHB_ENST00000485460.1_Silent_p.E183E	p.E201E	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	7	645	-			201					B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Silent	SNP	ENST00000302746.6	37	c.603G>A	CCDS2890.1																																																																																				0.338	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353558.1			14	40	0	0	0	1	0	14	40				
KIF16B	55614	broad.mit.edu	37	20	16360069	16360069	+	Missense_Mutation	SNP	T	T	C	rs200360811		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:16360069T>C	ENST00000354981.2	-	19	2735	c.2578A>G	c.(2578-2580)Atc>Gtc	p.I860V	KIF16B_ENST00000355755.3_Missense_Mutation_p.I860V|KIF16B_ENST00000378003.2_Missense_Mutation_p.I86V|KIF16B_ENST00000408042.1_Missense_Mutation_p.I860V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	860	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			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						CACTCTAGGATCTCCTGTTCT	0.413																																						ENST00000354981.2																			0				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						c.(2578-2580)Atc>Gtc		kinesin family member 16B		T	VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	149.0	146.0	147.0		2578,2578,2578	-7.1	0.0	20		147	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	29,29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	860/1267,860/1393,860/1318	16360069	1,13005	2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360069T>C	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.2578A>G	20.37:g.16360069T>C	ENSP00000347076:p.Ile860Val					KIF16B_ENST00000378003.2_Missense_Mutation_p.I86V|KIF16B_ENST00000408042.1_Missense_Mutation_p.I860V|KIF16B_ENST00000355755.3_Missense_Mutation_p.I860V	p.I860V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2735	-			860			Glu-rich.		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	c.2578A>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	T	1.023	-0.684349	0.03353	0.0	1.16E-4	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.6	-7.08	0.01558	.	1.926410	0.02346	N	0.075370	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.25433	-1.0132	10	0.16420	T	0.52	.	4.3423	0.11115	0.0939:0.3813:0.1026:0.4221	.	860;860;860;860	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	V	860;860;704;86;860	ENSP00000347076:I860V;ENSP00000347995:I860V;ENSP00000367242:I86V;ENSP00000384164:I860V	ENSP00000347076:I860V	I	-	1	0	KIF16B	16308069	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.553000	0.06012	-1.361000	0.02169	-0.924000	0.02725	ATC		0.413	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		61	125	0	0	0	1	0	61	125				
LAMB2	3913	broad.mit.edu	37	3	49163188	49163188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49163188C>T	ENST00000418109.1	-	19	2644	c.2480G>A	c.(2479-2481)gGc>gAc	p.G827D	LAMB2_ENST00000305544.4_Missense_Mutation_p.G827D|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	827	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTTGACAGCCTGTGGGGCC	0.577																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2479-2481)gGc>gAc		laminin, beta 2 (laminin S)							111.0	96.0	101.0					3																	49163188		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49163188C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2480G>A	3.37:g.49163188C>T	ENSP00000388325:p.Gly827Asp					LAMB2_ENST00000305544.4_Missense_Mutation_p.G827D	p.G827D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	19	2644	-			827			Laminin EGF-like 6.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.2480G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287761	0.95517	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.62105	0.05;0.05	5.7	5.7	0.88788	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	H	0.98351	4.21	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.89451	0.3730	10	0.33940	T	0.23	.	19.8306	0.96634	0.0:1.0:0.0:0.0	.	827	P55268	LAMB2_HUMAN	D	827	ENSP00000388325:G827D;ENSP00000307156:G827D	ENSP00000307156:G827D	G	-	2	0	LAMB2	49138192	1.000000	0.71417	0.922000	0.36590	0.996000	0.88848	7.402000	0.79972	2.682000	0.91365	0.563000	0.77884	GGC		0.577	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		11	26	0	0	0	1	0	11	26				
GLTSCR1L	23506	broad.mit.edu	37	6	42821381	42821381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:42821381G>A	ENST00000314073.5	+	8	2127	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D651N			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	651								p.D651Y(1)									AATAGGGCAGGATTCTGGAAG	0.438																																						ENST00000314073.5																			1	Substitution - Missense(1)	p.D651Y(1)	lung(1)								c.(1951-1953)Gat>Aat		GLTSCR1-like							113.0	107.0	109.0					6																	42821381		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42821381G>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1951G>A	6.37:g.42821381G>A	ENSP00000313933:p.Asp651Asn					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D651N	p.D651N							8	2127	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1951G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552240	0.45487	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.43294	0.95;0.95	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000013	T	0.19604	0.0471	L	0.44542	1.39	0.80722	D	1	B	0.31548	0.328	B	0.27380	0.079	T	0.05007	-1.0912	10	0.15499	T	0.54	-14.7255	16.2303	0.82332	0.0:0.0:1.0:0.0	.	651	Q6AI39	K0240_HUMAN	N	651	ENSP00000313933:D651N;ENSP00000377723:D651N	ENSP00000313933:D651N	D	+	1	0	KIAA0240	42929359	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.956000	0.70315	2.253000	0.74438	0.462000	0.41574	GAT		0.438	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		21	39	0	0	0	1	0	21	39				
NAA15	80155	broad.mit.edu	37	4	140280940	140280940	+	Missense_Mutation	SNP	C	C	T	rs200767450		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:140280940C>T	ENST00000296543.5	+	12	1624	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	NAA15_ENST00000398947.1_Missense_Mutation_p.A434V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	434					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGGATGAGGCCCAGGCCTTG	0.403																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1300-1302)gCc>gTc		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							100.0	95.0	97.0					4																	140280940		1909	4167	6076	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140280940C>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1301C>T	4.37:g.140280940C>T	ENSP00000296543:p.Ala434Val					NAA15_ENST00000398947.1_Missense_Mutation_p.A434V	p.A434V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			12	1624	+			434					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.1301C>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640473	0.96693	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.59772	0.24;0.24	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.89287	3.02	0.80722	D	1	D	0.65815	0.995	D	0.67900	0.954	D	0.83388	0.0016	10	0.87932	D	0	-4.8192	20.1951	0.98241	0.0:1.0:0.0:0.0	.	434	Q9BXJ9	NAA15_HUMAN	V	434;308;434	ENSP00000296543:A434V;ENSP00000381920:A434V	ENSP00000296543:A434V	A	+	2	0	NAA15	140500390	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.413000	0.80104	2.780000	0.95670	0.585000	0.79938	GCC		0.403	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		27	12	0	0	0	1	0	27	12				
NEK9	91754	broad.mit.edu	37	14	75573286	75573286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75573286C>T	ENST00000238616.5	-	12	1605	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	483					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GAGACCTGCTCCACTGGATTG	0.507																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(1447-1449)Gag>Aag		NIMA-related kinase 9							161.0	149.0	153.0					14																	75573286		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75573286C>T	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1447G>A	14.37:g.75573286C>T	ENSP00000238616:p.Glu483Lys						p.E483K	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	12	1605	-			483					Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.1447G>A	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817597	0.50633	.	.	ENSG00000119638	ENST00000238616;ENST00000540227	D	0.83914	-1.78	4.99	4.99	0.66335	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.267117	0.37095	N	0.002258	T	0.72350	0.3449	N	0.21545	0.675	0.43766	D	0.996287	B	0.23249	0.082	B	0.24006	0.05	T	0.67925	-0.5544	10	0.07030	T	0.85	.	18.2652	0.90050	0.0:1.0:0.0:0.0	.	483	Q8TD19	NEK9_HUMAN	K	483;465	ENSP00000238616:E483K	ENSP00000238616:E483K	E	-	1	0	NEK9	74643039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.877000	0.63086	2.280000	0.76307	0.655000	0.94253	GAG		0.507	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		4	97	0	0	0	1	0	4	97				
SMURF1	57154	broad.mit.edu	37	7	98649033	98649033	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:98649033G>A	ENST00000361125.1	-	8	1072	c.753C>T	c.(751-753)taC>taT	p.Y251Y	SMURF1_ENST00000361368.2_Silent_p.Y251Y|SMURF1_ENST00000480055.1_5'Flank	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	251	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TATGCAAAAAGTAAACTTGGC	0.473																																						ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(751-753)taC>taT		SMAD specific E3 ubiquitin protein ligase 1							190.0	168.0	175.0					7																	98649033		2203	4300	6503	SO:0001819	synonymous_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98649033G>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.753C>T	7.37:g.98649033G>A						SMURF1_ENST00000361368.2_Silent_p.Y251Y	p.Y251Y	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		8	1072	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		251			WW 1.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	c.753C>T	CCDS34690.1																																																																																				0.473	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		37	119	0	0	0	1	0	37	119				
PCDH15	65217	broad.mit.edu	37	10	55582885	55582885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:55582885C>T	ENST00000320301.6	-	33	4995	c.4601G>A	c.(4600-4602)aGt>aAt	p.S1534N	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1465N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1511N|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1536N|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1494N|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1531N|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1534					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATACTTGACTTATGTTTTC	0.378										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4606-4608)aGt>aAt		protocadherin-related 15							84.0	91.0	89.0					10																	55582885		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582885C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4601G>A	10.37:g.55582885C>T	ENSP00000322604:p.Ser1534Asn	HNSCC(58;0.16)				PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1494N|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1534N|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1511N|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1531N|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1465N|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron	p.S1536N	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	5001	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1534					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4607G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	2.008	-0.427704	0.04701	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.57107	0.45;0.42;0.46;0.43;0.43;0.44	5.91	1.58	0.23477	.	.	.	.	.	T	0.32466	0.0830	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B;B	0.29955	0.044;0.08;0.08;0.08;0.08;0.263;0.044;0.08	B;B;B;B;B;B;B;B	0.26614	0.045;0.045;0.045;0.045;0.045;0.071;0.045;0.045	T	0.25847	-1.0120	9	0.44086	T	0.13	.	0.4861	0.00556	0.2626:0.3128:0.1299:0.2947	.	1511;1534;1536;1541;1465;1494;1531;1534	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	N	1494;1536;1511;1534;1531;1541;1465	ENSP00000378820:S1494N;ENSP00000354950:S1536N;ENSP00000378821:S1511N;ENSP00000322604:S1534N;ENSP00000378818:S1531N;ENSP00000412628:S1465N	ENSP00000322604:S1534N	S	-	2	0	PCDH15	55252891	0.542000	0.26426	0.000000	0.03702	0.001000	0.01503	0.291000	0.18994	0.000000	0.14550	-0.355000	0.07637	AGT		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		34	69	0	0	0	1	0	34	69				
NBPF10	100132406	broad.mit.edu	37	1	145304627	145304627	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:145304627G>A	ENST00000369339.3	+	7	1000	c.747G>A	c.(745-747)tgG>tgA	p.W249*	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Nonsense_Mutation_p.W520*|NBPF10_ENST00000369338.1_Nonsense_Mutation_p.W249*			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	520	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGTTGAATGGGAGGATGCTG	0.433																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1558-1560)tgG>tgA		neuroblastoma breakpoint family, member 10																																				SO:0001587	stop_gained	100132406							g.chr1:145304627G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.747G>A	1.37:g.145304627G>A	ENSP00000358345:p.Trp249*					NBPF10_ENST00000369338.1_Nonsense_Mutation_p.W249*|NBPF10_ENST00000369339.2_Nonsense_Mutation_p.W249*|RP11-458D21.5_ENST00000468030.1_3'UTR	p.W520*	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	10	1595	+	all_hematologic(923;0.032)		520					Q5RHC0|Q9NWN6	Nonsense_Mutation	SNP	ENST00000369339.3	37	c.1560G>A		.	.	.	.	.	.	.	.	.	.	.	37	6.423316	0.97555	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960;ENST00000449032	.	.	.	0.745	-0.373	0.12516	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	3.3127	0.07022	0.3318:0.0:0.6682:0.0	.	.	.	.	X	445;249;249;520;9	.	ENSP00000345684:W520X	W	+	3	0	NBPF10	144015984	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.544000	0.06077	-0.142000	0.11354	0.162000	0.16502	TGG		0.433	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		17	601	0	0	0	1	0	17	601				
GYS1	2997	broad.mit.edu	37	19	49485588	49485588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49485588G>A	ENST00000323798.3	-	7	1182	c.986C>T	c.(985-987)gCc>gTc	p.A329V	GYS1_ENST00000263276.6_Missense_Mutation_p.A265V|GYS1_ENST00000541188.1_Missense_Mutation_p.A249V|GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.P210S	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	329					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ATAGCGGCCGGCGATAAAGAA	0.557																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(985-987)gCc>gTc		glycogen synthase 1 (muscle)							91.0	81.0	84.0					19																	49485588		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49485588G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.986C>T	19.37:g.49485588G>A	ENSP00000317904:p.Ala329Val					GYS1_ENST00000541188.1_Missense_Mutation_p.A249V|GYS1_ENST00000540532.1_Missense_Mutation_p.P210S|GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.A265V	p.A329V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	7	1182	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	329					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.986C>T	CCDS12747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.67|14.67	2.605163|2.605163	0.46423|0.46423	.|.	.|.	ENSG00000104812|ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188|ENST00000540532	T;T;T|T	0.70045|0.26223	-0.45;-0.45;-0.45|1.75	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57799|0.57799	0.2078|0.2078	M|M	0.92833|0.92833	3.35|3.35	0.38927|0.38927	D|D	0.95786|0.95786	D;P;D|.	0.89917|.	1.0;0.942;1.0|.	D;P;D|.	0.91635|.	0.999;0.781;0.999|.	T|T	0.66436|0.66436	-0.5924|-0.5924	10|7	0.87932|0.34782	D|T	0|0.22	-15.7521|-15.7521	16.4007|16.4007	0.83640|0.83640	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	249;265;329|.	B7Z806;Q9BTT9;P13807|.	.;.;GYS1_HUMAN|.	V|S	329;265;249|210	ENSP00000317904:A329V;ENSP00000263276:A265V;ENSP00000437922:A249V|ENSP00000445197:P210S	ENSP00000263276:A265V|ENSP00000445197:P210S	A|P	-|-	2|1	0|0	GYS1|GYS1	54177400|54177400	1.000000|1.000000	0.71417|0.71417	0.802000|0.802000	0.32245|0.32245	0.994000|0.994000	0.84299|0.84299	9.325000|9.325000	0.96381|0.96381	2.542000|2.542000	0.85734|0.85734	0.650000|0.650000	0.86243|0.86243	GCC|CCG		0.557	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		18	62	0	0	0	1	0	18	62				
CFAP43	80217	broad.mit.edu	37	10	105902118	105902118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105902118C>T	ENST00000357060.3	-	33	4307	c.4192G>A	c.(4192-4194)Gca>Aca	p.A1398T	WDR96_ENST00000428666.1_Missense_Mutation_p.A1370T|WDR96_ENST00000479392.1_5'Flank	NM_025145.5	NP_079421.5														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						AGGAAAGTTGCCATTTCCAAT	0.398																																						ENST00000357060.3																			0				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						c.(4192-4194)Gca>Aca		WD repeat domain 96							156.0	144.0	148.0					10																	105902118		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105902118C>T																												ENST00000357060.3:c.4192G>A	10.37:g.105902118C>T	ENSP00000349568:p.Ala1398Thr					WDR96_ENST00000428666.1_Missense_Mutation_p.A1370T	p.A1398T	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			33	4307	-			1398						Missense_Mutation	SNP	ENST00000357060.3	37	c.4192G>A	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.372|7.372	0.626939|0.626939	0.14257|0.14257	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000457071;ENST00000434629	T;T|.	0.14266|.	2.53;2.52|.	5.55|5.55	-3.26|-3.26	0.05064|0.05064	.|.	1.112830|.	0.06633|.	N|.	0.759575|.	T|.	0.06142|.	0.0159|.	N|N	0.00707|0.00707	-1.245|-1.245	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.09377|.	0.004;0.003|.	T|.	0.32455|.	-0.9906|.	10|.	0.17369|.	T|.	0.5|.	.|.	0.9871|0.9871	0.01448|0.01448	0.1774:0.3325:0.1709:0.3192|0.1774:0.3325:0.1709:0.3192	.|.	1370;1398|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	T|X	1398;1370|246;729	ENSP00000349568:A1398T;ENSP00000400289:A1370T|.	ENSP00000349568:A1398T|.	A|W	-|-	1|3	0|0	WDR96|WDR96	105892108|105892108	0.001000|0.001000	0.12720|0.12720	0.012000|0.012000	0.15200|0.15200	0.726000|0.726000	0.41606|0.41606	-0.622000|-0.622000	0.05553|0.05553	-0.499000|-0.499000	0.06623|0.06623	0.462000|0.462000	0.41574|0.41574	GCA|TGG		0.398	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				42	74	0	0	0	1	0	42	74				
ATP2A1	487	broad.mit.edu	37	16	28900110	28900110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28900110C>T	ENST00000357084.3	+	9	1198	c.931C>T	c.(931-933)Ctt>Ttt	p.L311F	ATP2A1_ENST00000536376.1_Missense_Mutation_p.L186F|ATP2A1_ENST00000395503.4_Missense_Mutation_p.L311F	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	311					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCCACAGGTCTTCCTGCAGT	0.607																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(931-933)Ctt>Ttt		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							82.0	77.0	79.0					16																	28900110		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28900110C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.931C>T	16.37:g.28900110C>T	ENSP00000349595:p.Leu311Phe					ATP2A1_ENST00000536376.1_Missense_Mutation_p.L186F|ATP2A1_ENST00000357084.3_Missense_Mutation_p.L311F	p.L311F	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			9	1115	+			311					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.931C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465712	0.84425	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.97598	-4.45;-4.45;-4.41	5.33	5.33	0.75918	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.88031	2.925	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.99780	1.1027	10	0.87932	D	0	.	17.768	0.88484	0.0:1.0:0.0:0.0	.	186;311;311	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	F	311;311;348;186	ENSP00000349595:L311F;ENSP00000378879:L311F;ENSP00000443101:L186F	ENSP00000349595:L311F	L	+	1	0	ATP2A1	28807611	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.030000	0.70903	2.491000	0.84063	0.467000	0.42956	CTT		0.607	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		30	46	0	0	0	1	0	30	46				
POLR3F	10621	broad.mit.edu	37	20	18448159	18448159	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:18448159G>A	ENST00000377603.4	+	1	389	c.9G>A	c.(7-9)gaG>gaA	p.E3E	DZANK1_ENST00000262547.5_5'Flank|POLR3F_ENST00000462997.1_3'UTR|DZANK1_ENST00000357236.4_5'Flank|DZANK1_ENST00000329494.5_5'Flank|DZANK1_ENST00000358866.6_5'Flank	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	3					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)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						TCATGGCGGAGGTGAAGGTGA	0.632																																					GBM(69;898 1468 19907 52011)	ENST00000377603.4																			0				breast(2)	2						c.(7-9)gaG>gaA		polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa							49.0	52.0	51.0					20																	18448159		2203	4300	6503	SO:0001819	synonymous_variant	10621				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr20:18448159G>A	U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.9G>A	20.37:g.18448159G>A						POLR3F_ENST00000462997.1_3'UTR	p.E3E	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN			1	389	+			3					A8K4C7|O15319	Silent	SNP	ENST00000377603.4	37	c.9G>A	CCDS13135.1																																																																																				0.632	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078170.2	NM_006466		5	50	0	0	0	1	0	5	50				
PLXNC1	10154	broad.mit.edu	37	12	94658867	94658867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:94658867G>A	ENST00000258526.4	+	21	3712	c.3463G>A	c.(3463-3465)Gag>Aag	p.E1155K	PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.E202K	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1155					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTGTCGGAGAGCCCTTCTA	0.423																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3463-3465)Gag>Aag		plexin C1							180.0	189.0	186.0					12																	94658867		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94658867G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3463G>A	12.37:g.94658867G>A	ENSP00000258526:p.Glu1155Lys					PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.E202K|PLXNC1_ENST00000545312.1_5'UTR	p.E1155K	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			21	3712	+			1155					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3463G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849923	0.91277	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.18810	2.19;2.19	6.17	5.28	0.74379	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.045850	0.85682	D	0.000000	T	0.42063	0.1186	L	0.52266	1.64	0.80722	D	1	D;D	0.71674	0.972;0.998	P;D	0.70227	0.675;0.968	T	0.34477	-0.9827	10	0.87932	D	0	.	17.0474	0.86508	0.0:0.0:0.8718:0.1282	.	202;1155	B4DHQ7;O60486	.;PLXC1_HUMAN	K	1155;202	ENSP00000258526:E1155K;ENSP00000446720:E202K	ENSP00000258526:E1155K	E	+	1	0	PLXNC1	93182998	1.000000	0.71417	0.905000	0.35620	0.924000	0.55760	5.177000	0.65032	1.602000	0.50124	0.655000	0.94253	GAG		0.423	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			74	134	0	0	0	1	0	74	134				
FERMT3	83706	broad.mit.edu	37	11	63988591	63988591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:63988591G>A	ENST00000279227.5	+	13	1756	c.1661G>A	c.(1660-1662)gGc>gAc	p.G554D	FERMT3_ENST00000345728.5_Missense_Mutation_p.G550D	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	554	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCCGACTTCGGCATCTCCTAT	0.667																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1660-1662)gGc>gAc		fermitin family member 3							76.0	71.0	73.0					11																	63988591		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63988591G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1661G>A	11.37:g.63988591G>A	ENSP00000279227:p.Gly554Asp					FERMT3_ENST00000345728.5_Missense_Mutation_p.G550D	p.G554D	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			13	1756	+			554			FERM.		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1661G>A	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630634	0.87660	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	D;D	0.95307	-3.67;-3.67	4.56	4.56	0.56223	Band 4.1 domain (1);FERM central domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97127	0.9815	10	0.87932	D	0	-39.2807	16.6247	0.84967	0.0:0.0:1.0:0.0	.	550;554	Q86UX7-2;Q86UX7	.;URP2_HUMAN	D	550;554	ENSP00000339950:G550D;ENSP00000279227:G554D	ENSP00000279227:G554D	G	+	2	0	FERMT3	63745167	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.199000	0.95003	2.536000	0.85505	0.462000	0.41574	GGC		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		29	54	0	0	0	1	0	29	54				
GIMAP8	155038	broad.mit.edu	37	7	150174763	150174763	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150174763C>T	ENST00000307271.3	+	5	2467	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	631	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTGGGTGGTCCGGGTATCCCC	0.403																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1891-1893)tcC>tcT		GTPase, IMAP family member 8							67.0	77.0	74.0					7																	150174763		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174763C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1893C>T	7.37:g.150174763C>T							p.S631S	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2467	+			631						Silent	SNP	ENST00000307271.3	37	c.1893C>T	CCDS34777.1																																																																																				0.403	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		6	138	0	0	0	1	0	6	138				
PES1	23481	broad.mit.edu	37	22	30975832	30975832	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:30975832G>A	ENST00000405677.1	-	14	1786	c.843C>T	c.(841-843)ccC>ccT	p.P281P	PES1_ENST00000335214.6_Silent_p.P415P|PES1_ENST00000354694.7_Silent_p.P420P|PES1_ENST00000402284.3_Silent_p.P403P|PES1_ENST00000402281.1_Silent_p.P281P	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						AAAGGTGTGGGGGCAGCTGCA	0.607																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(841-843)ccC>ccT		pescadillo ribosomal biogenesis factor 1							91.0	93.0	93.0					22																	30975832		2203	4300	6503	SO:0001819	synonymous_variant	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30975832G>A	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.843C>T	22.37:g.30975832G>A						PES1_ENST00000335214.6_Silent_p.P415P|PES1_ENST00000405677.1_Silent_p.P281P|PES1_ENST00000354694.6_Silent_p.P420P|PES1_ENST00000402284.3_Silent_p.P403P	p.P281P			O00541	PESC_HUMAN			14	1834	-			420						Silent	SNP	ENST00000405677.1	37	c.843C>T		.	.	.	.	.	.	.	.	.	.	G	10.35	1.324769	0.24080	.	.	ENSG00000100029	ENST00000441668	T	0.36520	1.25	4.89	1.33	0.21861	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22068	-1.0227	7	0.87932	D	0	-28.6425	3.5968	0.08009	0.1565:0.1278:0.5845:0.1313	.	.	.	.	S	27	ENSP00000404234:P27S	ENSP00000404234:P27S	P	-	1	0	PES1	29305832	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.006000	0.29847	0.431000	0.26258	0.655000	0.94253	CCC		0.607	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		6	78	0	0	0	1	0	6	78				
RUNX1	861	broad.mit.edu	37	21	36259155	36259155	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:36259155C>T	ENST00000344691.4	-	1	1832	c.255G>A	c.(253-255)ctG>ctA	p.L85L	RUNX1_ENST00000325074.5_Silent_p.L100L|RUNX1_ENST00000300305.3_Silent_p.L112L|RUNX1_ENST00000486278.2_Silent_p.L88L|RUNX1_ENST00000437180.1_Silent_p.L112L|RUNX1_ENST00000358356.5_Silent_p.L85L|RUNX1_ENST00000399240.1_Silent_p.L85L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	85	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V90_K117del(1)|p.L112fs*24(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AAGCGATGGGCAGGGTCTTGT	0.716			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	ENST00000344691.4				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""		"""AML, preB- ALL, T-ALL"""		2	Deletion - Frameshift(1)|Deletion - In frame(1)	p.V90_K117del(1)|p.L112fs*24(1)	haematopoietic_and_lymphoid_tissue(2)	breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(253-255)ctG>ctA		runt-related transcription factor 1							55.0	53.0	54.0					21																	36259155		2203	4300	6503	SO:0001819	synonymous_variant	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36259155C>T	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.255G>A	21.37:g.36259155C>T						RUNX1_ENST00000486278.2_Silent_p.L88L|RUNX1_ENST00000358356.5_Silent_p.L85L|RUNX1_ENST00000399240.1_Silent_p.L85L|RUNX1_ENST00000300305.3_Silent_p.L112L|RUNX1_ENST00000325074.5_Silent_p.L100L|RUNX1_ENST00000437180.1_Silent_p.L112L	p.L85L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			1	1832	-			85			Runt.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	c.255G>A	CCDS42922.1																																																																																				0.716	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			25	41	0	0	0	1	0	25	41				
SEZ6L2	26470	broad.mit.edu	37	16	29891252	29891252	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29891252G>A	ENST00000308713.5	-	9	2033	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P	SEZ6L2_ENST00000350527.3_Silent_p.P432P|SEZ6L2_ENST00000537485.1_Silent_p.P458P|SEZ6L2_ENST00000346932.5_Silent_p.P388P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	502	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCATTGGGGGGCCCAGGGG	0.607																																						ENST00000308713.5																			0				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						c.(1504-1506)ccC>ccT		seizure related 6 homolog (mouse)-like 2							122.0	122.0	122.0					16																	29891252		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891252G>A	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.1506C>T	16.37:g.29891252G>A						SEZ6L2_ENST00000350527.3_Silent_p.P432P|SEZ6L2_ENST00000346932.5_Silent_p.P388P|SEZ6L2_ENST00000537485.1_Silent_p.P458P	p.P502P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			9	2033	-			502			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.1506C>T	CCDS10659.1																																																																																				0.607	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		11	202	0	0	0	1	0	11	202				
NAT10	55226	broad.mit.edu	37	11	34152949	34152949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:34152949C>T	ENST00000257829.3	+	14	1597	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	NAT10_ENST00000531159.2_Missense_Mutation_p.S392F|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	464						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TATGAGGTTTCCCTCCAGGAG	0.458																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1390-1392)tCc>tTc		N-acetyltransferase 10 (GCN5-related)							152.0	125.0	134.0					11																	34152949		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34152949C>T	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1391C>T	11.37:g.34152949C>T	ENSP00000257829:p.Ser464Phe					NAT10_ENST00000531159.2_Missense_Mutation_p.S392F|NAT10_ENST00000527971.1_Intron	p.S464F	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			14	1597	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	464					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.1391C>T	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146705	0.77888	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.47869	0.83;0.83	5.76	5.76	0.90799	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.095774	0.85682	D	0.000000	T	0.51278	0.1665	M	0.61703	1.905	0.80722	D	1	B	0.29232	0.238	B	0.29267	0.1	T	0.50524	-0.8818	10	0.59425	D	0.04	-24.4342	20.3242	0.98691	0.0:1.0:0.0:0.0	.	464	Q9H0A0	NAT10_HUMAN	F	464;392	ENSP00000257829:S464F;ENSP00000433011:S392F	ENSP00000257829:S464F	S	+	2	0	NAT10	34109525	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.776000	0.85560	2.882000	0.98803	0.655000	0.94253	TCC		0.458	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		8	94	0	0	0	1	0	8	94				
CHRND	1144	broad.mit.edu	37	2	233394706	233394706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:233394706C>T	ENST00000258385.3	+	7	709	c.677C>T	c.(676-678)gCc>gTc	p.A226V	CHRND_ENST00000543200.1_Missense_Mutation_p.A211V|CHRND_ENST00000536614.1_Silent_p.S189S|CHRND_ENST00000457943.2_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	226					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GACCCCAGAGCCCCTCTGGAC	0.632																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(676-678)gCc>gTc		cholinergic receptor, nicotinic, delta (muscle)							121.0	106.0	111.0					2																	233394706		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394706C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.677C>T	2.37:g.233394706C>T	ENSP00000258385:p.Ala226Val					CHRND_ENST00000543200.1_Missense_Mutation_p.A211V|CHRND_ENST00000536614.1_Silent_p.S189S|CHRND_ENST00000457943.2_Intron	p.A226V	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	7	709	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	226					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.677C>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.083124	0.20309	.	.	ENSG00000135902	ENST00000543200;ENST00000258385	T;T	0.79653	-1.29;-1.29	5.02	-4.54	0.03452	Neurotransmitter-gated ion-channel ligand-binding (3);	1.230050	0.05493	N	0.557088	T	0.63177	0.2489	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.49011	-0.8983	10	0.17369	T	0.5	.	11.2351	0.48936	0.0938:0.2067:0.0:0.6995	.	211;226;226	B4DT92;A8K661;Q07001	.;.;ACHD_HUMAN	V	211;226	ENSP00000438380:A211V;ENSP00000258385:A226V	ENSP00000258385:A226V	A	+	2	0	CHRND	233102950	0.000000	0.05858	0.006000	0.13384	0.967000	0.64934	-0.962000	0.03841	-0.953000	0.03645	0.655000	0.94253	GCC		0.632	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			21	45	0	0	0	1	0	21	45				
ZNF608	57507	broad.mit.edu	37	5	124036911	124036911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:124036911G>A	ENST00000306315.5	-	2	1393	c.958C>T	c.(958-960)Ctc>Ttc	p.L320F	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	320							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGAGGCGTGAGACTGCTGGAA	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(958-960)Ctc>Ttc		zinc finger protein 608							143.0	138.0	139.0					5																	124036911		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124036911G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.958C>T	5.37:g.124036911G>A	ENSP00000307746:p.Leu320Phe					ZNF608_ENST00000504926.1_5'UTR	p.L320F	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	2	1393	-		all_cancers(142;0.186)|Prostate(80;0.081)	320					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.958C>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519653	0.64634	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.48836	0.8	5.93	4.99	0.66335	.	0.183845	0.39615	N	0.001312	T	0.33990	0.0882	N	0.08118	0	0.40786	D	0.983219	D	0.55800	0.973	P	0.51016	0.656	T	0.07121	-1.0789	10	0.09338	T	0.73	-14.9894	13.8195	0.63311	0.0:0.0:0.7426:0.2574	.	320	Q9ULD9	ZN608_HUMAN	F	320	ENSP00000307746:L320F	ENSP00000307746:L320F	L	-	1	0	ZNF608	124064810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.020000	0.57189	2.826000	0.97356	0.655000	0.94253	CTC		0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		4	54	0	0	0	1	0	4	54				
MGA	23269	broad.mit.edu	37	15	42059195	42059195	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42059195G>A	ENST00000570161.1	+	23	8915	c.8915G>A	c.(8914-8916)gGc>gAc	p.G2972D	MGA_ENST00000545763.1_Missense_Mutation_p.G2763D|MGA_ENST00000566586.1_Missense_Mutation_p.G2763D|MGA_ENST00000389936.4_Missense_Mutation_p.G2933D|MGA_ENST00000219905.7_Missense_Mutation_p.G2972D			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGAAGACTGGCTTGGAGAAC	0.502																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(8914-8916)gGc>gAc		MGA, MAX dimerization protein							49.0	50.0	50.0					15																	42059195		1945	4135	6080	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42059195G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8915G>A	15.37:g.42059195G>A	ENSP00000457035:p.Gly2972Asp					MGA_ENST00000545763.1_Missense_Mutation_p.G2763D|MGA_ENST00000570161.1_Missense_Mutation_p.G2972D|MGA_ENST00000389936.4_Missense_Mutation_p.G2933D|MGA_ENST00000566586.1_Missense_Mutation_p.G2763D	p.G2972D	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	9096	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2933					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.8915G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079615	0.55753	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84298	-1.8;-1.82;-1.83	5.65	5.65	0.86999	.	0.545334	0.16583	N	0.208096	D	0.84772	0.5546	N	0.24115	0.695	0.28722	N	0.902969	D;D	0.69078	0.997;0.995	D;P	0.65140	0.932;0.814	T	0.78534	-0.2167	10	0.87932	D	0	.	8.3211	0.32130	0.1235:0.0:0.8765:0.0	.	2763;2972	F5H7K2;E7ENI0	.;.	D	2972;2933;2763	ENSP00000219905:G2972D;ENSP00000374586:G2933D;ENSP00000442467:G2763D	ENSP00000219905:G2972D	G	+	2	0	MGA	39846487	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.929000	0.48916	2.941000	0.99782	0.655000	0.94253	GGC		0.502	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		20	26	0	0	0	1	0	20	26				
KRTAP12-1	353332	broad.mit.edu	37	21	46101907	46101907	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46101907C>T	ENST00000391617.1	-	1	171	c.132G>A	c.(130-132)gtG>gtA	p.V44V	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	44	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						CGGGCACACACACGGCTGGCT	0.682																																						ENST00000391617.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(130-132)gtG>gtA		keratin associated protein 12-1							70.0	82.0	78.0					21																	46101907		2190	4280	6470	SO:0001819	synonymous_variant	353332					keratin filament		g.chr21:46101907C>T	AJ566388	CCDS42966.1	21q22.3	2006-03-13			ENSG00000187175	ENSG00000187175		"""Keratin associated proteins"""	20529	protein-coding gene	gene with protein product							Standard	NM_181686		Approved	KRTAP12.1, KAP12.1	uc002zfv.3	P59990	OTTHUMG00000057639	ENST00000391617.1:c.132G>A	21.37:g.46101907C>T						TSPEAR_ENST00000323084.4_Intron	p.V44V	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN			1	171	-			44			14 X 5 AA approximate repeats.		Q0VAS3	Silent	SNP	ENST00000391617.1	37	c.132G>A	CCDS42966.1																																																																																				0.682	KRTAP12-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128043.1	NM_181686		7	122	0	0	0	1	0	7	122				
TTBK2	146057	broad.mit.edu	37	15	43044874	43044874	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:43044874C>T	ENST00000267890.6	-	14	2678	c.2570G>A	c.(2569-2571)aGa>aAa	p.R857K		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	857					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTCAATGTCTCTGGAAGAAAT	0.378																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2569-2571)aGa>aAa		tau tubulin kinase 2							79.0	73.0	74.0					15																	43044874		1836	4106	5942	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044874C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2570G>A	15.37:g.43044874C>T	ENSP00000267890:p.Arg857Lys						p.R857K	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2678	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	857					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.2570G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482120	0.26598	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39229	1.09	5.87	-2.2	0.06994	.	0.566072	0.17660	N	0.166373	T	0.22513	0.0543	N	0.22421	0.69	0.37757	D	0.926189	B;B	0.14438	0.01;0.006	B;B	0.18561	0.022;0.014	T	0.03863	-1.0997	10	0.32370	T	0.25	.	6.2201	0.20677	0.0:0.3957:0.2153:0.389	.	788;857	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	K	857;787;1262	ENSP00000267890:R857K	ENSP00000263802:R1262K	R	-	2	0	TTBK2	40832166	0.256000	0.24012	0.594000	0.28785	0.827000	0.46813	-0.313000	0.08103	-0.383000	0.07858	0.655000	0.94253	AGA		0.378	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		32	77	0	0	0	1	0	32	77				
TCF7L2	6934	broad.mit.edu	37	10	114925464	114925464	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:114925464C>T	ENST00000355995.4	+	15	2100	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000542695.1_Silent_p.T247T|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.T508T|TCF7L2_ENST00000545257.1_Silent_p.T531T|TCF7L2_ENST00000536810.1_Silent_p.T514T|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.T514T			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	531					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTGAGCAGACCCAGCCTCTGT	0.662			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1591-1593)acC>acT		transcription factor 7-like 2 (T-cell specific, HMG-box)							70.0	78.0	75.0					10																	114925464		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925464C>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1593C>T	10.37:g.114925464C>T						TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.T514T|TCF7L2_ENST00000369397.4_Silent_p.T508T|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.T514T|TCF7L2_ENST00000542695.1_Silent_p.T247T|TCF7L2_ENST00000545257.1_Silent_p.T531T	p.T531T			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	15	2100	+		Breast(234;0.058)|Colorectal(252;0.0615)	531					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.1593C>T																																																																																					0.662	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		9	95	0	0	0	1	0	9	95				
EPHA8	2046	broad.mit.edu	37	1	22924319	22924319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22924319C>T	ENST00000166244.3	+	11	2153	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	694	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCGACCATCCCAACATCATC	0.647																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2080-2082)cCc>cTc		EPH receptor A8							96.0	96.0	96.0					1																	22924319		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924319C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2081C>T	1.37:g.22924319C>T	ENSP00000166244:p.Pro694Leu						p.P694L	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	2153	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	694			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2081C>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795438	0.90453	.	.	ENSG00000070886	ENST00000166244	T	0.68903	-0.36	4.56	4.56	0.56223	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88894	0.3348	10	0.87932	D	0	.	16.0699	0.80919	0.0:1.0:0.0:0.0	.	694	P29322	EPHA8_HUMAN	L	694	ENSP00000166244:P694L	ENSP00000166244:P694L	P	+	2	0	EPHA8	22796906	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.914000	0.69964	2.365000	0.80145	0.462000	0.41574	CCC		0.647	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		24	53	0	0	0	1	0	24	53				
SH3BP4	23677	broad.mit.edu	37	2	235949825	235949825	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:235949825G>A	ENST00000409212.1	+	4	919	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	138					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGTAGCCAAGGAGCTGGAGCT	0.507																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(412-414)Gag>Aag		SH3-domain binding protein 4							86.0	85.0	85.0					2																	235949825		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235949825G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.412G>A	2.37:g.235949825G>A	ENSP00000386862:p.Glu138Lys					SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K	p.E138K			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	919	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	138					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.412G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080730	0.76528	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T	0.34275	2.74;2.74;2.74;1.37	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.977;0.977	T	0.49485	-0.8935	10	0.54805	T	0.06	-0.3903	17.7288	0.88371	0.0:0.0:1.0:0.0	.	138;138	A8K594;Q9P0V3	.;SH3B4_HUMAN	K	138	ENSP00000375867:E138K;ENSP00000386862:E138K;ENSP00000340237:E138K;ENSP00000415391:E138K	ENSP00000340237:E138K	E	+	1	0	SH3BP4	235614564	1.000000	0.71417	0.953000	0.39169	0.031000	0.12232	9.549000	0.98106	2.519000	0.84933	0.655000	0.94253	GAG		0.507	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			25	49	0	0	0	1	0	25	49				
HBP1	26959	broad.mit.edu	37	7	106830743	106830743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:106830743G>A	ENST00000222574.4	+	8	1234	c.1048G>A	c.(1048-1050)Gtt>Att	p.V350I	CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000485846.1_Missense_Mutation_p.V350I|HBP1_ENST00000468410.1_Missense_Mutation_p.V350I|HBP1_ENST00000461963.1_Intron	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	350					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGATTCAGGTGTTTTTGATAC	0.358																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(1048-1050)Gtt>Att		HMG-box transcription factor 1							170.0	159.0	163.0					7																	106830743		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106830743G>A	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1048G>A	7.37:g.106830743G>A	ENSP00000222574:p.Val350Ile					HBP1_ENST00000461963.1_Intron|HBP1_ENST00000468410.1_Missense_Mutation_p.V350I|HBP1_ENST00000485846.1_Missense_Mutation_p.V350I	p.V350I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			8	1234	+			350					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.1048G>A	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000304	0.93227	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99329	-5.75;-5.75;-5.75	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	L	0.32530	0.975	0.58432	D	0.999998	D;D;D	0.76494	0.984;0.999;0.999	D;D;D	0.80764	0.967;0.994;0.987	D	0.99936	1.1362	10	0.87932	D	0	-22.3595	19.1082	0.93305	0.0:0.0:1.0:0.0	.	360;350;350	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	I	350;350;350;342	ENSP00000420500:V350I;ENSP00000222574:V350I;ENSP00000418738:V350I	ENSP00000222574:V350I	V	+	1	0	HBP1	106617979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.524000	0.85096	0.561000	0.74099	GTT		0.358	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		5	227	0	0	0	1	0	5	227				
PCDHGA12	26025	broad.mit.edu	37	5	140812644	140812644	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140812644C>T	ENST00000252085.3	+	1	2460	c.2318C>T	c.(2317-2319)cCc>cTc	p.P773L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	773					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCCCAGCCCAACTATGCA	0.537																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(2317-2319)cCc>cTc									111.0	115.0	114.0					5																	140812644		2203	4300	6503	SO:0001583	missense	0							g.chr5:140812644C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2318C>T	5.37:g.140812644C>T	ENSP00000252085:p.Pro773Leu					PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.P773L	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2460	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.2318C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468847	0.63625	.	.	ENSG00000253159	ENST00000252085	T	0.51071	0.72	5.23	5.23	0.72850	.	.	.	.	.	T	0.69833	0.3155	M	0.89353	3.025	0.32601	N	0.525965	D;D	0.69078	0.995;0.997	D;D	0.64776	0.929;0.91	T	0.78959	-0.1998	9	0.59425	D	0.04	.	11.1841	0.48646	0.1266:0.6775:0.1959:0.0	.	773;773	O60330-2;O60330	.;PCDGC_HUMAN	L	773	ENSP00000252085:P773L	ENSP00000252085:P773L	P	+	2	0	PCDHGA12	140792828	0.955000	0.32602	1.000000	0.80357	0.568000	0.35870	6.088000	0.71371	2.588000	0.87417	0.655000	0.94253	CCC		0.537	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		15	211	0	0	0	1	0	15	211				
WNK1	65125	broad.mit.edu	37	12	978109	978109	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:978109G>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000537687.1_Missense_Mutation_p.A1073T|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.A1158T|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.A372T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACAGGGGGAGCAGCTGCACC	0.493																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(3217-3219)Gca>Aca		WNK lysine deficient protein kinase 1							207.0	203.0	204.0					12																	978109		1907	4122	6029	SO:0001627	intron_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:978109G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2322G>A	12.37:g.978109G>A						WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.A1158T|WNK1_ENST00000574564.1_Missense_Mutation_p.A372T	p.A1073T	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		9	3860	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		823					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3217G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	0.831	-0.745111	0.03065	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.18016	2.24;2.24	6.03	-1.62	0.08372	.	.	.	.	.	T	0.05135	0.0137	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44620	-0.9316	8	0.02654	T	1	.	3.7583	0.08593	0.3273:0.1536:0.4306:0.0885	.	1158	F5H2M7	.	T	1073;1158	ENSP00000444465:A1073T;ENSP00000433548:A1158T	ENSP00000433548:A1158T	A	+	1	0	WNK1	848370	0.694000	0.27738	0.997000	0.53966	0.974000	0.67602	-0.308000	0.08156	0.019000	0.15079	0.557000	0.71058	GCA		0.493	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		11	350	0	0	0	1	0	11	350				
CYP39A1	51302	broad.mit.edu	37	6	46554885	46554885	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:46554885T>C	ENST00000275016.2	-	10	1382	c.1179A>G	c.(1177-1179)gcA>gcG	p.A393A	CYP39A1_ENST00000489657.1_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	393					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TCTCTAAATTTGCCTTTTTCC	0.398																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1177-1179)gcA>gcG		cytochrome P450, family 39, subfamily A, polypeptide 1							81.0	73.0	76.0					6																	46554885		2203	4300	6503	SO:0001819	synonymous_variant	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46554885T>C	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1179A>G	6.37:g.46554885T>C							p.A393A	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			10	1382	-			393					Q5VTT0|Q96FW5	Silent	SNP	ENST00000275016.2	37	c.1179A>G	CCDS4916.1																																																																																				0.398	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			3	13	0	0	0	1	0	3	13				
SMC1B	27127	broad.mit.edu	37	22	45789686	45789686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:45789686G>A	ENST00000357450.4	-	9	1372	c.1373C>T	c.(1372-1374)aCc>aTc	p.T458I	SMC1B_ENST00000404354.3_Missense_Mutation_p.T458I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	458					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCCACTAGGGTTTCCTCTTG	0.308																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1372-1374)aCc>aTc		structural maintenance of chromosomes 1B							65.0	58.0	60.0					22																	45789686		1821	4071	5892	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45789686G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1373C>T	22.37:g.45789686G>A	ENSP00000350036:p.Thr458Ile					SMC1B_ENST00000404354.3_Missense_Mutation_p.T458I	p.T458I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	9	1372	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	458					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1373C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023346	0.19433	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.03468	3.92;3.92	6.07	-1.62	0.08372	RecF/RecN/SMC (1);	0.832691	0.10749	N	0.638588	T	0.02230	0.0069	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.13407	0.009;0.005;0.003	T	0.44143	-0.9347	10	0.48119	T	0.1	.	4.6951	0.12800	0.3653:0.0:0.3341:0.3006	.	458;458;458	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	I	458	ENSP00000350036:T458I;ENSP00000385902:T458I	ENSP00000350036:T458I	T	-	2	0	SMC1B	44168350	0.000000	0.05858	0.021000	0.16686	0.792000	0.44763	-0.773000	0.04689	-0.375000	0.07955	0.585000	0.79938	ACC		0.308	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		7	42	0	0	0	1	0	7	42				
FMO3	2328	broad.mit.edu	37	1	171080128	171080128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:171080128C>T	ENST00000367755.4	+	6	928	c.817C>T	c.(817-819)Cct>Tct	p.P273S	FMO3_ENST00000542847.1_Missense_Mutation_p.P253S|FMO3_ENST00000538429.1_Missense_Mutation_p.P210S|FMO3_ENST00000392085.2_Missense_Mutation_p.P273S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	273					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGCTTGATGCCTTTAAATGG	0.418																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(817-819)Cct>Tct		flavin containing monooxygenase 3							112.0	102.0	105.0					1																	171080128		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171080128C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.817C>T	1.37:g.171080128C>T	ENSP00000356729:p.Pro273Ser					FMO3_ENST00000392085.2_Missense_Mutation_p.P273S|FMO3_ENST00000542847.1_Missense_Mutation_p.P253S|FMO3_ENST00000538429.1_Missense_Mutation_p.P210S	p.P273S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			6	928	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		273					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.817C>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064981	0.76187	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	M	0.64260	1.97	0.58432	D	0.999992	P;P;P	0.45986	0.87;0.648;0.698	P;B;P	0.48524	0.453;0.444;0.58	T	0.53401	-0.8444	10	0.56958	D	0.05	-11.6516	12.8285	0.57733	0.0:0.9193:0.0:0.0807	.	210;253;273	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	S	273;273;253;210	ENSP00000356729:P273S;ENSP00000375935:P273S;ENSP00000444073:P253S;ENSP00000439500:P210S	ENSP00000356729:P273S	P	+	1	0	FMO3	169346752	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.497000	0.53295	2.563000	0.86464	0.650000	0.86243	CCT		0.418	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		27	59	0	0	0	1	0	27	59				
ZNF227	7770	broad.mit.edu	37	19	44740466	44740466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44740466G>A	ENST00000313040.7	+	6	2088	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	ZNF227_ENST00000391961.2_Missense_Mutation_p.G577E|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Missense_Mutation_p.G577E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GTCCATACTGGAGAGAAGCCA	0.463																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(1882-1884)gGa>gAa		zinc finger protein 227							64.0	65.0	65.0					19																	44740466		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740466G>A	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1883G>A	19.37:g.44740466G>A	ENSP00000321049:p.Gly628Glu					ZNF227_ENST00000391961.2_Missense_Mutation_p.G577E|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Missense_Mutation_p.G577E	p.G628E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	2088	+		Prostate(69;0.0435)	628					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.1883G>A	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337239	0.81911	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.25749	1.78;1.78	4.31	4.31	0.51392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40670	0.1126	L	0.33753	1.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.36696	-0.9737	9	0.66056	D	0.02	.	15.9438	0.79779	0.0:0.0:1.0:0.0	.	549;607;580;628	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	E	628;585;577;607;267	ENSP00000321049:G628E;ENSP00000375823:G577E	ENSP00000321049:G628E	G	+	2	0	ZNF227	49432306	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.823000	0.48081	2.115000	0.64714	0.557000	0.71058	GGA		0.463	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		6	92	0	0	0	1	0	6	92				
ZNF37A	7587	broad.mit.edu	37	10	38407635	38407635	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:38407635G>A	ENST00000361085.5	+	7	1901	c.1556G>A	c.(1555-1557)gGg>gAg	p.G519E	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G519E	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ACACACACAGGGGAGAAACCC	0.358																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1555-1557)gGg>gAg		zinc finger protein 37A							60.0	60.0	60.0					10																	38407635		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407635G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1556G>A	10.37:g.38407635G>A	ENSP00000354377:p.Gly519Glu					ZNF37A_ENST00000361085.4_Missense_Mutation_p.G519E	p.G519E	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	2386	+			519					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1556G>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654408	0.29425	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.01599	4.74;4.74	2.24	0.557	0.17260	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	0.29880	N	0.826089	B	0.28400	0.21	B	0.28638	0.092	T	0.26985	-1.0087	9	0.62326	D	0.03	.	5.7168	0.17964	0.3098:0.0:0.6902:0.0	.	519	P17032	ZN37A_HUMAN	E	519	ENSP00000329141:G519E;ENSP00000354377:G519E	ENSP00000329141:G519E	G	+	2	0	ZNF37A	38447641	0.889000	0.30405	0.991000	0.47740	0.968000	0.65278	1.730000	0.38125	0.277000	0.22141	0.591000	0.81541	GGG		0.358	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		18	21	0	0	0	1	0	18	21				
PML	5371	broad.mit.edu	37	15	74335461	74335461	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74335461C>T	ENST00000268058.3	+	8	1938	c.1842C>T	c.(1840-1842)gaC>gaT	p.D614D	PML_ENST00000569965.1_3'UTR|PML_ENST00000395135.3_Silent_p.D614D|PML_ENST00000565898.1_Silent_p.D566D|PML_ENST00000359928.4_3'UTR|PML_ENST00000564428.1_Silent_p.D566D	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	614					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TTTTCTTTGACCTCAAGATTG	0.542			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1696-1698)gaC>gaT		promyelocytic leukemia							114.0	108.0	110.0					15																	74335461		2198	4297	6495	SO:0001819	synonymous_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74335461C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1842C>T	15.37:g.74335461C>T						PML_ENST00000268058.3_Silent_p.D614D|PML_ENST00000395135.3_Silent_p.D614D|PML_ENST00000359928.4_3'UTR|PML_ENST00000569965.1_3'UTR|PML_ENST00000564428.1_Silent_p.D566D	p.D566D			P29590	PML_HUMAN			7	1782	+			614					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.1698C>T	CCDS10255.1																																																																																				0.542	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		4	90	0	0	0	1	0	4	90				
ITCH	83737	broad.mit.edu	37	20	33026433	33026433	+	Missense_Mutation	SNP	C	C	T	rs561908911		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33026433C>T	ENST00000262650.6	+	9	935	c.799C>T	c.(799-801)Cca>Tca	p.P267S	ITCH_ENST00000374864.4_Missense_Mutation_p.P226S|ITCH_ENST00000535650.1_Missense_Mutation_p.P116S|ITCH-AS1_ENST00000454205.1_RNA			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	267	Arg/Pro-rich (PRR domain).				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CCCACGTAGACCAGGTTTGTA	0.438																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(676-678)Cca>Tca		itchy E3 ubiquitin protein ligase							138.0	123.0	128.0					20																	33026433		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33026433C>T	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.799C>T	20.37:g.33026433C>T	ENSP00000262650:p.Pro267Ser					ITCH_ENST00000262650.6_Missense_Mutation_p.P267S|ITCH_ENST00000535650.1_Missense_Mutation_p.P116S	p.P226S	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			8	889	+			267					A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.676C>T	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211010	0.39102	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.31510	1.49;1.54;1.94	5.4	5.4	0.78164	.	0.342323	0.29972	N	0.010733	T	0.41696	0.1170	L	0.32530	0.975	0.80722	D	1	D;P;B	0.63880	0.993;0.757;0.021	D;B;B	0.70227	0.968;0.293;0.012	T	0.06826	-1.0805	10	0.10377	T	0.69	.	16.9525	0.86249	0.0:1.0:0.0:0.0	.	178;267;226	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	S	226;116;267	ENSP00000363998:P226S;ENSP00000445608:P116S;ENSP00000262650:P267S	ENSP00000262650:P267S	P	+	1	0	ITCH	32490094	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.730000	0.62015	2.526000	0.85167	0.655000	0.94253	CCA		0.438	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			23	66	0	0	0	1	0	23	66				
NUP160	23279	broad.mit.edu	37	11	47840985	47840985	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47840985C>T	ENST00000378460.2	-	10	1349	c.1303G>A	c.(1303-1305)Gtt>Att	p.V435I	NUP160_ENST00000528071.1_Missense_Mutation_p.V321I|NUP160_ENST00000528501.1_5'UTR|Y_RNA_ENST00000517065.1_RNA|NUP160_ENST00000530326.1_Missense_Mutation_p.V321I	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	435					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGCATAAAAACTGGATTCCAC	0.383																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(1303-1305)Gtt>Att		nucleoporin 160kDa							134.0	139.0	137.0					11																	47840985		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47840985C>T	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1303G>A	11.37:g.47840985C>T	ENSP00000367721:p.Val435Ile					NUP160_ENST00000530326.1_Missense_Mutation_p.V321I|NUP160_ENST00000528501.1_5'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.V321I	p.V435I	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			10	1349	-			435					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.1303G>A	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468012	0.96257	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.42513	0.97;0.97;0.97	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62742	-0.6790	10	0.42905	T	0.14	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	435	Q12769	NU160_HUMAN	I	435;225;321;321	ENSP00000367721:V435I;ENSP00000433590:V321I;ENSP00000432367:V321I	ENSP00000367721:V435I	V	-	1	0	NUP160	47797561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.809000	0.75211	2.773000	0.95371	0.655000	0.94253	GTT		0.383	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		7	128	0	0	0	1	0	7	128				
ANKRD52	283373	broad.mit.edu	37	12	56647968	56647968	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56647968G>A	ENST00000267116.7	-	8	910	c.789C>T	c.(787-789)gcC>gcT	p.A263A		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	263										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGTTGACATTGGCTCCGGCAT	0.542																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(787-789)gcC>gcT		ankyrin repeat domain 52							137.0	157.0	150.0					12																	56647968		2110	4253	6363	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56647968G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.789C>T	12.37:g.56647968G>A							p.A263A	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			8	910	-			263					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.789C>T	CCDS44920.1																																																																																				0.542	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		41	97	0	0	0	1	0	41	97				
LIN52	91750	broad.mit.edu	37	14	74562687	74562687	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:74562687G>A	ENST00000555028.1	+	3	310	c.143G>A	c.(142-144)aGt>aAt	p.S48N	LIN52_ENST00000554076.1_3'UTR	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 DREAM MuvB core complex component	48					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	DRM complex (GO:0070176)|nucleoplasm (GO:0005654)				breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		TCCTTCAAAAGTGTAAGTAAT	0.328																																						ENST00000555028.1																			0				breast(1)|endometrium(2)|lung(2)	5						c.e3+1		lin-52 homolog (C. elegans)							64.0	58.0	60.0					14																	74562687		2203	4300	6503	SO:0001630	splice_region_variant	91750							g.chr14:74562687G>A	AK023979	CCDS32120.1	14q24.2	2014-07-17	2014-07-17	2007-01-03	ENSG00000205659	ENSG00000205659			19856	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 46"", ""lin-52 homolog (C. elegans)"""	C14orf46		17075059, 21498570	Standard	NM_001024674		Approved		uc001xpp.2	Q52LA3	OTTHUMG00000171204	ENST00000555028.1:c.144+1G>A	14.37:g.74562687G>A						LIN52_ENST00000554076.1_3'UTR	p.S48_splice	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)	3	310	+			48						Splice_Site	SNP	ENST00000555028.1	37	c.144_splice	CCDS32120.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077644	0.36662	.	.	ENSG00000205659	ENST00000555028;ENST00000381098;ENST00000554938	.	.	.	5.73	5.73	0.89815	.	0.044395	0.85682	D	0.000000	T	0.34308	0.0893	N	0.02802	-0.49	0.38863	D	0.956535	B	0.15719	0.014	B	0.20184	0.028	T	0.30268	-0.9984	9	0.14252	T	0.57	-6.1876	16.8024	0.85617	0.0:0.0:1.0:0.0	.	48	Q52LA3	LIN52_HUMAN	N	80;48;54	.	ENSP00000370488:S48N	S	+	2	0	LIN52	73632440	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.969000	0.63735	2.709000	0.92574	0.491000	0.48974	AGT		0.328	LIN52-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412316.2		Missense_Mutation	8	17	0	0	0	1	0	8	17				
HNRNPF	3185	broad.mit.edu	37	10	43882109	43882109	+	Silent	SNP	C	C	T	rs141846469		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:43882109C>T	ENST00000544000.1	-	4	1631	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	HNRNPF_ENST00000356053.3_Silent_p.Q408Q|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Silent_p.Q408Q|HNRNPF_ENST00000337970.3_Silent_p.Q408Q|HNRNPF_ENST00000443950.2_Silent_p.Q408Q	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	408					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCATGCTGTTCTGCCCACTGT	0.502																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(1222-1224)caG>caA		heterogeneous nuclear ribonucleoprotein F							81.0	92.0	88.0					10																	43882109		2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882109C>T		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.1224G>A	10.37:g.43882109C>T						HNRNPF_ENST00000544000.1_Silent_p.Q408Q|HNRNPF_ENST00000357065.4_Silent_p.Q408Q|HNRNPF_ENST00000356053.3_Silent_p.Q408Q|HNRNPF_ENST00000337970.3_Silent_p.Q408Q	p.Q408Q	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1710	-			408					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.1224G>A	CCDS7204.1																																																																																				0.502	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			8	155	0	0	0	1	0	8	155				
CEACAM6	4680	broad.mit.edu	37	19	42265260	42265260	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42265260C>T	ENST00000199764.6	+	3	746	c.528C>T	c.(526-528)taC>taT	p.Y176Y	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	176	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACACAACCTACCTGTGGTGGG	0.562																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(526-528)taC>taT		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							213.0	190.0	198.0					19																	42265260		2203	4300	6503	SO:0001819	synonymous_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42265260C>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.528C>T	19.37:g.42265260C>T						AC011513.4_ENST00000601409.1_RNA	p.Y176Y	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	3	746	+			176			Ig-like C2-type 1.		Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	c.528C>T	CCDS12585.1																																																																																				0.562	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			80	145	0	0	0	1	0	80	145				
MYO6	4646	broad.mit.edu	37	6	76623876	76623876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:76623876C>T	ENST00000369977.3	+	34	3675	c.3536C>T	c.(3535-3537)gCc>gTc	p.A1179V	MYO6_ENST00000369975.1_Missense_Mutation_p.A1147V|MYO6_ENST00000369985.4_Missense_Mutation_p.A1156V|MYO6_ENST00000369981.3_Missense_Mutation_p.A1180V	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1188					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)			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)		ATCCGCCCTGCCGACCAGTAC	0.522																																						ENST00000369981.3																			0				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						c.(3538-3540)gCc>gTc		myosin VI							138.0	144.0	142.0					6																	76623876		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76623876C>T	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.3536C>T	6.37:g.76623876C>T	ENSP00000358994:p.Ala1179Val					MYO6_ENST00000369985.4_Missense_Mutation_p.A1156V|MYO6_ENST00000369975.1_Missense_Mutation_p.A1147V|MYO6_ENST00000369977.3_Missense_Mutation_p.A1179V	p.A1180V			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	34	3818	+		all_hematologic(105;0.189)	1188					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3539C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290384	0.59976	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.89617	-2.49;-2.53;-2.54;-2.52	5.89	5.89	0.94794	.	0.168510	0.52532	D	0.000064	D	0.88691	0.6505	L	0.42245	1.32	0.30880	N	0.731567	B;D	0.55172	0.16;0.97	B;P	0.61201	0.037;0.885	D	0.86056	0.1529	10	0.42905	T	0.14	.	15.3943	0.74778	0.0:0.9316:0.0:0.0684	.	1156;1179	Q9UM54-2;Q9UM54-1	.;.	V	1189;1180;1156;1179;1147	ENSP00000358998:A1180V;ENSP00000359002:A1156V;ENSP00000358994:A1179V;ENSP00000358992:A1147V	ENSP00000358992:A1147V	A	+	2	0	MYO6	76680596	0.677000	0.27577	0.864000	0.33941	0.978000	0.69477	1.306000	0.33505	2.778000	0.95560	0.655000	0.94253	GCC		0.522	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		38	100	0	0	0	1	0	38	100				
PITPNM1	9600	broad.mit.edu	37	11	67263655	67263655	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:67263655G>A	ENST00000534749.1	-	14	2499	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L	PITPNM1_ENST00000356404.3_Silent_p.L771L|PITPNM1_ENST00000436757.2_Silent_p.L770L|PITPNM1_ENST00000526450.1_5'Flank			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	771	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTACCCAGCAGCAGGGATGAG	0.632																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2311-2313)Ctg>Ttg		phosphatidylinositol transfer protein, membrane-associated 1							30.0	32.0	31.0					11																	67263655		2199	4293	6492	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67263655G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2311C>T	11.37:g.67263655G>A						PITPNM1_ENST00000436757.2_Silent_p.L770L|PITPNM1_ENST00000534749.1_Silent_p.L771L	p.L771L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			15	2536	-			771			DDHD.		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2311C>T	CCDS31620.1																																																																																				0.632	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		11	22	0	0	0	1	0	11	22				
HDAC6	10013	broad.mit.edu	37	X	48672966	48672966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:48672966G>A	ENST00000334136.5	+	11	1104	c.926G>A	c.(925-927)tGg>tAg	p.W309*	HDAC6_ENST00000444343.2_Nonsense_Mutation_p.W323*|HDAC6_ENST00000413163.2_Nonsense_Mutation_p.W254*|HDAC6_ENST00000376619.2_Nonsense_Mutation_p.W309*			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	309	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|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)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AATGTGCCTTGGAACCAGGTC	0.607																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(925-927)tGg>tAg		histone deacetylase 6	Vorinostat(DB02546)						71.0	59.0	63.0					X																	48672966		2203	4300	6503	SO:0001587	stop_gained	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48672966G>A	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.926G>A	X.37:g.48672966G>A	ENSP00000334061:p.Trp309*					HDAC6_ENST00000444343.2_Nonsense_Mutation_p.W323*|HDAC6_ENST00000413163.2_Nonsense_Mutation_p.W254*|HDAC6_ENST00000376619.2_Nonsense_Mutation_p.W309*	p.W309*			Q9UBN7	HDAC6_HUMAN			11	1104	+			309			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Nonsense_Mutation	SNP	ENST00000334136.5	37	c.926G>A	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	38	6.678569	0.97755	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4929	14.8745	0.70485	0.0:0.0:1.0:0.0	.	.	.	.	X	323;309;309;309;254	.	ENSP00000334061:W309X	W	+	2	0	HDAC6	48557910	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	9.015000	0.93640	2.096000	0.63516	0.529000	0.55759	TGG		0.607	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		14	28	0	0	0	1	0	14	28				
PPP2R5C	5527	broad.mit.edu	37	14	102323223	102323223	+	Splice_Site	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:102323223G>T	ENST00000334743.5	+	2	342		c.e2+1		PPP2R5C_ENST00000557095.1_Splice_Site|PPP2R5C_ENST00000422945.2_Splice_Site|PPP2R5C_ENST00000328724.5_Splice_Site|PPP2R5C_ENST00000445439.3_Splice_Site|PPP2R5C_ENST00000350249.3_Splice_Site	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGTCCATATGGTAAGTGATTA	0.418																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.e4+1		protein phosphatase 2, regulatory subunit B', gamma							87.0	76.0	80.0					14																	102323223		2203	4300	6503	SO:0001630	splice_region_variant	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102323223G>T	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.294+1G>T	14.37:g.102323223G>T						PPP2R5C_ENST00000334743.5_Splice_Site|PPP2R5C_ENST00000328724.5_Splice_Site|PPP2R5C_ENST00000557095.1_Splice_Site|PPP2R5C_ENST00000445439.3_Splice_Site|PPP2R5C_ENST00000350249.3_Splice_Site		NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			4	483	+								B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Splice_Site	SNP	ENST00000334743.5	37		CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539154	0.85917	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8388	0.96673	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R5C	101392976	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.813000	0.99286	2.695000	0.91970	0.561000	0.74099	.		0.418	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719	Intron	23	38	1	0	1.87028e-06	1	1.87597e-06	23	38				
CLPTM1	1209	broad.mit.edu	37	19	45493688	45493688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45493688G>A	ENST00000337392.5	+	10	1318	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	CLPTM1_ENST00000541297.2_Missense_Mutation_p.G376S|CLPTM1_ENST00000546079.1_Missense_Mutation_p.G288S	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	390					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GTCCCTGGAGGGCCTGTCCGT	0.612																																						ENST00000541297.2																			0				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						c.(1126-1128)Ggc>Agc		cleft lip and palate associated transmembrane protein 1							136.0	134.0	134.0					19																	45493688		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45493688G>A	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.1168G>A	19.37:g.45493688G>A	ENSP00000336994:p.Gly390Ser					CLPTM1_ENST00000546079.1_Missense_Mutation_p.G288S|CLPTM1_ENST00000337392.5_Missense_Mutation_p.G390S	p.G376S			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	10	1591	+		all_neural(266;0.224)|Ovarian(192;0.231)	390					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1126G>A	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086930	0.94100	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.8	3.77	0.43336	.	0.054624	0.64402	D	0.000001	D	0.84889	0.5572	H	0.94964	3.605	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	D	0.87248	0.2271	9	0.62326	D	0.03	-28.5492	10.8915	0.46998	0.0919:0.0:0.9081:0.0	.	376;390	F5H8J3;O96005	.;CLPT1_HUMAN	S	288;376;390;390	.	ENSP00000336994:G390S	G	+	1	0	CLPTM1	50185528	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.137000	0.77295	1.272000	0.44329	0.485000	0.47835	GGC		0.612	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		10	200	0	0	0	1	0	10	200				
PLOD2	5352	broad.mit.edu	37	3	145788507	145788507	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:145788507G>A	ENST00000360060.3	-	19	2388	c.2211C>T	c.(2209-2211)ccC>ccT	p.P737P	PLOD2_ENST00000461497.1_Silent_p.P418P|PLOD2_ENST00000494950.1_Silent_p.P703P|RP11-274H2.2_ENST00000494745.2_RNA|RP11-274H2.2_ENST00000480247.1_RNA|RP11-274H2.3_ENST00000490375.1_RNA|PLOD2_ENST00000282903.5_Silent_p.P758P	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	737	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AAATAACTTAGGGATCTATAA	0.368																																						ENST00000282903.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2272-2274)ccC>ccT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	Vitamin C(DB00126)						57.0	58.0	58.0					3																	145788507		2202	4300	6502	SO:0001819	synonymous_variant	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145788507G>A	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.2211C>T	3.37:g.145788507G>A						PLOD2_ENST00000360060.3_Silent_p.P737P|PLOD2_ENST00000461497.1_Silent_p.P418P|PLOD2_ENST00000494950.1_Silent_p.P703P|RP11-274H2.2_ENST00000480247.1_RNA	p.P758P	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN			20	2451	-			737					B3KWS3|Q59ED2|Q8N170	Silent	SNP	ENST00000360060.3	37	c.2274C>T	CCDS3131.1																																																																																				0.368	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		14	9	0	0	0	1	0	14	9				
TENM2	57451	broad.mit.edu	37	5	167645350	167645350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:167645350C>T	ENST00000518659.1	+	23	4493	c.4454C>T	c.(4453-4455)aCt>aTt	p.T1485I	TENM2_ENST00000519204.1_Missense_Mutation_p.T1364I|TENM2_ENST00000545108.1_Missense_Mutation_p.T1484I|TENM2_ENST00000520394.1_Missense_Mutation_p.T1246I|TENM2_ENST00000403607.2_Missense_Mutation_p.T1309I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1485					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ATTTCTCACACTGGGGTCCTC	0.537																																						ENST00000519204.1																			0											c.(4090-4092)aCt>aTt		teneurin transmembrane protein 2							160.0	164.0	163.0					5																	167645350		2192	4286	6478	SO:0001583	missense	57451							g.chr5:167645350C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4454C>T	5.37:g.167645350C>T	ENSP00000429430:p.Thr1485Ile					TENM2_ENST00000403607.2_Missense_Mutation_p.T1309I|TENM2_ENST00000545108.1_Missense_Mutation_p.T1484I|TENM2_ENST00000518659.1_Missense_Mutation_p.T1485I|TENM2_ENST00000520394.1_Missense_Mutation_p.T1246I	p.T1364I							22	4209	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4091C>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.333529	0.81801	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;D;T;T;T	0.90504	1.53;-2.68;1.53;1.53;1.53	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.089238	0.85682	D	0.000000	D	0.91915	0.7440	L	0.39898	1.24	0.80722	D	1	D;P;D	0.57571	0.979;0.885;0.98	P;B;P	0.55871	0.786;0.391;0.731	D	0.90998	0.4840	10	0.41790	T	0.15	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	1484;1485;1246	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	1485;1484;1364;1246;1309	ENSP00000429430:T1485I;ENSP00000438635:T1484I;ENSP00000428964:T1364I;ENSP00000427874:T1246I;ENSP00000384905:T1309I	ENSP00000384905:T1309I	T	+	2	0	ODZ2	167577928	1.000000	0.71417	0.963000	0.40424	0.990000	0.78478	5.975000	0.70475	2.709000	0.92574	0.655000	0.94253	ACT		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		31	28	0	0	0	1	0	31	28				
PHEX	5251	broad.mit.edu	37	X	22117214	22117214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:22117214C>T	ENST00000379374.4	+	9	1589	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	PHEX_ENST00000535894.1_Missense_Mutation_p.R245C|PHEX_ENST00000418858.3_Missense_Mutation_p.R45C|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.R342C	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	342					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R342C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGTGGTGGTCCGCGTCCCGCA	0.453													C|||	1	0.000264901	0.0	0.0014	3775	,	,		11913	0.0		0.0	False		,,,				2504	0.0					ENST00000379374.4																			1	Substitution - Missense(1)	p.R342C(1)	skin(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1024-1026)Cgc>Tgc		phosphate regulating endopeptidase homolog, X-linked							121.0	110.0	114.0					X																	22117214		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22117214C>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1024C>T	X.37:g.22117214C>T	ENSP00000368682:p.Arg342Cys					PHEX_ENST00000418858.3_Missense_Mutation_p.R45C|PHEX_ENST00000535894.1_Missense_Mutation_p.R245C|PHEX_ENST00000537599.1_Missense_Mutation_p.R342C|PHEX_ENST00000475778.1_3'UTR	p.R342C	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			9	1589	+			342					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1024C>T	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626043	0.87560	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.46	5.46	0.80206	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.967;0.981	T	0.80883	-0.1183	10	0.42905	T	0.14	.	18.3837	0.90459	0.0:1.0:0.0:0.0	.	342;342	F5GXU4;P78562	.;PHEX_HUMAN	C	342;342;245;45	ENSP00000368682:R342C;ENSP00000440362:R342C;ENSP00000439418:R245C;ENSP00000443531:R45C	ENSP00000368682:R342C	R	+	1	0	PHEX	22027135	1.000000	0.71417	0.951000	0.38953	0.942000	0.58702	4.353000	0.59411	2.282000	0.76494	0.529000	0.55759	CGC		0.453	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		8	113	0	0	0	1	0	8	113				
LOC150776	150776	broad.mit.edu	37	2	132274510	132274510	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:132274510C>T	ENST00000438378.2	+	0	1552					NR_026922.1																						ACTCCCAGCCCCGGTGTGTGT	0.637																																						ENST00000438378.2																			0																																																			0							g.chr2:132274510C>T																													2.37:g.132274510C>T								NR_026922.1						0	1552	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.637	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			13	34	0	0	0	1	0	13	34				
CUX1	1523	broad.mit.edu	37	7	101877407	101877407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:101877407C>T	ENST00000292535.7	+	22	3547	c.3509C>T	c.(3508-3510)cCc>cTc	p.P1170L	CUX1_ENST00000556210.1_Missense_Mutation_p.P1012L|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P1148L|CUX1_ENST00000360264.3_Missense_Mutation_p.P1181L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P1114L|CUX1_ENST00000546411.2_Missense_Mutation_p.P1068L|CUX1_ENST00000425244.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1170					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)			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						CGCCCCAAACCCTGGCATAAG	0.552																																						ENST00000360264.3																			0				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						c.(3541-3543)cCc>cTc		cut-like homeobox 1							98.0	91.0	93.0					7																	101877407		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101877407C>T	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.3509C>T	7.37:g.101877407C>T	ENSP00000292535:p.Pro1170Leu					CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P1148L|CUX1_ENST00000550008.2_Missense_Mutation_p.P1114L|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P1068L|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P1170L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P1012L|CUX1_ENST00000393824.3_Intron	p.P1181L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			22	3562	+			1170					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3542C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104413	0.94245	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.68025	-0.26;-0.27;-0.28;-0.3;-0.27;-0.28	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.84401	0.5464	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.86863	0.2031	10	0.87932	D	0	-22.0917	19.0082	0.92861	0.0:1.0:0.0:0.0	.	1170;1181	P39880;P39880-3	CUX1_HUMAN;.	L	1181;1170;1148;1114;1068;1012	ENSP00000353401:P1181L;ENSP00000292535:P1170L;ENSP00000446630:P1148L;ENSP00000447373:P1114L;ENSP00000450125:P1068L;ENSP00000451558:P1012L	ENSP00000292535:P1170L	P	+	2	0	CUX1	101664127	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.814000	0.86154	2.486000	0.83907	0.655000	0.94253	CCC		0.552	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		21	65	0	0	0	1	0	21	65				
CNGB3	54714	broad.mit.edu	37	8	87590975	87590975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:87590975C>T	ENST00000320005.5	-	17	2092	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	682					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTTCCTGTGCCTCCTAGGAG	0.493																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(2044-2046)gGc>gAc		cyclic nucleotide gated channel beta 3							169.0	158.0	162.0					8																	87590975		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87590975C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2045G>A	8.37:g.87590975C>T	ENSP00000316605:p.Gly682Asp						p.G682D	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			17	2092	-			682					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.2045G>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	9.659	1.143561	0.21205	.	.	ENSG00000170289	ENST00000517327;ENST00000320005	T;T	0.77489	-1.1;0.15	5.34	4.45	0.53987	.	0.637827	0.14922	N	0.290583	T	0.70919	0.3279	L	0.29908	0.895	0.09310	N	1	B;B	0.32693	0.38;0.262	P;B	0.44597	0.454;0.266	T	0.58847	-0.7564	10	0.11182	T	0.66	.	9.0211	0.36200	0.0:0.6504:0.2721:0.0775	.	677;682	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	D	73;682	ENSP00000428329:G73D;ENSP00000316605:G682D	ENSP00000316605:G682D	G	-	2	0	CNGB3	87660091	0.003000	0.15002	0.002000	0.10522	0.250000	0.25880	1.166000	0.31834	1.225000	0.43566	0.467000	0.42956	GGC		0.493	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		26	57	0	0	0	1	0	26	57				
PVRL4	81607	broad.mit.edu	37	1	161049461	161049461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161049461C>T	ENST00000368012.3	-	2	660	c.358G>A	c.(358-360)Gcg>Acg	p.A120T		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	120	Ig-like V-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCTCATCCGCCTGCACTGCG	0.716																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(358-360)Gcg>Acg		poliovirus receptor-related 4							16.0	18.0	17.0					1																	161049461		2185	4280	6465	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161049461C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.358G>A	1.37:g.161049461C>T	ENSP00000356991:p.Ala120Thr						p.A120T	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		2	660	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		120			Ig-like V-type 1.		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.358G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503546	0.85176	.	.	ENSG00000143217	ENST00000368012	T	0.74421	-0.84	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.69895	0.3162	L	0.35487	1.065	0.80722	D	1	D	0.61697	0.99	P	0.61722	0.893	T	0.69555	-0.5114	10	0.34782	T	0.22	.	12.91	0.58175	0.0:0.8369:0.1631:0.0	.	120	Q96NY8	PVRL4_HUMAN	T	120	ENSP00000356991:A120T	ENSP00000356991:A120T	A	-	1	0	PVRL4	159316085	1.000000	0.71417	0.984000	0.44739	0.872000	0.50106	3.079000	0.50104	2.654000	0.90174	0.650000	0.86243	GCG		0.716	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		5	42	0	0	0	1	0	5	42				
VIPAS39	63894	broad.mit.edu	37	14	77908932	77908932	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:77908932C>T	ENST00000553888.1	-	10	1215	c.705G>A	c.(703-705)ggG>ggA	p.G235G	VIPAS39_ENST00000343765.2_Silent_p.G235G|VIPAS39_ENST00000448935.2_Silent_p.G186G|VIPAS39_ENST00000556412.1_Silent_p.G261G|VIPAS39_ENST00000327028.4_Silent_p.G222G|VIPAS39_ENST00000557658.1_Silent_p.G235G	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	235					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											ACTTTTGATCCCCTATTTCCT	0.428																																						ENST00000553888.1																			0											c.(703-705)ggG>ggA		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							173.0	176.0	175.0					14																	77908932		2203	4300	6503	SO:0001819	synonymous_variant	63894							g.chr14:77908932C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.705G>A	14.37:g.77908932C>T						VIPAS39_ENST00000327028.4_Silent_p.G222G|VIPAS39_ENST00000343765.2_Silent_p.G235G|VIPAS39_ENST00000556412.1_Silent_p.G261G|VIPAS39_ENST00000448935.2_Silent_p.G186G|VIPAS39_ENST00000557658.1_Silent_p.G235G	p.G235G	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					10	1215	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Silent	SNP	ENST00000553888.1	37	c.705G>A	CCDS9862.1																																																																																				0.428	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		12	152	0	0	0	1	0	12	152				
SLC24A2	25769	broad.mit.edu	37	9	19786411	19786411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:19786411C>T	ENST00000341998.2	-	1	515	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.V152I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	152					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCATCACAGACAATGGCTAAG	0.458																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(454-456)Gtc>Atc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							85.0	80.0	82.0					9																	19786411		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786411C>T	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.454G>A	9.37:g.19786411C>T	ENSP00000344801:p.Val152Ile					SLC24A2_ENST00000286344.3_Missense_Mutation_p.V152I	p.V152I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	515	-			152					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.454G>A	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435733	0.83885	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.63417	-0.04;-0.04	5.76	5.76	0.90799	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	0.985;1.0	D;D	0.87578	0.921;0.998	T	0.72600	-0.4244	9	.	.	.	.	19.967	0.97274	0.0:1.0:0.0:0.0	.	152;152	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	I	152	ENSP00000344801:V152I;ENSP00000286344:V152I	.	V	-	1	0	SLC24A2	19776411	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.814000	0.86154	2.714000	0.92807	0.655000	0.94253	GTC		0.458	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		9	87	0	0	0	1	0	9	87				
PPOX	5498	broad.mit.edu	37	1	161139493	161139493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161139493G>A	ENST00000367999.4	+	8	1117	c.851G>A	c.(850-852)aGt>aAt	p.S284N	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.S284N|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	284					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACGTTATTAGTGCCATTCCA	0.478																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	GRCh37	CM024483	PPOX	M		c.(850-852)aGt>aAt		protoporphyrinogen oxidase							138.0	118.0	125.0					1																	161139493		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161139493G>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.851G>A	1.37:g.161139493G>A	ENSP00000356978:p.Ser284Asn					PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.S284N|PPOX_ENST00000544598.1_Intron	p.S284N	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	1117	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		284					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.851G>A	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.460847|4.460847	0.84317|0.84317	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935|ENST00000537829	D;D|.	0.93076|.	-3.16;-3.16|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Amine oxidase (1);|.	0.094658|.	0.64402|.	D|.	0.000001|.	D|D	0.83308|0.83308	0.5226|0.5226	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.76071|.	0.986;0.987;0.987|.	D|D	0.86039|0.86039	0.1518|0.1518	10|5	0.62326|.	D|.	0.03|.	-4.4981|-4.4981	17.0699|17.0699	0.86570|0.86570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	251;122;284|.	B4DY76;B3KT30;P50336|.	.;.;PPOX_HUMAN|.	N|M	284;284;251|7	ENSP00000343943:S284N;ENSP00000356978:S284N|.	ENSP00000343943:S284N|.	S|V	+|+	2|1	0|0	PPOX|PPOX	159406117|159406117	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.970000|0.970000	0.65996|0.65996	5.215000|5.215000	0.65241|0.65241	2.752000|2.752000	0.94435|0.94435	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.478	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		25	43	0	0	0	1	0	25	43				
LMOD1	25802	broad.mit.edu	37	1	201868719	201868719	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201868719C>T	ENST00000367288.4	-	2	1668	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	474					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTTTGTCTCTGCTTGTCCA	0.582																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1420-1422)caG>caA		leiomodin 1 (smooth muscle)							37.0	38.0	38.0					1																	201868719		2009	4165	6174	SO:0001819	synonymous_variant	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868719C>T	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1422G>A	1.37:g.201868719C>T						RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	p.Q474Q	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	1668	-			474					B1APV6|C4AMB1|Q68EN2	Silent	SNP	ENST00000367288.4	37	c.1422G>A	CCDS53457.1																																																																																				0.582	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			5	15	0	0	0	1	0	5	15				
ZBED4	9889	broad.mit.edu	37	22	50278961	50278961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50278961G>A	ENST00000216268.5	+	2	2128	c.1651G>A	c.(1651-1653)Gtt>Att	p.V551I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	551						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		AAACAATCAAGTTATGTTTCC	0.448																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1651-1653)Gtt>Att		zinc finger, BED-type containing 4							77.0	83.0	81.0					22																	50278961		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278961G>A	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.1651G>A	22.37:g.50278961G>A	ENSP00000216268:p.Val551Ile						p.V551I	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2128	+		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)	551					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1651G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	7.685	0.689907	0.15039	.	.	ENSG00000100426	ENST00000216268	T	0.41065	1.01	5.76	5.76	0.90799	.	0.616829	0.16185	N	0.225663	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.15292	-1.0442	10	0.12430	T	0.62	-8.5417	10.0758	0.42360	0.154:0.0:0.846:0.0	.	551	O75132	ZBED4_HUMAN	I	551	ENSP00000216268:V551I	ENSP00000216268:V551I	V	+	1	0	ZBED4	48664965	0.010000	0.17322	0.007000	0.13788	0.676000	0.39594	2.127000	0.42035	2.728000	0.93425	0.591000	0.81541	GTT		0.448	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		4	106	0	0	0	1	0	4	106				
RBCK1	10616	broad.mit.edu	37	20	407964	407964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:407964C>T	ENST00000356286.5	+	9	1742	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	RBCK1_ENST00000353660.3_Missense_Mutation_p.T304I|RBCK1_ENST00000382181.2_Missense_Mutation_p.T176I	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	346					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAGCTCCTGACCCCTGAGGAT	0.532																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(1036-1038)aCc>aTc		RanBP-type and C3HC4-type zinc finger containing 1							112.0	84.0	94.0					20																	407964		2203	4300	6503	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:407964C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1037C>T	20.37:g.407964C>T	ENSP00000348632:p.Thr346Ile					RBCK1_ENST00000353660.3_Missense_Mutation_p.T304I|RBCK1_ENST00000382181.2_Missense_Mutation_p.T176I	p.T346I	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			9	1742	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	346					O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.1037C>T	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311602	0.40895	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000382181	T;T;T	0.46451	2.2;2.2;0.87	4.75	-3.03	0.05429	.	0.848153	0.10303	N	0.690908	T	0.35624	0.0938	L	0.38838	1.175	0.37178	D	0.903389	B;B;B	0.25272	0.122;0.013;0.002	B;B;B	0.21917	0.029;0.037;0.01	T	0.42582	-0.9443	10	0.59425	D	0.04	-11.3368	19.0938	0.93240	0.0:0.2043:0.7957:0.0	.	176;304;346	A6PVK0;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	I	346;304;176	ENSP00000348632:T346I;ENSP00000254960:T304I;ENSP00000371616:T176I	ENSP00000254960:T304I	T	+	2	0	RBCK1	355964	0.000000	0.05858	0.884000	0.34674	0.881000	0.50899	0.424000	0.21330	-0.226000	0.09899	-0.302000	0.09304	ACC		0.532	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		11	22	0	0	0	1	0	11	22				
PCF11	51585	broad.mit.edu	37	11	82875333	82875333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:82875333C>T	ENST00000298281.4	+	4	1044	c.592C>T	c.(592-594)Ctt>Ttt	p.L198F		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	198					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACAAAAGAATCTTACACAAGA	0.428																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(592-594)Ctt>Ttt		PCF11 cleavage and polyadenylation factor subunit							60.0	55.0	57.0					11																	82875333		1859	4088	5947	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82875333C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.592C>T	11.37:g.82875333C>T	ENSP00000298281:p.Leu198Phe						p.L198F	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			4	1044	+			198					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.592C>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932271	0.73442	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52057	1.66;0.68;0.69	5.44	4.3	0.51218	.	0.000000	0.47455	D	0.000229	T	0.56790	0.2009	L	0.54323	1.7	0.48395	D	0.999642	D;D	0.76494	0.998;0.999	P;D	0.69307	0.905;0.963	T	0.54309	-0.8313	9	.	.	.	.	7.1705	0.25717	0.0:0.8054:0.0:0.1946	.	198;198	E9PQ01;O94913	.;PCF11_HUMAN	F	198	ENSP00000298281:L198F;ENSP00000434540:L198F;ENSP00000431567:L198F	.	L	+	1	0	PCF11	82552981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.105000	0.31086	2.714000	0.92807	0.655000	0.94253	CTT		0.428	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		3	23	0	0	0	1	0	3	23				
TAF1L	138474	broad.mit.edu	37	9	32633871	32633871	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:32633871C>T	ENST00000242310.4	-	1	1796	c.1707G>A	c.(1705-1707)gaG>gaA	p.E569E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	569					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCTGTGGTTCCTCCCTGATGA	0.488																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1705-1707)gaG>gaA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							255.0	260.0	259.0					9																	32633871		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633871C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1707G>A	9.37:g.32633871C>T						RP11-555J4.4_ENST00000430787.1_RNA	p.E569E	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1796	-			569					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.1707G>A	CCDS35003.1																																																																																				0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			90	196	0	0	0	1	0	90	196				
SIK2	23235	broad.mit.edu	37	11	111594323	111594323	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:111594323C>T	ENST00000304987.3	+	15	2424	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	751					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AAGTCAGCAGCTGCCCCTTCC	0.602																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(2251-2253)Ctg>Ttg		salt-inducible kinase 2							98.0	113.0	108.0					11																	111594323		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111594323C>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2251C>T	11.37:g.111594323C>T							p.L751L	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			15	2424	+			751					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.2251C>T	CCDS8347.1																																																																																				0.602	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		67	96	0	0	0	1	0	67	96				
SIL1	64374	broad.mit.edu	37	5	138463490	138463490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:138463490C>T	ENST00000394817.2	-	2	182	c.43G>A	c.(43-45)Ggc>Agc	p.G15S	SIL1_ENST00000509534.1_Missense_Mutation_p.G23S|SIL1_ENST00000265195.5_Missense_Mutation_p.G15S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	15	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCAGCATGCCCAGAGGAGCC	0.517									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(43-45)Ggc>Agc		SIL1 nucleotide exchange factor							33.0	33.0	33.0					5																	138463490		2203	4300	6503	SO:0001583	missense	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138463490C>T	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.43G>A	5.37:g.138463490C>T	ENSP00000378294:p.Gly15Ser					SIL1_ENST00000509534.1_Missense_Mutation_p.G23S|SIL1_ENST00000265195.5_Missense_Mutation_p.G15S	p.G15S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	182	-			15			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	c.43G>A	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	C	8.353	0.831375	0.16820	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534;ENST00000508639;ENST00000513453;ENST00000507002;ENST00000505830;ENST00000505353	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.56;-0.27;0.03;0.03;0.03;0.03	5.14	4.26	0.50523	.	0.493376	0.20005	N	0.101250	T	0.51635	0.1686	N	0.24115	0.695	0.09310	N	1	B;B	0.34290	0.447;0.447	B;B	0.36378	0.223;0.223	T	0.40496	-0.9560	10	0.07813	T	0.8	-6.2799	8.5672	0.33547	0.1742:0.6578:0.168:0.0	.	23;15	D6REA1;Q9H173	.;SIL1_HUMAN	S	15;15;23;15;15;25;25;15	ENSP00000378294:G15S;ENSP00000265195:G15S;ENSP00000426858:G23S;ENSP00000427371:G15S;ENSP00000424014:G15S;ENSP00000421890:G25S;ENSP00000426460:G25S;ENSP00000423662:G15S	ENSP00000265195:G15S	G	-	1	0	SIL1	138491389	0.000000	0.05858	0.678000	0.29963	0.347000	0.29111	-0.447000	0.06828	1.380000	0.46344	0.655000	0.94253	GGC		0.517	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		6	6	0	0	0	1	0	6	6				
ZNF704	619279	broad.mit.edu	37	8	81577172	81577172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:81577172G>A	ENST00000327835.3	-	6	1036	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	269							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCTGGGATGGGGAAAGTAGGA	0.572																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(805-807)Ccc>Tcc		zinc finger protein 704							130.0	115.0	120.0					8																	81577172		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81577172G>A	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.805C>T	8.37:g.81577172G>A	ENSP00000331462:p.Pro269Ser						p.P269S	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		6	1036	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		269					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.805C>T	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752158	0.49362	.	.	ENSG00000164684	ENST00000327835	D	0.88586	-2.4	6.07	6.07	0.98685	.	0.054540	0.85682	D	0.000000	D	0.86234	0.5884	L	0.55481	1.735	0.45439	D	0.998416	B	0.14805	0.011	B	0.14023	0.01	T	0.80178	-0.1490	10	0.33940	T	0.23	-24.8016	14.0494	0.64727	0.0712:0.0:0.9288:0.0	.	269	Q6ZNC4	ZN704_HUMAN	S	269	ENSP00000331462:P269S	ENSP00000331462:P269S	P	-	1	0	ZNF704	81739727	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.636000	0.54317	2.890000	0.99128	0.650000	0.86243	CCC		0.572	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		14	69	0	0	0	1	0	14	69				
COL5A1	1289	broad.mit.edu	37	9	137666723	137666723	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:137666723G>A	ENST00000371817.3	+	27	2764	c.2350G>A	c.(2350-2352)Ggt>Agt	p.G784S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	784	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGCCCCCAGGGTCCGATTGG	0.602																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2350-2352)Ggt>Agt		collagen, type V, alpha 1							69.0	65.0	66.0					9																	137666723		2202	4300	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137666723G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2350G>A	9.37:g.137666723G>A	ENSP00000360882:p.Gly784Ser						p.G784S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	27	2764	+		Myeloproliferative disorder(178;0.0341)	784			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2350G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555625	0.65425	.	.	ENSG00000130635	ENST00000371817	D	0.99607	-6.27	4.4	4.4	0.53042	.	0.000000	0.85682	U	0.000000	D	0.99753	0.9901	H	0.97564	4.03	0.50039	D	0.999846	D	0.89917	1.0	D	0.83275	0.996	D	0.97125	0.9814	10	0.87932	D	0	.	12.8405	0.57800	0.0:0.0:1.0:0.0	.	784	P20908	CO5A1_HUMAN	S	784	ENSP00000360882:G784S	ENSP00000360882:G784S	G	+	1	0	COL5A1	136806544	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.646000	0.74348	2.149000	0.67028	0.655000	0.94253	GGT		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	9	0	0	0	1	0	4	9				
FN3KRP	79672	broad.mit.edu	37	17	80684765	80684765	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80684765G>A	ENST00000269373.6	+	6	721	c.648G>A	c.(646-648)ggG>ggA	p.G216G	FN3KRP_ENST00000535965.1_Silent_p.G166G|RP11-388C12.5_ENST00000570919.1_lincRNA	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	216							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TACTCCACGGGGACCTCTGGG	0.537																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(646-648)ggG>ggA		fructosamine 3 kinase related protein							75.0	80.0	78.0					17																	80684765		2203	4300	6503	SO:0001819	synonymous_variant	79672						kinase activity	g.chr17:80684765G>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.648G>A	17.37:g.80684765G>A						FN3KRP_ENST00000535965.1_Silent_p.G166G	p.G216G	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	721	+	Breast(20;0.000523)|all_neural(118;0.0952)		216					Q969F4|Q9H0U7	Silent	SNP	ENST00000269373.6	37	c.648G>A	CCDS11817.1																																																																																				0.537	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		10	94	0	0	0	1	0	10	94				
PRKCH	5583	broad.mit.edu	37	14	61997246	61997246	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:61997246C>T	ENST00000332981.5	+	12	2079	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	PRKCH_ENST00000555082.1_Missense_Mutation_p.A404V|RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.P70S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	565	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTCTTTGAGGCCATACTGAAT	0.517																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1693-1695)gCc>gTc		protein kinase C, eta							203.0	161.0	175.0					14																	61997246		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61997246C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1694C>T	14.37:g.61997246C>T	ENSP00000329127:p.Ala565Val					RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.P70S|PRKCH_ENST00000555082.1_Missense_Mutation_p.A404V	p.A565V	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	12	2079	+			565			Protein kinase.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1694C>T	CCDS9752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.936461|5.936461	0.97122|0.97122	.|.	.|.	ENSG00000027075|ENSG00000258989	ENST00000555185;ENST00000332981;ENST00000555082|ENST00000556347	T;T;T|.	0.66280|.	-0.2;1.46;1.46|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.66992|0.66992	0.2846|0.2846	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.62014|.	0.897|.	T|T	0.62120|0.62120	-0.6921|-0.6921	10|5	0.35671|.	T|.	0.21|.	.|.	19.2761|19.2761	0.94031|0.94031	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	565|.	P24723|.	KPCL_HUMAN|.	V|S	133;565;404|70	ENSP00000451871:A133V;ENSP00000329127:A565V;ENSP00000450981:A404V|.	ENSP00000329127:A565V|.	A|P	+|+	2|1	0|0	PRKCH|RP11-47I22.4	61066999|61066999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.950000|5.950000	0.70265|0.70265	2.561000|2.561000	0.86390|0.86390	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.517	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		5	73	0	0	0	1	0	5	73				
ZBTB41	360023	broad.mit.edu	37	1	197168712	197168712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:197168712G>A	ENST00000367405.4	-	1	960	c.892C>T	c.(892-894)Cct>Tct	p.P298S	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCACTTCCAGGGTCCTCAGAA	0.388																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(892-894)Cct>Tct		zinc finger and BTB domain containing 41							103.0	105.0	104.0					1																	197168712		2202	4300	6502	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197168712G>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.892C>T	1.37:g.197168712G>A	ENSP00000356375:p.Pro298Ser					ZBTB41_ENST00000467322.1_5'UTR	p.P298S	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	960	-			298					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.892C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	4.757	0.140699	0.09083	.	.	ENSG00000177888	ENST00000367405	T	0.05382	3.45	4.65	2.53	0.30540	.	0.371318	0.19684	N	0.108428	T	0.02649	0.0080	N	0.04508	-0.205	0.29047	N	0.88474	B	0.02656	0.0	B	0.01281	0.0	T	0.29701	-1.0003	10	0.45353	T	0.12	.	3.7433	0.08539	0.0926:0.2527:0.48:0.1747	.	298	Q5SVQ8	ZBT41_HUMAN	S	298	ENSP00000356375:P298S	ENSP00000356375:P298S	P	-	1	0	ZBTB41	195435335	0.008000	0.16893	0.998000	0.56505	0.869000	0.49853	1.217000	0.32455	0.884000	0.36064	0.305000	0.20034	CCT		0.388	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		5	97	0	0	0	1	0	5	97				
NAA25	80018	broad.mit.edu	37	12	112506746	112506746	+	Missense_Mutation	SNP	G	G	A	rs200806998		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:112506746G>A	ENST00000261745.4	-	11	1335	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	363						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAACAACAAGGTTTATCGCCA	0.378																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1087-1089)Cct>Tct		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							109.0	111.0	110.0					12																	112506746		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112506746G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1087C>T	12.37:g.112506746G>A	ENSP00000261745:p.Pro363Ser						p.P363S	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			11	1335	-			363					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.1087C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325700	0.81580	.	.	ENSG00000111300	ENST00000261745	T	0.46063	0.88	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.42799	-0.9430	10	0.18710	T	0.47	-12.9505	19.4226	0.94727	0.0:0.0:1.0:0.0	.	363;363	A8K8X0;Q14CX7	.;NAA25_HUMAN	S	363	ENSP00000261745:P363S	ENSP00000261745:P363S	P	-	1	0	NAA25	110991129	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.076000	0.94009	2.593000	0.87608	0.655000	0.94253	CCT		0.378	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		27	54	0	0	0	1	0	27	54				
DSCR3	10311	broad.mit.edu	37	21	38610910	38610910	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:38610910G>A	ENST00000309117.6	-	3	439	c.202C>T	c.(202-204)Cct>Tct	p.P68S	DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000398998.1_Splice_Site_p.P20S|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000288304.5_Splice_Site_p.P26S|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000476950.1_Splice_Site_p.P68S	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	68						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ATCTGGATAGGCTGTAAACAA	0.453																																						ENST00000288304.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.e3-1		Down syndrome critical region gene 3							84.0	88.0	87.0					21																	38610910		2203	4300	6503	SO:0001630	splice_region_variant	10311				vacuolar transport	nucleus|retromer complex		g.chr21:38610910G>A	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.202-1C>T	21.37:g.38610910G>A						DSCR3_ENST00000398998.1_Splice_Site_p.P20_splice|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000476950.1_Splice_Site_p.P68_splice|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000309117.6_Splice_Site_p.P68_splice	p.P26_splice			O14972	DSCR3_HUMAN			3	868	-			68					B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Splice_Site	SNP	ENST00000309117.6	37	c.75_splice	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119162	0.94385	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000476950;ENST00000398998	T	0.07567	3.18	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.993	T	0.45056	-0.9287	10	0.41790	T	0.15	-11.3208	19.5612	0.95373	0.0:0.0:1.0:0.0	.	68;68	B7Z6B1;O14972	.;DSCR3_HUMAN	S	68;26;68;20	ENSP00000311399:P68S	ENSP00000288304:P26S	P	-	1	0	DSCR3	37532780	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.437000	0.97535	2.687000	0.91594	0.655000	0.94253	CCT		0.453	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1		Missense_Mutation	6	117	0	0	0	1	0	6	117				
APOBEC3G	60489	broad.mit.edu	37	22	39479873	39479873	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:39479873G>A	ENST00000407997.3	+	5	1076	c.719G>A	c.(718-720)gGc>gAc	p.G240D	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.G240D|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	240	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CAGCGCAGGGGCTTTCTATGC	0.587																																						ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.(718-720)gGc>gAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							75.0	63.0	67.0					22																	39479873		2203	4300	6503	SO:0001583	missense	60489							g.chr22:39479873G>A	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.719G>A	22.37:g.39479873G>A	ENSP00000385057:p.Gly240Asp					APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.G240D	p.G240D	NM_021822.3	NP_068594.1					5	1076	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.719G>A	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.963608	0.34659	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.65364	-0.15;-0.15	1.7	-0.678	0.11353	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.72431	0.3459	M	0.74881	2.28	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.59537	-0.7436	9	0.87932	D	0	.	4.3729	0.11256	0.3916:0.0:0.6084:0.0	.	240	Q9HC16	ABC3G_HUMAN	D	240	ENSP00000413376:G240D;ENSP00000385057:G240D	ENSP00000385057:G240D	G	+	2	0	APOBEC3G	37809819	0.982000	0.34865	0.071000	0.20095	0.031000	0.12232	0.709000	0.25734	-0.110000	0.12022	0.591000	0.81541	GGC		0.587	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		11	30	0	0	0	1	0	11	30				
POLE2	5427	broad.mit.edu	37	14	50117063	50117063	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:50117063G>A	ENST00000216367.5	-	17	1516	c.1417C>T	c.(1417-1419)Cct>Tct	p.P473S	POLE2_ENST00000554396.1_Missense_Mutation_p.P473S|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_Missense_Mutation_p.P447S	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	473					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TCGGGCACAGGATACACTCTC	0.413																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(1339-1341)Cct>Tct		polymerase (DNA directed), epsilon 2, accessory subunit							156.0	148.0	151.0					14																	50117063		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50117063G>A	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1417C>T	14.37:g.50117063G>A	ENSP00000216367:p.Pro473Ser					POLE2_ENST00000554396.1_Missense_Mutation_p.P473S|POLE2_ENST00000216367.5_Missense_Mutation_p.P473S|POLE2_ENST00000556584.1_5'UTR	p.P447S	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			16	1557	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		473					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.1339C>T	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031327	0.93575	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.33438	1.41;1.41;1.41	5.88	5.88	0.94601	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.77638	-0.2513	10	0.87932	D	0	-18.0858	20.2381	0.98363	0.0:0.0:1.0:0.0	.	473;447;473	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	S	473;447;473	ENSP00000216367:P473S;ENSP00000446313:P447S;ENSP00000451621:P473S	ENSP00000216367:P473S	P	-	1	0	POLE2	49186813	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.658000	0.98594	2.779000	0.95612	0.650000	0.86243	CCT		0.413	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		5	91	0	0	0	1	0	5	91				
NUP88	4927	broad.mit.edu	37	17	5322673	5322673	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5322673C>T	ENST00000573584.1	-	1	807		c.e1+1		RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000381209.3_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CCTGGCATTACCTGGTACTGG	0.582																																						ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.e1+1		nucleoporin 88kDa							22.0	27.0	25.0					17																	5322673		2202	4293	6495	SO:0001630	splice_region_variant	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322673C>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.297+1G>A	17.37:g.5322673C>T								NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			1	807	-								D3DTM2|Q9BWE5	Splice_Site	SNP	ENST00000573584.1	37		CCDS11070.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134372	0.37630	.	.	ENSG00000108559	ENST00000225696	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9248	0.79609	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP88	5263397	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	3.578000	0.53892	2.865000	0.98341	0.655000	0.94253	.		0.582	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532	Intron	4	35	0	0	0	1	0	4	35				
LCE2B	26239	broad.mit.edu	37	1	152659421	152659421	+	Silent	SNP	C	C	T	rs570700910		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:152659421C>T	ENST00000368780.3	+	2	156	c.102C>T	c.(100-102)ccC>ccT	p.P34P	LCE2B_ENST00000417924.2_Silent_p.P34P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	34	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGCCTGCCCCAGTGCCCAG	0.607																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(100-102)ccC>ccT		late cornified envelope 2B							140.0	141.0	141.0					1																	152659421		2203	4300	6503	SO:0001819	synonymous_variant	26239				keratinization			g.chr1:152659421C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.102C>T	1.37:g.152659421C>T						LCE2B_ENST00000417924.2_Silent_p.P34P	p.P34P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	156	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		34			Cys-rich.|Pro-rich.		Q5TA80	Silent	SNP	ENST00000368780.3	37	c.102C>T	CCDS1020.1																																																																																				0.607	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		88	124	0	0	0	1	0	88	124				
FMN2	56776	broad.mit.edu	37	1	240370888	240370888	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:240370888C>T	ENST00000319653.9	+	5	3006	c.2776C>T	c.(2776-2778)Cta>Tta	p.L926L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	926	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCGCCGCCTCTACCCGGAGC	0.672																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2776-2778)Cta>Tta		formin 2							41.0	48.0	46.0					1																	240370888		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370888C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2776C>T	1.37:g.240370888C>T							p.L926L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3006	+	Ovarian(103;0.127)	all_cancers(173;0.013)	926			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2776C>T	CCDS31069.2																																																																																				0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	32	0	0	0	1	0	7	32				
SLC5A6	8884	broad.mit.edu	37	2	27424533	27424533	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27424533C>T	ENST00000310574.3	-	14	2018		c.e14+1		SLC5A6_ENST00000408041.1_Splice_Site|SLC5A6_ENST00000461319.1_Splice_Site	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6						biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CCCTGCCTTACTTGGAGAAGG	0.552																																						ENST00000310574.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.e14+1		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)						85.0	76.0	79.0					2																	27424533		2203	4300	6503	SO:0001630	splice_region_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27424533C>T	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1544+1G>A	2.37:g.27424533C>T						SLC5A6_ENST00000408041.1_Splice_Site|SLC5A6_ENST00000461319.1_Splice_Site		NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN			14	2018	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							B2RB85|D6W549|Q969Y5	Splice_Site	SNP	ENST00000310574.3	37		CCDS1740.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398115	0.42512	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7424	0.77910	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC5A6	27278037	0.999000	0.42202	0.994000	0.49952	0.192000	0.23643	2.620000	0.46410	2.782000	0.95742	0.655000	0.94253	.		0.552	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095	Intron	3	25	0	0	0	1	0	3	25				
TRIM33	51592	broad.mit.edu	37	1	114942100	114942100	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114942100C>T	ENST00000358465.2	-	18	3182	c.3099G>A	c.(3097-3099)aaG>aaA	p.K1033K	TRIM33_ENST00000450349.2_Silent_p.K665K|TRIM33_ENST00000369543.2_Silent_p.K1033K	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1033	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCACAGTTCTTGAAGATCA	0.358			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(3097-3099)aaG>aaA		tripartite motif containing 33							117.0	123.0	121.0					1																	114942100		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114942100C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.3099G>A	1.37:g.114942100C>T						TRIM33_ENST00000369543.2_Silent_p.K1033K|TRIM33_ENST00000450349.2_Silent_p.K665K	p.K1033K	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		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)	18	3182	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	1033			Bromo.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.3099G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913515	0.17907	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.4	4.49	0.54785	.	.	.	.	.	T	0.51329	0.1668	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52793	-0.8528	4	.	.	.	-6.4679	11.6431	0.51244	0.0:0.856:0.0:0.144	.	.	.	.	K	794	.	.	R	-	2	0	TRIM33	114743623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.604000	0.46274	1.419000	0.47118	0.650000	0.86243	AGA		0.358	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		34	56	0	0	0	1	0	34	56				
KDM2B	84678	broad.mit.edu	37	12	121880229	121880229	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:121880229G>A	ENST00000377071.4	-	19	3087	c.3015C>T	c.(3013-3015)ccC>ccT	p.P1005P	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_Silent_p.P936P|KDM2B_ENST00000542973.1_Silent_p.P373P	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1005					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGCTCCCGGGGGGTGCCGT	0.726																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2806-2808)ccC>ccT		lysine (K)-specific demethylase 2B							7.0	9.0	9.0					12																	121880229		1810	3965	5775	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880229G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3015C>T	12.37:g.121880229G>A						KDM2B_ENST00000542973.1_Silent_p.P373P|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.P1005P	p.P936P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3214	-			1005					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2808C>T	CCDS41850.1																																																																																				0.726	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		10	12	0	0	0	1	0	10	12				
KDELR3	11015	broad.mit.edu	37	22	38882320	38882320	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:38882320C>T	ENST00000216014.4	+	0	1728				DDX17_ENST00000444597.1_Missense_Mutation_p.D56N|DDX17_ENST00000381633.3_Missense_Mutation_p.D527N|DDX17_ENST00000396821.3_Missense_Mutation_p.D606N	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						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)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TCACTACGATCCCGATAGCTT	0.498																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1816-1818)Gat>Aat		DEAD (Asp-Glu-Ala-Asp) box helicase 17							72.0	63.0	66.0					22																	38882320		2203	4300	6503	SO:0001628	intergenic_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38882320C>T	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38882320C>T						DDX17_ENST00000381633.3_Missense_Mutation_p.D527N|DDX17_ENST00000444597.1_Missense_Mutation_p.D56N	p.D606N	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			13	1915	-	Melanoma(58;0.0286)		525					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	c.1816G>A	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166064	0.38217	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230;ENST00000404499	T;T;T	0.27104	1.69;1.72;1.7	5.53	5.53	0.82687	.	0.249881	0.37669	N	0.001999	T	0.19287	0.0463	N	0.19112	0.55	0.45690	D	0.998604	B;B;B	0.20780	0.003;0.023;0.048	B;B;B	0.20955	0.001;0.006;0.032	T	0.07616	-1.0763	10	0.14252	T	0.57	-8.9836	19.4787	0.95000	0.0:1.0:0.0:0.0	.	608;604;58	Q59F66;Q92841-4;Q9UQL5	.;.;.	N	606;527;58;56;604;608	ENSP00000380033:D606N;ENSP00000371046:D527N;ENSP00000385536:D604N	ENSP00000371046:D527N	D	-	1	0	DDX17	37212266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.850000	0.48294	2.583000	0.87209	0.655000	0.94253	GAT		0.498	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			32	72	0	0	0	1	0	32	72				
OR2H2	7932	broad.mit.edu	37	6	29556105	29556105	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:29556105C>T	ENST00000383640.2	+	1	423	c.384C>T	c.(382-384)ctC>ctT	p.L128L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	128					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCCAGCCCCTCCACTATGCCA	0.587																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(382-384)ctC>ctT		olfactory receptor, family 2, subfamily H, member 2							122.0	126.0	124.0					6																	29556105		1509	2709	4218	SO:0001819	synonymous_variant	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556105C>T		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.384C>T	6.37:g.29556105C>T						GABBR1_ENST00000355973.3_Intron	p.L128L	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	423	+			128					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Silent	SNP	ENST00000383640.2	37	c.384C>T	CCDS34365.1																																																																																				0.587	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			49	64	0	0	0	1	0	49	64				
RSRP1	57035	broad.mit.edu	37	1	25573233	25573233	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:25573233G>A	ENST00000243189.7	-	2	498	c.222C>T	c.(220-222)taC>taT	p.Y74Y	RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000417642.2_Silent_p.Y67Y|C1orf63_ENST00000431849.2_Silent_p.Y74Y	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		74	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGTAGCGCCTGTACTTCCGCT	0.652																																						ENST00000243189.7																			0				breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(220-222)taC>taT		chromosome 1 open reading frame 63							42.0	44.0	44.0					1																	25573233		2203	4300	6503	SO:0001819	synonymous_variant	57035							g.chr1:25573233G>A																												ENST00000243189.7:c.222C>T	1.37:g.25573233G>A						C1orf63_ENST00000417642.2_Silent_p.Y67Y|C1orf63_ENST00000431849.2_Silent_p.Y74Y	p.Y74Y	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	498	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	74			Arg-rich.		A8K917|Q49AA4|Q5TH71|Q9GZP6	Silent	SNP	ENST00000243189.7	37	c.222C>T	CCDS260.1																																																																																				0.652	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			5	81	0	0	0	1	0	5	81				
MSL3	10943	broad.mit.edu	37	X	11781994	11781994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:11781994A>G	ENST00000312196.4	+	8	950	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	MSL3_ENST00000361672.2_Missense_Mutation_p.Y133C|MSL3_ENST00000380693.3_Missense_Mutation_p.Y116C|MSL3_ENST00000337339.2_Missense_Mutation_p.Y282C|MSL3_ENST00000398527.2_Missense_Mutation_p.Y270C	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	282	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CAAGCTCAGTATAAAAAGGTG	0.393																																						ENST00000337339.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(844-846)tAt>tGt		male-specific lethal 3 homolog (Drosophila)							111.0	102.0	105.0					X																	11781994		2203	4300	6503	SO:0001583	missense	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11781994A>G	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.845A>G	X.37:g.11781994A>G	ENSP00000312244:p.Tyr282Cys					MSL3_ENST00000380693.3_Missense_Mutation_p.Y116C|MSL3_ENST00000361672.2_Missense_Mutation_p.Y133C|MSL3_ENST00000312196.4_Missense_Mutation_p.Y282C|MSL3_ENST00000398527.2_Missense_Mutation_p.Y270C	p.Y282C	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			8	872	+			282					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.845A>G	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.612832	0.46631	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000398527;ENST00000380693;ENST00000380692	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	4.85	3.6	0.41247	.	0.213791	0.40728	N	0.001040	T	0.36413	0.0966	M	0.86651	2.83	0.37927	D	0.931886	D;D;D;D;D	0.76494	0.998;0.996;0.992;0.997;0.999	D;D;P;D;D	0.67900	0.954;0.924;0.875;0.923;0.936	T	0.41466	-0.9507	10	0.56958	D	0.05	.	8.5399	0.33386	0.7098:0.0:0.0:0.2902	.	270;133;223;282;282	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	C	282;282;133;270;116;116	ENSP00000312244:Y282C;ENSP00000338078:Y282C;ENSP00000354562:Y133C;ENSP00000381538:Y270C;ENSP00000370069:Y116C;ENSP00000370068:Y116C	ENSP00000312244:Y282C	Y	+	2	0	MSL3	11691915	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.564000	0.60830	1.600000	0.50102	0.437000	0.28790	TAT		0.393	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		6	118	0	0	0	1	0	6	118				
CSNK1G3	1456	broad.mit.edu	37	5	122927013	122927013	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:122927013C>T	ENST00000361991.2	+	9	1021	c.991C>T	c.(991-993)Cct>Tct	p.P331S	CSNK1G3_ENST00000395412.1_Splice_Site_p.P331S|CSNK1G3_ENST00000395411.1_Splice_Site_p.P331S|CSNK1G3_ENST00000512718.3_Splice_Site_p.P256S|CSNK1G3_ENST00000521364.1_Splice_Site_p.P331S|CSNK1G3_ENST00000345990.4_Splice_Site_p.P331S|CSNK1G3_ENST00000360683.2_Splice_Site_p.P331S|CSNK1G3_ENST00000511130.2_Splice_Site_p.P219S|CSNK1G3_ENST00000510842.2_Splice_Site_p.P332S			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	331					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TGTATTGTAGCCTACTCCAGT	0.338																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.e10-1		casein kinase 1, gamma 3							81.0	71.0	74.0					5																	122927013		2203	4300	6503	SO:0001630	splice_region_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122927013C>T	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.991-1C>T	5.37:g.122927013C>T						CSNK1G3_ENST00000345990.4_Splice_Site_p.P331_splice|CSNK1G3_ENST00000361991.2_Splice_Site_p.P331_splice|CSNK1G3_ENST00000511130.2_Splice_Site_p.P219_splice|CSNK1G3_ENST00000360683.2_Splice_Site_p.P331_splice|CSNK1G3_ENST00000510842.2_Splice_Site_p.P332_splice|CSNK1G3_ENST00000395411.1_Splice_Site_p.P331_splice|CSNK1G3_ENST00000521364.1_Splice_Site_p.P331_splice|CSNK1G3_ENST00000512718.3_Splice_Site_p.P256_splice	p.P331_splice	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	10	1710	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	331					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Splice_Site	SNP	ENST00000361991.2	37	c.990_splice	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326560	0.41197	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.48836	0.81;0.8;0.89;1.37;1.23;0.89;0.86;0.8;0.81	4.14	4.14	0.48551	Casein kinase 1 gamma C-terminal (1);	0.319312	0.25642	N	0.029272	T	0.41903	0.1179	N	0.20357	0.565	0.51482	D	0.999924	B;B;B;P;B;P	0.51791	0.003;0.008;0.001;0.948;0.008;0.948	B;B;B;P;B;P	0.49226	0.005;0.009;0.005;0.603;0.017;0.603	T	0.23833	-1.0177	9	.	.	.	.	17.3247	0.87244	0.0:1.0:0.0:0.0	.	256;332;219;331;331;331	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	S	331;331;331;219;256;331;332;331;331	ENSP00000378807:P331S;ENSP00000378806:P331S;ENSP00000334735:P331S;ENSP00000421385:P219S;ENSP00000421998:P256S;ENSP00000429412:P331S;ENSP00000423838:P332S;ENSP00000354942:P331S;ENSP00000353904:P331S	.	P	+	1	0	CSNK1G3	122954912	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.925000	0.70062	2.590000	0.87494	0.650000	0.86243	CCT		0.338	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384	Missense_Mutation	19	57	0	0	0	1	0	19	57				
SLC4A4	8671	broad.mit.edu	37	4	72352694	72352694	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:72352694C>T	ENST00000264485.5	+	15	2050	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	SLC4A4_ENST00000425175.1_Silent_p.L645L|SLC4A4_ENST00000340595.3_Silent_p.L601L|SLC4A4_ENST00000351898.6_Silent_p.L645L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	645					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGACACCACACTGGCCCCAGA	0.299																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1801-1803)Ctg>Ttg		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							82.0	76.0	78.0					4																	72352694		2202	4297	6499	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72352694C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1933C>T	4.37:g.72352694C>T						SLC4A4_ENST00000264485.5_Silent_p.L645L|SLC4A4_ENST00000425175.1_Silent_p.L645L|SLC4A4_ENST00000351898.6_Silent_p.L645L	p.L601L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		12	1997	+			645					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.1801C>T	CCDS43236.1																																																																																				0.299	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		67	91	0	0	0	1	0	67	91				
MYH6	4624	broad.mit.edu	37	14	23868055	23868055	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:23868055G>A	ENST00000356287.3	-	14	1802	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	MYH6_ENST00000405093.3_Silent_p.I591I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	591	Myosin motor.				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)			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)		GCCAGCCCAGGATGTTGTAGT	0.542																																						ENST00000405093.3																			0				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						c.(1771-1773)atC>atT		myosin, heavy chain 6, cardiac muscle, alpha							191.0	161.0	171.0					14																	23868055		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23868055G>A	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.1773C>T	14.37:g.23868055G>A						MYH6_ENST00000356287.3_Silent_p.I591I	p.I591I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	15	1843	-	all_cancers(95;2.54e-05)		591			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1773C>T	CCDS9600.1																																																																																				0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			32	47	0	0	0	1	0	32	47				
PDCD6IP	10015	broad.mit.edu	37	3	33870345	33870345	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:33870345G>A	ENST00000307296.3	+	7	1095	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.E245K			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	240	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTATTTCCAGGAGGTGTTCCC	0.448																																						ENST00000457054.2																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(733-735)Gag>Aag		programmed cell death 6 interacting protein							104.0	102.0	102.0					3																	33870345		2203	4300	6503	SO:0001630	splice_region_variant	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33870345G>A	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.718-1G>A	3.37:g.33870345G>A						PDCD6IP_ENST00000307296.3_Splice_Site_p.E240_splice	p.E245K	NM_001162429.2|NM_013374.5	NP_001155901.1|NP_037506.2	Q8WUM4	PDC6I_HUMAN			7	888	+			240			BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.733G>A	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155477	0.78114	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.18016	2.24;2.24	5.2	5.2	0.72013	BRO1 domain (3);	0.093279	0.64402	D	0.000001	T	0.41488	0.1161	M	0.82716	2.605	0.80722	D	1	D;P;P	0.60160	0.987;0.783;0.675	P;B;P	0.60682	0.878;0.319;0.58	T	0.31081	-0.9956	10	0.15066	T	0.55	-20.2609	19.0901	0.93224	0.0:0.0:1.0:0.0	.	21;245;240	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	K	240;245	ENSP00000307387:E240K;ENSP00000411825:E245K	ENSP00000307387:E240K	E	+	1	0	PDCD6IP	33845349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.586000	0.87340	0.655000	0.94253	GAG		0.448	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		Missense_Mutation	31	43	0	0	0	1	0	31	43				
FANCM	57697	broad.mit.edu	37	14	45646165	45646165	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45646165G>A	ENST00000267430.5	+	14	4293	c.4208G>A	c.(4207-4209)tGt>tAt	p.C1403Y	FANCM_ENST00000542564.2_Missense_Mutation_p.C1377Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1403					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CATAAATCCTGTCATTCTGTT	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(4207-4209)tGt>tAt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							31.0	37.0	35.0					14																	45646165		2141	4142	6283	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45646165G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4208G>A	14.37:g.45646165G>A	ENSP00000267430:p.Cys1403Tyr					FANCM_ENST00000542564.2_Missense_Mutation_p.C1377Y	p.C1403Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	4293	+			1403					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.4208G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.625743	0.00117	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18502	2.8;2.8;2.21	5.77	0.798	0.18660	.	1.183800	0.05516	N	0.561191	T	0.08935	0.0221	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.30268	-0.9984	10	0.02654	T	1	.	5.0192	0.14352	0.3201:0.1506:0.5293:0.0	.	1377;1403	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	Y	1403;1377;919	ENSP00000267430:C1403Y;ENSP00000442493:C1377Y;ENSP00000452033:C919Y	ENSP00000267430:C1403Y	C	+	2	0	FANCM	44715915	0.001000	0.12720	0.000000	0.03702	0.433000	0.31745	0.049000	0.14099	-0.115000	0.11915	0.643000	0.83706	TGT		0.284	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		6	38	0	0	0	1	0	6	38				
NT5DC1	221294	broad.mit.edu	37	6	116427450	116427450	+	Missense_Mutation	SNP	G	G	A	rs370386418		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:116427450G>A	ENST00000319550.4	+	2	219	c.137G>A	c.(136-138)gGg>gAg	p.G46E		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	46							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AAGGAGAAAGGGTACGATAAG	0.343																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(136-138)gGg>gAg		5'-nucleotidase domain containing 1		G	GLU/GLY	0,4406		0,0,2203	96.0	95.0	95.0		137	4.2	0.9	6		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	NT5DC1	NM_152729.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	46/456	116427450	1,13005	2203	4300	6503	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116427450G>A	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.137G>A	6.37:g.116427450G>A	ENSP00000326858:p.Gly46Glu						p.G46E	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	2	219	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	46					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.137G>A	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946841	0.53186	0.0	1.16E-4	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791	T;T	0.26518	1.73;1.73	5.12	4.25	0.50352	HAD-like domain (1);	0.057750	0.64402	D	0.000002	T	0.43389	0.1245	M	0.85197	2.74	0.53005	D	0.999964	D;D	0.89917	0.995;1.0	D;D	0.75484	0.976;0.986	T	0.51204	-0.8735	10	0.56958	D	0.05	-3.4835	12.3088	0.54918	0.0839:0.0:0.9161:0.0	.	46;46	A8K2Z3;Q5TFE4	.;NT5D1_HUMAN	E	46	ENSP00000326858:G46E;ENSP00000393578:G46E	ENSP00000326858:G46E	G	+	2	0	NT5DC1	116534143	1.000000	0.71417	0.928000	0.36995	0.495000	0.33615	4.928000	0.63447	1.147000	0.42369	0.563000	0.77884	GGG		0.343	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		4	63	0	0	0	1	0	4	63				
NFATC2	4773	broad.mit.edu	37	20	50048882	50048882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:50048882G>A	ENST00000396009.3	-	9	2663	c.2444C>T	c.(2443-2445)cCc>cTc	p.P815L	NFATC2_ENST00000371564.3_Missense_Mutation_p.P815L|NFATC2_ENST00000609507.1_Missense_Mutation_p.P596L|NFATC2_ENST00000610033.1_Missense_Mutation_p.P596L|NFATC2_ENST00000609943.1_Missense_Mutation_p.P795L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P795L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	815					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTGGTTGGTGGGTGAGTAGTG	0.662																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2443-2445)cCc>cTc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							52.0	54.0	53.0					20																	50048882		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048882G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2444C>T	20.37:g.50048882G>A	ENSP00000379330:p.Pro815Leu					NFATC2_ENST00000414705.1_Missense_Mutation_p.P795L|NFATC2_ENST00000396009.3_Missense_Mutation_p.P815L	p.P815L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			9	2663	-	Hepatocellular(150;0.248)		815					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2444C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187303	0.78789	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.15256	2.44;2.44;2.45	5.46	5.46	0.80206	.	0.061467	0.64402	D	0.000003	T	0.35682	0.0940	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.982;0.997;0.982;0.983	T	0.01791	-1.1273	10	0.44086	T	0.13	-21.7923	19.3156	0.94211	0.0:0.0:1.0:0.0	.	795;795;815;815	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	815;815;795	ENSP00000360619:P815L;ENSP00000379330:P815L;ENSP00000396471:P795L	ENSP00000360619:P815L	P	-	2	0	NFATC2	49482289	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.593000	0.82686	2.567000	0.86603	0.655000	0.94253	CCC		0.662	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		4	80	0	0	0	1	0	4	80				
DSG2	1829	broad.mit.edu	37	18	29118938	29118938	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:29118938C>T	ENST00000261590.8	+	12	2085	c.1876C>T	c.(1876-1878)Cta>Tta	p.L626L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	626					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCTGCTCCTGCTATGTAAGTC	0.488																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1876-1878)Cta>Tta		desmoglein 2							85.0	81.0	82.0					18																	29118938		2053	4217	6270	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29118938C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1876C>T	18.37:g.29118938C>T							p.L626L	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		12	2085	+			626					Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.1876C>T	CCDS42423.1																																																																																				0.488	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		23	61	0	0	0	1	0	23	61				
ARHGAP26	23092	broad.mit.edu	37	5	142273811	142273811	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:142273811C>T	ENST00000274498.4	+	6	873	c.495C>T	c.(493-495)agC>agT	p.S165S	ARHGAP26_ENST00000378004.3_Silent_p.S165S	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	165					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCAGACAGCCAAGTGGACC	0.433																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(493-495)agC>agT		Rho GTPase activating protein 26							78.0	76.0	77.0					5																	142273811		2203	4300	6503	SO:0001819	synonymous_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142273811C>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.495C>T	5.37:g.142273811C>T						ARHGAP26_ENST00000274498.4_Silent_p.S165S	p.S165S	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	850	+		all_hematologic(541;0.0416)	165					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	c.495C>T	CCDS4277.1																																																																																				0.433	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		13	25	0	0	0	1	0	13	25				
MYF6	4618	broad.mit.edu	37	12	81102337	81102337	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:81102337C>T	ENST00000228641.3	+	2	776	c.554C>T	c.(553-555)tCc>tTc	p.S185F		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	185					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ACCTGCAGCTCCCAGTGGCCA	0.572																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(553-555)tCc>tTc		myogenic factor 6 (herculin)							67.0	74.0	71.0					12																	81102337		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81102337C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.554C>T	12.37:g.81102337C>T	ENSP00000228641:p.Ser185Phe						p.S185F	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			2	776	+			185					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.554C>T	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721220	0.48728	.	.	ENSG00000111046	ENST00000228641	D	0.96774	-4.12	5.36	5.36	0.76844	.	0.600079	0.18441	N	0.141124	D	0.94679	0.8284	L	0.54323	1.7	0.43494	D	0.995732	P	0.51653	0.947	B	0.41374	0.355	D	0.95040	0.8177	10	0.62326	D	0.03	-8.4063	16.1745	0.81842	0.0:1.0:0.0:0.0	.	185	P23409	MYF6_HUMAN	F	185	ENSP00000228641:S185F	ENSP00000228641:S185F	S	+	2	0	MYF6	79626468	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	4.794000	0.62482	2.652000	0.90054	0.655000	0.94253	TCC		0.572	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		33	54	0	0	0	1	0	33	54				
TIE1	7075	broad.mit.edu	37	1	43770800	43770800	+	Missense_Mutation	SNP	C	C	T	rs369899704	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43770800C>T	ENST00000372476.3	+	2	416	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	TIE1_ENST00000538015.1_Missense_Mutation_p.R113C|TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000441333.2_Missense_Mutation_p.R113C	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	113					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGGCGCGGCGCACGCGCGT	0.701													C|||	2	0.000399361	0.0015	0.0	5008	,	,		13042	0.0		0.0	False		,,,				2504	0.0					ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(337-339)Cgc>Tgc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1		C	CYS/ARG	3,4401	6.2+/-15.9	0,3,2199	28.0	31.0	30.0		337	3.8	0.5	1		30	0,8596		0,0,4298	no	missense	TIE1	NM_005424.2	180	0,3,6497	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	113/1139	43770800	3,12997	2202	4298	6500	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43770800C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.337C>T	1.37:g.43770800C>T	ENSP00000361554:p.Arg113Cys					TIE1_ENST00000441333.2_Missense_Mutation_p.R113C|TIE1_ENST00000538015.1_Missense_Mutation_p.R113C	p.R113C	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			2	416	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	113					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.337C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121966	0.37436	6.81E-4	0.0	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.75938	-0.98;1.5;0.91	3.8	3.8	0.43715	.	0.000000	0.32852	U	0.005571	T	0.80778	0.4688	L	0.50333	1.59	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;0.999	P;P;D;D;D;P	0.83275	0.543;0.908;0.928;0.977;0.996;0.676	T	0.81158	-0.1060	10	0.54805	T	0.06	.	11.0297	0.47765	0.0:0.8116:0.1884:0.0	.	68;113;113;113;113;113	B4DTW8;B5A952;B5A950;B5A948;B5A951;P35590	.;.;.;.;.;TIE1_HUMAN	C	113	ENSP00000361554:R113C;ENSP00000401903:R113C;ENSP00000440063:R113C	ENSP00000361554:R113C	R	+	1	0	TIE1	43543387	1.000000	0.71417	0.525000	0.27900	0.017000	0.09413	3.084000	0.50143	1.975000	0.57531	0.561000	0.74099	CGC		0.701	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		12	18	0	0	0	1	0	12	18				
TMEM132D	121256	broad.mit.edu	37	12	129569283	129569283	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:129569283G>A	ENST00000422113.2	-	6	1770				TMEM132D_ENST00000389441.4_Missense_Mutation_p.P8S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D						negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				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)		GGAGGGAAAGGTGAGCTTTCA	0.527																																						ENST00000389441.4																			0				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						c.(22-24)Cct>Tct		transmembrane protein 132D							50.0	44.0	46.0					12																	129569283		2203	4300	6503	SO:0001627	intron_variant	121256					integral to membrane		g.chr12:129569283G>A	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.1444-36C>T	12.37:g.129569283G>A						TMEM132D_ENST00000422113.2_Intron	p.P8S			Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	1	1262	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	0					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.22C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	g	11.51	1.661486	0.29515	.	.	ENSG00000151952	ENST00000389441	T	0.08807	3.05	3.79	-0.715	0.11215	.	.	.	.	.	T	0.04137	0.0115	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.45760	-0.9239	7	.	.	.	.	4.0035	0.09590	0.2928:0.3591:0.3481:0.0	.	8	Q14C87-2	.	S	8	ENSP00000374092:P8S	.	P	-	1	0	TMEM132D	128135236	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.312000	0.02720	-0.117000	0.11872	0.556000	0.70494	CCT		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		7	27	0	0	0	1	0	7	27				
SRSF6	6431	broad.mit.edu	37	20	42089555	42089555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:42089555G>A	ENST00000244020.3	+	6	993	c.887G>A	c.(886-888)aGg>aAg	p.R296K		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	296	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TCCAGATCAAGGAGCCAGTCC	0.488																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(886-888)aGg>aAg		serine/arginine-rich splicing factor 6							78.0	77.0	77.0					20																	42089555		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42089555G>A	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.887G>A	20.37:g.42089555G>A	ENSP00000244020:p.Arg296Lys						p.R296K	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			6	993	+			296			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.887G>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692433	0.48202	.	.	ENSG00000124193	ENST00000244020	T	0.16196	2.36	5.93	5.93	0.95920	.	0.195808	0.53938	D	0.000057	T	0.32133	0.0819	L	0.55743	1.74	0.31410	N	0.675613	P	0.44690	0.841	P	0.54210	0.745	T	0.05194	-1.0900	10	0.35671	T	0.21	.	17.2565	0.87059	0.0:0.0:1.0:0.0	.	296	Q13247	SRSF6_HUMAN	K	296	ENSP00000244020:R296K	ENSP00000244020:R296K	R	+	2	0	SRSF6	41522969	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.377000	0.73145	2.803000	0.96430	0.585000	0.79938	AGG		0.488	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		4	64	0	0	0	1	0	4	64				
GJA9	81025	broad.mit.edu	37	1	39340782	39340782	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39340782G>A	ENST00000360786.3	-	1	1241	c.989C>T	c.(988-990)tCt>tTt	p.S330F	RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.S330F|GJA9_ENST00000454994.2_Missense_Mutation_p.S330F|MYCBP_ENST00000397572.2_5'Flank			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	330					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AATCTCATTAGAAAGTACAGT	0.313																																						ENST00000454994.2																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(988-990)tCt>tTt		gap junction protein, alpha 9, 59kDa							75.0	78.0	77.0					1																	39340782		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340782G>A	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.989C>T	1.37:g.39340782G>A	ENSP00000354020:p.Ser330Phe					GJA9_ENST00000360786.3_Missense_Mutation_p.S330F|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.S330F|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA	p.S330F			P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1265	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	330					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.989C>T	CCDS432.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661010	0.29515	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97924	-4.61;-4.51;-4.51	4.02	3.1	0.35709	.	.	.	.	.	D	0.94112	0.8112	N	0.24115	0.695	0.24581	N	0.993879	B	0.22414	0.069	B	0.19946	0.027	D	0.89320	0.3639	9	0.62326	D	0.03	.	11.2015	0.48743	0.0943:0.0:0.9057:0.0	.	330	P57773	CXA9_HUMAN	F	330	ENSP00000406846:S330F;ENSP00000350415:S330F;ENSP00000354020:S330F	ENSP00000350415:S330F	S	-	2	0	GJA9	39113369	0.802000	0.28943	0.109000	0.21407	0.703000	0.40648	3.133000	0.50531	0.993000	0.38866	0.655000	0.94253	TCT		0.313	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		8	52	0	0	0	1	0	8	52				
CRYGN	155051	broad.mit.edu	37	7	151135166	151135166	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151135166G>A	ENST00000337323.2	-	2	312	c.186C>T	c.(184-186)ttC>ttT	p.F62F	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000491928.1_Silent_p.F62F|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	62	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCAAGATGAACTGCTGGC	0.612																																						ENST00000337323.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8						c.(184-186)ttC>ttT		crystallin, gamma N							65.0	64.0	64.0					7																	151135166		2203	4300	6503	SO:0001819	synonymous_variant	155051							g.chr7:151135166G>A	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.186C>T	7.37:g.151135166G>A						CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	p.F62F	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	312	-			62			Beta/gamma crystallin 'Greek key' 2.		Q496G6	Silent	SNP	ENST00000337323.2	37	c.186C>T	CCDS5926.1																																																																																				0.612	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			22	55	0	0	0	1	0	22	55				
B3GAT1	27087	broad.mit.edu	37	11	134251885	134251885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:134251885C>T	ENST00000524765.1	-	5	5496	c.952G>A	c.(952-954)Gtg>Atg	p.V318M	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Missense_Mutation_p.V318M|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V318M|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V331M			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	318					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TTCACCAGCACTGGCTTCTCT	0.602																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(952-954)Gtg>Atg		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							185.0	136.0	153.0					11																	134251885		2201	4297	6498	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134251885C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.952G>A	11.37:g.134251885C>T	ENSP00000433847:p.Val318Met					B3GAT1_ENST00000392580.1_Missense_Mutation_p.V318M|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V331M|B3GAT1_ENST00000312527.4_Missense_Mutation_p.V318M	p.V318M			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	5	5496	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	318					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.952G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479548	0.63849	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.84	4.92	0.64577	.	0.052499	0.85682	N	0.000000	T	0.37489	0.1005	L	0.29908	0.895	0.58432	D	0.999999	P;B	0.36683	0.565;0.31	B;B	0.41174	0.349;0.118	T	0.23762	-1.0179	10	0.48119	T	0.1	-25.6768	14.3303	0.66550	0.0:0.9283:0.0:0.0717	.	331;318	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	M	318;318;318;331	ENSP00000376359:V318M;ENSP00000307875:V318M;ENSP00000433847:V318M;ENSP00000445983:V331M	ENSP00000307875:V318M	V	-	1	0	B3GAT1	133757095	0.753000	0.28349	0.912000	0.35992	0.994000	0.84299	2.012000	0.40932	1.471000	0.48121	0.561000	0.74099	GTG		0.602	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		10	55	0	0	0	1	0	10	55				
PDILT	204474	broad.mit.edu	37	16	20370754	20370754	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:20370754G>A	ENST00000302451.4	-	12	1890	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	548					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GGCTCTTCCAGCTTGGATACG	0.512																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1642-1644)Ctg>Ttg		protein disulfide isomerase-like, testis expressed							222.0	201.0	208.0					16																	20370754		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370754G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1642C>T	16.37:g.20370754G>A							p.L548L	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1890	-			548					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1642C>T	CCDS10584.1																																																																																				0.512	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		13	172	0	0	0	1	0	13	172				
LRRN1	57633	broad.mit.edu	37	3	3887324	3887324	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:3887324C>T	ENST00000319331.3	+	2	1760	c.999C>T	c.(997-999)ttC>ttT	p.F333F	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	333						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GCTTGGCTTTCCGAAGTGTCC	0.488																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(997-999)ttC>ttT		leucine rich repeat neuronal 1							58.0	55.0	56.0					3																	3887324		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887324C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.999C>T	3.37:g.3887324C>T						SUMF1_ENST00000534863.1_Intron	p.F333F	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1760	+			333					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.999C>T	CCDS33685.1																																																																																				0.488	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		3	33	0	0	0	1	0	3	33				
KIAA0101	9768	broad.mit.edu	37	15	64668976	64668976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:64668976C>T	ENST00000300035.4	-	3	394	c.256G>A	c.(256-258)Gca>Aca	p.A86T	KIAA0101_ENST00000559519.1_Missense_Mutation_p.A59T|KIAA0101_ENST00000558008.1_Missense_Mutation_p.A86T|KIAA0101_ENST00000380258.2_Intron	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	86					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						CTGCTTCCTGCCTCTTCAGGA	0.403																																						ENST00000300035.4																			0				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(256-258)Gca>Aca		KIAA0101							44.0	46.0	45.0					15																	64668976		2203	4300	6503	SO:0001583	missense	9768					mitochondrion|nucleus		g.chr15:64668976C>T	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.256G>A	15.37:g.64668976C>T	ENSP00000300035:p.Ala86Thr					KIAA0101_ENST00000558008.1_Missense_Mutation_p.A86T|KIAA0101_ENST00000560234.1_Silent_p.R86R|KIAA0101_ENST00000559519.1_Missense_Mutation_p.A59T|KIAA0101_ENST00000380258.2_Intron	p.A86T	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN			3	394	-			86					A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	ENST00000300035.4	37	c.256G>A	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847074	0.51164	.	.	ENSG00000166803	ENST00000300035	T	0.47869	0.83	5.8	1.58	0.23477	.	0.246767	0.39475	N	0.001360	T	0.46964	0.1420	M	0.63843	1.955	0.80722	D	1	B	0.33694	0.421	B	0.37601	0.254	T	0.47761	-0.9092	10	0.62326	D	0.03	-9.7384	12.53	0.56109	0.1233:0.3967:0.48:0.0	.	86	Q15004	PAF_HUMAN	T	86	ENSP00000300035:A86T	ENSP00000300035:A86T	A	-	1	0	KIAA0101	62456029	0.996000	0.38824	0.974000	0.42286	0.981000	0.71138	1.050000	0.30404	0.041000	0.15688	0.585000	0.79938	GCA		0.403	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736		32	57	0	0	0	1	0	32	57				
TAOK3	51347	broad.mit.edu	37	12	118599659	118599659	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:118599659C>T	ENST00000392533.3	-	18	2563	c.2073G>A	c.(2071-2073)aaG>aaA	p.K691K	TAOK3_ENST00000537952.1_Silent_p.K231K|TAOK3_ENST00000543709.1_5'Flank|TAOK3_ENST00000419821.2_Silent_p.K691K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	691					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCTCGCCTCTTATTGTACT	0.478																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(2071-2073)aaG>aaA		TAO kinase 3							243.0	215.0	225.0					12																	118599659		2203	4300	6503	SO:0001819	synonymous_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118599659C>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2073G>A	12.37:g.118599659C>T						TAOK3_ENST00000537952.1_Silent_p.K231K|TAOK3_ENST00000419821.2_Silent_p.K691K	p.K691K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			18	2563	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		691					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	c.2073G>A	CCDS9188.1																																																																																				0.478	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		52	116	0	0	0	1	0	52	116				
ABCA9	10350	broad.mit.edu	37	17	67017925	67017925	+	Missense_Mutation	SNP	C	C	T	rs201495945		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:67017925C>T	ENST00000340001.4	-	18	2570	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ABCA9_ENST00000370732.2_Missense_Mutation_p.V787M|ABCA9_ENST00000453985.2_Missense_Mutation_p.V787M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	787					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					TTCAGAAACACCTCATTCAAA	0.338																																						ENST00000340001.4																			0				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						c.(2359-2361)Gtg>Atg		ATP-binding cassette, sub-family A (ABC1), member 9							107.0	106.0	106.0					17																	67017925		2203	4296	6499	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67017925C>T	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.2359G>A	17.37:g.67017925C>T	ENSP00000342216:p.Val787Met					ABCA9_ENST00000370732.2_Missense_Mutation_p.V787M|ABCA9_ENST00000453985.2_Missense_Mutation_p.V787M	p.V787M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			18	2570	-	Breast(10;1.47e-12)		787					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2359G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.381101	0.82792	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88509	-2.39;-2.39	5.12	5.12	0.69794	.	0.000000	0.43579	D	0.000551	D	0.97040	0.9033	H	0.99042	4.41	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.98693	1.0697	10	0.87932	D	0	.	17.4793	0.87668	0.0:1.0:0.0:0.0	.	787;787	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	787;770;787;782	ENSP00000342216:V787M;ENSP00000359767:V787M	ENSP00000342216:V787M	V	-	1	0	ABCA9	64529520	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.394000	0.73223	2.558000	0.86282	0.603000	0.83216	GTG		0.338	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		25	106	0	0	0	1	0	25	106				
CABLES2	81928	broad.mit.edu	37	20	60967479	60967479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:60967479G>A	ENST00000279101.5	-	8	1065	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	353					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTGACATGGGGGAACTTCTCC	0.547																																						ENST00000279101.5																			0				endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11						c.(1057-1059)Ccc>Tcc		Cdk5 and Abl enzyme substrate 2							238.0	208.0	218.0					20																	60967479		2203	4300	6503	SO:0001583	missense	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60967479G>A	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1057C>T	20.37:g.60967479G>A	ENSP00000279101:p.Pro353Ser						p.P353S	NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		8	1065	-	Breast(26;2.05e-08)		353					Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	c.1057C>T	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000482	0.93227	.	.	ENSG00000149679	ENST00000370560;ENST00000279101	T	0.17370	2.28	5.64	5.64	0.86602	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59418	-0.7458	10	0.87932	D	0	-22.8683	19.6912	0.96002	0.0:0.0:1.0:0.0	.	353	Q9BTV7	CABL2_HUMAN	S	141;353	ENSP00000279101:P353S	ENSP00000279101:P353S	P	-	1	0	CABLES2	60400874	1.000000	0.71417	0.991000	0.47740	0.826000	0.46750	9.633000	0.98432	2.671000	0.90904	0.655000	0.94253	CCC		0.547	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		12	149	0	0	0	1	0	12	149				
RTKN	6242	broad.mit.edu	37	2	74657154	74657154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74657154C>T	ENST00000233330.6	-	6	723	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	RTKN_ENST00000305557.5_Missense_Mutation_p.G173R|RTKN_ENST00000272430.5_Missense_Mutation_p.G186R|RTKN_ENST00000484453.1_5'Flank	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AAGTCTGGCCCCGCCTCAGCG	0.622																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(517-519)Ggg>Agg		rhotekin							37.0	42.0	41.0					2																	74657154		2171	4281	6452	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74657154C>T	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.406G>A	2.37:g.74657154C>T	ENSP00000233330:p.Gly136Arg					RTKN_ENST00000272430.5_Missense_Mutation_p.G186R|RTKN_ENST00000233330.6_Missense_Mutation_p.G136R	p.G173R	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			7	1102	-			186						Missense_Mutation	SNP	ENST00000233330.6	37	c.517G>A	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838870	0.51057	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.52526	0.66;0.66;0.66	5.04	5.04	0.67666	.	0.222920	0.45361	D	0.000364	T	0.49474	0.1559	L	0.43152	1.355	0.32793	N	0.50094	P;P	0.44877	0.845;0.813	P;P	0.49853	0.624;0.49	T	0.53585	-0.8418	10	0.19590	T	0.45	.	15.9301	0.79651	0.0:1.0:0.0:0.0	.	186;173	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	R	173;186;136	ENSP00000305298:G173R;ENSP00000272430:G186R;ENSP00000233330:G136R	ENSP00000233330:G136R	G	-	1	0	RTKN	74510662	0.034000	0.19679	1.000000	0.80357	0.961000	0.63080	0.848000	0.27710	2.619000	0.88677	0.561000	0.74099	GGG		0.622	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		15	37	0	0	0	1	0	15	37				
LINC00886	730091	broad.mit.edu	37	3	156528071	156528071	+	lincRNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:156528071C>T	ENST00000472943.1	-	0	148					NR_038387.1				long intergenic non-protein coding RNA 886																		AGGGCAGCTTCAGCACAAAGG	0.483																																						ENST00000472943.1																			0																																																			0							g.chr3:156528071C>T			3q25.31	2013-05-17			ENSG00000240875	ENSG00000240875		"""Long non-coding RNAs"""	48572	non-coding RNA	RNA, long non-coding							Standard	NR_038387		Approved				OTTHUMG00000158647		3.37:g.156528071C>T								NR_038387.1						0	148	-									RNA	SNP	ENST00000472943.1	37																																																																																						0.483	LINC00886-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351622.1			5	66	0	0	0	1	0	5	66				
LGMN	5641	broad.mit.edu	37	14	93180218	93180218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:93180218C>T	ENST00000393218.2	-	8	830	c.493G>A	c.(493-495)Gac>Aac	p.D165N	LGMN_ENST00000557434.1_Missense_Mutation_p.D165N|LGMN_ENST00000555699.1_Missense_Mutation_p.D165N|LGMN_ENST00000334869.4_Missense_Mutation_p.D165N	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	165					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCATTCAGGTCCTTTACATGA	0.443																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(493-495)Gac>Aac		legumain							153.0	127.0	136.0					14																	93180218		2203	4300	6503	SO:0001583	missense	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93180218C>T	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.493G>A	14.37:g.93180218C>T	ENSP00000376911:p.Asp165Asn					LGMN_ENST00000555699.1_Missense_Mutation_p.D165N|LGMN_ENST00000557434.1_Missense_Mutation_p.D165N|LGMN_ENST00000334869.4_Missense_Mutation_p.D165N	p.D165N	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	8	830	-		all_cancers(154;0.0706)	165					O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	c.493G>A	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057141	0.55325	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855	T;T;T;T	0.53423	0.64;0.62;0.67;0.62	5.37	3.55	0.40652	.	0.130904	0.64402	N	0.000002	T	0.60495	0.2273	M	0.86651	2.83	0.54753	D	0.999986	P;P;B;B	0.35050	0.482;0.482;0.314;0.343	P;P;B;B	0.44811	0.461;0.461;0.178;0.314	T	0.63695	-0.6579	10	0.72032	D	0.01	-45.1741	10.2669	0.43460	0.0:0.845:0.0:0.155	.	165;165;165;165	A8K669;Q99538;Q86TV2;Q86TV3	.;LGMN_HUMAN;.;.	N	165;165;165;165;165;165;142;130	ENSP00000451861:D165N;ENSP00000334052:D165N;ENSP00000452572:D165N;ENSP00000376911:D165N	ENSP00000262004:D165N	D	-	1	0	LGMN	92249971	1.000000	0.71417	0.996000	0.52242	0.275000	0.26752	3.115000	0.50391	0.758000	0.33059	-0.157000	0.13467	GAC		0.443	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		14	63	0	0	0	1	0	14	63				
GPATCH8	23131	broad.mit.edu	37	17	42476715	42476715	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:42476715G>A	ENST00000591680.1	-	8	2760	c.2730C>T	c.(2728-2730)gaC>gaT	p.D910D	GPATCH8_ENST00000434000.1_Silent_p.D832D	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	910	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGTCATCTGAGTCATGGGAGC	0.488																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2494-2496)gaC>gaT		G patch domain containing 8							131.0	117.0	122.0					17																	42476715		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476715G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2730C>T	17.37:g.42476715G>A						GPATCH8_ENST00000591680.1_Silent_p.D910D	p.D832D			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2778	-		Prostate(33;0.0181)	910			Ser-rich.		B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.2496C>T	CCDS32666.1																																																																																				0.488	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		20	73	0	0	0	1	0	20	73				
OR4F5	79501	broad.mit.edu	37	1	69617	69617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:69617G>A	ENST00000335137.3	+	1	527	c.527G>A	c.(526-528)aGg>aAg	p.R176K		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(1)|ovary(1)	2	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACCTTCCTAGGGTAATCAAA	0.443																																						ENST00000335137.3																			0				lung(1)|ovary(1)	2						c.(526-528)aGg>aAg		olfactory receptor, family 4, subfamily F, member 5							72.0	54.0	61.0					1																	69617		1733	2998	4731	SO:0001583	missense	79501				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:69617G>A	AB065592	CCDS30547.1	1p36.33	2012-08-09			ENSG00000186092	ENSG00000186092		"""GPCR / Class A : Olfactory receptors"""	14825	protein-coding gene	gene with protein product							Standard	NM_001005484		Approved		uc001aal.1	Q8NH21	OTTHUMG00000001094	ENST00000335137.3:c.527G>A	1.37:g.69617G>A	ENSP00000334393:p.Arg176Lys						p.R176K	NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	527	+	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)	176					Q5VT22	Missense_Mutation	SNP	ENST00000335137.3	37	c.527G>A	CCDS30547.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.618493	0.00828	.	.	ENSG00000186092	ENST00000534990;ENST00000335137	T	0.00063	8.78	2.31	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000500	T	0.00109	0.0003	L	0.52011	1.625	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.47661	-0.9100	10	0.02654	T	1	.	4.0382	0.09740	0.162:0.2461:0.5919:0.0	.	176	Q8NH21	OR4F5_HUMAN	K	224;176	ENSP00000334393:R176K	ENSP00000334393:R176K	R	+	2	0	OR4F5	59480	0.000000	0.05858	0.864000	0.33941	0.945000	0.59286	0.068000	0.14531	0.251000	0.21505	0.398000	0.26397	AGG		0.443	OR4F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003223.1	NM_001005484		80	261	0	0	0	1	0	80	261				
MOGAT3	346606	broad.mit.edu	37	7	100844059	100844059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100844059G>A	ENST00000223114.4	-	1	243	c.77C>T	c.(76-78)gCc>gTc	p.A26V	MOGAT3_ENST00000379423.3_Missense_Mutation_p.A26V|MOGAT3_ENST00000440203.2_Missense_Mutation_p.A26V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	26					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					ATATTGGTAGGCGCCCACTGC	0.592																																						ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(76-78)gCc>gTc		monoacylglycerol O-acyltransferase 3							98.0	75.0	83.0					7																	100844059		2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100844059G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.77C>T	7.37:g.100844059G>A	ENSP00000223114:p.Ala26Val					MOGAT3_ENST00000379423.3_Missense_Mutation_p.A26V|MOGAT3_ENST00000440203.2_Missense_Mutation_p.A26V	p.A26V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN			1	243	-	Lung NSC(181;0.168)|all_lung(186;0.215)		26					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.77C>T	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	1.677	-0.507468	0.04231	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.25250	2.79;2.13;1.81	4.46	-0.32	0.12721	.	0.945186	0.08757	N	0.898181	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.14578	0.011;0.001	T	0.35176	-0.9799	10	0.02654	T	1	-3.0521	6.9498	0.24538	0.527:0.0:0.473:0.0	.	26;26	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	V	26	ENSP00000223114:A26V;ENSP00000403756:A26V;ENSP00000368734:A26V	ENSP00000223114:A26V	A	-	2	0	MOGAT3	100630779	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.144000	0.16135	0.010000	0.14839	0.549000	0.68633	GCC		0.592	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		12	40	0	0	0	1	0	12	40				
SYCN	342898	broad.mit.edu	37	19	39694793	39694793	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39694793C>T	ENST00000318438.6	-	1	113	c.102G>A	c.(100-102)ggG>ggA	p.G34G		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	34					exocytosis (GO:0006887)	secretory granule membrane (GO:0030667)				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AAGTGCGCGTCCCGTCCGAGT	0.711																																						ENST00000318438.6																			0				endometrium(1)|kidney(1)	2						c.(100-102)ggG>ggA		syncollin							20.0	22.0	22.0					19																	39694793		2006	4154	6160	SO:0001819	synonymous_variant	342898				exocytosis	transport vesicle membrane		g.chr19:39694793C>T	BC039541	CCDS46070.1	19q13.2	2008-02-05	2005-05-26			ENSG00000179751			18442	protein-coding gene	gene with protein product			"""insulin synthesis associated 1"""	INSSA1		11839820	Standard	NM_001080468		Approved	SYL, FLJ27441	uc002okr.2	Q0VAF6		ENST00000318438.6:c.102G>A	19.37:g.39694793C>T							p.G34G	NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	113	-	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		34						Silent	SNP	ENST00000318438.6	37	c.102G>A	CCDS46070.1																																																																																				0.711	SYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463830.1			19	28	0	0	0	1	0	19	28				
JAK1	3716	broad.mit.edu	37	1	65300340	65300340	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:65300340C>T	ENST00000342505.4	-	25	3618	c.3370G>A	c.(3370-3372)Gtt>Att	p.V1124I		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1124	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			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)	AGTTGATAAACCTGTAAAAAG	0.308			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				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						c.e25-1		Janus kinase 1							73.0	67.0	69.0					1																	65300340		1796	4065	5861	SO:0001630	splice_region_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65300340C>T	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.3370-1G>A	1.37:g.65300340C>T							p.V1124_splice	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	25	3618	-			1124			Protein kinase 2.		Q59GQ2|Q9UD26	Splice_Site	SNP	ENST00000342505.4	37	c.3369_splice	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	4.687	0.127819	0.08981	.	.	ENSG00000162434	ENST00000342505	D	0.82433	-1.61	4.92	4.01	0.46588	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.52693	0.1750	N	0.20986	0.625	0.41948	D	0.990644	B	0.09022	0.002	B	0.14023	0.01	T	0.49762	-0.8905	9	0.09338	T	0.73	-4.7251	11.6006	0.51001	0.0:0.8509:0.0:0.1491	.	1124	P23458	JAK1_HUMAN	I	1124	ENSP00000343204:V1124I	ENSP00000343204:V1124I	V	-	1	0	JAK1	65072928	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.270000	0.43355	1.293000	0.44690	0.650000	0.86243	GTT		0.308	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	Missense_Mutation	12	53	0	0	0	1	0	12	53				
CXCR3	2833	broad.mit.edu	37	X	70836516	70836516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70836516G>A	ENST00000373693.3	-	2	873	c.806C>T	c.(805-807)aCc>aTc	p.T269I	CXCR3_ENST00000373691.4_Missense_Mutation_p.T316I	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	269					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GTGATAGGGGGTCCAGCAGAG	0.672																																						ENST00000373691.4																			0				breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10						c.(946-948)aCc>aTc		chemokine (C-X-C motif) receptor 3							34.0	31.0	32.0					X																	70836516		2203	4300	6503	SO:0001583	missense	0				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70836516G>A	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.806C>T	X.37:g.70836516G>A	ENSP00000362797:p.Thr269Ile					CXCR3_ENST00000373693.3_Missense_Mutation_p.T269I	p.T316I	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN			2	1110	-	Renal(35;0.156)		269					B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	c.947C>T	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742608	0.30865	.	.	ENSG00000186810	ENST00000373691;ENST00000373693	T;T	0.72282	-0.64;-0.64	5.03	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.058909	0.64402	D	0.000003	T	0.67420	0.2891	L	0.31157	0.91	0.37939	D	0.932256	P;D	0.63046	0.765;0.992	B;D	0.64144	0.34;0.922	T	0.62927	-0.6750	10	0.15066	T	0.55	.	7.6822	0.28520	0.0908:0.3059:0.6033:0.0	.	316;269	P49682-2;P49682	.;CXCR3_HUMAN	I	316;269	ENSP00000362795:T316I;ENSP00000362797:T269I	ENSP00000362795:T316I	T	-	2	0	CXCR3	70753241	0.188000	0.23250	0.981000	0.43875	0.219000	0.24729	0.964000	0.29306	0.210000	0.20664	-0.268000	0.10319	ACC		0.672	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			19	22	0	0	0	1	0	19	22				
AARS	16	broad.mit.edu	37	16	70294990	70294990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:70294990C>T	ENST00000261772.8	-	13	1885	c.1742G>A	c.(1741-1743)gGt>gAt	p.G581D	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		TTTCAGGTCACCGTAGATGGT	0.468																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(1741-1743)gGt>gAt		alanyl-tRNA synthetase	L-Alanine(DB00160)						174.0	145.0	155.0					16																	70294990		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70294990C>T	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1742G>A	16.37:g.70294990C>T	ENSP00000261772:p.Gly581Asp					AARS_ENST00000564359.1_5'UTR	p.G581D	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	13	1885	-		Ovarian(137;0.0365)	581						Missense_Mutation	SNP	ENST00000261772.8	37	c.1742G>A	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716775	0.68844	.	.	ENSG00000090861	ENST00000261772	T	0.79141	-1.24	5.94	5.94	0.96194	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.095893	0.64402	D	0.000001	D	0.90823	0.7118	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92119	0.5702	10	0.87932	D	0	-26.7916	17.8614	0.88783	0.0:1.0:0.0:0.0	.	589;581	E7ETK8;P49588	.;SYAC_HUMAN	D	581	ENSP00000261772:G581D	ENSP00000261772:G581D	G	-	2	0	AARS	68852491	1.000000	0.71417	0.500000	0.27589	0.040000	0.13550	6.030000	0.70903	2.823000	0.97156	0.637000	0.83480	GGT		0.468	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		11	58	0	0	0	1	0	11	58				
ZNF460	10794	broad.mit.edu	37	19	57802067	57802067	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:57802067G>A	ENST00000360338.3	+	3	480	c.158G>A	c.(157-159)gGt>gAt	p.G53D	ZNF460_ENST00000537645.1_Splice_Site_p.G12D	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	53	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)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCCCTTCAGGTGACAGCACA	0.433																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		zinc finger protein 460							53.0	47.0	49.0					19																	57802067		2203	4300	6503	SO:0001630	splice_region_variant	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802067G>A	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.158-1G>A	19.37:g.57802067G>A						ZNF460_ENST00000537645.1_Splice_Site_p.G12_splice	p.G53_splice	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	480	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	53			KRAB.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Splice_Site	SNP	ENST00000360338.3	37	c.157_splice	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521474	0.64747	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.36157	1.27;1.27	2.23	0.0313	0.14170	Krueppel-associated box (4);	.	.	.	.	T	0.29817	0.0745	M	0.72353	2.195	0.26948	N	0.966103	P	0.36125	0.538	B	0.29524	0.103	T	0.16600	-1.0397	8	.	.	.	.	5.7319	0.18045	0.3306:0.0:0.6694:0.0	.	53	Q14592	ZN460_HUMAN	D	12;53	ENSP00000446167:G12D;ENSP00000353491:G53D	.	G	+	2	0	ZNF460	62493879	0.246000	0.23909	0.675000	0.29917	0.805000	0.45488	0.395000	0.20850	0.263000	0.21812	0.557000	0.71058	GGT		0.433	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635	Missense_Mutation	14	35	0	0	0	1	0	14	35				
GRM7	2917	broad.mit.edu	37	3	7188335	7188335	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:7188335C>T	ENST00000357716.4	+	2	990	c.716C>T	c.(715-717)aCg>aTg	p.T239M	GRM7_ENST00000402647.2_Missense_Mutation_p.T239M|GRM7_ENST00000389336.4_Missense_Mutation_p.T239M|GRM7_ENST00000403881.1_Missense_Mutation_p.T239M|GRM7_ENST00000486284.1_Missense_Mutation_p.T239M	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	239					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GAGTCCTTCACGCAGATTTCC	0.473																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(715-717)aCg>aTg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						70.0	74.0	72.0					3																	7188335		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188335C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.716C>T	3.37:g.7188335C>T	ENSP00000350348:p.Thr239Met					GRM7_ENST00000403881.1_Missense_Mutation_p.T239M|GRM7_ENST00000402647.2_Missense_Mutation_p.T239M|GRM7_ENST00000357716.4_Missense_Mutation_p.T239M|GRM7_ENST00000389336.4_Missense_Mutation_p.T239M	p.T239M	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			2	990	+			239					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.716C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216047	0.39201	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.87	4.07	0.47477	Extracellular ligand-binding receptor (1);	0.212203	0.48286	D	0.000192	T	0.74981	0.3788	L	0.40543	1.245	0.38579	D	0.950133	B;B;B	0.12630	0.005;0.006;0.001	B;B;B	0.17098	0.004;0.002;0.017	T	0.73241	-0.4045	10	0.48119	T	0.1	.	9.4974	0.38997	0.0:0.7868:0.0:0.2132	.	239;239;239	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	M	31;239;239;239;239;239;239;239	ENSP00000393799:T31M;ENSP00000350348:T239M;ENSP00000417536:T239M;ENSP00000373987:T239M;ENSP00000385664:T239M;ENSP00000384585:T239M	ENSP00000350348:T239M	T	+	2	0	GRM7	7163335	0.801000	0.28930	0.956000	0.39512	0.999000	0.98932	1.311000	0.33562	1.625000	0.50366	0.655000	0.94253	ACG		0.473	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		5	41	0	0	0	1	0	5	41				
HAO2	51179	broad.mit.edu	37	1	119934884	119934884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:119934884C>T	ENST00000325945.3	+	6	996	c.923C>T	c.(922-924)gCc>gTc	p.A308V	HAO2_ENST00000361035.4_Missense_Mutation_p.A321V	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	308	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGGGGCCTTGCCTGCAAGGTG	0.488																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(961-963)gCc>gTc		hydroxyacid oxidase 2 (long chain)							108.0	101.0	103.0					1																	119934884		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119934884C>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.923C>T	1.37:g.119934884C>T	ENSP00000316339:p.Ala308Val					HAO2_ENST00000325945.3_Missense_Mutation_p.A308V	p.A321V	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	7	1245	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	308			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.962C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620386	0.87460	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	T;T	0.33438	1.41;1.41	6.07	6.07	0.98685	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.096429	0.64402	D	0.000001	T	0.45034	0.1322	M	0.83118	2.625	0.80722	D	1	P	0.44776	0.843	P	0.50378	0.639	T	0.34675	-0.9819	9	.	.	.	-19.9234	20.6593	0.99626	0.0:1.0:0.0:0.0	.	308	Q9NYQ3	HAOX2_HUMAN	V	321;308	ENSP00000354314:A321V;ENSP00000316339:A308V	.	A	+	2	0	HAO2	119736407	1.000000	0.71417	0.999000	0.59377	0.488000	0.33401	7.376000	0.79658	2.885000	0.99019	0.655000	0.94253	GCC		0.488	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		12	27	0	0	0	1	0	12	27				
LILRA6	79168	broad.mit.edu	37	19	54745687	54745687	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:54745687G>A	ENST00000396365.2	-	4	462	c.423C>T	c.(421-423)acC>acT	p.T141T	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Silent_p.T141T|LILRA6_ENST00000245621.5_Silent_p.T141T|LILRA6_ENST00000270464.5_Silent_p.T141T|LILRA6_ENST00000419410.2_Silent_p.T141T|LILRA6_ENST00000391735.3_Silent_p.T141T	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	141					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACATCGGAGGGTCATATTCC	0.562																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(421-423)acC>acT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							32.0	55.0	48.0					19																	54745687		2128	4292	6420	SO:0001819	synonymous_variant	79168							g.chr19:54745687G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.423C>T	19.37:g.54745687G>A						LILRA6_ENST00000419410.2_Silent_p.T141T|LILRA6_ENST00000270464.5_Silent_p.T141T|LILRA6_ENST00000396365.2_Silent_p.T141T|LILRA6_ENST00000391735.3_Silent_p.T141T|LILRA6_ENST00000245621.5_Silent_p.T141T|LILRB3_ENST00000407860.2_Intron	p.T141T						GBM - Glioblastoma multiforme(193;0.105)	4	471	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Silent	SNP	ENST00000396365.2	37	c.423C>T	CCDS42610.1																																																																																				0.562	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		13	154	0	0	0	1	0	13	154				
TRPC7	57113	broad.mit.edu	37	5	135583254	135583254	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:135583254C>T	ENST00000513104.1	-	7	2031	c.1749G>A	c.(1747-1749)atG>atA	p.M583I	TRPC7_ENST00000355180.3_Missense_Mutation_p.M522I|TRPC7_ENST00000426057.2_Missense_Mutation_p.M467I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	583					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)			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)			TGAAAATGACCATGAACTTGA	0.463																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1747-1749)atG>atA		transient receptor potential cation channel, subfamily C, member 7							155.0	155.0	155.0					5																	135583254		1979	4188	6167	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583254C>T	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.1749G>A	5.37:g.135583254C>T	ENSP00000426070:p.Met583Ile					TRPC7_ENST00000355180.3_Missense_Mutation_p.M522I|TRPC7_ENST00000426057.2_Missense_Mutation_p.M467I	p.M583I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	2031	-			583					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1749G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.979236|4.979236	0.92982|0.92982	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|D;D;D	.|0.98531	.|-4.98;-4.98;-4.98	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98140|0.98140	0.9386|0.9386	L|L	0.56199|0.56199	1.76|1.76	0.58432|0.58432	D|D	0.999998|0.999998	.|B;P;P;B	.|0.51653	.|0.115;0.562;0.947;0.236	.|B;B;P;B	.|0.55222	.|0.345;0.439;0.771;0.173	D|D	0.98300|0.98300	1.0518|1.0518	5|10	.|0.51188	.|T	.|0.08	-31.1995|-31.1995	19.4483|19.4483	0.94857|0.94857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|467;522;528;583	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	S|I	467;522;528|522;467;583;583	.|ENSP00000347312:M522I;ENSP00000441628:M467I;ENSP00000426070:M583I	.|ENSP00000265193:M583I	G|M	-|-	1|3	0|0	TRPC7|TRPC7	135611153|135611153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.651000|7.651000	0.83577|0.83577	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GGT|ATG		0.463	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		12	98	0	0	0	1	0	12	98				
PRH1	5554	broad.mit.edu	37	12	11034849	11034849	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:11034849C>T	ENST00000428168.2	-	4	523	c.486G>A	c.(484-486)ggG>ggA	p.G162G	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	162						extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GAGGAGACTGCCCCTGTGGAG	0.557																																						ENST00000428168.2																			0				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(484-486)ggG>ggA		proline-rich protein HaeIII subfamily 1							79.0	91.0	87.0					12																	11034849		2203	4300	6503	SO:0001819	synonymous_variant	5554					extracellular space	protein binding	g.chr12:11034849C>T			12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.486G>A	12.37:g.11034849C>T						PRR4_ENST00000536668.1_5'UTR	p.G162G	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.245)	4	523	-			162					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Silent	SNP	ENST00000428168.2	37	c.486G>A																																																																																					0.557	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006250		42	70	0	0	0	1	0	42	70				
MSH3	4437	broad.mit.edu	37	5	79974874	79974874	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:79974874G>A	ENST00000265081.6	+	8	1382	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	434					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCTTGTCCGAGCAAACAGAGG	0.478								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1300-1302)gaG>gaA	Mismatch excision repair (MMR)	mutS homolog 3							137.0	134.0	135.0					5																	79974874		2203	4300	6503	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79974874G>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1302G>A	5.37:g.79974874G>A							p.E434E	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	8	1382	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	434					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.1302G>A	CCDS34195.1																																																																																				0.478	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		13	188	0	0	0	1	0	13	188				
AAAS	8086	broad.mit.edu	37	12	53701278	53701278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:53701278G>A	ENST00000209873.4	-	16	1801	c.1636C>T	c.(1636-1638)Ctc>Ttc	p.L546F	AAAS_ENST00000394384.3_Missense_Mutation_p.L513F|AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000550286.1_Missense_Mutation_p.L422F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	546					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TATTCTTAGAGGTGGGAATGT	0.517																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1636-1638)Ctc>Ttc		achalasia, adrenocortical insufficiency, alacrimia							44.0	51.0	49.0					12																	53701278		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53701278G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1636C>T	12.37:g.53701278G>A	ENSP00000209873:p.Leu546Phe					AAAS_ENST00000550286.1_Missense_Mutation_p.L422F|AAAS_ENST00000394384.3_Missense_Mutation_p.L513F	p.L546F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			16	1801	-			546					Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.1636C>T	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	G	6.550	0.469680	0.12461	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286	D;D;D	0.84660	-1.86;-1.74;-1.88	4.72	-1.07	0.09968	.	0.428238	0.16479	N	0.212660	T	0.65228	0.2671	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48725	-0.9010	10	0.25106	T	0.35	-2.5136	2.7413	0.05254	0.4229:0.0:0.2246:0.3525	.	513;546	Q5JB47;Q9NRG9	.;AAAS_HUMAN	F	546;513;422	ENSP00000209873:L546F;ENSP00000377908:L513F;ENSP00000446885:L422F	ENSP00000209873:L546F	L	-	1	0	AAAS	51987545	0.020000	0.18652	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	-0.300000	0.08895	-0.169000	0.13324	CTC		0.517	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			7	11	0	0	0	1	0	7	11				
IFIT1	3434	broad.mit.edu	37	10	91162815	91162815	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:91162815C>T	ENST00000371804.3	+	2	950	c.783C>T	c.(781-783)taC>taT	p.Y261Y	IFIT1_ENST00000546318.1_Silent_p.Y230Y|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	261	Interaction with the 5'-triphosphate group of PPP-RNA. {ECO:0000250}.				cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CCAAGTTTTACCGAAGAAAAG	0.438																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(688-690)taC>taT		interferon-induced protein with tetratricopeptide repeats 1							107.0	109.0	109.0					10																	91162815		2203	4300	6503	SO:0001819	synonymous_variant	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162815C>T	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.783C>T	10.37:g.91162815C>T						IFIT1_ENST00000371804.3_Silent_p.Y261Y|LIPA_ENST00000371837.1_Intron	p.Y230Y	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1977	+			261					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.690C>T	CCDS31243.1																																																																																				0.438	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		9	160	0	0	0	1	0	9	160				
MCF2L	23263	broad.mit.edu	37	13	113740519	113740519	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:113740519G>A	ENST00000375608.3	+	22	2477	c.2419G>A	c.(2419-2421)Gcc>Acc	p.A807T	MCF2L_ENST00000375597.4_Missense_Mutation_p.A775T|MCF2L_ENST00000442652.2_Missense_Mutation_p.A807T|MCF2L_ENST00000434480.2_Missense_Mutation_p.A783T|MCF2L_ENST00000375601.3_Missense_Mutation_p.A781T|MCF2L_ENST00000397030.1_Missense_Mutation_p.A810T|MCF2L_ENST00000423482.2_Missense_Mutation_p.A775T|MCF2L_ENST00000421756.1_Missense_Mutation_p.A781T|MCF2L_ENST00000535094.2_Missense_Mutation_p.A777T|MCF2L_ENST00000375604.2_Missense_Mutation_p.A834T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	807	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CATCCTGAAGGCCGTGAACGA	0.622																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2428-2430)Gcc>Acc		MCF.2 cell line derived transforming sequence-like							89.0	73.0	78.0					13																	113740519		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113740519G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2419G>A	13.37:g.113740519G>A	ENSP00000364758:p.Ala807Thr					MCF2L_ENST00000535094.2_Missense_Mutation_p.A777T|MCF2L_ENST00000421756.1_Missense_Mutation_p.A781T|MCF2L_ENST00000375597.4_Missense_Mutation_p.A775T|MCF2L_ENST00000434480.2_Missense_Mutation_p.A783T|MCF2L_ENST00000375604.2_Missense_Mutation_p.A834T|MCF2L_ENST00000423482.2_Missense_Mutation_p.A775T|MCF2L_ENST00000442652.2_Missense_Mutation_p.A807T|MCF2L_ENST00000375608.3_Missense_Mutation_p.A807T|MCF2L_ENST00000375601.3_Missense_Mutation_p.A781T	p.A810T			O15068	MCF2L_HUMAN			21	2465	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	807			DH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2428G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.452726|4.452726	0.84209|0.84209	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017	T;T;T;T;T;T;T;T;T;T|.	0.63255|.	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66597|0.66597	0.2805|0.2805	L|L	0.42686|0.42686	1.345|1.345	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P;D;D;P|.	0.55172|.	0.903;0.903;0.943;0.96;0.97;0.954|.	P;P;P;P;P;P|.	0.54759|.	0.584;0.584;0.584;0.703;0.76;0.708|.	T|T	0.64266|0.64266	-0.6448|-0.6448	10|5	0.62326|.	D|.	0.03|.	.|.	17.635|17.635	0.88119|0.88119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	775;777;834;739;775;807|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.	.;.;.;.;.;MCF2L_HUMAN|.	T|D	807;807;834;810;777;781;781;783;775;775;618|437	ENSP00000364758:A807T;ENSP00000401422:A807T;ENSP00000364754:A834T;ENSP00000380225:A810T;ENSP00000440374:A777T;ENSP00000397285:A781T;ENSP00000364751:A781T;ENSP00000407722:A783T;ENSP00000405639:A775T;ENSP00000364747:A775T|.	ENSP00000364747:A775T|.	A|G	+|+	1|2	0|0	MCF2L|MCF2L	112788520|112788520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.262000|0.262000	0.26303|0.26303	6.523000|6.523000	0.73787|0.73787	2.157000|2.157000	0.67596|0.67596	0.196000|0.196000	0.17591|0.17591	GCC|GGC		0.622	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			7	46	0	0	0	1	0	7	46				
CSMD1	64478	broad.mit.edu	37	8	3216830	3216830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:3216830C>T	ENST00000520002.1	-	22	3706	c.3151G>A	c.(3151-3153)Gtc>Atc	p.V1051I	CSMD1_ENST00000602723.1_Missense_Mutation_p.V1051I|CSMD1_ENST00000542608.1_Missense_Mutation_p.V1050I|CSMD1_ENST00000539096.1_Missense_Mutation_p.V1050I|CSMD1_ENST00000602557.1_Missense_Mutation_p.V1051I|CSMD1_ENST00000400186.3_Missense_Mutation_p.V1051I|CSMD1_ENST00000537824.1_Missense_Mutation_p.V1050I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1051	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGGCAGGGACTCCAGGATCA	0.458																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(3151-3153)Gtc>Atc		CUB and Sushi multiple domains 1							53.0	57.0	56.0					8																	3216830		2190	4299	6489	SO:0001583	missense	64478					integral to membrane		g.chr8:3216830C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3151G>A	8.37:g.3216830C>T	ENSP00000430733:p.Val1051Ile					CSMD1_ENST00000602723.1_Missense_Mutation_p.V1051I|CSMD1_ENST00000537824.1_Missense_Mutation_p.V1050I|CSMD1_ENST00000539096.1_Missense_Mutation_p.V1050I|CSMD1_ENST00000520002.1_Missense_Mutation_p.V1051I|CSMD1_ENST00000400186.3_Missense_Mutation_p.V1051I|CSMD1_ENST00000542608.1_Missense_Mutation_p.V1050I	p.V1051I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3706	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1051			Sushi 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3151G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.59|11.59	1.683409|1.683409	0.29872|0.29872	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12;-0.12	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.66616|0.66616	0.2807|0.2807	N|N	0.20304|0.20304	0.555|0.555	0.40295|0.40295	D|D	0.978548|0.978548	.|D;B;B	.|0.60575	.|0.988;0.201;0.168	.|D;B;B	.|0.75484	.|0.986;0.163;0.16	T|T	0.62950|0.62950	-0.6745|-0.6745	5|10	.|0.17832	.|T	.|0.49	.|.	18.8469|18.8469	0.92210|0.92210	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1051;1051;1051	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	N|I	530|1051;1051;913;1050;1050;1050	.|ENSP00000383047:V1051I;ENSP00000430733:V1051I;ENSP00000441462:V1050I;ENSP00000446243:V1050I;ENSP00000441675:V1050I	.|ENSP00000320445:V913I	S|V	-|-	2|1	0|0	CSMD1|CSMD1	3204237|3204237	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.961000|0.961000	0.63080|0.63080	3.101000|3.101000	0.50283|0.50283	2.432000|2.432000	0.82394|0.82394	0.550000|0.550000	0.68814|0.68814	AGT|GTC		0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		11	27	0	0	0	1	0	11	27				
TEX9	374618	broad.mit.edu	37	15	56719898	56719898	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:56719898G>A	ENST00000352903.2	+	11	1083	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	TEX9_ENST00000560582.1_Intron|TEX9_ENST00000537232.1_Silent_p.K278K|MNS1_ENST00000566386.1_Intron	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	353										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TAGGGTTCAAGAAACAGTTAA	0.249																																						ENST00000537232.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14						c.(832-834)aaG>aaA		testis expressed 9							84.0	97.0	93.0					15																	56719898		2183	4269	6452	SO:0001819	synonymous_variant	374618							g.chr15:56719898G>A	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.1059G>A	15.37:g.56719898G>A						TEX9_ENST00000352903.2_Silent_p.K353K|TEX9_ENST00000560582.1_Intron|MNS1_ENST00000566386.1_Intron	p.K278K			Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	11	1295	+			353					B4DH73	Silent	SNP	ENST00000352903.2	37	c.834G>A	CCDS10157.1																																																																																				0.249	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		11	162	0	0	0	1	0	11	162				
NBR2	10230	broad.mit.edu	37	17	41290861	41290861	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:41290861G>A	ENST00000460115.1	+	0	412					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		caccagcctggggaccgtggg	0.577																																						ENST00000460115.1																			0																				48.0	47.0	47.0					17																	41290861		1568	3578	5146			0							g.chr17:41290861G>A	U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41290861G>A								NR_003108.1						0	412	+								Q3LRJ7	RNA	SNP	ENST00000460115.1	37			.	.	.	.	.	.	.	.	.	.	g	11.12	1.546209	0.27652	.	.	ENSG00000198496	ENST00000356906	.	.	.	0.906	0.906	0.19314	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3084	0.15817	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000349375:W35X	W	+	3	0	NBR2	38544387	0.253000	0.23982	0.005000	0.12908	0.046000	0.14306	0.421000	0.21280	0.827000	0.34685	0.442000	0.29010	TGG		0.577	NBR2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000277175.1	NR_003108		25	31	0	0	0	1	0	25	31				
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	rs569602183	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47.0	39.0	41.0					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		4	88	1	0	2.56e-06	1	2.56622e-06	4	88				
PRSS37	136242	broad.mit.edu	37	7	141536967	141536967	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:141536967C>T	ENST00000350549.3	-	4	883	c.512G>A	c.(511-513)aGc>aAc	p.S171N	PRSS37_ENST00000438520.1_Missense_Mutation_p.S171N	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						ATTCCTGTGGCTTTTTCCTTG	0.453																																						ENST00000350549.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						c.(511-513)aGc>aAc		protease, serine, 37							127.0	125.0	126.0					7																	141536967		2203	4300	6503	SO:0001583	missense	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141536967C>T		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.512G>A	7.37:g.141536967C>T	ENSP00000297767:p.Ser171Asn					PRSS37_ENST00000438520.1_Missense_Mutation_p.S171N	p.S171N	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN			4	883	-			171			Peptidase S1.		B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	c.512G>A	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292501	0.23564	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.88586	-2.4;-2.4	5.65	-6.19	0.02078	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.598792	0.17938	N	0.156925	T	0.74015	0.3661	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.59386	-0.7464	10	0.72032	D	0.01	.	0.4314	0.00472	0.2108:0.2234:0.2076:0.3581	.	170;171	B7ZMK3;A4D1T9	.;PRS37_HUMAN	N	171	ENSP00000297767:S171N;ENSP00000414461:S171N	ENSP00000297767:S171N	S	-	2	0	PRSS37	141183436	0.020000	0.18652	0.000000	0.03702	0.412000	0.31113	-0.062000	0.11674	-1.045000	0.03250	-0.175000	0.13238	AGC		0.453	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		19	83	0	0	0	1	0	19	83				
DOCK10	55619	broad.mit.edu	37	2	225684176	225684176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:225684176G>A	ENST00000258390.7	-	29	3321	c.3254C>T	c.(3253-3255)tCc>tTc	p.S1085F	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1079F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1085					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGGTCACCGGAGGAGAACAT	0.363																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3235-3237)tCc>tTc		dedicator of cytokinesis 10							118.0	115.0	116.0					2																	225684176		1879	4108	5987	SO:0001583	missense	55619						GTP binding	g.chr2:225684176G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3254C>T	2.37:g.225684176G>A	ENSP00000258390:p.Ser1085Phe					DOCK10_ENST00000258390.7_Missense_Mutation_p.S1085F	p.S1079F			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	29	3349	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1085					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.3236C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694566	0.68386	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.72167	3.4;-0.63	6.15	6.15	0.99193	.	0.252547	0.44097	D	0.000491	T	0.68943	0.3056	L	0.43923	1.385	0.34774	D	0.734071	P;P	0.44309	0.832;0.736	B;B	0.41271	0.352;0.352	T	0.76759	-0.2841	10	0.62326	D	0.03	.	20.8387	0.99724	0.0:0.0:1.0:0.0	.	1085;1079	Q96BY6;B3FL70	DOC10_HUMAN;.	F	1079;1085	ENSP00000386694:S1079F;ENSP00000258390:S1085F	ENSP00000258390:S1085F	S	-	2	0	DOCK10	225392420	0.997000	0.39634	0.989000	0.46669	0.751000	0.42716	6.306000	0.72810	2.932000	0.99384	0.643000	0.83706	TCC		0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			14	40	0	0	0	1	0	14	40				
C17orf107	100130311	broad.mit.edu	37	17	4800051	4800051	+	5'Flank	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4800051G>A	ENST00000381365.3	+	0	0				MINK1_ENST00000355280.6_Silent_p.G1286G|C17orf107_ENST00000521575.1_5'Flank|MINK1_ENST00000453408.3_Silent_p.G1266G|MINK1_ENST00000347992.7_Silent_p.G1257G	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107											endometrium(2)	2						ACCTCGACGGGGTCTTCATGC	0.587																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(3856-3858)ggG>ggA		misshapen-like kinase 1							50.0	55.0	54.0					17																	4800051		2014	4169	6183	SO:0001631	upstream_gene_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4800051G>A	AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		17.37:g.4800051G>A	Exception_encountered					MINK1_ENST00000347992.7_Silent_p.G1257G|MINK1_ENST00000453408.3_Silent_p.G1266G	p.G1286G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			31	4054	+			1286			CNH.|Mediates interaction with RAP2A.			Silent	SNP	ENST00000381365.3	37	c.3858G>A	CCDS45591.1																																																																																				0.587	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380556.1	NM_001145536		7	21	0	0	0	1	0	7	21				
CLIC6	54102	broad.mit.edu	37	21	36088630	36088630	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:36088630G>A	ENST00000360731.3	+	7	1965	c.1965G>A	c.(1963-1965)aaG>aaA	p.K655K	CLIC6_ENST00000349499.2_Silent_p.K637K			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	655	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TTGTGGCCAAGAAGTACAGAG	0.403																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1963-1965)aaG>aaA		chloride intracellular channel 6							150.0	140.0	143.0					21																	36088630		2203	4300	6503	SO:0001819	synonymous_variant	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36088630G>A	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1965G>A	21.37:g.36088630G>A						CLIC6_ENST00000349499.2_Silent_p.K637K	p.K655K			Q96NY7	CLIC6_HUMAN			7	1965	+			655			GST C-terminal.		A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37	c.1965G>A																																																																																					0.403	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			5	79	0	0	0	1	0	5	79				
PKD1L1	168507	broad.mit.edu	37	7	47866996	47866996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:47866996C>T	ENST00000289672.2	-	45	6856	c.6806G>A	c.(6805-6807)gGc>gAc	p.G2269D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2269					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGTCTGGTGCCCCTCAGCTG	0.652																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(6805-6807)gGc>gAc		polycystic kidney disease 1 like 1							84.0	70.0	75.0					7																	47866996		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47866996C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6806G>A	7.37:g.47866996C>T	ENSP00000289672:p.Gly2269Asp						p.G2269D	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			45	6856	-			2269					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.6806G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	2.944	-0.218326	0.06101	.	.	ENSG00000158683	ENST00000289672	T	0.18960	2.18	5.29	-10.6	0.00265	.	1.821940	0.02966	N	0.143840	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20338	-1.0278	10	0.12103	T	0.63	-2.0647	2.2742	0.04098	0.1462:0.1947:0.4182:0.2409	.	2269	Q8TDX9	PK1L1_HUMAN	D	2269	ENSP00000289672:G2269D	ENSP00000289672:G2269D	G	-	2	0	PKD1L1	47833521	0.000000	0.05858	0.000000	0.03702	0.341000	0.28922	-1.530000	0.02221	-2.007000	0.00956	-0.264000	0.10439	GGC		0.652	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		4	42	0	0	0	1	0	4	42				
SGOL1	151648	broad.mit.edu	37	3	20225409	20225409	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:20225409C>T	ENST00000263753.4	-	2	250	c.111G>A	c.(109-111)agG>agA	p.R37R	SGOL1_ENST00000437051.1_Silent_p.R37R|SGOL1_ENST00000442720.1_Silent_p.R37R|SGOL1_ENST00000383774.1_Silent_p.R37R|SGOL1_ENST00000425061.1_Silent_p.R37R|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412997.1_Silent_p.R37R|SGOL1_ENST00000417364.1_Silent_p.R37R|SGOL1_ENST00000412868.1_Silent_p.R37R|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000421451.1_Silent_p.R37R|SGOL1_ENST00000452020.1_Silent_p.R37R|SGOL1_ENST00000443724.1_Silent_p.R37R|SGOL1_ENST00000419233.2_Silent_p.R37R|SGOL1_ENST00000306698.2_Silent_p.R37R|SGOL1_ENST00000429446.3_Silent_p.R37R	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	37	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CTATAAAAGACCTGCGTTTGC	0.308																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(109-111)agG>agA		shugoshin-like 1 (S. pombe)							112.0	109.0	110.0					3																	20225409		2203	4300	6503	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20225409C>T	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.111G>A	3.37:g.20225409C>T						SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000429446.3_Silent_p.R37R|SGOL1_ENST00000383774.1_Silent_p.R37R|SGOL1_ENST00000412868.1_Silent_p.R37R|SGOL1_ENST00000442720.1_Silent_p.R37R|SGOL1_ENST00000452020.1_Silent_p.R37R|SGOL1_ENST00000437051.1_Silent_p.R37R|SGOL1_ENST00000425061.1_Silent_p.R37R|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Silent_p.R37R|SGOL1_ENST00000421451.1_Silent_p.R37R|SGOL1_ENST00000263753.4_Silent_p.R37R|SGOL1_ENST00000419233.2_Silent_p.R37R|SGOL1_ENST00000443724.1_Silent_p.R37R|SGOL1_ENST00000306698.2_Silent_p.R37R	p.R37R	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			2	462	-			37			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.111G>A	CCDS33716.1																																																																																				0.308	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		33	60	0	0	0	1	0	33	60				
CAPRIN1	4076	broad.mit.edu	37	11	34118078	34118078	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:34118078C>T	ENST00000341394.4	+	16	1947	c.1758C>T	c.(1756-1758)aaC>aaT	p.N586N	CAPRIN1_ENST00000389645.3_Silent_p.N586N|CAPRIN1_ENST00000529307.1_Silent_p.N505N|CAPRIN1_ENST00000532820.1_Silent_p.N586N|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000530820.1_Silent_p.N586N	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	586					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TGACTGGTAACCACCAGCAGC	0.468																																						ENST00000341394.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18						c.(1756-1758)aaC>aaT		cell cycle associated protein 1							88.0	86.0	87.0					11																	34118078		2202	4298	6500	SO:0001819	synonymous_variant	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34118078C>T	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1758C>T	11.37:g.34118078C>T						CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000529307.1_Silent_p.N505N|CAPRIN1_ENST00000532820.1_Silent_p.N586N|CAPRIN1_ENST00000530820.1_Silent_p.N586N|CAPRIN1_ENST00000389645.3_Silent_p.N586N	p.N586N	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN			16	1947	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	586					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Silent	SNP	ENST00000341394.4	37	c.1758C>T	CCDS31453.1																																																																																				0.468	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		34	91	0	0	0	1	0	34	91				
POMGNT2	84892	broad.mit.edu	37	3	43122373	43122373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:43122373C>T	ENST00000344697.2	-	2	896	c.551G>A	c.(550-552)gGc>gAc	p.G184D	POMGNT2_ENST00000441964.1_Missense_Mutation_p.G184D	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	184					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GTGGGCCAGGCCGGGAAACTG	0.632																																						ENST00000344697.2																			0											c.(550-552)gGc>gAc									58.0	51.0	54.0					3																	43122373		2203	4300	6503	SO:0001583	missense	0							g.chr3:43122373C>T	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.551G>A	3.37:g.43122373C>T	ENSP00000344125:p.Gly184Asp					GTDC2_ENST00000441964.1_Missense_Mutation_p.G184D	p.G184D	NM_032806.4	NP_116195.2					2	896	-								B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.551G>A	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471681	0.26423	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.79749	-1.3;-1.3	5.77	3.96	0.45880	.	0.050581	0.85682	D	0.000000	T	0.53578	0.1805	N	0.02539	-0.55	0.39743	D	0.971776	B	0.02656	0.0	B	0.04013	0.001	T	0.53479	-0.8433	10	0.33141	T	0.24	-3.2771	6.5174	0.22256	0.0:0.7363:0.0:0.2637	.	184	Q8NAT1	AGO61_HUMAN	D	184	ENSP00000408992:G184D;ENSP00000344125:G184D	ENSP00000344125:G184D	G	-	2	0	C3orf39	43097377	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	5.062000	0.64326	2.712000	0.92718	0.655000	0.94253	GGC		0.632	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		17	54	0	0	0	1	0	17	54				
SMC3	9126	broad.mit.edu	37	10	112361499	112361499	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:112361499C>T	ENST00000361804.4	+	24	2875	c.2749C>T	c.(2749-2751)Cat>Tat	p.H917Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	917					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGCTATAAATCATGATACTAA	0.368																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2749-2751)Cat>Tat		structural maintenance of chromosomes 3							108.0	115.0	113.0					10																	112361499		2203	4299	6502	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361499C>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2749C>T	10.37:g.112361499C>T	ENSP00000354720:p.His917Tyr						p.H917Y	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	24	2875	+		Breast(234;0.0848)|Lung NSC(174;0.238)	917					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2749C>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216735	0.58452	.	.	ENSG00000108055	ENST00000361804	T	0.75938	-0.98	5.41	5.41	0.78517	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	N	0.08118	0	0.80722	D	1	P	0.48911	0.917	P	0.45538	0.484	T	0.72459	-0.4287	10	0.72032	D	0.01	.	19.5597	0.95367	0.0:1.0:0.0:0.0	.	917	Q9UQE7	SMC3_HUMAN	Y	917	ENSP00000354720:H917Y	ENSP00000354720:H917Y	H	+	1	0	SMC3	112351489	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.354000	0.79424	2.704000	0.92352	0.585000	0.79938	CAT		0.368	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		41	87	0	0	0	1	0	41	87				
PRL	5617	broad.mit.edu	37	6	22292854	22292854	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:22292854G>A	ENST00000306482.1	-	3	743	c.225C>T	c.(223-225)ggC>ggT	p.G75G	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	75					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGAACCCCCGGCCATGGGTAT	0.453																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(223-225)ggC>ggT		prolactin							100.0	83.0	89.0					6																	22292854		2203	4300	6503	SO:0001819	synonymous_variant	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22292854G>A	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.225C>T	6.37:g.22292854G>A						RP3-404K8.2_ENST00000561912.1_RNA	p.G75G	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			3	743	-	Ovarian(93;0.163)		75					Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	c.225C>T	CCDS4548.1																																																																																				0.453	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		19	34	0	0	0	1	0	19	34				
SLC22A7	10864	broad.mit.edu	37	6	43272430	43272430	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43272430G>A	ENST00000372585.5	+	11	1709	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	ZNF318_ENST00000607252.1_5'Flank|SLC22A7_ENST00000372589.3_Silent_p.E536E	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	538					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTCTTCAGGAGGAAGAGATGC	0.612																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1612-1614)gaG>gaA		solute carrier family 22 (organic anion transporter), member 7							103.0	84.0	90.0					6																	43272430		2203	4300	6503	SO:0001819	synonymous_variant	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43272430G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1614G>A	6.37:g.43272430G>A						SLC22A7_ENST00000372589.3_Silent_p.E536E	p.E538E	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		11	1709	+			538					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	37	c.1614G>A	CCDS4893.2																																																																																				0.612	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			30	40	0	0	0	1	0	30	40				
PIGW	284098	broad.mit.edu	37	17	34893000	34893000	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:34893000C>G	ENST00000592983.1	+	2	630	c.50C>G	c.(49-51)aCc>aGc	p.T17S	MYO19_ENST00000431794.3_5'Flank|MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.T17S|MYO19_ENST00000268852.9_5'Flank|MYO19_ENST00000586007.1_5'Flank|MYO19_ENST00000544606.1_5'Flank			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	17					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCAATGGAACCACCGTGCTG	0.423																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(49-51)aCc>aGc		phosphatidylinositol glycan anchor biosynthesis, class W							174.0	157.0	163.0					17																	34893000		2203	4300	6503	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893000C>G	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.50C>G	17.37:g.34893000C>G	ENSP00000468778:p.Thr17Ser					MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.T17S	p.T17S			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	630	+		Breast(25;0.00957)|Ovarian(249;0.17)	17					Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.50C>G	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354040	0.82243	.	.	ENSG00000184886	ENST00000429467;ENST00000328396	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63161	-0.6699	9	0.12103	T	0.63	-8.2408	19.3249	0.94258	0.0:1.0:0.0:0.0	.	17	Q7Z7B1	PIGW_HUMAN	S	17	.	ENSP00000332313:T17S	T	+	2	0	PIGW	31967113	1.000000	0.71417	0.824000	0.32777	0.994000	0.84299	7.219000	0.78000	2.805000	0.96524	0.655000	0.94253	ACC		0.423	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		39	63	0	0	0	1	0	39	63				
HAS1	3036	broad.mit.edu	37	19	52219566	52219566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52219566G>A	ENST00000222115.1	-	4	1038	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I	HAS1_ENST00000594621.1_Intron|HAS1_ENST00000540069.2_Missense_Mutation_p.T334I|HAS1_ENST00000601714.1_Missense_Mutation_p.T342I	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	335					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATCCCCAAAAGTACAGTGGGT	0.542																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1000-1002)aCt>aTt		hyaluronan synthase 1							118.0	107.0	111.0					19																	52219566		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52219566G>A	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1004C>T	19.37:g.52219566G>A	ENSP00000222115:p.Thr335Ile					HAS1_ENST00000222115.1_Missense_Mutation_p.T335I|HAS1_ENST00000601714.1_Missense_Mutation_p.T342I|HAS1_ENST00000594621.1_Intron	p.T334I			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	4	1061	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	335					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1001C>T	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	16.79	3.220070	0.58560	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.39997	1.05;1.05	3.35	3.35	0.38373	.	0.294112	0.30704	U	0.009041	T	0.56441	0.1985	M	0.70275	2.135	0.58432	D	0.999997	P;P;P	0.43788	0.781;0.715;0.817	P;P;P	0.55345	0.665;0.603;0.774	T	0.62158	-0.6913	10	0.66056	D	0.02	-29.8696	12.592	0.56447	0.0:0.0:1.0:0.0	.	334;335;334	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	I	334;335	ENSP00000445021:T334I;ENSP00000222115:T335I	ENSP00000222115:T335I	T	-	2	0	HAS1	56911378	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	4.425000	0.59875	1.608000	0.50180	0.165000	0.16767	ACT		0.542	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		29	51	0	0	0	1	0	29	51				
FUS	2521	broad.mit.edu	37	16	31195548	31195548	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:31195548G>A	ENST00000254108.7	+	5	459	c.354G>A	c.(352-354)caG>caA	p.Q118Q	RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Silent_p.Q118Q|FUS_ENST00000380244.3_Silent_p.Q117Q	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	118	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GCAGTTCTCAGAGCAGCAGCT	0.493			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(352-354)caG>caA		fused in sarcoma							108.0	107.0	107.0					16																	31195548		2197	4300	6497	SO:0001819	synonymous_variant	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31195548G>A	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.354G>A	16.37:g.31195548G>A						FUS_ENST00000568685.1_Silent_p.Q118Q|FUS_ENST00000380244.3_Silent_p.Q117Q	p.Q118Q	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	5	459	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	118			Gln/Gly/Ser/Tyr-rich.		Q9H4A8	Silent	SNP	ENST00000254108.7	37	c.354G>A	CCDS10707.1																																																																																				0.493	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		9	130	0	0	0	1	0	9	130				
VGF	7425	broad.mit.edu	37	7	100807527	100807527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100807527G>A	ENST00000249330.2	-	2	837	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	VGF_ENST00000445482.2_Missense_Mutation_p.P200S	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	200					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TCTGGCCCCGGGCTCTCCAGA	0.697																																						ENST00000249330.2																			0				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9						c.(598-600)Ccg>Tcg		VGF nerve growth factor inducible							16.0	18.0	17.0					7																	100807527		2154	4206	6360	SO:0001583	missense	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100807527G>A	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.598C>T	7.37:g.100807527G>A	ENSP00000249330:p.Pro200Ser					VGF_ENST00000445482.2_Missense_Mutation_p.P200S	p.P200S	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN			2	837	-	Lung NSC(181;0.168)|all_lung(186;0.215)		200					Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	37	c.598C>T	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580483	0.46006	.	.	ENSG00000128564	ENST00000249330;ENST00000448792;ENST00000445482	.	.	.	4.47	4.47	0.54385	.	0.275088	0.25704	N	0.028856	T	0.52403	0.1732	N	0.19112	0.55	0.32850	D	0.506517	D	0.89917	1.0	D	0.83275	0.996	T	0.64041	-0.6500	9	0.87932	D	0	-9.9592	12.4759	0.55814	0.0:0.0:1.0:0.0	.	200	O15240	VGF_HUMAN	S	200	.	ENSP00000249330:P200S	P	-	1	0	VGF	100594247	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.316000	0.51960	2.330000	0.79161	0.561000	0.74099	CCG		0.697	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		16	35	0	0	0	1	0	16	35				
KIRREL	55243	broad.mit.edu	37	1	158058198	158058198	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:158058198G>A	ENST00000359209.6	+	8	1065	c.998G>A	c.(997-999)gGg>gAg	p.G333E	KIRREL_ENST00000368173.3_Missense_Mutation_p.G333E|KIRREL_ENST00000368172.1_Missense_Mutation_p.G131E|KIRREL_ENST00000416935.2_Missense_Mutation_p.G233E|KIRREL_ENST00000392272.2_Missense_Mutation_p.G230E|KIRREL_ENST00000360089.4_Missense_Mutation_p.G169E			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	333	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GTCTGGGTTGGGAATCCCCCC	0.453																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(391-393)gGg>gAg		kin of IRRE like (Drosophila)							114.0	112.0	113.0					1																	158058198		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158058198G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.998G>A	1.37:g.158058198G>A	ENSP00000352138:p.Gly333Glu					KIRREL_ENST00000360089.4_Missense_Mutation_p.G169E|KIRREL_ENST00000392272.2_Missense_Mutation_p.G230E|KIRREL_ENST00000368173.3_Missense_Mutation_p.G333E|KIRREL_ENST00000416935.2_Missense_Mutation_p.G233E|KIRREL_ENST00000359209.6_Missense_Mutation_p.G333E	p.G131E			Q96J84	KIRR1_HUMAN			4	404	+	all_hematologic(112;0.0378)		333			Ig-like C2-type 2.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.392G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881072	0.91740	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	5.2	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000962	T	0.70727	0.3257	H	0.97806	4.08	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	0.82778	-0.0289	10	0.87932	D	0	-40.5653	16.2194	0.82247	0.0:0.0:1.0:0.0	.	233;169;131;333	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	E	169;333;230;333;233;131	ENSP00000353202:G169E;ENSP00000357155:G333E;ENSP00000376098:G230E;ENSP00000352138:G333E;ENSP00000389674:G233E;ENSP00000357154:G131E	ENSP00000352138:G333E	G	+	2	0	KIRREL	156324822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.055000	0.93873	2.424000	0.82194	0.557000	0.71058	GGG		0.453	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		39	50	0	0	0	1	0	39	50				
HECTD4	283450	broad.mit.edu	37	12	112645748	112645748	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:112645748G>A	ENST00000430131.2	-	51	7940	c.6795C>T	c.(6793-6795)atC>atT	p.I2265I	HECTD4_ENST00000377560.5_Silent_p.I2515I|HECTD4_ENST00000550722.1_Silent_p.I2541I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2265					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGCGTCTTCGGATGGTAGGAA	0.512																																						ENST00000550722.1																			0											c.(7621-7623)atC>atT		HECT domain containing E3 ubiquitin protein ligase 4							75.0	73.0	74.0					12																	112645748		1907	4119	6026	SO:0001819	synonymous_variant	283450							g.chr12:112645748G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6795C>T	12.37:g.112645748G>A						HECTD4_ENST00000430131.2_Silent_p.I2265I|HECTD4_ENST00000377560.5_Silent_p.I2515I	p.I2541I	NM_001109662.3	NP_001103132.3					52	8018	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.7623C>T		.	.	.	.	.	.	.	.	.	.	G	10.68	1.417271	0.25552	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.17	4.09	0.47781	.	.	.	.	.	T	0.45316	0.1336	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44406	-0.9330	4	.	.	.	.	2.1537	0.03807	0.2369:0.0:0.4194:0.3437	.	.	.	.	F	432	.	.	S	-	2	0	C12orf51	111130131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.701000	0.47094	1.555000	0.49500	0.655000	0.94253	TCC		0.512	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		6	19	0	0	0	1	0	6	19				
TACC2	10579	broad.mit.edu	37	10	124008229	124008229	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:124008229C>T	ENST00000369005.1	+	20	8804	c.8464C>T	c.(8464-8466)Ctg>Ttg	p.L2822L	TACC2_ENST00000515603.1_Silent_p.L2700L|TACC2_ENST00000260733.3_Silent_p.L900L|TACC2_ENST00000369000.1_Silent_p.L445L|TACC2_ENST00000369001.1_Silent_p.L449L|TACC2_ENST00000358010.1_Silent_p.L968L|TACC2_ENST00000513429.1_Silent_p.L968L|TACC2_ENST00000368999.1_Silent_p.L912L|TACC2_ENST00000515273.1_Silent_p.L2749L|TACC2_ENST00000453444.2_Silent_p.L2749L|TACC2_ENST00000360561.3_Silent_p.L870L|TACC2_ENST00000369004.3_Silent_p.L882L|TACC2_ENST00000334433.3_Silent_p.L2822L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2822					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGCAAGCCCTGGCCGACCT	0.562																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8464-8466)Ctg>Ttg		transforming, acidic coiled-coil containing protein 2							111.0	120.0	117.0					10																	124008229		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124008229C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8464C>T	10.37:g.124008229C>T						TACC2_ENST00000369004.3_Silent_p.L882L|TACC2_ENST00000369000.1_Silent_p.L445L|TACC2_ENST00000368999.1_Silent_p.L912L|TACC2_ENST00000358010.1_Silent_p.L968L|TACC2_ENST00000453444.2_Silent_p.L2749L|TACC2_ENST00000260733.3_Silent_p.L900L|TACC2_ENST00000515603.1_Silent_p.L2700L|TACC2_ENST00000515273.1_Silent_p.L2749L|TACC2_ENST00000360561.3_Silent_p.L870L|TACC2_ENST00000513429.1_Silent_p.L968L|TACC2_ENST00000369001.1_Silent_p.L449L|TACC2_ENST00000334433.3_Silent_p.L2822L	p.L2822L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			20	8804	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2822					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.8464C>T	CCDS7626.1																																																																																				0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			7	76	0	0	0	1	0	7	76				
ADAP2	55803	broad.mit.edu	37	17	29261276	29261276	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:29261276G>A	ENST00000330889.3	+	5	806	c.471G>A	c.(469-471)ctG>ctA	p.L157L	ADAP2_ENST00000580525.1_Silent_p.L163L	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	157	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGTACTTCTGGCAAGAGAAG	0.498																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(469-471)ctG>ctA		ArfGAP with dual PH domains 2							96.0	80.0	85.0					17																	29261276		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29261276G>A	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.471G>A	17.37:g.29261276G>A						ADAP2_ENST00000580525.1_Silent_p.L163L	p.L157L	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			5	806	+			157			PH 1.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.471G>A	CCDS11261.1																																																																																				0.498	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		12	28	0	0	0	1	0	12	28				
PPIA	5478	broad.mit.edu	37	7	44836377	44836377	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44836377C>T	ENST00000468812.1	+	1	99	c.54C>T	c.(52-54)ggC>ggT	p.G18G	PPIA_ENST00000489459.1_5'UTR|PPIA_ENST00000355968.6_5'UTR|PPIA_ENST00000451562.1_Silent_p.G18G	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	18	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	AGCCCTTGGGCCGCGTCTCCT	0.682																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)	ENST00000468812.1																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(52-54)ggC>ggT		peptidylprolyl isomerase A (cyclophilin A)	Cyclosporine(DB00091)|L-Proline(DB00172)						34.0	39.0	37.0					7																	44836377		2193	4278	6471	SO:0001819	synonymous_variant	5478				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding	g.chr7:44836377C>T	X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.54C>T	7.37:g.44836377C>T						PPIA_ENST00000355968.6_5'UTR|PPIA_ENST00000489459.1_5'UTR|PPIA_ENST00000451562.1_Silent_p.G18G	p.G18G	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN			1	99	+			18			PPIase cyclophilin-type.		A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Silent	SNP	ENST00000468812.1	37	c.54C>T	CCDS5494.1																																																																																				0.682	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251293.1	NM_021130		13	132	0	0	0	1	0	13	132				
RPRD2	23248	broad.mit.edu	37	1	150429857	150429857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:150429857C>T	ENST00000369068.4	+	8	968	c.964C>T	c.(964-966)Cct>Tct	p.P322S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.P296S|RPRD2_ENST00000539519.1_Missense_Mutation_p.P296S	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	322						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				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						ATCACCAGTTCCTTCCCCAAG	0.463																																						ENST00000401000.4																			0				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						c.(886-888)Cct>Tct		regulation of nuclear pre-mRNA domain containing 2							144.0	137.0	139.0					1																	150429857		1910	4128	6038	SO:0001583	missense	23248						protein binding	g.chr1:150429857C>T	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.964C>T	1.37:g.150429857C>T	ENSP00000358064:p.Pro322Ser					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.P296S|RPRD2_ENST00000369068.4_Missense_Mutation_p.P322S	p.P296S			Q5VT52	RPRD2_HUMAN			7	951	+			322					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.886C>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835600	0.91117	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.52754	0.7;0.68;0.65	5.04	5.04	0.67666	.	0.099573	0.64402	D	0.000001	T	0.62950	0.2470	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.981;0.991;0.998	T	0.62416	-0.6859	10	0.52906	T	0.07	-11.5574	18.9381	0.92594	0.0:1.0:0.0:0.0	.	296;322;296	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	S	296;296;322	ENSP00000383785:P296S;ENSP00000445482:P296S;ENSP00000358064:P322S	ENSP00000358064:P322S	P	+	1	0	RPRD2	148696481	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.116000	0.77119	2.765000	0.95021	0.643000	0.83706	CCT		0.463	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		10	112	0	0	0	1	0	10	112				
ATP6V1C2	245973	broad.mit.edu	37	2	10908862	10908862	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:10908862G>A	ENST00000272238.4	+	6	505	c.396G>A	c.(394-396)gaG>gaA	p.E132E	RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000381661.3_Silent_p.E132E	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	132					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CGCAGATCGAGATGGACCTGA	0.498																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(394-396)gaG>gaA		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							70.0	75.0	73.0					2																	10908862		2203	4300	6503	SO:0001819	synonymous_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10908862G>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.396G>A	2.37:g.10908862G>A						ATP6V1C2_ENST00000272238.4_Silent_p.E132E|RP11-791G15.2_ENST00000606907.1_lincRNA	p.E132E	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	6	505	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		132					Q96EL8	Silent	SNP	ENST00000272238.4	37	c.396G>A	CCDS42653.1																																																																																				0.498	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		23	46	0	0	0	1	0	23	46				
SPG7	6687	broad.mit.edu	37	16	89613092	89613092	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89613092C>T	ENST00000268704.2	+	11	1491	c.1476C>T	c.(1474-1476)caC>caT	p.H492H		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	492					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TTGAGCAGCACCTGAAGAGCC	0.572																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1474-1476)caC>caT		spastic paraplegia 7 (pure and complicated autosomal recessive)							97.0	97.0	97.0					16																	89613092		2198	4300	6498	SO:0001819	synonymous_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89613092C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1476C>T	16.37:g.89613092C>T							p.H492H	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	11	1491	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	492					O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1476C>T	CCDS10977.1																																																																																				0.572	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		18	47	0	0	0	1	0	18	47				
CYBB	1536	broad.mit.edu	37	X	37665762	37665762	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:37665762C>T	ENST00000378588.4	+	11	1504	c.1437C>T	c.(1435-1437)taC>taT	p.Y479Y	CYBB_ENST00000545017.1_Silent_p.Y447Y|CYBB_ENST00000536160.1_Silent_p.Y212Y|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	479					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	ACAACATCTACCTCACTGGCT	0.522																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32	GRCh37	CM085358	CYBB	M		c.(1435-1437)taC>taT		cytochrome b-245, beta polypeptide							86.0	66.0	72.0					X																	37665762		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37665762C>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1437C>T	X.37:g.37665762C>T						CYBB_ENST00000545017.1_Silent_p.Y447Y|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Silent_p.Y212Y	p.Y479Y	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			11	1504	+			479					A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.1437C>T	CCDS14242.1																																																																																				0.522	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			5	26	0	0	0	1	0	5	26				
NACA	4666	broad.mit.edu	37	12	57111022	57111022	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57111022C>T	ENST00000454682.1	-	3	4573	c.4292G>A	c.(4291-4293)gGa>gAa	p.G1431E	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1431	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTGAGATCTCCTTTGGATGG	0.597			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(4291-4293)gGa>gAa		nascent polypeptide-associated complex alpha subunit							29.0	29.0	29.0					12																	57111022		1566	3579	5145	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111022C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4292G>A	12.37:g.57111022C>T	ENSP00000403817:p.Gly1431Glu					NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron	p.G1431E	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4573	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.4292G>A		.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207782	0.06180	.	.	ENSG00000196531	ENST00000454682	T	0.54071	0.59	3.19	-1.46	0.08800	.	.	.	.	.	T	0.29126	0.0724	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17107	-1.0380	7	.	.	.	.	3.8044	0.08771	0.1739:0.4745:0.0:0.3516	.	1431	E9PAV3	.	E	1431	ENSP00000403817:G1431E	.	G	-	2	0	NACA	55397289	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.728000	0.00807	0.058000	0.16222	-0.736000	0.03550	GGA		0.597	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		3	33	0	0	0	1	0	3	33				
GPRASP2	114928	broad.mit.edu	37	X	101970089	101970089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:101970089C>T	ENST00000535209.1	+	4	1123	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	GPRASP2_ENST00000543253.1_Missense_Mutation_p.P98S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.P98S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	98						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGGGCCAGGCCCAAAACCGA	0.587																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(292-294)Ccc>Tcc		G protein-coupled receptor associated sorting protein 2							76.0	78.0	77.0					X																	101970089		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970089C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.292C>T	X.37:g.101970089C>T	ENSP00000437394:p.Pro98Ser					GPRASP2_ENST00000332262.5_Missense_Mutation_p.P98S|GPRASP2_ENST00000535209.1_Missense_Mutation_p.P98S	p.P98S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1211	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.292C>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	5.700	0.313715	0.10789	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.15139	2.45;2.45;2.45	4.76	2.9	0.33743	.	0.344689	0.21440	N	0.074516	T	0.10252	0.0251	L	0.29908	0.895	0.19575	N	0.999966	B	0.16396	0.017	B	0.14578	0.011	T	0.29397	-1.0013	10	0.19590	T	0.45	.	6.0576	0.19820	0.1926:0.7016:0.0:0.1057	.	98	Q96D09	GASP2_HUMAN	S	98	ENSP00000437872:P98S;ENSP00000437394:P98S;ENSP00000339057:P98S	ENSP00000339057:P98S	P	+	1	0	GPRASP2	101856745	0.000000	0.05858	0.051000	0.19133	0.008000	0.06430	-0.192000	0.09587	1.024000	0.39682	0.600000	0.82982	CCC		0.587	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		55	93	0	0	0	1	0	55	93				
HMMR	3161	broad.mit.edu	37	5	162894710	162894710	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:162894710G>A	ENST00000358715.3	+	4	262	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	HMMR_ENST00000353866.3_Intron|HMMR_ENST00000432118.2_Intron|HMMR_ENST00000393915.4_Missense_Mutation_p.E77K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	76					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TAAACAGAAGGAATCTCAAAA	0.308																																						ENST00000393915.4																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(229-231)Gaa>Aaa		hyaluronan-mediated motility receptor (RHAMM)							42.0	44.0	43.0					5																	162894710		2202	4298	6500	SO:0001630	splice_region_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162894710G>A	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.226-1G>A	5.37:g.162894710G>A						HMMR_ENST00000353866.3_Intron|HMMR_ENST00000358715.3_Splice_Site_p.E76_splice|HMMR_ENST00000416990.2_5'UTR|HMMR_ENST00000432118.2_Intron	p.E77K	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	4	372	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	76					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.229G>A	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	9.441	1.088149	0.20390	.	.	ENSG00000072571	ENST00000393915;ENST00000426586;ENST00000358715	T;T	0.79141	-1.24;-1.24	5.57	2.78	0.32641	.	0.249108	0.44688	N	0.000432	T	0.57198	0.2037	L	0.27053	0.805	0.24084	N	0.995939	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.35251	-0.9796	10	0.06365	T	0.9	-7.6522	7.2526	0.26158	0.2595:0.0:0.7405:0.0	.	77;76	O75330-3;O75330	.;HMMR_HUMAN	K	77;77;76	ENSP00000377492:E77K;ENSP00000351554:E76K	ENSP00000351554:E76K	E	+	1	0	HMMR	162827288	0.418000	0.25440	0.942000	0.38095	0.986000	0.74619	1.109000	0.31135	1.344000	0.45657	0.591000	0.81541	GAA		0.308	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	Missense_Mutation	5	80	0	0	0	1	0	5	80				
ARID1B	57492	broad.mit.edu	37	6	157522078	157522078	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:157522078C>T	ENST00000350026.5	+	17	4312	c.4311C>T	c.(4309-4311)ggC>ggT	p.G1437G	ARID1B_ENST00000275248.4_Silent_p.G1432G|ARID1B_ENST00000367148.1_Silent_p.G1490G|ARID1B_ENST00000346085.5_Silent_p.G1450G	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1437					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGATGGGCGGCCCGCTGCAGT	0.642																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4348-4350)ggC>ggT		AT rich interactive domain 1B (SWI1-like)							27.0	31.0	30.0					6																	157522078		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522078C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4311C>T	6.37:g.157522078C>T						ARID1B_ENST00000275248.4_Silent_p.G1432G|ARID1B_ENST00000350026.5_Silent_p.G1437G|ARID1B_ENST00000367148.1_Silent_p.G1490G	p.G1450G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4351	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1437					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.4350C>T	CCDS5251.2																																																																																				0.642	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		14	26	0	0	0	1	0	14	26				
TBC1D2B	23102	broad.mit.edu	37	15	78316509	78316509	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:78316509C>T	ENST00000300584.3	-	6	1458	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D487N	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	487							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTCAGCCTGTCCAGTTCCAGC	0.632																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1459-1461)Gac>Aac		TBC1 domain family, member 2B							29.0	29.0	29.0					15																	78316509		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78316509C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1459G>A	15.37:g.78316509C>T	ENSP00000300584:p.Asp487Asn					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.D487N	p.D487N			Q9UPU7	TBD2B_HUMAN			6	1530	-			487					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.1459G>A	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.87|13.87	2.367033|2.367033	0.41902|0.41902	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.08458|.	3.09;3.09|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.144809|.	0.64402|.	D|.	0.000008|.	T|.	0.56031|.	0.1958|.	L|L	0.41710|0.41710	1.295|1.295	0.45056|0.45056	D|D	0.998072|0.998072	B;B|.	0.14012|.	0.009;0.002|.	B;B|.	0.15484|.	0.013;0.004|.	T|.	0.52909|.	-0.8512|.	10|.	0.34782|.	T|.	0.22|.	.|.	10.7666|10.7666	0.46297|0.46297	0.0:0.9131:0.0:0.0869|0.0:0.9131:0.0:0.0869	.|.	487;487|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	N|X	487|368	ENSP00000387165:D487N;ENSP00000300584:D487N|.	ENSP00000300584:D487N|.	D|W	-|-	1|3	0|0	TBC1D2B|TBC1D2B	76103564|76103564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.517000|0.517000	0.34286|0.34286	2.319000|2.319000	0.43788|0.43788	2.291000|2.291000	0.77112|0.77112	0.491000|0.491000	0.48974|0.48974	GAC|TGG		0.632	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		10	16	0	0	0	1	0	10	16				
ARID5B	84159	broad.mit.edu	37	10	63845643	63845643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:63845643C>T	ENST00000279873.7	+	9	1792	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P218L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	461					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)			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)					GCCCCAAAGCCCCAGGATGCA	0.448																																						ENST00000279873.7																			0				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						c.(1381-1383)cCc>cTc		AT rich interactive domain 5B (MRF1-like)							107.0	116.0	113.0					10																	63845643		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63845643C>T	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.1382C>T	10.37:g.63845643C>T	ENSP00000279873:p.Pro461Leu					ARID5B_ENST00000309334.5_Missense_Mutation_p.P218L	p.P461L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			9	1792	+	Prostate(12;0.016)|all_hematologic(501;0.215)		461					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1382C>T	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827792	0.50845	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.12984	2.63;2.63	5.77	4.87	0.63330	.	0.222920	0.40302	N	0.001123	T	0.10508	0.0257	L	0.32530	0.975	0.53688	D	0.999974	P;P	0.42871	0.792;0.788	B;B	0.37239	0.121;0.244	T	0.09378	-1.0677	10	0.44086	T	0.13	-14.3497	10.7408	0.46152	0.0:0.8003:0.1309:0.0688	.	218;461	Q14865-2;Q14865	.;ARI5B_HUMAN	L	461;218	ENSP00000279873:P461L;ENSP00000308862:P218L	ENSP00000279873:P461L	P	+	2	0	ARID5B	63515649	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.814000	0.38972	1.575000	0.49775	0.655000	0.94253	CCC		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		7	143	0	0	0	1	0	7	143				
SH3PXD2A	9644	broad.mit.edu	37	10	105386948	105386948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105386948C>T	ENST00000369774.4	-	9	892	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V41M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V73M|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.V68M|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V206M			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	206	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAAGTGCTCACGAACCACCAG	0.602																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(616-618)Gtg>Atg		SH3 and PX domains 2A							78.0	69.0	72.0					10																	105386948		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105386948C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.616G>A	10.37:g.105386948C>T	ENSP00000358789:p.Val206Met					SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V73M|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V206M|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V41M|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.V68M	p.V206M			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	9	892	-		Colorectal(252;0.0815)|Breast(234;0.131)	206			SH3 1.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.616G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.155902|5.155902	0.94686|0.94686	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T;T	.|0.72942	.|-0.7;1.2;1.2;1.2;1.2	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Src homology-3 domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88507|0.88507	0.6455|0.6455	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;0.995;1.0;0.978;0.998	.|D;P;D;P;D	.|0.73380	.|0.97;0.861;0.98;0.714;0.95	D|D	0.91072|0.91072	0.4893|0.4893	5|10	.|0.56958	.|D	.|0.05	-20.2697|-20.2697	17.7929|17.7929	0.88561|0.88561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|206;83;68;79;206	.|Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.;.	H|M	160|68;206;206;41;121;73;41	.|ENSP00000392664:V68M;ENSP00000358789:V206M;ENSP00000348215:V206M;ENSP00000443663:V73M;ENSP00000441514:V41M	.|ENSP00000318135:V41M	R|V	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105376938|105376938	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.988000|0.988000	0.76386|0.76386	7.468000|7.468000	0.80943|0.80943	2.503000|2.503000	0.84419|0.84419	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.602	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		5	48	0	0	0	1	0	5	48				
GUCY2C	2984	broad.mit.edu	37	12	14767858	14767858	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:14767858G>A	ENST00000261170.3	-	26	3126	c.2990C>T	c.(2989-2991)aCc>aTc	p.T997I	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	997					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAGCCAGTAGGTAGTCTCATT	0.478																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2989-2991)aCc>aTc		guanylate cyclase 2C (heat stable enterotoxin receptor)							142.0	96.0	112.0					12																	14767858		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14767858G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2990C>T	12.37:g.14767858G>A	ENSP00000261170:p.Thr997Ile					RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	p.T997I	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			26	3126	-			997					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2990C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937073	0.92458	.	.	ENSG00000070019	ENST00000261170	D	0.83075	-1.68	6.08	6.08	0.98989	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95550	0.8620	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	997	P25092	GUC2C_HUMAN	I	997	ENSP00000261170:T997I	ENSP00000261170:T997I	T	-	2	0	GUCY2C	14659125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.995000	0.93534	2.894000	0.99253	0.655000	0.94253	ACC		0.478	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			3	54	0	0	0	1	0	3	54				
SFSWAP	6433	broad.mit.edu	37	12	132250832	132250832	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:132250832G>A	ENST00000261674.4	+	13	2262	c.2121G>A	c.(2119-2121)gaG>gaA	p.E707E	SFSWAP_ENST00000541286.1_Silent_p.E707E	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	707					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGAAAATTGAGGAGAGTCCTT	0.478																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2119-2121)gaG>gaA		splicing factor, suppressor of white-apricot homolog (Drosophila)							154.0	162.0	159.0					12																	132250832		2203	4300	6503	SO:0001819	synonymous_variant	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132250832G>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2121G>A	12.37:g.132250832G>A						SFSWAP_ENST00000541286.1_Silent_p.E707E	p.E707E	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			13	2262	+			707					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	c.2121G>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	8.128	0.782461	0.16189	.	.	ENSG00000061936	ENST00000537164	.	.	.	5.49	1.17	0.20885	.	.	.	.	.	T	0.51669	0.1688	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41662	-0.9496	4	.	.	.	-38.7813	5.4187	0.16388	0.1416:0.1113:0.6329:0.1143	.	.	.	.	K	270	.	.	R	+	2	0	SFSWAP	130816785	1.000000	0.71417	0.966000	0.40874	0.886000	0.51366	0.681000	0.25320	0.619000	0.30197	0.591000	0.81541	AGG		0.478	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		11	159	0	0	0	1	0	11	159				
UFM1	51569	broad.mit.edu	37	13	38924143	38924143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:38924143G>A	ENST00000239878.4	+	2	49	c.10G>A	c.(10-12)Gtt>Att	p.V4I	UFM1_ENST00000379641.1_5'Flank|UFM1_ENST00000379649.1_5'UTR	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	4					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CAGGTCGAAGGTTTCCTTTAA	0.577																																						ENST00000239878.4																			0				lung(2)|ovary(1)	3						c.(10-12)Gtt>Att		ubiquitin-fold modifier 1							142.0	131.0	134.0					13																	38924143		2203	4300	6503	SO:0001583	missense	51569				protein ufmylation	cytoplasm|nucleus	protein binding	g.chr13:38924143G>A	AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"""chromosome 13 open reading frame 20"""	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.10G>A	13.37:g.38924143G>A	ENSP00000239878:p.Val4Ile					UFM1_ENST00000379649.1_5'UTR	p.V4I	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)	2	49	+		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)	4					Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Missense_Mutation	SNP	ENST00000239878.4	37	c.10G>A	CCDS9366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.052201|4.052201	0.75960|0.75960	.|.	.|.	ENSG00000120686|ENSG00000120686	ENST00000437952|ENST00000239878	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|.	.|.	.|.	.|.	T|T	0.59142|0.59142	0.2172|0.2172	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P;B	.|0.39551	.|0.678;0.073	.|B;B	.|0.43950	.|0.437;0.181	T|T	0.62158|0.62158	-0.6913|-0.6913	4|7	.|0.56958	.|D	.|0.05	.|.	13.9271|13.9271	0.63968|0.63968	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4;4	.|Q5VXS2;P61960	.|.;UFM1_HUMAN	D|I	4|4	.|.	.|ENSP00000239878:V4I	G|V	+|+	2|1	0|0	UFM1|UFM1	37822143|37822143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	6.176000|6.176000	0.71955|0.71955	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	GGT|GTT		0.577	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	NM_016617		38	32	0	0	0	1	0	38	32				
MARK1	4139	broad.mit.edu	37	1	220791784	220791784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:220791784C>T	ENST00000366917.4	+	8	951	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	MARK1_ENST00000402574.1_Nonsense_Mutation_p.Q94*|MARK1_ENST00000366918.4_Nonsense_Mutation_p.Q207*					MAP/microtubule affinity-regulating kinase 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)		CGAGCTTTTCCAAGGAAAGAA	0.433																																						ENST00000402574.1																			0				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						c.(280-282)Caa>Taa		MAP/microtubule affinity-regulating kinase 1							78.0	79.0	79.0					1																	220791784		2203	4300	6503	SO:0001587	stop_gained	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791784C>T	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.685C>T	1.37:g.220791784C>T	ENSP00000355884:p.Gln229*					MARK1_ENST00000366918.4_Nonsense_Mutation_p.Q207*|MARK1_ENST00000366917.4_Nonsense_Mutation_p.Q229*	p.Q94*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	8	1282	+			229			Protein kinase.			Nonsense_Mutation	SNP	ENST00000366917.4	37	c.280C>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	40	8.520830	0.98848	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	.	.	.	X	94;207;229	.	ENSP00000355884:Q229X	Q	+	1	0	MARK1	218858407	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	7.770000	0.85390	2.709000	0.92574	0.655000	0.94253	CAA		0.433	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			5	29	0	0	0	1	0	5	29				
ADAMTS15	170689	broad.mit.edu	37	11	130331433	130331433	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:130331433G>A	ENST00000299164.2	+	2	1007	c.1007G>A	c.(1006-1008)gGt>gAt	p.G336D		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	336	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCTGATGTGGGTACCATGTGT	0.587																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1006-1008)gGt>gAt		ADAM metallopeptidase with thrombospondin type 1 motif, 15							119.0	93.0	102.0					11																	130331433		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130331433G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1007G>A	11.37:g.130331433G>A	ENSP00000299164:p.Gly336Asp						p.G336D	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	2	1007	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	336			Peptidase M12B.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1007G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394547	0.96009	.	.	ENSG00000166106	ENST00000299164	D	0.89415	-2.51	5.92	5.92	0.95590	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.95733	0.8612	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95691	0.8740	9	0.87932	D	0	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	336	Q8TE58	ATS15_HUMAN	D	336	ENSP00000299164:G336D	ENSP00000299164:G336D	G	+	2	0	ADAMTS15	129836643	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.804000	0.96469	0.655000	0.94253	GGT		0.587	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		33	57	0	0	0	1	0	33	57				
DHX29	54505	broad.mit.edu	37	5	54557292	54557292	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:54557292G>A	ENST00000251636.5	-	25	4012	c.3864C>T	c.(3862-3864)acC>acT	p.T1288T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1288						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GGGTTATTAGGGTAGTTTCTC	0.363																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(3862-3864)acC>acT		DEAH (Asp-Glu-Ala-His) box polypeptide 29							95.0	99.0	98.0					5																	54557292		2203	4300	6503	SO:0001819	synonymous_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54557292G>A	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3864C>T	5.37:g.54557292G>A						RP11-506H20.1_ENST00000506435.1_RNA	p.T1288T	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			25	4012	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1288					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	c.3864C>T	CCDS34158.1																																																																																				0.363	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		4	78	0	0	0	1	0	4	78				
PPP1R18	170954	broad.mit.edu	37	6	30653109	30653109	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30653109G>A	ENST00000274853.3	-	1	2563	c.687C>T	c.(685-687)gcC>gcT	p.A229A	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Silent_p.A229A	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	229						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ACTTCTGGTAGGCAGATTCCC	0.542																																						ENST00000274853.3																			0											c.(685-687)gcC>gcT		protein phosphatase 1, regulatory subunit 18							213.0	230.0	225.0					6																	30653109		1191	2524	3715	SO:0001819	synonymous_variant	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653109G>A	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.687C>T	6.37:g.30653109G>A						PPP1R18_ENST00000399199.3_Silent_p.A229A|PPP1R18_ENST00000488324.1_Intron	p.A229A	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2563	-			229					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	ENST00000274853.3	37	c.687C>T	CCDS43444.1																																																																																				0.542	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		74	134	0	0	0	1	0	74	134				
SELP	6403	broad.mit.edu	37	1	169581475	169581475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:169581475G>A	ENST00000263686.6	-	6	978	c.941C>T	c.(940-942)gCc>gTc	p.A314V	SELP_ENST00000367791.2_Missense_Mutation_p.A314V|SELP_ENST00000367792.2_Missense_Mutation_p.A314V|SELP_ENST00000367793.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.A314V|SELP_ENST00000367788.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.A314V|SELP_ENST00000367786.2_Missense_Mutation_p.A314V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	314	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.A314D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TGGGGCTGGGGCTGTCCATAC	0.493																																						ENST00000263686.6																			1	Substitution - Missense(1)	p.A314D(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(940-942)gCc>gTc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						132.0	105.0	114.0					1																	169581475		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169581475G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.941C>T	1.37:g.169581475G>A	ENSP00000263686:p.Ala314Val					SELP_ENST00000367794.2_Missense_Mutation_p.A314V|SELP_ENST00000458599.2_Missense_Mutation_p.A314V|SELP_ENST00000367792.2_Missense_Mutation_p.A314V|SELP_ENST00000367788.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.A314V|SELP_ENST00000367791.2_Missense_Mutation_p.A314V|SELP_ENST00000367793.2_Intron	p.A314V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			6	978	-	all_hematologic(923;0.208)		314			Sushi 2.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.941C>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528021	0.44969	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.97	4.04	0.47022	Complement control module (2);Sushi/SCR/CCP (3);	0.165285	0.28677	N	0.014519	T	0.63426	0.2510	M	0.84156	2.68	0.09310	N	1	D;P;D	0.59767	0.986;0.955;0.971	P;P;P	0.59546	0.859;0.765;0.781	T	0.59783	-0.7389	10	0.56958	D	0.05	.	7.0348	0.24987	0.0968:0.2929:0.6103:0.0	.	314;314;314	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	V	314;314;313;314;314;314;314;314;314;314;299	ENSP00000263686:A314V;ENSP00000356768:A314V;ENSP00000356766:A314V;ENSP00000356765:A314V;ENSP00000356760:A314V	ENSP00000263686:A314V	A	-	2	0	SELP	167848099	0.000000	0.05858	0.006000	0.13384	0.621000	0.37620	-0.083000	0.11286	1.057000	0.40506	0.650000	0.86243	GCC		0.493	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		14	50	0	0	0	1	0	14	50				
HNRNPA2B1	3181	broad.mit.edu	37	7	26236577	26236577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:26236577C>T	ENST00000354667.4	-	5	529	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E109K	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	121	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCAGTATCTTCTTTAATTCCG	0.378			T	ETV1	prostate																																	ENST00000354667.4				Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate	HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(361-363)Gaa>Aaa		heterogeneous nuclear ribonucleoprotein A2/B1							156.0	154.0	155.0					7																	26236577		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236577C>T	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.361G>A	7.37:g.26236577C>T	ENSP00000346694:p.Glu121Lys					HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E109K	p.E121K	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN			5	529	-			121			RRM 2.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.361G>A	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821230	0.96989	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	D;D	0.93366	-3.21;-3.21	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.93674	0.7979	N	0.16066	0.365	0.58432	D	0.99999	D;D	0.71674	0.998;0.989	P;D	0.71184	0.905;0.972	D	0.94455	0.7671	10	0.59425	D	0.04	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	109;121	P22626-2;P22626	.;ROA2_HUMAN	K	121;109;109	ENSP00000346694:E121K;ENSP00000349101:E109K	ENSP00000346694:E121K	E	-	1	0	HNRNPA2B1	26203102	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.663000	0.83820	2.812000	0.96745	0.557000	0.71058	GAA		0.378	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		20	200	0	0	0	1	0	20	200				
SCAP	22937	broad.mit.edu	37	3	47456399	47456399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:47456399G>A	ENST00000265565.5	-	20	3636	c.3224C>T	c.(3223-3225)cCc>cTc	p.P1075L	SCAP_ENST00000441517.2_Missense_Mutation_p.P819L|SCAP_ENST00000545718.1_Missense_Mutation_p.P682L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1075	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTGTGCACAGGGCACTGTGTG	0.602																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3223-3225)cCc>cTc		SREBF chaperone							55.0	61.0	59.0					3																	47456399		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47456399G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3224C>T	3.37:g.47456399G>A	ENSP00000265565:p.Pro1075Leu					SCAP_ENST00000441517.2_Missense_Mutation_p.P819L|SCAP_ENST00000545718.1_Missense_Mutation_p.P682L	p.P1075L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	20	3636	-			1075			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3224C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300146	0.60195	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.49139	0.79;0.79;0.79	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.247806	0.42821	D	0.000651	T	0.37433	0.1003	N	0.22421	0.69	0.51767	D	0.999936	B;B	0.34015	0.435;0.384	B;B	0.34590	0.124;0.186	T	0.10359	-1.0633	10	0.21014	T	0.42	-32.7862	18.9586	0.92670	0.0:0.0:1.0:0.0	.	819;1075	F8W921;Q12770	.;SCAP_HUMAN	L	567;701;1075;819;682	ENSP00000265565:P1075L;ENSP00000416847:P819L;ENSP00000438956:P682L	ENSP00000265565:P1075L	P	-	2	0	SCAP	47431403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.532000	0.45659	2.797000	0.96272	0.655000	0.94253	CCC		0.602	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		29	44	0	0	0	1	0	29	44				
EPG5	57724	broad.mit.edu	37	18	43535171	43535171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:43535171G>A	ENST00000282041.5	-	2	231	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	66					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGGAGCTGGGAATCAGTTAC	0.463																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(196-198)tCc>tTc		ectopic P-granules autophagy protein 5 homolog (C. elegans)							105.0	98.0	100.0					18																	43535171		1914	4138	6052	SO:0001583	missense	57724				autophagy			g.chr18:43535171G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.197C>T	18.37:g.43535171G>A	ENSP00000282041:p.Ser66Phe						p.S66F	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			2	231	-			66					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.197C>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	6.328	0.428644	0.11987	.	.	ENSG00000152223	ENST00000282041	T	0.13089	2.62	5.9	3.79	0.43588	.	1.582760	0.02936	N	0.139812	T	0.10594	0.0259	N	0.14661	0.345	0.09310	N	1	B;B	0.32526	0.374;0.374	B;B	0.33042	0.157;0.157	T	0.21280	-1.0250	10	0.42905	T	0.14	-10.4531	6.7296	0.23375	0.1238:0.1861:0.6901:0.0	.	66;66	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	F	66	ENSP00000282041:S66F	ENSP00000282041:S66F	S	-	2	0	EPG5	41789169	0.738000	0.28186	0.014000	0.15608	0.011000	0.07611	2.399000	0.44495	1.477000	0.48234	0.563000	0.77884	TCC		0.463	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		6	49	0	0	0	1	0	6	49				
CIC	23152	broad.mit.edu	37	19	42796946	42796946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42796946C>T	ENST00000575354.2	+	14	3444	c.3404C>T	c.(3403-3405)cCc>cTc	p.P1135L	CIC_ENST00000572681.2_Missense_Mutation_p.P2043L|CIC_ENST00000160740.3_Missense_Mutation_p.P1134L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1135	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCATTCTGCCCAAGGGCCCG	0.672			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6127-6129)cCc>cTc		capicua transcriptional repressor							37.0	48.0	44.0					19																	42796946		2203	4298	6501	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796946C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3404C>T	19.37:g.42796946C>T	ENSP00000458663:p.Pro1135Leu					CIC_ENST00000160740.3_Missense_Mutation_p.P1134L|CIC_ENST00000575354.2_Missense_Mutation_p.P1135L	p.P2043L			Q96RK0	CIC_HUMAN			15	6196	+		Prostate(69;0.00682)	1135					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.6128C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596813	0.46318	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.72	3.68	0.42216	.	.	.	.	.	T	0.38558	0.1045	N	0.14661	0.345	0.46798	D	0.999203	B	0.09022	0.002	B	0.06405	0.002	T	0.31308	-0.9948	8	0.87932	D	0	-14.5517	8.8322	0.35091	0.0:0.8976:0.0:0.1024	.	1135	Q96RK0	CIC_HUMAN	L	1135	.	ENSP00000160740:P1135L	P	+	2	0	CIC	47488786	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.406000	0.52637	1.370000	0.46153	0.484000	0.47621	CCC		0.672	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	50	0	0	0	1	0	18	50				
YPEL1	29799	broad.mit.edu	37	22	22049279	22049279	+	IGR	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22049279G>A	ENST00000339468.3	-	0	4329				PPIL2_ENST00000406385.1_Silent_p.K462K|PPIL2_ENST00000492445.2_Silent_p.K462K|PPIL2_ENST00000412327.1_Silent_p.K462K|PPIL2_ENST00000398831.3_Silent_p.K462K|PPIL2_ENST00000335025.8_Silent_p.K462K|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000456792.2_Intron	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CCAAAGTGAAGAGCAGCCAGC	0.672																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(1384-1386)aaG>aaA		peptidylprolyl isomerase (cyclophilin)-like 2							55.0	64.0	61.0					22																	22049279		2203	4300	6503	SO:0001628	intergenic_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22049279G>A	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830		22.37:g.22049279G>A						PPIL2_ENST00000412327.1_Silent_p.K462K|PPIL2_ENST00000492445.2_Silent_p.K462K|PPIL2_ENST00000398831.3_Silent_p.K462K|PPIL2_ENST00000335025.7_Silent_p.K462K|PPIL2_ENST00000456792.2_Intron	p.K462K			Q13356	PPIL2_HUMAN			19	1446	+	Colorectal(54;0.105)		462					Q65ZA1|Q6GLI6	Silent	SNP	ENST00000339468.3	37	c.1386G>A	CCDS13794.1																																																																																				0.672	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		6	114	0	0	0	1	0	6	114				
DNAH17	8632	broad.mit.edu	37	17	76450706	76450706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:76450706C>T	ENST00000585328.1	-	64	10361	c.10237G>A	c.(10237-10239)Ggc>Agc	p.G3413S	DNAH17_ENST00000389840.5_Missense_Mutation_p.G3404S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3404	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGGGGAGGCCCTGGTTGTTC	0.642																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(10210-10212)Ggc>Agc		dynein, axonemal, heavy chain 17							105.0	84.0	91.0					17																	76450706		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76450706C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10237G>A	17.37:g.76450706C>T	ENSP00000465516:p.Gly3413Ser					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.G3413S	p.G3404S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		64	10334	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.10210G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.887205	0.97068	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.37058	1.22	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000005	T	0.64692	0.2621	M	0.87381	2.88	0.58432	D	0.999995	D	0.64830	0.994	P	0.62382	0.901	T	0.72110	-0.4389	10	0.72032	D	0.01	.	18.7675	0.91879	0.0:1.0:0.0:0.0	.	3413	E7EUM8	.	S	3413;3404	ENSP00000374490:G3404S	ENSP00000300671:G3413S	G	-	1	0	DNAH17	73962301	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.611000	0.82962	2.405000	0.81733	0.655000	0.94253	GGC		0.642	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		6	35	0	0	0	1	0	6	35				
CSPG4	1464	broad.mit.edu	37	15	75981576	75981576	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75981576C>T	ENST00000308508.5	-	3	1922	c.1830G>A	c.(1828-1830)ggG>ggA	p.G610G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	610	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCGCCGGCTCCCCAGGCTGGT	0.667																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1828-1830)ggG>ggA		chondroitin sulfate proteoglycan 4							14.0	17.0	16.0					15																	75981576		2177	4263	6440	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981576C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1830G>A	15.37:g.75981576C>T							p.G610G	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1922	-			610			Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.1830G>A	CCDS10284.1																																																																																				0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		10	24	0	0	0	1	0	10	24				
OSBPL6	114880	broad.mit.edu	37	2	179197659	179197659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179197659G>A	ENST00000190611.4	+	8	924	c.548G>A	c.(547-549)cGt>cAt	p.R183H	OSBPL6_ENST00000315022.2_Missense_Mutation_p.R162H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R183H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R183H|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R183H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R183H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R183H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	183					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CGGTTGTATCGTCAGAATGAA	0.408																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(547-549)cGt>cAt		oxysterol binding protein-like 6							158.0	147.0	150.0					2																	179197659		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179197659G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.548G>A	2.37:g.179197659G>A	ENSP00000190611:p.Arg183His					OSBPL6_ENST00000409631.1_Missense_Mutation_p.R183H|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R183H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R183H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R183H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R183H|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R162H	p.R183H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		8	924	+			183					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.548G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435576	0.96150	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.14893	2.5;2.49;2.47;2.48;2.49;2.49;2.52	5.57	5.57	0.84162	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	M	0.69358	2.11	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	0.87578	0.993;0.998;0.991;0.998;0.994;0.996	T	0.07214	-1.0784	10	0.45353	T	0.12	-14.256	19.9215	0.97087	0.0:0.0:1.0:0.0	.	183;162;183;183;183;183	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	H	183;183;183;183;183;183;162	ENSP00000376293:R183H;ENSP00000352713:R183H;ENSP00000349591:R183H;ENSP00000387248:R183H;ENSP00000190611:R183H;ENSP00000386885:R183H;ENSP00000318723:R162H	ENSP00000190611:R183H	R	+	2	0	OSBPL6	178905905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.785000	0.95823	0.655000	0.94253	CGT		0.408	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		50	89	0	0	0	1	0	50	89				
SIGLEC11	114132	broad.mit.edu	37	19	50461923	50461923	+	Missense_Mutation	SNP	A	A	G	rs545039683	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:50461923A>G	ENST00000447370.2	-	7	1430	c.1340T>C	c.(1339-1341)gTc>gCc	p.V447A	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V447A|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	447	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCTGAGAGAGACGTGCTGGGA	0.652													A|||	2	0.000399361	0.0	0.0	5008	,	,		18100	0.0		0.0	False		,,,				2504	0.002					ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1339-1341)gTc>gCc		sialic acid binding Ig-like lectin 11							81.0	78.0	79.0					19																	50461923		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461923A>G	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1340T>C	19.37:g.50461923A>G	ENSP00000412361:p.Val447Ala					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V447A	p.V447A	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1430	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	447			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1340T>C	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.255|1.255	-0.617509|-0.617509	0.03663|0.03663	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.08984	.|3.03	3.1|3.1	0.76|0.76	0.18442|0.18442	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|2.163810	.|0.01676	.|N	.|0.025884	T|T	0.06371|0.06371	0.0164|0.0164	L|L	0.31371|0.31371	0.925|0.925	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25486	.|0.036;0.127	.|B;B	.|0.22753	.|0.02;0.041	T|T	0.32534|0.32534	-0.9903|-0.9903	5|10	.|0.12766	.|T	.|0.61	.|.	3.3779|3.3779	0.07244|0.07244	0.6198:0.2379:0.1423:0.0|0.6198:0.2379:0.1423:0.0	.|.	.|447;447	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	P|A	437|447	.|ENSP00000412361:V447A	.|ENSP00000412361:V447A	S|V	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153735|55153735	0.028000|0.028000	0.19301|0.19301	0.006000|0.006000	0.13384|0.13384	0.052000|0.052000	0.14988|0.14988	-0.181000|-0.181000	0.09740|0.09740	-0.032000|-0.032000	0.13758|0.13758	0.454000|0.454000	0.30748|0.30748	TCT|GTC		0.652	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		5	117	0	0	0	1	0	5	117				
LRP1	4035	broad.mit.edu	37	12	57554706	57554706	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57554706C>T	ENST00000243077.3	+	13	2476	c.2010C>T	c.(2008-2010)gaC>gaT	p.D670D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	670					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGAGGAGGACCCCAAGGACA	0.622																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2008-2010)gaC>gaT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						93.0	71.0	78.0					12																	57554706		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57554706C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2010C>T	12.37:g.57554706C>T							p.D670D	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	13	2476	+			670					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.2010C>T	CCDS8932.1																																																																																				0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	77	0	0	0	1	0	4	77				
PAK2	5062	broad.mit.edu	37	3	196547439	196547439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:196547439G>A	ENST00000327134.3	+	13	1672		c.e13+1			NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TCCCTTGAGGGTAAGATGAGT	0.418																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.e13+1		p21 protein (Cdc42/Rac)-activated kinase 2							79.0	71.0	74.0					3																	196547439		2203	4300	6503	SO:0001630	splice_region_variant	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196547439G>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.1350+1G>A	3.37:g.196547439G>A								NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	13	1672	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)							Q13154|Q6ISC3	Splice_Site	SNP	ENST00000327134.3	37		CCDS3321.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247220	0.80024	.	.	ENSG00000180370	ENST00000327134;ENST00000426668	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7284	0.88370	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAK2	198031836	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.208000	0.95075	2.482000	0.83794	0.655000	0.94253	.		0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577	Intron	5	63	0	0	0	1	0	5	63				
NRG2	9542	broad.mit.edu	37	5	139232101	139232101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139232101C>T	ENST00000361474.1	-	8	1684	c.1460G>A	c.(1459-1461)aGa>aAa	p.R487K	NRG2_ENST00000289422.7_Missense_Mutation_p.R495K|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000545385.1_Missense_Mutation_p.R489K|NRG2_ENST00000340391.3_Missense_Mutation_p.R284K|NRG2_ENST00000289409.4_Missense_Mutation_p.R481K|NRG2_ENST00000358522.3_Missense_Mutation_p.R489K|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000541337.1_Missense_Mutation_p.R421K	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	487					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTTTCTCTCCTGATGAC	0.542																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1261-1263)aGa>aAa		neuregulin 2							222.0	188.0	199.0					5																	139232101		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139232101C>T		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1460G>A	5.37:g.139232101C>T	ENSP00000354910:p.Arg487Lys					NRG2_ENST00000545385.1_Missense_Mutation_p.R489K|NRG2_ENST00000340391.3_Missense_Mutation_p.R284K|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289409.4_Missense_Mutation_p.R481K|NRG2_ENST00000358522.3_Missense_Mutation_p.R489K|NRG2_ENST00000361474.1_Missense_Mutation_p.R487K|NRG2_ENST00000289422.7_Missense_Mutation_p.R495K	p.R421K	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1491	-			487						Missense_Mutation	SNP	ENST00000361474.1	37	c.1262G>A	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098105	0.76870	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.25	5.25	0.73442	Neuregulin 1-related, C-terminal (1);	0.144724	0.46758	D	0.000263	T	0.63581	0.2523	L	0.41632	1.29	0.80722	D	1	D;D;P;D	0.54772	0.961;0.968;0.93;0.961	P;P;P;P	0.57283	0.721;0.817;0.721;0.721	T	0.56456	-0.7976	10	0.17369	T	0.5	-32.3149	18.8497	0.92222	0.0:1.0:0.0:0.0	.	481;487;489;495	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	K	421;495;487;495;489;284;481;489	ENSP00000444235:R421K;ENSP00000289422:R495K;ENSP00000354910:R487K;ENSP00000438753:R489K;ENSP00000342660:R284K;ENSP00000289409:R481K;ENSP00000351323:R489K	ENSP00000289409:R481K	R	-	2	0	NRG2	139212285	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.806000	0.55583	2.458000	0.83093	0.467000	0.42956	AGA		0.542	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		28	59	0	0	0	1	0	28	59				
DNAJC25	548645	broad.mit.edu	37	9	114411998	114411998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:114411998C>T	ENST00000313525.3	+	3	811	c.755C>T	c.(754-756)gCt>gTt	p.A252V	DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	252						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						ATTATCTTAGCTCCTTTTCAC	0.328																																						ENST00000313525.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						c.(754-756)gCt>gTt		DnaJ (Hsp40) homolog, subfamily C , member 25							50.0	52.0	51.0					9																	114411998		1816	4073	5889	SO:0001583	missense	548645				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr9:114411998C>T		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"""Heat shock proteins / DNAJ (HSP40)"""	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.755C>T	9.37:g.114411998C>T	ENSP00000320650:p.Ala252Val					DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron	p.A252V	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN			3	811	+			252					Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	c.755C>T	CCDS43862.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791617	0.50102	.	.	ENSG00000059769	ENST00000313525	T	0.41065	1.01	6.17	6.17	0.99709	.	0.170682	0.53938	D	0.000054	T	0.36799	0.0980	L	0.41236	1.265	0.80722	D	1	P	0.35077	0.483	B	0.30943	0.122	T	0.06215	-1.0839	10	0.31617	T	0.26	-1.7459	19.0599	0.93085	0.0:1.0:0.0:0.0	.	252	Q9H1X3	DJC25_HUMAN	V	252	ENSP00000320650:A252V	ENSP00000320650:A252V	A	+	2	0	DNAJC25	113451819	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.766000	0.55280	2.941000	0.99782	0.655000	0.94253	GCT		0.328	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		18	31	0	0	0	1	0	18	31				
EVI5	7813	broad.mit.edu	37	1	93091429	93091429	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:93091429C>T	ENST00000370331.1	-	13	1551	c.1542G>A	c.(1540-1542)gtG>gtA	p.V514V	EVI5_ENST00000543509.1_Silent_p.V525V|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Silent_p.V514V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	514	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CTCTAAGTTTCACAGCAATGA	0.343																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(1540-1542)gtG>gtA		ecotropic viral integration site 5							124.0	119.0	121.0					1																	93091429		2202	4300	6502	SO:0001819	synonymous_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93091429C>T	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1542G>A	1.37:g.93091429C>T						EVI5_ENST00000540033.1_Silent_p.V514V|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Silent_p.V525V	p.V514V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	13	1551	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	514			Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	c.1542G>A	CCDS30774.1																																																																																				0.343	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		4	79	0	0	0	1	0	4	79				
RASGRF1	5923	broad.mit.edu	37	15	79296337	79296337	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:79296337C>T	ENST00000419573.3	-	16	2578	c.2304G>A	c.(2302-2304)aaG>aaA	p.K768K	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.K752K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	768					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTCCAGGGCCTTGCCGCCAG	0.627																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2302-2304)aaG>aaA		Ras protein-specific guanine nucleotide-releasing factor 1							64.0	57.0	59.0					15																	79296337		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296337C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2304G>A	15.37:g.79296337C>T						RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.K752K	p.K768K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2578	-			769					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2304G>A	CCDS10309.1																																																																																				0.627	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		6	45	0	0	0	1	0	6	45				
COL7A1	1294	broad.mit.edu	37	3	48621183	48621183	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48621183G>A	ENST00000328333.8	-	39	4416	c.4309C>T	c.(4309-4311)Ccc>Tcc	p.P1437S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1437S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1437	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCCAACGGGGCCTTGGGGT	0.582																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(4309-4311)Ccc>Tcc		collagen, type VII, alpha 1							47.0	55.0	52.0					3																	48621183		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621183G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4309C>T	3.37:g.48621183G>A	ENSP00000332371:p.Pro1437Ser					COL7A1_ENST00000454817.1_Missense_Mutation_p.P1437S	p.P1437S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	39	4416	-			1437			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4309C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067816	0.36470	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93076	-3.16;-3.16	5.37	4.44	0.53790	.	0.151679	0.30227	N	0.010120	D	0.91563	0.7335	M	0.73598	2.24	0.36537	D	0.871076	B	0.15930	0.015	B	0.15484	0.013	D	0.89276	0.3608	10	0.30854	T	0.27	.	10.6967	0.45903	0.0949:0.0:0.9051:0.0	.	1437	Q02388	CO7A1_HUMAN	S	1437	ENSP00000332371:P1437S;ENSP00000412569:P1437S	ENSP00000332371:P1437S	P	-	1	0	COL7A1	48596187	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	4.172000	0.58243	1.159000	0.42565	0.655000	0.94253	CCC		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	50	0	0	0	1	0	4	50				
TMEM132A	54972	broad.mit.edu	37	11	60694836	60694836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:60694836G>A	ENST00000453848.2	+	2	419	c.261G>A	c.(259-261)tgG>tgA	p.W87*	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Nonsense_Mutation_p.W87*			Q24JP5	T132A_HUMAN	transmembrane protein 132A	87						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TACAGCCCTGGCCCAGGGCCC	0.637																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(259-261)tgG>tgA		transmembrane protein 132A							40.0	46.0	44.0					11																	60694836		2203	4299	6502	SO:0001587	stop_gained	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60694836G>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.261G>A	11.37:g.60694836G>A	ENSP00000405823:p.Trp87*					TMEM132A_ENST00000453848.2_Nonsense_Mutation_p.W87*	p.W87*	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			2	414	+			87					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Nonsense_Mutation	SNP	ENST00000453848.2	37	c.261G>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426762	0.96131	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	.	.	.	4.69	2.68	0.31781	.	0.718085	0.12985	N	0.422942	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.8648	0.41136	0.0:0.1472:0.7018:0.151	.	.	.	.	X	87	.	ENSP00000005286:W87X	W	+	3	0	TMEM132A	60451412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.401000	0.34589	2.328000	0.79073	0.462000	0.41574	TGG		0.637	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		17	53	0	0	0	1	0	17	53				
JUND	3727	broad.mit.edu	37	19	18391409	18391409	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18391409G>A	ENST00000252818.3	-	1	1023	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	296	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						TTCTCTTCCAGGCGCGAGATG	0.647																																						ENST00000252818.3																			0				lung(2)|prostate(1)	3						c.(886-888)Ctg>Ttg		jun D proto-oncogene							22.0	23.0	23.0					19																	18391409		2195	4291	6486	SO:0001819	synonymous_variant	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391409G>A		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.886C>T	19.37:g.18391409G>A							p.L296L	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	1023	-			296			Leucine-zipper.		Q53EK9	Silent	SNP	ENST00000252818.3	37	c.886C>T	CCDS32959.1																																																																																				0.647	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		4	35	0	0	0	1	0	4	35				
COL17A1	1308	broad.mit.edu	37	10	105795281	105795281	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105795281G>A	ENST00000353479.5	-	49	3749	c.3459C>T	c.(3457-3459)ccC>ccT	p.P1153P	COL17A1_ENST00000369733.3_Silent_p.P1108P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1153	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)				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)		GCAAGCCAGGGGGCCCCGGGG	0.607																																						ENST00000353479.5																			0				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						c.(3457-3459)ccC>ccT		collagen, type XVII, alpha 1							21.0	25.0	24.0					10																	105795281		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105795281G>A	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.3459C>T	10.37:g.105795281G>A						COL17A1_ENST00000369733.3_Silent_p.P1108P	p.P1153P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	49	3749	-		Colorectal(252;0.103)|Breast(234;0.122)	1153			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.3459C>T	CCDS7554.1																																																																																				0.607	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		7	21	0	0	0	1	0	7	21				
CTRC	11330	broad.mit.edu	37	1	15772118	15772118	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:15772118C>T	ENST00000375949.4	+	7	692	c.666C>T	c.(664-666)tgC>tgT	p.C222C	CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	222	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTGAACTGCCAGTTGGAGA	0.647																																						ENST00000375949.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13						c.(664-666)tgC>tgT		chymotrypsin C (caldecrin)							69.0	69.0	69.0					1																	15772118		2203	4300	6503	SO:0001819	synonymous_variant	11330				proteolysis		serine-type endopeptidase activity	g.chr1:15772118C>T	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.666C>T	1.37:g.15772118C>T						CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR	p.C222C	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	7	692	+		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)	222			Peptidase S1.		A8K082|O00765|Q9NUH5	Silent	SNP	ENST00000375949.4	37	c.666C>T	CCDS156.1																																																																																				0.647	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		35	53	0	0	0	1	0	35	53				
INO80	54617	broad.mit.edu	37	15	41313120	41313120	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41313120G>A	ENST00000361937.3	-	26	3676	c.3252C>T	c.(3250-3252)ggC>ggT	p.G1084G	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Silent_p.G1084G			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1084	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGAAAGACCAGCCATTCTGAG	0.517																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3250-3252)ggC>ggT		INO80 complex subunit							45.0	46.0	46.0					15																	41313120		2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41313120G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3252C>T	15.37:g.41313120G>A						RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Silent_p.G1084G	p.G1084G			Q9ULG1	INO80_HUMAN			26	3676	-			1084			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.3252C>T	CCDS10071.1																																																																																				0.517	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		14	25	0	0	0	1	0	14	25				
MIS12	79003	broad.mit.edu	37	17	5392651	5392651	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5392651A>G	ENST00000381165.3	+	3	1022	c.469A>G	c.(469-471)Act>Gct	p.T157A	MIS12_ENST00000573759.1_Missense_Mutation_p.T157A|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						ACAGACGTTGACTTTCTTTGA	0.398																																						ENST00000381165.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						c.(469-471)Act>Gct		MIS12 kinetochore complex component							188.0	183.0	185.0					17																	5392651		2203	4300	6503	SO:0001583	missense	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392651A>G	AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.469A>G	17.37:g.5392651A>G	ENSP00000370557:p.Thr157Ala					MIS12_ENST00000573759.1_Missense_Mutation_p.T157A	p.T157A	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN			3	1022	+			157						Missense_Mutation	SNP	ENST00000381165.3	37	c.469A>G	CCDS11074.1	.	.	.	.	.	.	.	.	.	.	A	9.203	1.028985	0.19512	.	.	ENSG00000167842	ENST00000381165	T	0.42131	0.98	5.81	-2.47	0.06442	.	1.322250	0.04469	N	0.375697	T	0.26376	0.0644	L	0.43152	1.355	0.21290	N	0.999738	B	0.02656	0.0	B	0.01281	0.0	T	0.10314	-1.0635	10	0.08381	T	0.77	-13.3284	0.7542	0.00996	0.3196:0.1625:0.3079:0.2101	.	157	Q9H081	MIS12_HUMAN	A	157	ENSP00000370557:T157A	ENSP00000370557:T157A	T	+	1	0	MIS12	5333375	0.998000	0.40836	0.509000	0.27700	0.940000	0.58332	0.821000	0.27338	-0.329000	0.08527	-0.326000	0.08463	ACT		0.398	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		48	123	0	0	0	1	0	48	123				
PCNXL3	399909	broad.mit.edu	37	11	65380560	65380560	+	5'Flank	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65380560G>A	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.A223V|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CATCCCACGGGCAATCTGCAC	0.647																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(667-669)gCc>gTc		mitogen-activated protein kinase kinase kinase 11							74.0	68.0	70.0					11																	65380560		2201	4297	6498	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65380560G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380560G>A	Exception_encountered						p.A223V	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			1	1153	-			223			Protein kinase.		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.668C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992106	0.93167	.	.	ENSG00000173327	ENST00000309100	D	0.89939	-2.59	4.06	4.06	0.47325	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	0.000004	D	0.92886	0.7737	M	0.70903	2.155	0.80722	D	1	D	0.54772	0.968	D	0.65233	0.933	D	0.93514	0.6855	10	0.66056	D	0.02	.	13.7994	0.63190	0.0:0.0:1.0:0.0	.	223	Q16584	M3K11_HUMAN	V	223	ENSP00000309597:A223V	ENSP00000309597:A223V	A	-	2	0	MAP3K11	65137136	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.561000	0.98142	2.116000	0.64780	0.655000	0.94253	GCC		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		21	33	0	0	0	1	0	21	33				
IER3	8870	broad.mit.edu	37	6	30709930	30709930	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30709930C>T	ENST00000259874.5	-	0	1244				FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Missense_Mutation_p.V13I|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000376389.3_Missense_Mutation_p.V13I	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						TTACCGGAGACCACCATGGCC	0.592																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(37-39)Gtc>Atc		flotillin 1							184.0	174.0	177.0					6																	30709930		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30709930C>T	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30709930C>T						FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Missense_Mutation_p.V13I	p.V13I	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			2	257	-			13					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.37G>A	CCDS4689.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.505246|6.505246	0.97620|0.97620	.|.	.|.	ENSG00000137312|ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000438162;ENST00000445853;ENST00000416018;ENST00000454845|ENST00000413165;ENST00000418160	T;T;T;T;T;T|.	0.48522|.	0.81;0.81;0.81;0.81;0.81;0.81|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.49047|.	0.1534|.	L|L	0.28608|0.28608	0.87|0.87	0.58432|0.58432	D|D	0.999997|0.999997	B;P|.	0.37083|.	0.189;0.581|.	B;P|.	0.45946|.	0.085;0.498|.	T|.	0.56347|.	-0.7994|.	10|.	0.27082|0.66056	T|D	0.32|0.02	0.2724|0.2724	16.0104|16.0104	0.80399|0.80399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	13;13|.	B4DVY7;O75955|.	.;FLOT1_HUMAN|.	I|X	13|5;61	ENSP00000365569:V13I;ENSP00000394375:V13I;ENSP00000400615:V13I;ENSP00000398834:V13I;ENSP00000412058:V13I;ENSP00000391341:V13I|.	ENSP00000365569:V13I|ENSP00000395333:W5X	V|W	-|-	1|3	0|0	FLOT1|FLOT1	30817909|30817909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.493000|6.493000	0.73658|0.73658	2.435000|2.435000	0.82474|0.82474	0.462000|0.462000	0.41574|0.41574	GTC|TGG		0.592	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			13	127	0	0	0	1	0	13	127				
AOC3	8639	broad.mit.edu	37	17	41008316	41008316	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:41008316G>A	ENST00000308423.2	+	4	2201	c.2041G>A	c.(2041-2043)Ggt>Agt	p.G681S	AOC3_ENST00000591562.1_Missense_Mutation_p.G138S	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	681					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGTGACAGCTGGTTTTCTGCA	0.532																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(2041-2043)Ggt>Agt		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						150.0	145.0	147.0					17																	41008316		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41008316G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2041G>A	17.37:g.41008316G>A	ENSP00000312326:p.Gly681Ser					AOC3_ENST00000591562.1_Missense_Mutation_p.G138S	p.G681S	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	2201	+		Breast(137;0.000143)	681					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.2041G>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185478	0.94885	.	.	ENSG00000131471	ENST00000308423	T	0.28454	1.61	4.91	4.91	0.64330	Copper amine oxidase, C-terminal (3);	0.105325	0.64402	D	0.000003	T	0.45895	0.1365	L	0.55743	1.74	0.80722	D	1	P	0.52692	0.955	P	0.54924	0.764	T	0.38950	-0.9637	10	0.52906	T	0.07	.	18.2746	0.90078	0.0:0.0:1.0:0.0	.	681	Q16853	AOC3_HUMAN	S	681	ENSP00000312326:G681S	ENSP00000312326:G681S	G	+	1	0	AOC3	38261842	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.389000	0.97243	2.549000	0.85964	0.561000	0.74099	GGT		0.532	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		24	147	0	0	0	1	0	24	147				
AHNAK2	113146	broad.mit.edu	37	14	105414906	105414906	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:105414906C>T	ENST00000333244.5	-	7	7001	c.6882G>A	c.(6880-6882)aaG>aaA	p.K2294K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2294						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCATCCAGCTTGGCTCCTG	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(6880-6882)aaG>aaA		AHNAK nucleoprotein 2							159.0	176.0	170.0					14																	105414906		2006	4182	6188	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414906C>T	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.6882G>A	14.37:g.105414906C>T						AHNAK2_ENST00000557457.1_Intron	p.K2294K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7001	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2294					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.6882G>A	CCDS45177.1																																																																																				0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	137	0	0	0	1	0	8	137				
CD177	57126	broad.mit.edu	37	19	43859816	43859816	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:43859816C>T	ENST00000607517.1	+	0	439				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TTCCTAGACCCAGGATCCTTG	0.542																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule							73.0	72.0	72.0					19																	43859816		1913	4138	6051			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43859816C>T	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43859816C>T						CD177_ENST00000607517.1_RNA		NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN			0	425	+		Prostate(69;0.00682)						Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	RNA	SNP	ENST00000607517.1	37			.	.	.	.	.	.	.	.	.	.	c	14.05	2.420867	0.42918	.	.	ENSG00000204936	ENST00000378009	T	0.09911	2.93	3.27	-0.161	0.13371	.	.	.	.	.	T	0.11879	0.0289	L	0.56769	1.78	0.09310	N	0.999992	P	0.35872	0.525	B	0.38500	0.275	T	0.22312	-1.0220	9	0.56958	D	0.05	.	5.7786	0.18294	0.0:0.6299:0.0:0.37	.	128	Q8N6Q3	CD177_HUMAN	L	128	ENSP00000367248:P128L	ENSP00000367248:P128L	P	+	2	0	CD177	48551656	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	0.429000	0.21412	0.086000	0.17137	0.502000	0.49764	CCA		0.542	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		23	26	0	0	0	1	0	23	26				
RSPH4A	345895	broad.mit.edu	37	6	116948843	116948843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:116948843G>A	ENST00000229554.5	+	3	1110	c.973G>A	c.(973-975)Gct>Act	p.A325T	RSPH4A_ENST00000368581.4_Missense_Mutation_p.A325T|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	325					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTTGAACAAGCTGGAGTTGG	0.423									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(973-975)Gct>Act		radial spoke head 4 homolog A (Chlamydomonas)							105.0	108.0	107.0					6																	116948843		2203	4300	6503	SO:0001583	missense	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116948843G>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.973G>A	6.37:g.116948843G>A	ENSP00000229554:p.Ala325Thr					RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.A325T	p.A325T	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1110	+			325					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.973G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762068	0.89932	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.20738	2.05;2.05	5.48	5.48	0.80851	.	0.104637	0.64402	D	0.000004	T	0.37785	0.1016	M	0.67953	2.075	0.58432	D	0.999995	D;D	0.89917	0.972;1.0	P;D	0.80764	0.891;0.994	T	0.12993	-1.0526	10	0.62326	D	0.03	-15.5707	16.8276	0.85935	0.0:0.0:1.0:0.0	.	325;325	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	T	325;325;120	ENSP00000357570:A325T;ENSP00000229554:A325T	ENSP00000229554:A325T	A	+	1	0	RSPH4A	117055536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.468000	0.97676	2.542000	0.85734	0.591000	0.81541	GCT		0.423	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		27	64	0	0	0	1	0	27	64				
IFT57	55081	broad.mit.edu	37	3	107938390	107938390	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:107938390C>T	ENST00000264538.3	-	2	489	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	81					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			GAACTGTTCGCCAGGGTTGGT	0.423																																						ENST00000264538.3																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(241-243)gGc>gAc		intraflagellar transport 57 homolog (Chlamydomonas)							92.0	87.0	89.0					3																	107938390		2203	4299	6502	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107938390C>T	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.242G>A	3.37:g.107938390C>T	ENSP00000264538:p.Gly81Asp						p.G81D	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		2	489	-			81					Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.242G>A	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448907	0.96205	.	.	ENSG00000114446	ENST00000264538;ENST00000492106	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84666	0.0709	9	0.54805	T	0.06	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	81	Q9NWB7	IFT57_HUMAN	D	81;112	.	ENSP00000264538:G81D	G	-	2	0	IFT57	109421080	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.624000	0.83124	2.941000	0.99782	0.655000	0.94253	GGC		0.423	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		24	40	0	0	0	1	0	24	40				
ZNF76	7629	broad.mit.edu	37	6	35258057	35258057	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:35258057C>T	ENST00000373953.3	+	6	713	c.447C>T	c.(445-447)agC>agT	p.S149S	ZNF76_ENST00000339411.5_Silent_p.S149S|ZNF76_ENST00000440666.2_Silent_p.S123S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	149					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S149S(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTCATGACAGCCAGATTCCCC	0.532																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			1	Substitution - coding silent(1)	p.S149S(1)	large_intestine(1)	breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(445-447)agC>agT		zinc finger protein 76							205.0	194.0	198.0					6																	35258057		2203	4300	6503	SO:0001819	synonymous_variant	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35258057C>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.447C>T	6.37:g.35258057C>T						ZNF76_ENST00000440666.2_Silent_p.S123S|ZNF76_ENST00000339411.5_Silent_p.S149S	p.S149S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			6	713	+			149					Q9BQB2	Silent	SNP	ENST00000373953.3	37	c.447C>T	CCDS4801.1																																																																																				0.532	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		35	198	0	0	0	1	0	35	198				
TBX4	9496	broad.mit.edu	37	17	59556129	59556129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:59556129C>T	ENST00000240335.1	+	5	736	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	TBX4_ENST00000393853.4_Nonsense_Mutation_p.Q231*|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	231					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCTCCTACCAGAATCACAA	0.547																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(691-693)Cag>Tag		T-box 4							160.0	134.0	143.0					17																	59556129		2203	4300	6503	SO:0001587	stop_gained	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59556129C>T	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.691C>T	17.37:g.59556129C>T	ENSP00000240335:p.Gln231*					TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Nonsense_Mutation_p.Q231*	p.Q231*			P57082	TBX4_HUMAN			6	854	+			231					A5PKU7|B2RMT1|B7ZLV3	Nonsense_Mutation	SNP	ENST00000240335.1	37	c.691C>T	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	C	37	6.580120	0.97680	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	.	.	.	5.94	5.94	0.96194	.	0.099307	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9413	0.92607	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	.	Q	+	1	0	TBX4	56910911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	CAG		0.547	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		7	127	0	0	0	1	0	7	127				
SBNO1	55206	broad.mit.edu	37	12	123829961	123829961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123829961G>A	ENST00000602398.1	-	4	521	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	SBNO1_ENST00000420886.2_Missense_Mutation_p.P132S|SBNO1_ENST00000602750.1_Missense_Mutation_p.P131S|SBNO1_ENST00000267176.4_Missense_Mutation_p.P131S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	132					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GAGACTGACGGGCGTGTGCTT	0.408																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(394-396)Ccg>Tcg		strawberry notch homolog 1 (Drosophila)							287.0	242.0	257.0					12																	123829961		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123829961G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.394C>T	12.37:g.123829961G>A	ENSP00000473665:p.Pro132Ser					SBNO1_ENST00000602750.1_Missense_Mutation_p.P131S|SBNO1_ENST00000267176.4_Missense_Mutation_p.P131S|SBNO1_ENST00000602398.1_Missense_Mutation_p.P132S	p.P132S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	3	393	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		132					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.394C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570163	0.45798	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.28255	1.62;1.62	5.74	5.74	0.90152	.	0.062767	0.64402	D	0.000003	T	0.20414	0.0491	N	0.19112	0.55	0.36742	D	0.882301	B;B;B	0.25667	0.08;0.131;0.078	B;B;B	0.22601	0.018;0.04;0.037	T	0.09487	-1.0672	10	0.07175	T	0.84	-19.1544	18.1163	0.89556	0.0:0.0:1.0:0.0	.	132;131;130	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	S	132;131;131	ENSP00000387361:P132S;ENSP00000267176:P131S	ENSP00000267176:P131S	P	-	1	0	SBNO1	122395914	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.839000	0.62810	2.715000	0.92844	0.655000	0.94253	CCG		0.408	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		19	177	0	0	0	1	0	19	177				
SCN2A	6326	broad.mit.edu	37	2	166243321	166243321	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166243321C>T	ENST00000375437.2	+	26	4907	c.4617C>T	c.(4615-4617)atC>atT	p.I1539I	SCN2A_ENST00000375427.2_Silent_p.I1539I|SCN2A_ENST00000357398.3_Silent_p.I1539I|SCN2A_ENST00000283256.6_Silent_p.I1539I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1539					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)			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)	GCATCATGATCCTCATCTGCC	0.358																																						ENST00000375437.2																			0				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						c.(4615-4617)atC>atT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						157.0	140.0	146.0					2																	166243321		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166243321C>T	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.4617C>T	2.37:g.166243321C>T						SCN2A_ENST00000375427.2_Silent_p.I1539I|SCN2A_ENST00000357398.3_Silent_p.I1539I|SCN2A_ENST00000283256.6_Silent_p.I1539I	p.I1539I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			26	4907	+			1539					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.4617C>T	CCDS33314.1																																																																																				0.358	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		19	48	0	0	0	1	0	19	48				
SCARF1	8578	broad.mit.edu	37	17	1540095	1540095	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1540095G>A	ENST00000263071.4	-	10	1590	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	SCARF1_ENST00000348987.3_Missense_Mutation_p.S428F|SCARF1_ENST00000571272.1_Silent_p.L502L	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	514	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAGCCGGCAGAGGGCGGCTC	0.602																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1540-1542)tCt>tTt		scavenger receptor class F, member 1							121.0	126.0	125.0					17																	1540095		2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1540095G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1541C>T	17.37:g.1540095G>A	ENSP00000263071:p.Ser514Phe					SCARF1_ENST00000348987.3_Missense_Mutation_p.S428F|SCARF1_ENST00000571272.1_Silent_p.L502L	p.S514F	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1590	-			514			Pro/Ser-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.1541C>T	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	g	26.8	4.776347	0.90195	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.42513	0.97;0.97	5.15	5.15	0.70609	.	0.000000	0.40640	N	0.001042	T	0.67392	0.2888	.	.	.	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.985	T	0.71603	-0.4543	9	0.87932	D	0	-16.6054	19.0118	0.92875	0.0:0.0:1.0:0.0	.	428;514	Q14162-2;Q14162	.;SREC_HUMAN	F	514;428	ENSP00000263071:S514F;ENSP00000323964:S428F	ENSP00000263071:S514F	S	-	2	0	SCARF1	1486845	1.000000	0.71417	0.960000	0.40013	0.967000	0.64934	9.472000	0.97709	2.580000	0.87095	0.556000	0.70494	TCT		0.602	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		7	175	0	0	0	1	0	7	175				
ACE2	59272	broad.mit.edu	37	X	15613076	15613076	+	Silent	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:15613076A>G	ENST00000252519.3	-	2	339	c.237T>C	c.(235-237)ctT>ctC	p.L79L	ACE2_ENST00000427411.1_Silent_p.L79L			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	79					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	ACATTTGGGCAAGTGTGGACT	0.418																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(235-237)ctT>ctC		angiotensin I converting enzyme 2	Moexipril(DB00691)						222.0	202.0	209.0					X																	15613076		2203	4300	6503	SO:0001819	synonymous_variant	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15613076A>G	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.237T>C	X.37:g.15613076A>G						ACE2_ENST00000252519.3_Silent_p.L79L	p.L79L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			3	453	-	Hepatocellular(33;0.183)		79					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Silent	SNP	ENST00000252519.3	37	c.237T>C	CCDS14169.1																																																																																				0.418	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			108	185	0	0	0	1	0	108	185				
ST7L	54879	broad.mit.edu	37	1	113126693	113126693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:113126693C>T	ENST00000358039.4	-	7	1061	c.757G>A	c.(757-759)Gct>Act	p.A253T	ST7L_ENST00000369669.1_Missense_Mutation_p.A70T|ST7L_ENST00000369666.1_Missense_Mutation_p.A236T|ST7L_ENST00000490067.1_Missense_Mutation_p.A236T|ST7L_ENST00000538187.1_Missense_Mutation_p.A197T|ST7L_ENST00000360743.4_Missense_Mutation_p.A253T|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Missense_Mutation_p.A253T|ST7L_ENST00000544629.1_Missense_Mutation_p.A188T|ST7L_ENST00000543570.1_Missense_Mutation_p.A236T|ST7L_ENST00000343210.7_Missense_Mutation_p.A253T	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	253					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCTTTCAGCATCTACAATA	0.418																																						ENST00000358039.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15						c.(757-759)Gct>Act		suppression of tumorigenicity 7 like							144.0	126.0	132.0					1																	113126693		2203	4300	6503	SO:0001583	missense	54879				negative regulation of cell growth	integral to membrane	binding	g.chr1:113126693C>T	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.757G>A	1.37:g.113126693C>T	ENSP00000350734:p.Ala253Thr					ST7L_ENST00000490067.1_Missense_Mutation_p.A236T|ST7L_ENST00000369666.1_Missense_Mutation_p.A236T|ST7L_ENST00000544629.1_Missense_Mutation_p.A188T|ST7L_ENST00000543570.1_Missense_Mutation_p.A236T|ST7L_ENST00000538187.1_Missense_Mutation_p.A197T|ST7L_ENST00000369669.1_Missense_Mutation_p.A70T|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000360743.4_Missense_Mutation_p.A253T|ST7L_ENST00000343210.7_Missense_Mutation_p.A253T|ST7L_ENST00000369668.2_Missense_Mutation_p.A253T	p.A253T	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1061	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	253					A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	c.757G>A	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.751700|4.751700	0.89753|0.89753	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369665;ENST00000369664|ENST00000418497	D;T;D;D;T;T;T;T;T;D;T|.	0.89681|.	-2.55;-0.93;-2.55;-2.55;-0.93;-0.93;-0.93;-0.93;-0.93;-2.55;1.7|.	5.9|5.9	5.9|5.9	0.94986|0.94986	Tetratricopeptide-like helical (1);|.	0.049474|.	0.85682|.	D|.	0.000000|.	T|T	0.71804|0.71804	0.3383|0.3383	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	B;P;P;B;B;B;B;B|.	0.50819|.	0.345;0.739;0.939;0.168;0.296;0.167;0.428;0.201|.	B;P;P;B;B;B;B;B|.	0.53224|.	0.367;0.458;0.721;0.17;0.17;0.121;0.17;0.192|.	T|T	0.68622|0.68622	-0.5360|-0.5360	10|5	0.72032|.	D|.	0.01|.	-5.3832|-5.3832	19.8673|19.8673	0.96808|0.96808	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	236;197;188;253;236;236;253;253|.	B7Z8V6;B7Z7D4;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4|.	.;.;.;.;.;.;.;ST7L_HUMAN|.	T|I	253;253;131;188;70;236;253;253;236;197;236;131;197|124	ENSP00000350734:A253T;ENSP00000353972:A253T;ENSP00000445499:A188T;ENSP00000358683:A70T;ENSP00000417140:A236T;ENSP00000358682:A253T;ENSP00000345312:A253T;ENSP00000358680:A236T;ENSP00000444021:A197T;ENSP00000444088:A236T;ENSP00000358678:A197T|.	ENSP00000345312:A253T|.	A|M	-|-	1|3	0|0	ST7L|ST7L	112928216|112928216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.184000|7.184000	0.77705|0.77705	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GCT|ATG		0.418	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			5	66	0	0	0	1	0	5	66				
CKM	1158	broad.mit.edu	37	19	45818840	45818840	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45818840C>T	ENST00000221476.3	-	4	538	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	122					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TAGTTAGGGTCCAGGTCGTCT	0.677																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(364-366)Gac>Aac		creatine kinase, muscle	Creatine(DB00148)						38.0	38.0	38.0					19																	45818840		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45818840C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.364G>A	19.37:g.45818840C>T	ENSP00000221476:p.Asp122Asn						p.D122N	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	4	538	-		Ovarian(192;0.0336)|all_neural(266;0.112)	122					Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.364G>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498514	0.64298	.	.	ENSG00000104879	ENST00000221476	T	0.25579	1.79	3.6	3.6	0.41247	ATP:guanido phosphotransferase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	H	0.95745	3.715	0.58432	D	0.999999	P	0.52577	0.954	P	0.57244	0.816	T	0.70960	-0.4730	10	0.72032	D	0.01	-28.8988	12.8241	0.57710	0.0:1.0:0.0:0.0	.	122	P06732	KCRM_HUMAN	N	122	ENSP00000221476:D122N	ENSP00000221476:D122N	D	-	1	0	CKM	50510680	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.207000	0.77899	1.874000	0.54306	0.306000	0.20318	GAC		0.677	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			6	25	0	0	0	1	0	6	25				
MICAL2	9645	broad.mit.edu	37	11	12278487	12278487	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:12278487C>T	ENST00000256194.4	+	24	3399	c.3111C>T	c.(3109-3111)cgC>cgT	p.R1037R	MICAL2_ENST00000537344.1_Silent_p.R847R|MICAL2_ENST00000342902.5_Silent_p.R1016R|MICAL2_ENST00000379612.3_Silent_p.R811R|MICAL2_ENST00000527546.1_Silent_p.R847R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1037	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCACCTTGCGCCTGGCCGCCT	0.622																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3109-3111)cgC>cgT		microtubule associated monooxygenase, calponin and LIM domain containing 2							85.0	72.0	76.0					11																	12278487		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12278487C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3111C>T	11.37:g.12278487C>T						MICAL2_ENST00000527546.1_Silent_p.R847R|MICAL2_ENST00000537344.1_Silent_p.R847R|MICAL2_ENST00000379612.3_Silent_p.R811R|MICAL2_ENST00000342902.5_Silent_p.R1016R	p.R1037R	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	24	3399	+			1037			LIM zinc-binding.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.3111C>T	CCDS7809.1																																																																																				0.622	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		7	19	0	0	0	1	0	7	19				
FBXL4	26235	broad.mit.edu	37	6	99365486	99365486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:99365486C>T	ENST00000369244.2	-	5	1050	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	FBXL4_ENST00000229971.1_Missense_Mutation_p.E208K	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	208					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTATTTACTTCCAGTCGTATA	0.403																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(622-624)Gaa>Aaa		F-box and leucine-rich repeat protein 4							108.0	111.0	110.0					6																	99365486		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99365486C>T	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.622G>A	6.37:g.99365486C>T	ENSP00000358247:p.Glu208Lys					FBXL4_ENST00000229971.1_Missense_Mutation_p.E208K	p.E208K			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	5	1050	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	208					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.622G>A	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369908	0.95900	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.27557	1.66;1.66	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	M	0.82716	2.605	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.59799	-0.7386	10	0.72032	D	0.01	.	19.2495	0.93917	0.0:1.0:0.0:0.0	.	208	Q9UKA2	FBXL4_HUMAN	K	208	ENSP00000358247:E208K;ENSP00000229971:E208K	ENSP00000229971:E208K	E	-	1	0	FBXL4	99472207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.647000	0.89833	0.467000	0.42956	GAA		0.403	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			8	81	0	0	0	1	0	8	81				
GCC1	79571	broad.mit.edu	37	7	127224345	127224345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:127224345C>T	ENST00000321407.2	-	1	1316	c.892G>A	c.(892-894)Gag>Aag	p.E298K	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	298					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCTCCACCTCACGGGTCAGC	0.537											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(892-894)Gag>Aag		GRIP and coiled-coil domain containing 1							94.0	92.0	93.0					7																	127224345		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224345C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.892G>A	7.37:g.127224345C>T	ENSP00000318821:p.Glu298Lys		OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.E298K	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	1316	-			298					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.892G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434915	0.62955	.	.	ENSG00000179562	ENST00000321407	T	0.15603	2.41	5.91	5.02	0.67125	.	0.149733	0.64402	D	0.000016	T	0.22627	0.0546	M	0.68593	2.085	0.58432	D	0.999991	B	0.24483	0.104	B	0.27608	0.081	T	0.02009	-1.1230	10	0.36615	T	0.2	-25.934	14.4744	0.67537	0.0:0.8386:0.1614:0.0	.	298	Q96CN9	GCC1_HUMAN	K	298	ENSP00000318821:E298K	ENSP00000318821:E298K	E	-	1	0	GCC1	127011581	0.999000	0.42202	0.882000	0.34594	0.967000	0.64934	4.245000	0.58734	1.467000	0.48044	0.655000	0.94253	GAG		0.537	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		7	78	0	0	0	1	0	7	78				
DGKQ	1609	broad.mit.edu	37	4	955825	955825	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:955825G>A	ENST00000273814.3	-	19	2333	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	754					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCAGGCTCAGCTCCGCGTCG	0.637																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2260-2262)Ctg>Ttg		diacylglycerol kinase, theta 110kDa							127.0	121.0	123.0					4																	955825		2203	4300	6503	SO:0001819	synonymous_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955825G>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2260C>T	4.37:g.955825G>A							p.L754L	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		19	2333	-			754					Q6P3W4	Silent	SNP	ENST00000273814.3	37	c.2260C>T	CCDS3342.1																																																																																				0.637	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			52	86	0	0	0	1	0	52	86				
EPB41L1	2036	broad.mit.edu	37	20	34773051	34773051	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:34773051C>T	ENST00000338074.2	+	7	740	c.579C>T	c.(577-579)tgC>tgT	p.C193C	EPB41L1_ENST00000373941.1_Silent_p.C193C|EPB41L1_ENST00000441639.1_Silent_p.C131C|EPB41L1_ENST00000373950.2_Silent_p.C96C|EPB41L1_ENST00000202028.5_Silent_p.C131C|EPB41L1_ENST00000373946.3_Silent_p.C162C	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	193	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			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)					ACTACCTGTGCCTGCAGCTGC	0.592																																						ENST00000338074.2																			0				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						c.(577-579)tgC>tgT		erythrocyte membrane protein band 4.1-like 1							61.0	59.0	60.0					20																	34773051		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34773051C>T	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.579C>T	20.37:g.34773051C>T						EPB41L1_ENST00000373946.3_Silent_p.C162C|EPB41L1_ENST00000373941.1_Silent_p.C193C|EPB41L1_ENST00000373950.2_Silent_p.C96C|EPB41L1_ENST00000202028.5_Silent_p.C131C|EPB41L1_ENST00000441639.1_Silent_p.C131C	p.C193C	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			7	740	+	Breast(12;0.0239)		193			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.579C>T	CCDS13271.1																																																																																				0.592	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		13	41	0	0	0	1	0	13	41				
COL26A1	136227	broad.mit.edu	37	7	101063376	101063376	+	RNA	SNP	G	G	A	rs563017448		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:101063376G>A	ENST00000397927.3	+	0	490				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											CGCCAACCTCGTAAGGTAAAG	0.657													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17841	0.0		0.0	False		,,,				2504	0.0					ENST00000313669.7																			0													collagen, type XXVI, alpha 1							31.0	39.0	36.0					7																	101063376		1979	4160	6139			136227							g.chr7:101063376G>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063376G>A						COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA		NM_133457.2	NP_597714.2					0	469	+								Q32M90	RNA	SNP	ENST00000397927.3	37			.	.	.	.	.	.	.	.	.	.	G	12.16	1.854766	0.32791	.	.	ENSG00000160963	ENST00000313669	D	0.90676	-2.71	4.95	4.95	0.65309	EMI domain (2);	0.000000	0.33650	U	0.004695	D	0.84419	0.5468	N	0.25992	0.78	0.24345	N	0.994948	P;P	0.48503	0.911;0.911	B;B	0.39904	0.313;0.313	T	0.79162	-0.1917	10	0.41790	T	0.15	.	15.7219	0.77718	0.0:0.0:1.0:0.0	.	93;93	Q96A83;C9JPW4	EMID2_HUMAN;.	I	93	ENSP00000318234:V93I	ENSP00000318234:V93I	V	+	1	0	EMID2	100850096	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.347000	0.65998	2.310000	0.77875	0.558000	0.71614	GTA		0.657	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		34	50	0	0	0	1	0	34	50				
TAF5	6877	broad.mit.edu	37	10	105133243	105133243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105133243G>A	ENST00000369839.3	+	2	711	c.688G>A	c.(688-690)Gac>Aac	p.D230N	TAF5_ENST00000351396.4_Missense_Mutation_p.D230N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	230					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ATGTTCCCTGGACTGCCATCG	0.428																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(688-690)Gac>Aac		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							171.0	154.0	160.0					10																	105133243		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105133243G>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.688G>A	10.37:g.105133243G>A	ENSP00000358854:p.Asp230Asn					TAF5_ENST00000351396.4_Missense_Mutation_p.D230N	p.D230N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	711	+		Colorectal(252;0.0747)|Breast(234;0.128)	230					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.688G>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236885	0.95240	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.68765	0.0;-0.35	5.13	5.13	0.70059	TFIID subunit, WD40-associated region (1);	0.000000	0.85682	D	0.000000	D	0.86045	0.5839	M	0.90977	3.165	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.994;0.998	D	0.89389	0.3687	10	0.87932	D	0	-15.068	18.571	0.91135	0.0:0.0:1.0:0.0	.	230;230	Q15542-2;Q15542	.;TAF5_HUMAN	N	230	ENSP00000358854:D230N;ENSP00000311024:D230N	ENSP00000311024:D230N	D	+	1	0	TAF5	105123233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.390000	0.81377	0.555000	0.69702	GAC		0.428	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			36	63	0	0	0	1	0	36	63				
EWSR1	2130	broad.mit.edu	37	22	29684742	29684742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:29684742G>A	ENST00000397938.2	+	8	1260	c.941G>A	c.(940-942)aGa>aAa	p.R314K	EWSR1_ENST00000331029.7_Missense_Mutation_p.R314K|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000333395.6_Missense_Mutation_p.R314K|EWSR1_ENST00000332035.6_Missense_Mutation_p.R258K|EWSR1_ENST00000414183.2_Missense_Mutation_p.R320K|EWSR1_ENST00000406548.1_Missense_Mutation_p.R314K	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	314	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCATGAGCAGAGGTGGGCGG	0.532			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(940-942)aGa>aAa		EWS RNA-binding protein 1							31.0	30.0	30.0					22																	29684742		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29684742G>A		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.941G>A	22.37:g.29684742G>A	ENSP00000381031:p.Arg314Lys					EWSR1_ENST00000333395.6_Missense_Mutation_p.R314K|EWSR1_ENST00000406548.1_Missense_Mutation_p.R314K|EWSR1_ENST00000332035.6_Missense_Mutation_p.R258K|EWSR1_ENST00000414183.2_Missense_Mutation_p.R320K|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000331029.7_Missense_Mutation_p.R314K	p.R314K	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			8	1260	+			314			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.941G>A	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902171	0.72754	.	.	ENSG00000182944	ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000332035	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.94	4.93	0.64822	.	0.150070	0.40064	U	0.001191	T	0.32102	0.0818	M	0.74647	2.275	0.80722	D	1	B;B;B;B;B;B	0.15141	0.012;0.0;0.001;0.001;0.0;0.0	B;B;B;B;B;B	0.09377	0.004;0.001;0.002;0.002;0.001;0.001	T	0.26189	-1.0110	10	0.06891	T	0.86	.	14.9968	0.71439	0.0679:0.0:0.9321:0.0	.	258;314;258;320;314;314	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;.;EWS_HUMAN;.	K	314;314;314;320;314;258	ENSP00000381031:R314K;ENSP00000385726:R314K;ENSP00000330516:R314K;ENSP00000400142:R320K;ENSP00000327456:R314K;ENSP00000331699:R258K	ENSP00000330516:R314K	R	+	2	0	EWSR1	28014742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.625000	0.67770	1.523000	0.49018	0.650000	0.86243	AGA		0.532	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		4	35	0	0	0	1	0	4	35				
MYO1F	4542	broad.mit.edu	37	19	8616658	8616658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:8616658C>T	ENST00000338257.8	-	8	1004	c.737G>A	c.(736-738)gGc>gAc	p.G246D	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	246	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCGTCCGTGCCGTCCACCTG	0.602																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(736-738)gGc>gAc		myosin IF							146.0	149.0	148.0					19																	8616658		2066	4201	6267	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8616658C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.737G>A	19.37:g.8616658C>T	ENSP00000344871:p.Gly246Asp						p.G246D	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			8	1004	-			246			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.737G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038000	0.35989	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95788	-3.81	4.2	4.2	0.49525	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93684	0.7982	L	0.49699	1.58	0.80722	D	1	P;B	0.35628	0.513;0.082	B;B	0.39876	0.312;0.209	D	0.92798	0.6254	10	0.32370	T	0.25	.	15.2954	0.73902	0.0:1.0:0.0:0.0	.	246;246	B0I1T1;O00160	.;MYO1F_HUMAN	D	291;246	ENSP00000344871:G246D	ENSP00000304899:G291D	G	-	2	0	MYO1F	8522658	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.536000	0.45693	2.195000	0.70347	0.557000	0.71058	GGC		0.602	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			6	82	0	0	0	1	0	6	82				
PREX2	80243	broad.mit.edu	37	8	69005927	69005927	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:69005927G>A	ENST00000288368.4	+	21	2615	c.2338G>A	c.(2338-2340)Gca>Aca	p.A780T	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	780					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGAGATGAAGCAGGGGATGC	0.413																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2338-2340)Gca>Aca		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							106.0	109.0	108.0					8																	69005927		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69005927G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2338G>A	8.37:g.69005927G>A	ENSP00000288368:p.Ala780Thr					RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	p.A780T	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			21	2615	+			780					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2338G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612674	0.28712	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.35605	1.3	5.67	2.83	0.33086	.	0.346354	0.31519	N	0.007508	T	0.23572	0.0570	N	0.22421	0.69	0.26258	N	0.978625	B;B;B	0.13594	0.008;0.001;0.0	B;B;B	0.22386	0.039;0.017;0.001	T	0.19224	-1.0312	10	0.62326	D	0.03	.	7.538	0.27721	0.0659:0.1218:0.6857:0.1265	.	780;780;780	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	T	780	ENSP00000288368:A780T	ENSP00000288368:A780T	A	+	1	0	PREX2	69168481	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.007000	0.57093	0.295000	0.22570	0.655000	0.94253	GCA		0.413	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		4	88	0	0	0	1	0	4	88				
KCNA6	3742	broad.mit.edu	37	12	4919690	4919690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:4919690G>A	ENST00000280684.3	+	1	1349	c.483G>A	c.(481-483)tgG>tgA	p.W161*	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Nonsense_Mutation_p.W161*			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	161					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCCAGGTGTGGCTGCTCTTTG	0.647										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(481-483)tgG>tgA		potassium voltage-gated channel, shaker-related subfamily, member 6							37.0	39.0	38.0					12																	4919690		2203	4300	6503	SO:0001587	stop_gained	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919690G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.483G>A	12.37:g.4919690G>A	ENSP00000280684:p.Trp161*	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Nonsense_Mutation_p.W161*	p.W161*	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1349	+			161						Nonsense_Mutation	SNP	ENST00000280684.3	37	c.483G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	45	11.562055	0.99576	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1914	0.86880	0.0:0.0:1.0:0.0	.	.	.	.	X	161	.	ENSP00000280684:W161X	W	+	3	0	KCNA6	4789951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.637000	0.98443	2.524000	0.85096	0.563000	0.77884	TGG		0.647	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		15	54	0	0	0	1	0	15	54				
RTP2	344892	broad.mit.edu	37	3	187416609	187416609	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:187416609C>T	ENST00000358241.1	-	2	783	c.355G>A	c.(355-357)Gac>Aac	p.D119N		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	119					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		ATGAGGTTGTCCACCAGGCCC	0.667																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(355-357)Gac>Aac		receptor (chemosensory) transporter protein 2							29.0	25.0	27.0					3																	187416609		2203	4296	6499	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416609C>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.355G>A	3.37:g.187416609C>T	ENSP00000350976:p.Asp119Asn						p.D119N	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	783	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		119					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.355G>A	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942503	0.53079	.	.	ENSG00000198471	ENST00000358241	T	0.21932	1.98	4.04	4.04	0.47022	.	0.258584	0.43110	D	0.000604	T	0.19604	0.0471	N	0.12443	0.215	0.34315	D	0.685856	D	0.58970	0.984	P	0.60886	0.88	T	0.02646	-1.1129	10	0.07990	T	0.79	-62.9792	11.9954	0.53198	0.0:1.0:0.0:0.0	.	119	Q5QGT7	RTP2_HUMAN	N	119	ENSP00000350976:D119N	ENSP00000350976:D119N	D	-	1	0	RTP2	188899303	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.981000	0.40628	2.552000	0.86080	0.462000	0.41574	GAC		0.667	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		9	21	0	0	0	1	0	9	21				
CAMSAP2	23271	broad.mit.edu	37	1	200776612	200776612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:200776612G>A	ENST00000236925.4	+	3	557	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A170T|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.A170T			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	170					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TTTTTTTCAAGCCACAGATCT	0.398																																						ENST00000358823.2																			0											c.(508-510)Gcc>Acc		calmodulin regulated spectrin-associated protein family, member 2							129.0	119.0	122.0					1																	200776612		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200776612G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.508G>A	1.37:g.200776612G>A	ENSP00000236925:p.Ala170Thr					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.A170T|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A170T	p.A170T	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			3	778	+			170					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.508G>A		.	.	.	.	.	.	.	.	.	.	G	13.48	2.250625	0.39797	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14391	2.53;2.51;2.53	4.97	4.97	0.65823	.	0.281727	0.39475	N	0.001343	T	0.05777	0.0151	N	0.02011	-0.69	0.40599	D	0.981569	B;B;B	0.18863	0.008;0.031;0.008	B;B;B	0.14578	0.011;0.006;0.007	T	0.33574	-0.9863	10	0.44086	T	0.13	-17.164	11.8376	0.52336	0.0796:0.0:0.9204:0.0	.	170;170;170	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	T	170	ENSP00000351684:A170T;ENSP00000416800:A170T;ENSP00000236925:A170T	ENSP00000236925:A170T	A	+	1	0	CAMSAP1L1	199043235	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.207000	0.42788	2.591000	0.87537	0.563000	0.77884	GCC		0.398	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		30	44	0	0	0	1	0	30	44				
ATP6V0A2	23545	broad.mit.edu	37	12	124235757	124235757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:124235757G>A	ENST00000330342.3	+	16	2284	c.2036G>A	c.(2035-2037)aGt>aAt	p.S679N	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	679					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AATGGGCGTAGTTGCTTCGGG	0.488																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2035-2037)aGt>aAt		ATPase, H+ transporting, lysosomal V0 subunit a2							228.0	181.0	197.0					12																	124235757		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124235757G>A	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2036G>A	12.37:g.124235757G>A	ENSP00000332247:p.Ser679Asn						p.S679N	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	16	2284	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		679					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2036G>A	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377248	0.24944	.	.	ENSG00000185344	ENST00000330342	D	0.86097	-2.07	5.75	3.9	0.45041	.	0.618940	0.19084	N	0.123178	T	0.73401	0.3582	N	0.17838	0.53	0.22317	N	0.999209	B	0.02656	0.0	B	0.08055	0.003	T	0.61564	-0.7037	10	0.35671	T	0.21	-10.9815	9.9049	0.41370	0.1576:0.0:0.8424:0.0	.	679	Q9Y487	VPP2_HUMAN	N	679	ENSP00000332247:S679N	ENSP00000332247:S679N	S	+	2	0	ATP6V0A2	122801710	0.052000	0.20516	0.034000	0.17996	0.554000	0.35429	1.834000	0.39171	1.404000	0.46819	0.655000	0.94253	AGT		0.488	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		7	177	0	0	0	1	0	7	177				
GNE	10020	broad.mit.edu	37	9	36234002	36234002	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:36234002C>T	ENST00000539815.1	-	4	937	c.897G>A	c.(895-897)ggG>ggA	p.G299G	GNE_ENST00000543356.2_Silent_p.G294G|GNE_ENST00000447283.2_Silent_p.G299G|GNE_ENST00000539208.1_Silent_p.G189G|GNE_ENST00000377902.5_Silent_p.G299G|GNE_ENST00000396594.3_Silent_p.G330G			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	299					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AGCTGCTGTTCCCAATCATAC	0.473																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(988-990)ggG>ggA		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							184.0	165.0	171.0					9																	36234002		2203	4300	6503	SO:0001819	synonymous_variant	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36234002C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.897G>A	9.37:g.36234002C>T						GNE_ENST00000447283.2_Silent_p.G299G|GNE_ENST00000543356.2_Silent_p.G294G|GNE_ENST00000539208.1_Silent_p.G189G|GNE_ENST00000377902.5_Silent_p.G299G|GNE_ENST00000539815.1_Silent_p.G299G	p.G330G	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		5	1101	-			299					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Silent	SNP	ENST00000539815.1	37	c.990G>A	CCDS6602.1																																																																																				0.473	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		81	152	0	0	0	1	0	81	152				
MYO3A	53904	broad.mit.edu	37	10	26463298	26463298	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:26463298G>A	ENST00000265944.5	+	30	4271	c.4105G>A	c.(4105-4107)Gac>Aac	p.D1369N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1369	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTTGAGGAAGGACAAGATGTC	0.433																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4105-4107)Gac>Aac		myosin IIIA							152.0	138.0	143.0					10																	26463298		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463298G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4105G>A	10.37:g.26463298G>A	ENSP00000265944:p.Asp1369Asn					MYO3A_ENST00000543632.1_Intron	p.D1369N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4271	+			1369			IQ 3.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4105G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797191	0.50208	.	.	ENSG00000095777	ENST00000265944	T	0.79454	-1.27	5.73	4.77	0.60923	.	0.306242	0.40064	N	0.001191	T	0.67887	0.2941	L	0.40543	1.245	0.80722	D	1	P	0.35433	0.501	B	0.29785	0.107	T	0.67146	-0.5744	10	0.30078	T	0.28	.	15.5447	0.76090	0.0:0.0:0.8614:0.1386	.	1369	Q8NEV4	MYO3A_HUMAN	N	1369	ENSP00000265944:D1369N	ENSP00000265944:D1369N	D	+	1	0	MYO3A	26503304	1.000000	0.71417	0.038000	0.18304	0.008000	0.06430	6.069000	0.71209	2.706000	0.92434	0.563000	0.77884	GAC		0.433	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		33	74	0	0	0	1	0	33	74				
MYH7	4625	broad.mit.edu	37	14	23898194	23898194	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:23898194G>A	ENST00000355349.3	-	14	1539	c.1377C>T	c.(1375-1377)gtC>gtT	p.V459V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	459	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			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)		CGATGTCCAGGACTCCTATGA	0.537																																						ENST00000355349.3																			0				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						c.(1375-1377)gtC>gtT		myosin, heavy chain 7, cardiac muscle, beta							103.0	89.0	94.0					14																	23898194		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898194G>A	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.1377C>T	14.37:g.23898194G>A							p.V459V	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1539	-	all_cancers(95;2.54e-05)		459			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.1377C>T	CCDS9601.1																																																																																				0.537	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		25	40	0	0	0	1	0	25	40				
MOCOS	55034	broad.mit.edu	37	18	33779661	33779661	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:33779661C>T	ENST00000261326.5	+	4	336	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGGCGCACTTCCACACCACCG	0.557																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(313-315)ttC>ttT		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						79.0	77.0	78.0					18																	33779661		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33779661C>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.315C>T	18.37:g.33779661C>T							p.F105F	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			4	336	+			105						Silent	SNP	ENST00000261326.5	37	c.315C>T	CCDS11919.1																																																																																				0.557	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			36	67	0	0	0	1	0	36	67				
IFRD1	3475	broad.mit.edu	37	7	112097102	112097102	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:112097102C>T	ENST00000403825.3	+	4	670				IFRD1_ENST00000429071.1_Missense_Mutation_p.L140F|IFRD1_ENST00000005558.4_Intron|IFRD1_ENST00000535603.1_Intron	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1						adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGGTAATGCCCTTATTTTTGA	0.353																																						ENST00000429071.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(418-420)Ctt>Ttt		interferon-related developmental regulator 1							66.0	63.0	64.0					7																	112097102		2203	4300	6503	SO:0001627	intron_variant	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112097102C>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.409+9C>T	7.37:g.112097102C>T						IFRD1_ENST00000535603.1_Intron|IFRD1_ENST00000005558.4_Intron|IFRD1_ENST00000403825.3_Intron	p.L140F			O00458	IFRD1_HUMAN			4	649	+			0					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.418C>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872918	0.51695	.	.	ENSG00000006652	ENST00000429071	.	.	.	5.22	-1.88	0.07713	.	.	.	.	.	T	0.15609	0.0376	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24621	-1.0155	6	.	.	.	.	0.5843	0.00717	0.2513:0.3032:0.124:0.3215	.	140	C9JA65	.	F	140	.	.	L	+	1	0	IFRD1	111884338	0.039000	0.19947	0.000000	0.03702	0.265000	0.26407	-0.047000	0.11963	-0.301000	0.08882	-1.265000	0.01443	CTT		0.353	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		8	73	0	0	0	1	0	8	73				
CYP26B1	56603	broad.mit.edu	37	2	72359586	72359586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:72359586C>T	ENST00000001146.2	-	6	1512	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	CYP26B1_ENST00000412253.1_Missense_Mutation_p.G246S|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G362S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	437					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCGGACACCGCCACCGAAC	0.647																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1309-1311)Ggt>Agt		cytochrome P450, family 26, subfamily B, polypeptide 1							69.0	59.0	63.0					2																	72359586		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359586C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1309G>A	2.37:g.72359586C>T	ENSP00000001146:p.Gly437Ser					CYP26B1_ENST00000412253.1_Missense_Mutation_p.G246S|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G362S	p.G437S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1512	-			437					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1309G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864064	0.91511	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	D;D;D	0.98849	-5.18;-5.18;-5.18	5.64	4.74	0.60224	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98720	1.0708	10	0.87932	D	0	-31.7115	15.4221	0.75022	0.0:0.8603:0.1397:0.0	.	362;420;437	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	S	437;246;362	ENSP00000001146:G437S;ENSP00000401465:G246S;ENSP00000443304:G362S	ENSP00000001146:G437S	G	-	1	0	CYP26B1	72213094	1.000000	0.71417	0.578000	0.28575	0.697000	0.40408	7.813000	0.86123	1.476000	0.48215	0.655000	0.94253	GGT		0.647	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		13	35	0	0	0	1	0	13	35				
SLX4	84464	broad.mit.edu	37	16	3639546	3639546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:3639546C>T	ENST00000294008.3	-	12	4733	c.4093G>A	c.(4093-4095)Gac>Aac	p.D1365N		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1365	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGGGCGCGGTCCCCTGAGATG	0.657								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4093-4095)Gac>Aac	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							45.0	53.0	50.0					16																	3639546		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639546C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4093G>A	16.37:g.3639546C>T	ENSP00000294008:p.Asp1365Asn						p.D1365N	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4733	-			1365			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.4093G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390096	0.25118	.	.	ENSG00000188827	ENST00000294008	T	0.01133	5.29	4.91	0.594	0.17485	.	1.564580	0.03707	N	0.249592	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47328	-0.9126	10	0.14656	T	0.56	.	4.0856	0.09945	0.1626:0.5752:0.0:0.2622	.	1365	Q8IY92	SLX4_HUMAN	N	1365	ENSP00000294008:D1365N	ENSP00000294008:D1365N	D	-	1	0	SLX4	3579547	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.243000	0.18106	-0.113000	0.11958	0.563000	0.77884	GAC		0.657	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		24	58	0	0	0	1	0	24	58				
TCEB3	6924	broad.mit.edu	37	1	24077740	24077740	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:24077740C>T	ENST00000418390.2	+	4	994	c.723C>T	c.(721-723)agC>agT	p.S241S	TCEB3_ENST00000609199.1_Silent_p.S215S	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	241					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)			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)		AAGGCCACAGCAATGCCTTTC	0.547											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(721-723)agC>agT		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							81.0	89.0	86.0					1																	24077740		2203	4300	6503	SO:0001819	synonymous_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24077740C>T	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.723C>T	1.37:g.24077740C>T			OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.S241S	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		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)	4	994	+		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)	241					B2R7Q8|Q8IXH1	Silent	SNP	ENST00000418390.2	37	c.723C>T	CCDS239.2																																																																																				0.547	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		29	67	0	0	0	1	0	29	67				
ANTXR1	84168	broad.mit.edu	37	2	69397407	69397407	+	Missense_Mutation	SNP	G	G	A	rs372820177		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69397407G>A	ENST00000303714.4	+	14	1397	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	ANTXR1_ENST00000409349.3_Missense_Mutation_p.A359T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	359					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCACCCCCTGCCGAGGAGAG	0.567									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1075-1077)Gcc>Acc		anthrax toxin receptor 1		G	THR/ALA,THR/ALA	0,4406		0,0,2203	72.0	68.0	69.0		1075,1075	5.0	1.0	2		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANTXR1	NM_053034.2,NM_032208.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	359/369,359/565	69397407	1,13005	2203	4300	6503	SO:0001583	missense	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69397407G>A	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.1075G>A	2.37:g.69397407G>A	ENSP00000301945:p.Ala359Thr					ANTXR1_ENST00000409349.3_Missense_Mutation_p.A359T	p.A359T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			14	1397	+			359					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1075G>A	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	G	9.460	1.092791	0.20471	0.0	1.16E-4	ENSG00000169604	ENST00000303714;ENST00000409349	T;T	0.30182	1.54;1.94	4.98	4.98	0.66077	.	0.709229	0.14426	N	0.320344	T	0.27349	0.0671	L	0.36672	1.1	0.29773	N	0.834587	B;B	0.18741	0.03;0.003	B;B	0.18871	0.008;0.023	T	0.07693	-1.0759	10	0.45353	T	0.12	-7.121	13.9538	0.64135	0.0:0.0:1.0:0.0	.	359;359	Q9H6X2;Q9H6X2-2	ANTR1_HUMAN;.	T	359	ENSP00000301945:A359T;ENSP00000386494:A359T	ENSP00000301945:A359T	A	+	1	0	ANTXR1	69250911	0.970000	0.33590	0.987000	0.45799	0.385000	0.30292	3.500000	0.53318	2.746000	0.94184	0.655000	0.94253	GCC		0.567	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		8	36	0	0	0	1	0	8	36				
ZNF217	7764	broad.mit.edu	37	20	52199260	52199260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:52199260C>T	ENST00000371471.2	-	2	531	c.106G>A	c.(106-108)Gat>Aat	p.D36N	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.D36N			O75362	ZN217_HUMAN	zinc finger protein 217	36					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GACAAGGCATCCTCCATCTCC	0.468																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(106-108)Gat>Aat		zinc finger protein 217							108.0	101.0	103.0					20																	52199260		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52199260C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.106G>A	20.37:g.52199260C>T	ENSP00000360526:p.Asp36Asn					ZNF217_ENST00000302342.3_Missense_Mutation_p.D36N	p.D36N			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	531	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		36					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.106G>A	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228971	0.39399	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000431687	T;T	0.11712	2.75;2.75	5.79	4.85	0.62838	.	0.115168	0.56097	D	0.000040	T	0.22085	0.0532	L	0.32530	0.975	0.09310	N	0.999999	D	0.89917	1.0	D	0.71870	0.975	T	0.03887	-1.0995	10	0.56958	D	0.05	-32.4503	14.3605	0.66768	0.0:0.9286:0.0:0.0714	.	36	O75362	ZN217_HUMAN	N	36	ENSP00000360526:D36N;ENSP00000304308:D36N	ENSP00000304308:D36N	D	-	1	0	ZNF217	51632667	0.957000	0.32711	0.009000	0.14445	0.004000	0.04260	4.607000	0.61133	1.449000	0.47699	0.655000	0.94253	GAT		0.468	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		5	78	0	0	0	1	0	5	78				
NRXN1	9378	broad.mit.edu	37	2	51153075	51153075	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:51153075C>T	ENST00000406316.2	-	3	2267		c.e3+1		NRXN1_ENST00000404971.1_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000405581.1_Splice_Site|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000402717.3_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			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)			AAAGCACCCACCTTCCACATT	0.393																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.e4+1		neurexin 1							102.0	95.0	98.0					2																	51153075		1943	4128	6071	SO:0001630	splice_region_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51153075C>T	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.790+1G>A	2.37:g.51153075C>T						NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000405581.1_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site		NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		4	2229	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)						A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Splice_Site	SNP	ENST00000406316.2	37		CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596886	0.86953	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000405581	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2751	0.94029	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRXN1	51006579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.598000	0.67585	2.644000	0.89710	0.655000	0.94253	.		0.393	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		Intron	2	2	0	0	0	1	0	2	2				
TMEM35	59353	broad.mit.edu	37	X	100349926	100349926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100349926G>A	ENST00000372930.4	+	2	768	c.485G>A	c.(484-486)gGc>gAc	p.G162D	TRMT2B-AS1_ENST00000443801.2_RNA|TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	162						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GCCCCTCAGGGCAAAGTGAAG	0.507																																						ENST00000372930.4																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(484-486)gGc>gAc		transmembrane protein 35							49.0	46.0	47.0					X																	100349926		2203	4300	6503	SO:0001583	missense	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100349926G>A	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.485G>A	X.37:g.100349926G>A	ENSP00000362021:p.Gly162Asp					TMEM35_ENST00000478351.1_3'UTR	p.G162D	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			2	768	+			162					Q9H7Y3	Missense_Mutation	SNP	ENST00000372930.4	37	c.485G>A	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601351	0.46423	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	4.78	4.78	0.61160	.	0.157844	0.56097	D	0.000023	T	0.33000	0.0848	N	0.08118	0	0.34332	D	0.687756	B	0.28378	0.209	B	0.27076	0.076	T	0.49943	-0.8885	9	0.54805	T	0.06	-2.087	12.7018	0.57038	0.0:0.0:0.8351:0.1649	.	162	Q53FP2	TMM35_HUMAN	D	162;121	.	ENSP00000362021:G162D	G	+	2	0	TMEM35	100236582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.005000	0.63972	2.284000	0.76573	0.594000	0.82650	GGC		0.507	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		5	59	0	0	0	1	0	5	59				
OR2T27	403239	broad.mit.edu	37	1	248813375	248813375	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:248813375C>T	ENST00000344889.3	-	1	810	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			ACAGCTTTGTCCTGCTCAGGG	0.522																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(811-813)Gac>Aac		olfactory receptor, family 2, subfamily T, member 27							67.0	59.0	61.0					1																	248813375		2183	4274	6457	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813375C>T		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.811G>A	1.37:g.248813375C>T	ENSP00000342008:p.Asp271Asn						p.D271N	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	810	-	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)	271						Missense_Mutation	SNP	ENST00000344889.3	37	c.811G>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	10.62	1.402065	0.25291	.	.	ENSG00000187701	ENST00000344889	T	0.00216	8.53	3.42	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000799	T	0.00328	0.0010	M	0.64260	1.97	0.09310	N	1	P	0.43169	0.8	P	0.51453	0.67	T	0.45571	-0.9252	10	0.72032	D	0.01	.	12.2727	0.54716	0.0:1.0:0.0:0.0	.	271	Q8NH04	O2T27_HUMAN	N	271	ENSP00000342008:D271N	ENSP00000342008:D271N	D	-	1	0	OR2T27	246879998	0.000000	0.05858	0.804000	0.32291	0.064000	0.16182	0.283000	0.18846	1.921000	0.55644	0.400000	0.26472	GAC		0.522	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		24	4	0	0	0	1	0	24	4				
TAOK2	9344	broad.mit.edu	37	16	29997901	29997901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29997901C>T	ENST00000308893.4	+	16	3351	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.P597S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	770					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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CACAGGCACCCCTATAGAACA	0.632																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2308-2310)Cct>Tct		TAO kinase 2							48.0	55.0	53.0					16																	29997901		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29997901C>T	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.2308C>T	16.37:g.29997901C>T	ENSP00000310094:p.Pro770Ser					TAOK2_ENST00000416441.2_Missense_Mutation_p.P597S|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron	p.P770S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3351	+			770					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.2308C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134283	0.37630	.	.	ENSG00000149930	ENST00000308893	T	0.70282	-0.47	5.32	4.37	0.52481	.	0.319285	0.22809	N	0.055369	T	0.48607	0.1509	N	0.08118	0	0.29488	N	0.85587	B;B;B	0.17667	0.023;0.001;0.023	B;B;B	0.20384	0.029;0.002;0.029	T	0.39418	-0.9615	9	.	.	.	.	11.2755	0.49163	0.0:0.9131:0.0:0.0869	.	961;597;770	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	S	770	ENSP00000310094:P770S	.	P	+	1	0	TAOK2	29905402	0.946000	0.32159	1.000000	0.80357	0.929000	0.56500	1.663000	0.37429	1.257000	0.44085	0.563000	0.77884	CCT		0.632	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		21	70	0	0	0	1	0	21	70				
TNRC6B	23112	broad.mit.edu	37	22	40661411	40661411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:40661411G>A	ENST00000454349.2	+	5	1388	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G393R|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	393	Interaction with argonaute proteins.				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)			breast(1)	1						GGAGAATAAGGGAATGCCCTT	0.483																																						ENST00000454349.2																			0				breast(1)	1						c.(1177-1179)Gga>Aga		trinucleotide repeat containing 6B							64.0	64.0	64.0					22																	40661411		1931	4134	6065	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40661411G>A	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.1177G>A	22.37:g.40661411G>A	ENSP00000401946:p.Gly393Arg					TNRC6B_ENST00000335727.8_Missense_Mutation_p.G393R|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	p.G393R	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	1388	+			393					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.1177G>A	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211427	0.39102	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.61274	0.12;0.12	5.07	5.07	0.68467	.	0.113265	0.64402	D	0.000018	T	0.70806	0.3266	L	0.46157	1.445	0.43021	D	0.994576	D;B;B	0.89917	1.0;0.064;0.106	D;B;B	0.87578	0.998;0.028;0.062	T	0.71935	-0.4442	10	0.49607	T	0.09	-2.9211	17.4698	0.87642	0.0:0.0:1.0:0.0	.	393;393;393	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	R	393	ENSP00000401946:G393R;ENSP00000338371:G393R	ENSP00000338371:G393R	G	+	1	0	TNRC6B	38991357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.586000	0.67503	2.369000	0.80426	0.650000	0.86243	GGA		0.483	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				12	45	0	0	0	1	0	12	45				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		10	106	1	0	1.08611e-07	1	1.09007e-07	10	106				
MFSD3	113655	broad.mit.edu	37	8	145737151	145737151	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145737151C>T	ENST00000301327.4	+	0	1548				CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.V1139I|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCGCAGCGGACCTGGTCCTCC	0.642																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(3415-3417)Gtc>Atc	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							60.0	71.0	68.0					8																	145737151		2179	4273	6452	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737151C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737151C>T						RECQL4_ENST00000532237.1_5'UTR	p.V1139I	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		21	3456	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1139						Missense_Mutation	SNP	ENST00000301327.4	37	c.3415G>A	CCDS6431.1																																																																																				0.642	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		19	66	0	0	0	1	0	19	66				
SERPINF2	5345	broad.mit.edu	37	17	1657716	1657716	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1657716A>G	ENST00000324015.3	+	10	1441	c.1364A>G	c.(1363-1365)gAc>gGc	p.D455G	SERPINF2_ENST00000450523.2_Missense_Mutation_p.D391G|SERPINF2_ENST00000382061.4_Missense_Mutation_p.D455G	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	455				D -> N (in Ref. 10; AA sequence). {ECO:0000305}.	acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	GGCAACAAGGACTTCCTCCAG	0.612																																						ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1363-1365)gAc>gGc		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						88.0	89.0	89.0					17																	1657716		2203	4300	6503	SO:0001583	missense	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1657716A>G	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1364A>G	17.37:g.1657716A>G	ENSP00000321853:p.Asp455Gly					SERPINF2_ENST00000382061.4_Missense_Mutation_p.D455G|SERPINF2_ENST00000450523.2_Missense_Mutation_p.D391G	p.D455G	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1441	+			455	D -> N (in Ref. 8; AA sequence).				B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	c.1364A>G	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319964	0.23994	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000382061	D;D;D	0.85411	-1.96;-1.98;-1.96	5.19	-0.0295	0.13917	.	0.620825	0.15437	N	0.262419	T	0.76716	0.4026	M	0.62723	1.935	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.60622	-0.7227	9	.	.	.	.	1.5385	0.02550	0.4732:0.1512:0.0837:0.2918	.	391;455	B4E1B7;P08697	.;A2AP_HUMAN	G	455;391;455	ENSP00000321853:D455G;ENSP00000403877:D391G;ENSP00000371493:D455G	.	D	+	2	0	SERPINF2	1604466	0.144000	0.22641	0.001000	0.08648	0.023000	0.10783	1.621000	0.36986	0.001000	0.14605	0.459000	0.35465	GAC		0.612	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		9	110	0	0	0	1	0	9	110				
GPRASP1	9737	broad.mit.edu	37	X	101911168	101911168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:101911168G>A	ENST00000361600.5	+	5	3128	c.2327G>A	c.(2326-2328)gGg>gAg	p.G776E	GPRASP1_ENST00000444152.1_Missense_Mutation_p.G776E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G776E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.G776E	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	776	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCTGAGGAGGGGGACATTATT	0.493																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2326-2328)gGg>gAg		G protein-coupled receptor associated sorting protein 1							97.0	101.0	99.0					X																	101911168		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911168G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2327G>A	X.37:g.101911168G>A	ENSP00000355146:p.Gly776Glu					GPRASP1_ENST00000444152.1_Missense_Mutation_p.G776E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G776E|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G776E	p.G776E	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3140	+			776			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2327G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	2.693	-0.272713	0.05716	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	2.68	-0.22	0.13130	.	.	.	.	.	T	0.01661	0.0053	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46048	-0.9219	9	0.02654	T	1	-0.5363	4.4648	0.11684	0.6475:0.0:0.3525:0.0	.	776	Q5JY77	GASP1_HUMAN	E	776	ENSP00000393691:G776E;ENSP00000409420:G776E;ENSP00000355146:G776E;ENSP00000445683:G776E	ENSP00000355146:G776E	G	+	2	0	GPRASP1	101797824	0.000000	0.05858	0.002000	0.10522	0.071000	0.16799	0.133000	0.15912	-0.055000	0.13244	-0.729000	0.03580	GGG		0.493	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		45	75	0	0	0	1	0	45	75				
EFCAB7	84455	broad.mit.edu	37	1	63999796	63999796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:63999796C>T	ENST00000371088.4	+	6	959	c.713C>T	c.(712-714)aCc>aTc	p.T238I	RNU7-123P_ENST00000515911.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	238							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CTGTCAGCAACCAGGAAGTTC	0.373																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(712-714)aCc>aTc		EF-hand calcium binding domain 7							122.0	119.0	120.0					1																	63999796		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999796C>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.713C>T	1.37:g.63999796C>T	ENSP00000360129:p.Thr238Ile						p.T238I	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			6	959	+			238					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.713C>T	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	7.669	0.686497	0.14973	.	.	ENSG00000203965	ENST00000371088	T	0.59083	0.29	5.65	2.68	0.31781	.	0.678303	0.15916	N	0.238362	T	0.26666	0.0652	L	0.36672	1.1	0.30422	N	0.777978	B	0.20671	0.047	B	0.19148	0.024	T	0.12604	-1.0541	10	0.62326	D	0.03	-0.3839	9.3999	0.38426	0.2787:0.565:0.1563:0.0	.	238	A8K855	EFCB7_HUMAN	I	238	ENSP00000360129:T238I	ENSP00000360129:T238I	T	+	2	0	EFCAB7	63772384	0.143000	0.22626	0.253000	0.24343	0.678000	0.39670	0.942000	0.29017	0.281000	0.22233	-0.169000	0.13324	ACC		0.373	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		4	88	0	0	0	1	0	4	88				
ARFGAP2	84364	broad.mit.edu	37	11	47193314	47193314	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47193314C>T	ENST00000524782.1	-	9	938	c.710G>A	c.(709-711)aGc>aAc	p.S237N	ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.S130N|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S101N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	237	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTCTGGCTGCTCACCTTCTG	0.597																																						ENST00000524782.1																			0				breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(709-711)aGc>aAc		ADP-ribosylation factor GTPase activating protein 2							67.0	66.0	66.0					11																	47193314		2201	4299	6500	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47193314C>T	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.710G>A	11.37:g.47193314C>T	ENSP00000434442:p.Ser237Asn					ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.S130N|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S101N	p.S237N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN			9	938	-			237			Required for interaction with coatomer.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.710G>A	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980850	0.74474	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000419701;ENST00000527927;ENST00000525398;ENST00000525314	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.95	5.95	0.96441	.	0.159640	0.64402	D	0.000001	T	0.69495	0.3117	M	0.72118	2.19	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.995	D;D;D	0.75484	0.94;0.986;0.958	T	0.64330	-0.6433	10	0.35671	T	0.21	-22.2643	20.3932	0.98965	0.0:1.0:0.0:0.0	.	130;101;237	B4DX29;G5E9L0;Q8N6H7	.;.;ARFG2_HUMAN	N	101;237;130;101;251;251	ENSP00000400226:S101N;ENSP00000434442:S237N;ENSP00000389264:S130N;ENSP00000434433:S101N;ENSP00000431939:S251N;ENSP00000434809:S251N	ENSP00000389264:S130N	S	-	2	0	ARFGAP2	47149890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	AGC		0.597	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		7	73	0	0	0	1	0	7	73				
ATM	472	broad.mit.edu	37	11	108204677	108204677	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:108204677C>T	ENST00000452508.2	+	55	8181	c.7992C>T	c.(7990-7992)gtC>gtT	p.V2664V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.V2664V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2664					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGTTGTTGTCCCTACTATGG	0.254			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7990-7992)gtC>gtT	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							131.0	143.0	139.0					11																	108204677		2200	4298	6498	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108204677C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7992C>T	11.37:g.108204677C>T		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.V2664V|C11orf65_ENST00000525729.1_Intron	p.V2664V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	54	8377	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2664					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.7992C>T	CCDS31669.1																																																																																				0.254	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		9	161	0	0	0	1	0	9	161				
CASKIN2	57513	broad.mit.edu	37	17	73501002	73501002	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:73501002G>A	ENST00000321617.3	-	11	1669	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	CASKIN2_ENST00000433559.2_Silent_p.T279T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	361						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGCAGGGGGGTGGGTGCGG	0.697																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1081-1083)acC>acT		CASK interacting protein 2							17.0	19.0	19.0					17																	73501002		2198	4290	6488	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73501002G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1083C>T	17.37:g.73501002G>A						CASKIN2_ENST00000433559.2_Silent_p.T279T	p.T361T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1669	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		361					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.1083C>T	CCDS11723.1																																																																																				0.697	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		9	13	0	0	0	1	0	9	13				
ZNF577	84765	broad.mit.edu	37	19	52383604	52383604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52383604C>T	ENST00000301399.5	-	4	397	c.32G>A	c.(31-33)aGg>aAg	p.R11K	ZNF577_ENST00000451628.2_Missense_Mutation_p.R11K|ZNF577_ENST00000420592.1_Missense_Mutation_p.R11K|ZNF577_ENST00000412216.1_Missense_Mutation_p.R11K|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ttgctctctcctcacagacat	0.433																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(31-33)aGg>aAg		zinc finger protein 577							248.0	226.0	233.0					19																	52383604		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52383604C>T	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.32G>A	19.37:g.52383604C>T	ENSP00000301399:p.Arg11Lys					ZNF577_ENST00000301399.5_Missense_Mutation_p.R11K|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.R11K|ZNF577_ENST00000412216.1_Missense_Mutation_p.R11K	p.R11K			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	3	1365	-		all_neural(266;0.0602)	0					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.32G>A	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	0.957	-0.704400	0.03255	.	.	ENSG00000161551	ENST00000412216;ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390;ENST00000453272;ENST00000446514;ENST00000419138	T;T;T;T;T;T;T	0.05925	5.79;3.38;3.43;3.43;3.37;4.48;4.27	1.95	0.868	0.19090	.	.	.	.	.	T	0.05273	0.0140	N	0.16656	0.425	0.09310	N	1	P;P	0.50156	0.932;0.93	P;P	0.52957	0.672;0.714	T	0.11275	-1.0594	9	0.05721	T	0.95	.	5.6114	0.17408	0.323:0.677:0.0:0.0	.	11;11	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	K	11	ENSP00000394828:R11K;ENSP00000301399:R11K;ENSP00000413476:R11K;ENSP00000389652:R11K;ENSP00000404509:R11K;ENSP00000413560:R11K;ENSP00000415307:R11K	ENSP00000301399:R11K	R	-	2	0	ZNF577	57075416	0.011000	0.17503	0.161000	0.22692	0.158000	0.22134	0.081000	0.14823	0.356000	0.24157	0.467000	0.42956	AGG		0.433	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		55	111	0	0	0	1	0	55	111				
RLIM	51132	broad.mit.edu	37	X	73812780	73812780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:73812780C>T	ENST00000332687.6	-	4	588	c.370G>A	c.(370-372)Gca>Aca	p.A124T	RLIM_ENST00000349225.2_Missense_Mutation_p.A124T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	124					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACTCACTGCTCTCCAAGAT	0.383																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(370-372)Gca>Aca		ring finger protein, LIM domain interacting							156.0	141.0	146.0					X																	73812780		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812780C>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.370G>A	X.37:g.73812780C>T	ENSP00000328059:p.Ala124Thr					RLIM_ENST00000349225.2_Missense_Mutation_p.A124T	p.A124T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	588	-			124					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.370G>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873459	0.72180	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.06849	3.25;3.25	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00181	-1.1947	10	0.72032	D	0.01	-4.7104	19.7362	0.96205	0.0:1.0:0.0:0.0	.	124	Q9NVW2	RNF12_HUMAN	T	124	ENSP00000328059:A124T;ENSP00000253571:A124T	ENSP00000328059:A124T	A	-	1	0	RLIM	73729505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.618000	0.88619	0.600000	0.82982	GCA		0.383	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	153	0	0	0	1	0	4	153				
EIF2B4	8890	broad.mit.edu	37	2	27587706	27587706	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27587706C>T	ENST00000347454.4	-	12	1422	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	EIF2B4_ENST00000493344.2_Silent_p.R438R|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000451130.2_Silent_p.R437R|EIF2B4_ENST00000445933.2_Silent_p.R416R	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	417					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTCCCTACCCGTGACATCA	0.498																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(1312-1314)cgG>cgA		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							78.0	69.0	72.0					2																	27587706		2203	4300	6503	SO:0001819	synonymous_variant	0				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27587706C>T	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.1251G>A	2.37:g.27587706C>T						EIF2B4_ENST00000445933.2_Silent_p.R416R|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000347454.4_Silent_p.R417R|EIF2B4_ENST00000451130.2_Silent_p.R437R	p.R438R			Q9UI10	EI2BD_HUMAN			11	1626	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		417					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Silent	SNP	ENST00000347454.4	37	c.1314G>A	CCDS33164.1																																																																																				0.498	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			19	24	0	0	0	1	0	19	24				
WWP2	11060	broad.mit.edu	37	16	69963364	69963364	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:69963364C>T	ENST00000359154.2	+	12	1349	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D	WWP2_ENST00000448661.1_Silent_p.D416D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000356003.2_Silent_p.D416D|WWP2_ENST00000542271.1_Silent_p.D300D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	416	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAGACAGGACAATGGACGGG	0.572																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1246-1248)gaC>gaT		WW domain containing E3 ubiquitin protein ligase 2							55.0	51.0	52.0					16																	69963364		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69963364C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1248C>T	16.37:g.69963364C>T						WWP2_ENST00000542271.1_Silent_p.D300D|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000356003.2_Silent_p.D416D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.D416D	p.D416D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			12	1349	+			416			WW 3.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.1248C>T	CCDS10885.1																																																																																				0.572	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		13	25	0	0	0	1	0	13	25				
FAM83C	128876	broad.mit.edu	37	20	33879718	33879718	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33879718C>T	ENST00000374408.3	-	1	486	c.390G>A	c.(388-390)ctG>ctA	p.L130L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	130										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGGCCAGCCCAGGTCCAGGT	0.642																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(388-390)ctG>ctA		family with sequence similarity 83, member C							63.0	68.0	66.0					20																	33879718		2203	4300	6503	SO:0001819	synonymous_variant	128876							g.chr20:33879718C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.390G>A	20.37:g.33879718C>T							p.L130L	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	486	-			130					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.390G>A	CCDS13251.1																																																																																				0.642	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			39	55	0	0	0	1	0	39	55				
PYGM	5837	broad.mit.edu	37	11	64527272	64527272	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64527272G>A	ENST00000164139.3	-	1	497	c.99C>T	c.(97-99)aaC>aaT	p.N33N	PYGM_ENST00000377432.3_Silent_p.N33N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	33					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGGTGCCGGTTGAAGTTCT	0.577																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(97-99)aaC>aaT		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						229.0	212.0	218.0					11																	64527272		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64527272G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.99C>T	11.37:g.64527272G>A						PYGM_ENST00000377432.3_Silent_p.N33N	p.N33N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			1	497	-			33					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.99C>T	CCDS8079.1																																																																																				0.577	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		67	144	0	0	0	1	0	67	144				
JAKMIP1	152789	broad.mit.edu	37	4	6055818	6055818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:6055818C>T	ENST00000282924.5	-	13	2250	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.D589N|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.D589N|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.D424N|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D404N	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	589	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGTTCTGATCCTTGGCGTCT	0.438																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1765-1767)Gat>Aat		janus kinase and microtubule interacting protein 1							213.0	203.0	207.0					4																	6055818		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6055818C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1765G>A	4.37:g.6055818C>T	ENSP00000282924:p.Asp589Asn					JAKMIP1_ENST00000282924.5_Missense_Mutation_p.D589N|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D404N|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.D424N|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.D589N	p.D589N	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			13	2214	-			589			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1765G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251930	0.95336	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.49720	1.25;0.77;1.33;1.33;0.87	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000008	T	0.71187	0.3310	M	0.78049	2.395	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.74535	-0.3633	10	0.87932	D	0	.	18.4392	0.90658	0.0:1.0:0.0:0.0	.	424;404;589;589	B4DHZ8;Q96N16-5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	N	589;404;481;589;589;424	ENSP00000386711:D589N;ENSP00000387042:D404N;ENSP00000282924:D589N;ENSP00000386925:D589N;ENSP00000386745:D424N	ENSP00000282924:D589N	D	-	1	0	JAKMIP1	6106719	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	7.425000	0.80255	2.593000	0.87608	0.655000	0.94253	GAT		0.438	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		13	226	0	0	0	1	0	13	226				
TMEM174	134288	broad.mit.edu	37	5	72469392	72469392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:72469392G>A	ENST00000296776.5	+	1	371	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	108						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGAGGAAAGGGTCCCGGACTC	0.532																																						ENST00000296776.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(322-324)Gtc>Atc		transmembrane protein 174							97.0	99.0	98.0					5																	72469392		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469392G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.322G>A	5.37:g.72469392G>A	ENSP00000296776:p.Val108Ile					TMEM174_ENST00000511737.1_3'UTR	p.V108I	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	371	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	108					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.322G>A	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	3.849	-0.032230	0.07543	.	.	ENSG00000164325	ENST00000296776	.	.	.	6.02	1.49	0.22878	.	1.378570	0.04388	N	0.361978	T	0.16727	0.0402	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20605	-1.0270	9	0.14252	T	0.57	-13.1195	6.7491	0.23477	0.206:0.4108:0.3832:0.0	.	108	Q8WUU8	TM174_HUMAN	I	108	.	ENSP00000296776:V108I	V	+	1	0	TMEM174	72505148	0.002000	0.14202	0.668000	0.29813	0.451000	0.32288	-0.096000	0.11059	0.749000	0.32854	0.655000	0.94253	GTC		0.532	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		12	77	0	0	0	1	0	12	77				
KTN1	3895	broad.mit.edu	37	14	56079061	56079061	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:56079061C>T	ENST00000395314.3	+	2	363	c.295C>T	c.(295-297)Cct>Tct	p.P99S	KTN1_ENST00000416613.1_Missense_Mutation_p.P99S|KTN1_ENST00000438792.2_Missense_Mutation_p.P99S|KTN1_ENST00000395308.1_Missense_Mutation_p.P99S|KTN1_ENST00000395311.1_Missense_Mutation_p.P99S|KTN1_ENST00000395309.3_Missense_Mutation_p.P99S|KTN1_ENST00000413890.2_Missense_Mutation_p.P99S	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	99					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TCAAGTTGCACCTGTTCCATT	0.398			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(295-297)Cct>Tct		kinectin 1 (kinesin receptor)							87.0	91.0	90.0					14																	56079061		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56079061C>T		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.295C>T	14.37:g.56079061C>T	ENSP00000378725:p.Pro99Ser					KTN1_ENST00000395309.3_Missense_Mutation_p.P99S|KTN1_ENST00000413890.2_Missense_Mutation_p.P99S|KTN1_ENST00000395308.1_Missense_Mutation_p.P99S|KTN1_ENST00000395311.1_Missense_Mutation_p.P99S|KTN1_ENST00000438792.2_Missense_Mutation_p.P99S|KTN1_ENST00000395314.3_Missense_Mutation_p.P99S	p.P99S			Q86UP2	KTN1_HUMAN			1	367	+			99					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.295C>T	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897336	0.52121	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21;-5.21;-5.21;-5.21	5.5	4.61	0.57282	.	0.000000	0.53938	D	0.000055	D	0.97495	0.9180	L	0.50333	1.59	0.45087	D	0.9981	P;P;P;P	0.47910	0.838;0.902;0.838;0.743	P;P;P;B	0.47430	0.547;0.547;0.547;0.392	D	0.96525	0.9388	10	0.40728	T	0.16	-1.9049	12.6975	0.57012	0.1305:0.744:0.1255:0.0	.	99;99;99;99	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	S	99	ENSP00000394992:P99S;ENSP00000378720:P99S;ENSP00000391964:P99S;ENSP00000378725:P99S;ENSP00000378719:P99S;ENSP00000378722:P99S;ENSP00000388807:P99S	ENSP00000378719:P99S	P	+	1	0	KTN1	55148814	0.986000	0.35501	1.000000	0.80357	0.526000	0.34562	1.592000	0.36676	1.324000	0.45282	0.591000	0.81541	CCT		0.398	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			5	61	0	0	0	1	0	5	61				
TBK1	29110	broad.mit.edu	37	12	64875623	64875623	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:64875623G>A	ENST00000331710.5	+	8	1153	c.814G>A	c.(814-816)Ggt>Agt	p.G272S		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|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)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CTATTTTAGGGGTCTTCAGGT	0.348																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.e8-1		TANK-binding kinase 1							56.0	56.0	56.0					12																	64875623		2203	4300	6503	SO:0001630	splice_region_variant	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64875623G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.813-1G>A	12.37:g.64875623G>A							p.G272_splice	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	8	1153	+			272			Protein kinase.		A8K4S4|Q8IYV3|Q9NUJ5	Splice_Site	SNP	ENST00000331710.5	37	c.812_splice	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285475	0.80803	.	.	ENSG00000183735	ENST00000331710	T	0.39229	1.09	5.16	5.16	0.70880	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56438	-0.7979	9	.	.	.	-10.7466	19.0272	0.92937	0.0:0.0:1.0:0.0	.	272	Q9UHD2	TBK1_HUMAN	S	272	ENSP00000329967:G272S	.	G	+	1	0	TBK1	63161890	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	9.219000	0.95173	2.579000	0.87056	0.460000	0.39030	GGT		0.348	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	Missense_Mutation	6	60	0	0	0	1	0	6	60				
SFRP4	6424	broad.mit.edu	37	7	37955882	37955882	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:37955882G>A	ENST00000436072.2	-	1	635	c.258C>T	c.(256-258)acC>acT	p.T86T	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	86	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGAACTCCAGGGTGCAAATGG	0.622																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(256-258)acC>acT		secreted frizzled-related protein 4							100.0	82.0	88.0					7																	37955882		2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955882G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.258C>T	7.37:g.37955882G>A						EPDR1_ENST00000476620.1_Intron	p.T86T	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	635	-			86			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.258C>T	CCDS5453.1																																																																																				0.622	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		17	57	0	0	0	1	0	17	57				
SCAF1	58506	broad.mit.edu	37	19	50158054	50158054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:50158054C>T	ENST00000360565.3	+	9	3669	c.3545C>T	c.(3544-3546)cCc>cTc	p.P1182L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1182					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCCCCACCCCCACCGGGCTG	0.697																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3544-3546)cCc>cTc		SR-related CTD-associated factor 1							19.0	22.0	21.0					19																	50158054		2199	4286	6485	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50158054C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3545C>T	19.37:g.50158054C>T	ENSP00000353769:p.Pro1182Leu						p.P1182L	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	9	3669	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1182					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.3545C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	c	16.20	3.056824	0.55325	.	.	ENSG00000126461	ENST00000360565	T	0.39056	1.1	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000023	T	0.51618	0.1685	N	0.24115	0.695	0.58432	D	0.999996	D	0.76494	0.999	D	0.71414	0.973	T	0.55541	-0.8125	10	0.72032	D	0.01	-27.8866	17.7019	0.88298	0.0:1.0:0.0:0.0	.	1182	Q9H7N4	SFR19_HUMAN	L	1182	ENSP00000353769:P1182L	ENSP00000353769:P1182L	P	+	2	0	SCAF1	54849866	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	3.285000	0.51716	2.716000	0.92895	0.651000	0.88453	CCC		0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		15	22	0	0	0	1	0	15	22				
CNOT10	25904	broad.mit.edu	37	3	32805970	32805970	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:32805970G>A	ENST00000328834.5	+	16	2180	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	CNOT10_ENST00000331889.6_Missense_Mutation_p.A595T|CNOT10_ENST00000454516.2_Missense_Mutation_p.A682T	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	622				A -> T (in Ref. 1; BAB14478). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TGAAAATGAAGCAATGGAATC	0.383																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(1864-1866)Gca>Aca		CCR4-NOT transcription complex, subunit 10							123.0	126.0	125.0					3																	32805970		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32805970G>A	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1864G>A	3.37:g.32805970G>A	ENSP00000330060:p.Ala622Thr					CNOT10_ENST00000454516.2_Missense_Mutation_p.A682T|CNOT10_ENST00000331889.6_Missense_Mutation_p.A595T	p.A622T	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			16	2180	+			622	A -> T (in Ref. 1; BAB14478).				B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.1864G>A	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	G	5.854	0.341810	0.11069	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516	T;T;T	0.31769	1.49;1.49;1.48	6.17	4.37	0.52481	Tetratricopeptide-like helical (1);	0.193876	0.53938	D	0.000042	T	0.20536	0.0494	N	0.12182	0.205	0.80722	D	1	B;B;B;B	0.23249	0.053;0.017;0.082;0.01	B;B;B;B	0.28011	0.022;0.009;0.085;0.004	T	0.02617	-1.1133	10	0.19147	T	0.46	-5.5919	16.7169	0.85399	0.0:0.385:0.615:0.0	.	682;595;621;622	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	T	595;622;682	ENSP00000329376:A595T;ENSP00000330060:A622T;ENSP00000399862:A682T	ENSP00000330060:A622T	A	+	1	0	CNOT10	32780974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.685000	0.46959	0.904000	0.36572	0.655000	0.94253	GCA		0.383	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		37	51	0	0	0	1	0	37	51				
KIAA0907	22889	broad.mit.edu	37	1	155886461	155886461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155886461C>T	ENST00000368321.3	-	12	1531	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	KIAA0907_ENST00000368320.3_Missense_Mutation_p.G503E	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	503							RNA binding (GO:0003723)			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)			TGGCTTCGATCCTGCACCTTC	0.408																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1507-1509)gGa>gAa		KIAA0907							152.0	159.0	157.0					1																	155886461		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155886461C>T	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.1508G>A	1.37:g.155886461C>T	ENSP00000357304:p.Gly503Glu					KIAA0907_ENST00000368321.3_Missense_Mutation_p.G503E	p.G503E			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1533	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		503					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1508G>A	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010947	0.54361	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.35048	1.33;1.33	6.17	4.16	0.48862	.	0.226336	0.46145	D	0.000301	T	0.12433	0.0302	N	0.24115	0.695	0.80722	D	1	P;B	0.39883	0.693;0.384	B;B	0.39094	0.29;0.214	T	0.05007	-1.0912	10	0.25751	T	0.34	-3.1182	11.2601	0.49078	0.1319:0.6172:0.2509:0.0	.	503;503	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	E	503	ENSP00000357304:G503E;ENSP00000357303:G503E	ENSP00000357303:G503E	G	-	2	0	KIAA0907	154153085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.981000	0.49329	1.561000	0.49584	0.655000	0.94253	GGA		0.408	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		62	102	0	0	0	1	0	62	102				
NPFFR1	64106	broad.mit.edu	37	10	72025881	72025881	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:72025881C>T	ENST00000277942.6	-	2	273	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	92					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						AAGATGCCCACCAGCAGGTCA	0.567																																						ENST00000277942.5																			0				endometrium(2)|lung(1)	3						c.(274-276)Gtg>Atg		neuropeptide FF receptor 1							85.0	82.0	83.0					10																	72025881		2138	4265	6403	SO:0001583	missense	64106					integral to membrane|plasma membrane	neuropeptide receptor activity	g.chr10:72025881C>T	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	17425	protein-coding gene	gene with protein product	"""neuropeptide FF 1"""	607448	"""G protein-coupled receptor 147"""	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.274G>A	10.37:g.72025881C>T	ENSP00000277942:p.Val92Met						p.V92M	NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN			2	281	-			92					A2RRF0|Q8NGR0|Q96RN3	Missense_Mutation	SNP	ENST00000277942.6	37	c.274G>A	CCDS53539.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799975	0.70567	.	.	ENSG00000148734	ENST00000449957;ENST00000277942	T;T	0.74632	-0.86;-0.86	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78329	-0.2246	10	0.19147	T	0.46	.	16.9605	0.86271	0.0:1.0:0.0:0.0	.	92	Q9GZQ6	NPFF1_HUMAN	M	90;92	ENSP00000401171:V90M;ENSP00000277942:V92M	ENSP00000277942:V92M	V	-	1	0	NPFFR1	71695887	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	5.938000	0.70170	2.347000	0.79759	0.313000	0.20887	GTG		0.567	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2	NM_022146		7	96	0	0	0	1	0	7	96				
PPP2R3B	28227	broad.mit.edu	37	X	295113	295113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:295113C>T	ENST00000390665.3	-	13	1735	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	573					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACAGCGGCTCCAGGTCCTCG	0.711																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(1717-1719)Gag>Aag		protein phosphatase 2, regulatory subunit B'', beta							12.0	19.0	17.0					X																	295113		2159	4250	6409	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:295113C>T	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1717G>A	X.37:g.295113C>T	ENSP00000375080:p.Glu573Lys						p.E573K	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			13	1735	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	573					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.1717G>A	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893289	0.33442	.	.	ENSG00000167393	ENST00000390665	T	0.22336	1.96	1.22	-2.43	0.06522	.	3.106420	0.03858	U	0.273549	T	0.12475	0.0303	L	0.29908	0.895	0.09310	N	1	P	0.40476	0.718	B	0.31245	0.126	T	0.30995	-0.9959	10	0.27785	T	0.31	.	7.7509	0.28896	0.0:0.687:0.313:0.0	.	573	Q9Y5P8	P2R3B_HUMAN	K	573	ENSP00000375080:E573K	ENSP00000375080:E573K	E	-	1	0	PPP2R3B	215113	0.002000	0.14202	0.019000	0.16419	0.010000	0.07245	0.003000	0.13083	-0.211000	0.10124	-0.636000	0.03981	GAG		0.711	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		14	16	0	0	0	1	0	14	16				
BLK	640	broad.mit.edu	37	8	11412947	11412947	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:11412947G>A	ENST00000259089.4	+	8	1318	c.726G>A	c.(724-726)agG>agA	p.R242R	RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Silent_p.R171R|RP11-148O21.6_ENST00000602626.1_lincRNA|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AGTCTCTCAGGCTGGTCAGGA	0.632																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(724-726)agG>agA		B lymphoid tyrosine kinase							97.0	99.0	99.0					8																	11412947		2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11412947G>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.726G>A	8.37:g.11412947G>A						BLK_ENST00000529894.1_Silent_p.R171R	p.R242R	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	8	1318	+			242			Protein kinase.		Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.726G>A	CCDS5982.1																																																																																				0.632	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			4	48	0	0	0	1	0	4	48				
RLIM	51132	broad.mit.edu	37	X	73812206	73812206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:73812206C>T	ENST00000332687.6	-	4	1162	c.944G>A	c.(943-945)aGa>aAa	p.R315K	RLIM_ENST00000349225.2_Missense_Mutation_p.R315K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	315					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTGGAGGTCTCTGTCCTGA	0.478																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(943-945)aGa>aAa		ring finger protein, LIM domain interacting							59.0	50.0	53.0					X																	73812206		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812206C>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.944G>A	X.37:g.73812206C>T	ENSP00000328059:p.Arg315Lys					RLIM_ENST00000349225.2_Missense_Mutation_p.R315K	p.R315K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1162	-			315					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.944G>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366314	0.24771	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.12255	2.7;2.7	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.37210	0.0995	M	0.72118	2.19	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.02893	-1.1097	10	0.25751	T	0.34	-8.9918	18.882	0.92358	0.0:1.0:0.0:0.0	.	315	Q9NVW2	RNF12_HUMAN	K	315	ENSP00000328059:R315K;ENSP00000253571:R315K	ENSP00000328059:R315K	R	-	2	0	RLIM	73728931	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.485000	0.81204	2.406000	0.81754	0.600000	0.82982	AGA		0.478	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		23	38	0	0	0	1	0	23	38				
POLR1A	25885	broad.mit.edu	37	2	86292536	86292536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:86292536C>T	ENST00000263857.6	-	14	2297	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	POLR1A_ENST00000409681.1_Missense_Mutation_p.S640N|POLR1A_ENST00000483538.1_5'UTR			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	640					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)			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						AGTAGTCATGCTTGCCCCTGA	0.498																																						ENST00000263857.6																			0				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						c.(1918-1920)aGc>aAc		polymerase (RNA) I polypeptide A, 194kDa							108.0	109.0	109.0					2																	86292536		1926	4132	6058	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86292536C>T	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.1919G>A	2.37:g.86292536C>T	ENSP00000263857:p.Ser640Asn					POLR1A_ENST00000409681.1_Missense_Mutation_p.S640N|POLR1A_ENST00000483538.1_5'UTR	p.S640N			O95602	RPA1_HUMAN			14	2297	-			640					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1919G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253796	0.39896	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.76448	-1.02;-1.02	5.97	0.953	0.19590	RNA polymerase Rpb1, domain 3 (1);RNA polymerase, N-terminal (1);	0.402151	0.32952	N	0.005452	T	0.52306	0.1726	N	0.05383	-0.06	0.27381	N	0.955411	B	0.02656	0.0	B	0.04013	0.001	T	0.34477	-0.9827	10	0.12430	T	0.62	-17.0743	9.5116	0.39080	0.0:0.5902:0.0:0.4098	.	640	O95602	RPA1_HUMAN	N	640	ENSP00000263857:S640N;ENSP00000386300:S640N	ENSP00000263857:S640N	S	-	2	0	POLR1A	86146047	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.540000	0.36115	0.087000	0.17167	-0.150000	0.13652	AGC		0.498	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		11	109	0	0	0	1	0	11	109				
ARMCX6	54470	broad.mit.edu	37	X	100871220	100871220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100871220G>A	ENST00000361910.4	-	3	735	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ARMCX6_ENST00000538627.1_Missense_Mutation_p.L131F|ARMCX6_ENST00000539247.1_Missense_Mutation_p.L131F|ARMCX6_ENST00000497931.1_Intron	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	131						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TGAATGAAAAGACACTTGGAG	0.448																																						ENST00000539247.1																			0				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						c.(391-393)Ctt>Ttt		armadillo repeat containing, X-linked 6							79.0	82.0	81.0					X																	100871220		2203	4300	6503	SO:0001583	missense	54470					integral to membrane		g.chrX:100871220G>A	BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"""Armadillo repeat containing"""	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.391C>T	X.37:g.100871220G>A	ENSP00000354708:p.Leu131Phe					ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Missense_Mutation_p.L131F|ARMCX6_ENST00000361910.4_Missense_Mutation_p.L131F	p.L131F	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN			4	823	-			131					Q9NWJ3	Missense_Mutation	SNP	ENST00000361910.4	37	c.391C>T	CCDS14488.1	.	.	.	.	.	.	.	.	.	.	.	10.75	1.438414	0.25900	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.29397	1.57;1.57;1.57	4.18	3.29	0.37713	.	0.697800	0.12578	N	0.456651	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.30889	0.299	B	0.32928	0.155	T	0.19353	-1.0308	10	0.87932	D	0	-0.2085	8.7057	0.34354	0.0:0.2367:0.7633:0.0	.	131	Q7L4S7	ARMX6_HUMAN	F	131	ENSP00000354708:L131F;ENSP00000444537:L131F;ENSP00000440648:L131F	ENSP00000354708:L131F	L	-	1	0	ARMCX6	100757876	0.963000	0.33076	0.040000	0.18447	0.814000	0.46013	2.298000	0.43602	1.087000	0.41251	0.476000	0.43555	CTT		0.448	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1	NM_019007		4	156	0	0	0	1	0	4	156				
OR1E2	8388	broad.mit.edu	37	17	3336654	3336654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3336654G>A	ENST00000248384.1	-	1	481	c.482C>T	c.(481-483)aCc>aTc	p.T161I		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	161					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						ATGGAAGGTGGTCAGCACCCA	0.537																																						ENST00000248384.1																			0				endometrium(3)|large_intestine(3)|lung(3)	9						c.(481-483)aCc>aTc		olfactory receptor, family 1, subfamily E, member 2							74.0	66.0	69.0					17																	3336654		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336654G>A	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.482C>T	17.37:g.3336654G>A	ENSP00000248384:p.Thr161Ile						p.T161I	NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN			1	481	-			161					O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.482C>T	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756266	0.49362	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.37058	1.22	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.092409	0.48286	D	0.000197	T	0.37100	0.0991	L	0.43923	1.385	0.19945	N	0.999946	B	0.27380	0.177	B	0.37451	0.25	T	0.35251	-0.9796	10	0.51188	T	0.08	.	12.5612	0.56281	0.0:0.2639:0.7361:0.0	.	161	P47887	OR1E2_HUMAN	I	161;151	ENSP00000248384:T161I	ENSP00000248384:T161I	T	-	2	0	OR1E2	3283404	0.000000	0.05858	0.990000	0.47175	0.944000	0.59088	0.136000	0.15974	2.775000	0.95449	0.555000	0.69702	ACC		0.537	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			4	37	0	0	0	1	0	4	37				
BYSL	705	broad.mit.edu	37	6	41889326	41889326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:41889326G>A	ENST00000230340.4	+	1	401	c.26G>A	c.(25-27)gGg>gAg	p.G9E	MED20_ENST00000467535.1_5'Flank|MED20_ENST00000265350.4_5'Flank|MED20_ENST00000409060.1_5'Flank|MED20_ENST00000409312.1_5'Flank	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	9					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGGCCCGTGGGGTGGGGGGT	0.647											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(25-27)gGg>gAg		bystin-like							14.0	18.0	17.0					6																	41889326		2132	4246	6378	SO:0001583	missense	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41889326G>A	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.26G>A	6.37:g.41889326G>A	ENSP00000230340:p.Gly9Glu		OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904		p.G9E	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		1	401	+	Colorectal(47;0.121)		9					Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	ENST00000230340.4	37	c.26G>A	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801152	0.50315	.	.	ENSG00000112578	ENST00000230340	T	0.20598	2.06	4.87	2.91	0.33838	.	0.319906	0.32687	N	0.005768	T	0.06142	0.0159	L	0.50333	1.59	0.43029	D	0.994599	B	0.18013	0.025	B	0.24394	0.053	T	0.17531	-1.0366	10	0.02654	T	1	-22.6033	9.9208	0.41464	0.0847:0.0:0.7721:0.1432	.	9	Q13895	BYST_HUMAN	E	9	ENSP00000230340:G9E	ENSP00000230340:G9E	G	+	2	0	BYSL	41997304	0.997000	0.39634	0.873000	0.34254	0.226000	0.24999	1.052000	0.30429	1.247000	0.43917	0.655000	0.94253	GGG		0.647	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			4	42	0	0	0	1	0	4	42				
ARHGEF17	9828	broad.mit.edu	37	11	73066927	73066927	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:73066927G>A	ENST00000263674.3	+	5	3942	c.3592G>A	c.(3592-3594)Gag>Aag	p.E1198K	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1198	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGAGAACAAGGAGAAGCAGGC	0.572																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(3592-3594)Gag>Aag		Rho guanine nucleotide exchange factor (GEF) 17							168.0	158.0	161.0					11																	73066927		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73066927G>A	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.3592G>A	11.37:g.73066927G>A	ENSP00000263674:p.Glu1198Lys						p.E1198K	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			5	3942	+			1198			DH.		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.3592G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305312	0.95601	.	.	ENSG00000110237	ENST00000263674	T	0.68025	-0.3	5.42	5.42	0.78866	Dbl homology (DH) domain (5);	0.050202	0.85682	N	0.000000	T	0.76681	0.4021	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78244	-0.2279	10	0.66056	D	0.02	-23.3498	17.7937	0.88562	0.0:0.0:1.0:0.0	.	1198	Q96PE2	ARHGH_HUMAN	K	1198	ENSP00000263674:E1198K	ENSP00000263674:E1198K	E	+	1	0	ARHGEF17	72744575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.558000	0.86282	0.563000	0.77884	GAG		0.572	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		5	165	0	0	0	1	0	5	165				
ABAT	18	broad.mit.edu	37	16	8857944	8857944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:8857944C>T	ENST00000396600.2	+	7	1323	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	ABAT_ENST00000569156.1_Missense_Mutation_p.P129S|ABAT_ENST00000567812.1_Missense_Mutation_p.P144S|ABAT_ENST00000425191.2_Missense_Mutation_p.P129S|ABAT_ENST00000268251.8_Missense_Mutation_p.P129S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	129					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGTCAACAGACCCGCCCTCGG	0.552																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(385-387)Ccc>Tcc		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						106.0	91.0	96.0					16																	8857944		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8857944C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.385C>T	16.37:g.8857944C>T	ENSP00000379845:p.Pro129Ser					ABAT_ENST00000425191.2_Missense_Mutation_p.P129S|ABAT_ENST00000567812.1_Missense_Mutation_p.P144S|ABAT_ENST00000268251.8_Missense_Mutation_p.P129S|ABAT_ENST00000569156.1_Missense_Mutation_p.P129S	p.P129S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			7	1323	+			129					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.385C>T	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920198	0.73098	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.76186	-1.0;-1.0;-1.0	5.55	5.55	0.83447	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	D	0.85139	0.0979	10	0.59425	D	0.04	-10.8561	18.5414	0.91029	0.0:1.0:0.0:0.0	.	129	P80404	GABT_HUMAN	S	129	ENSP00000268251:P129S;ENSP00000379845:P129S;ENSP00000411916:P129S	ENSP00000268251:P129S	P	+	1	0	ABAT	8765445	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.876000	0.75556	2.625000	0.88918	0.456000	0.33151	CCC		0.552	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		21	59	0	0	0	1	0	21	59				
RPL27A	6157	broad.mit.edu	37	11	8707309	8707309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:8707309G>A	ENST00000314138.6	+	5	806	c.403G>A	c.(403-405)Gag>Aag	p.E135K	RPL27A_ENST00000532359.1_Missense_Mutation_p.E100K|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000530913.1_Missense_Mutation_p.E78K|RPL27A_ENST00000524496.1_Missense_Mutation_p.E78K|RPL27A_ENST00000526562.1_Missense_Mutation_p.E78K|SNORA3_ENST00000364113.1_RNA|RPL27A_ENST00000530022.1_Missense_Mutation_p.E78K	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	135					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGAGGAGAAGATTAA	0.478																																						ENST00000314138.6																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(403-405)Gag>Aag		ribosomal protein L27a							63.0	66.0	65.0					11																	8707309		2201	4296	6497	SO:0001583	missense	6157				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr11:8707309G>A	U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"""L ribosomal proteins"""	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.403G>A	11.37:g.8707309G>A	ENSP00000346015:p.Glu135Lys					RPL27A_ENST00000524496.1_Missense_Mutation_p.E78K|RPL27A_ENST00000532359.1_Missense_Mutation_p.E100K|RPL27A_ENST00000526562.1_Missense_Mutation_p.E78K|RPL27A_ENST00000530913.1_Missense_Mutation_p.E78K|RPL27A_ENST00000530022.1_Missense_Mutation_p.E78K	p.E135K	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN		Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	806	+			135					B2R4B3	Missense_Mutation	SNP	ENST00000314138.6	37	c.403G>A	CCDS7790.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260906	0.59431	.	.	ENSG00000166441	ENST00000314138;ENST00000524496;ENST00000532359;ENST00000530022;ENST00000526562;ENST00000530913	.	.	.	5.72	5.72	0.89469	Ribosomal protein L15, conserved site (1);Ribosomal protein L18e/L15P (2);	0.000000	0.85682	U	0.000000	T	0.55114	0.1900	L	0.39566	1.225	0.58432	D	0.999998	B	0.11235	0.004	B	0.19391	0.025	T	0.51655	-0.8678	9	0.09338	T	0.73	-40.7673	20.2504	0.98404	0.0:0.0:1.0:0.0	.	135	P46776	RL27A_HUMAN	K	135;78;100;78;78;78	.	ENSP00000346015:E135K	E	+	1	0	RPL27A	8663885	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.207000	0.77899	2.850000	0.98022	0.650000	0.86243	GAG		0.478	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386506.1	NM_000990		24	12	0	0	0	1	0	24	12				
RTN4	57142	broad.mit.edu	37	2	55253017	55253017	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:55253017G>A	ENST00000337526.6	-	3	2461	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	RTN4_ENST00000357376.3_Missense_Mutation_p.P534S|RTN4_ENST00000394611.2_Missense_Mutation_p.P534S|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.P534S|RTN4_ENST00000404909.1_Missense_Mutation_p.P534S|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.P508S	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	740					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCAGAATCAGGTGAGGAATCT	0.408																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2218-2220)Cct>Tct		reticulon 4							60.0	60.0	60.0					2																	55253017		2203	4299	6502	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253017G>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2218C>T	2.37:g.55253017G>A	ENSP00000337838:p.Pro740Ser					RTN4_ENST00000394611.2_Missense_Mutation_p.P534S|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.P534S|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.P534S|RTN4_ENST00000354474.6_Missense_Mutation_p.P508S|RTN4_ENST00000405240.1_Missense_Mutation_p.P534S	p.P740S	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	2461	-			740					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2218C>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565381	0.65651	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.22134	1.99;1.99;1.97;1.99;1.99;2.03	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.50017	0.1591	M	0.75264	2.295	0.46927	D	0.99925	D	0.89917	1.0	D	0.83275	0.996	T	0.49716	-0.8910	10	0.62326	D	0.03	-13.5711	19.5026	0.95103	0.0:0.0:1.0:0.0	.	740	Q9NQC3	RTN4_HUMAN	S	534;534;740;534;534;508	ENSP00000384471:P534S;ENSP00000349944:P534S;ENSP00000337838:P740S;ENSP00000378109:P534S;ENSP00000385650:P534S;ENSP00000346465:P508S	ENSP00000337838:P740S	P	-	1	0	RTN4	55106521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.097000	0.64542	2.587000	0.87381	0.655000	0.94253	CCT		0.408	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			40	72	0	0	0	1	0	40	72				
PGPEP1L	145814	broad.mit.edu	37	15	99512802	99512802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:99512802C>T	ENST00000378919.6	-	4	428	c.223G>A	c.(223-225)Gac>Aac	p.D75N	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_Missense_Mutation_p.D21N	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	75							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						ATGTCGGCGTCCCGGTAGCCT	0.632																																						ENST00000535714.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(61-63)Gac>Aac		pyroglutamyl-peptidase I-like							101.0	110.0	107.0					15																	99512802		2191	4292	6483	SO:0001583	missense	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99512802C>T		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.223G>A	15.37:g.99512802C>T	ENSP00000368199:p.Asp75Asn					PGPEP1L_ENST00000378919.6_Missense_Mutation_p.D75N|RP11-654A16.3_ENST00000559468.1_RNA	p.D21N	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN			4	866	-			75					H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	c.61G>A	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407644	0.42715	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.41400	1.0	4.37	3.44	0.39384	.	0.356073	0.27971	N	0.017118	T	0.50803	0.1637	M	0.76574	2.34	0.24893	N	0.992158	P	0.50369	0.934	P	0.50270	0.636	T	0.48801	-0.9003	10	0.17832	T	0.49	-23.9682	14.4899	0.67645	0.0:0.8527:0.1473:0.0	.	75	A6NFU8	PGPIL_HUMAN	N	75;68	ENSP00000368199:D75N	ENSP00000368199:D75N	D	-	1	0	PGPEP1L	97330325	0.429000	0.25530	0.009000	0.14445	0.083000	0.17756	2.699000	0.47077	1.035000	0.39972	0.655000	0.94253	GAC		0.632	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		20	119	0	0	0	1	0	20	119				
NPDC1	56654	broad.mit.edu	37	9	139937550	139937550	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139937550C>T	ENST00000371601.4	-	2	326				NPDC1_ENST00000488145.1_Intron|NPDC1_ENST00000371600.3_Missense_Mutation_p.A108T	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1							integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GAAGGCAGGGCCGGCTCACGG	0.726																																						ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(322-324)Gcc>Acc		neural proliferation, differentiation and control, 1							16.0	19.0	18.0					9																	139937550		2193	4290	6483	SO:0001627	intron_variant	56654					integral to membrane		g.chr9:139937550C>T	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.113-25G>A	9.37:g.139937550C>T						NPDC1_ENST00000371601.4_Intron|NPDC1_ENST00000488145.1_Intron	p.A108T			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	1	994	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	32					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Missense_Mutation	SNP	ENST00000371601.4	37	c.322G>A	CCDS7024.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355148	0.61293	.	.	ENSG00000107281	ENST00000371600	.	.	.	3.59	-0.885	0.10593	.	.	.	.	.	T	0.27967	0.0689	.	.	.	0.09310	N	1	B	0.20550	0.046	B	0.22152	0.038	T	0.24190	-1.0167	7	0.48119	T	0.1	.	4.9911	0.14214	0.0:0.5247:0.2541:0.2213	.	108	Q5SPY9	.	T	108	.	ENSP00000360659:A108T	A	-	1	0	NPDC1	139057371	0.000000	0.05858	0.000000	0.03702	0.352000	0.29268	-0.681000	0.05191	-0.296000	0.08947	0.561000	0.74099	GCC		0.726	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		9	10	0	0	0	1	0	9	10				
ANAPC1	64682	broad.mit.edu	37	2	112536284	112536284	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:112536284C>T	ENST00000341068.3	-	45	6125	c.5353G>A	c.(5353-5355)Gag>Aag	p.E1785K		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1785					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCAACATCTCTGGGGTCTCC	0.388																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(5353-5355)Gag>Aag		anaphase promoting complex subunit 1							84.0	72.0	76.0					2																	112536284		2201	4298	6499	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112536284C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5353G>A	2.37:g.112536284C>T	ENSP00000339109:p.Glu1785Lys						p.E1785K	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			45	6125	-			1785					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.5353G>A	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.512972|4.512972	0.85389|0.85389	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	0.000000|.	0.51477|.	D|.	0.000100|.	T|T	0.72350|0.72350	0.3449|0.3449	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.72625|.	0.978|.	T|T	0.73418|0.73418	-0.3989|-0.3989	9|5	0.12766|.	T|.	0.61|.	-16.2513|-16.2513	16.595|16.595	0.84794|0.84794	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1785|.	Q9H1A4|.	APC1_HUMAN|.	K|K	1785|1319	.|.	ENSP00000339109:E1785K|.	E|R	-|-	1|2	0|0	ANAPC1|ANAPC1	112252755|112252755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.242000|7.242000	0.78210|0.78210	1.945000|1.945000	0.56424|0.56424	0.555000|0.555000	0.69702|0.69702	GAG|AGA		0.388	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	44	0	0	0	1	0	4	44				
CDK5RAP2	55755	broad.mit.edu	37	9	123232424	123232424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:123232424C>T	ENST00000349780.4	-	17	2112	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.V645M|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.V645M|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.V645M	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	645					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAATGTTCCACTTGAAACCGA	0.289																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1933-1935)Gtg>Atg		CDK5 regulatory subunit associated protein 2							36.0	38.0	38.0					9																	123232424		2197	4299	6496	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123232424C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1933G>A	9.37:g.123232424C>T	ENSP00000343818:p.Val645Met					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.V645M|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.V645M|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.V645M	p.V645M	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			17	2112	-			645					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1933G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337196	0.60963	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T;T	0.21932	3.63;3.52;3.64;3.54;1.98	5.57	3.43	0.39272	.	0.444437	0.19864	N	0.104349	T	0.18173	0.0436	N	0.14661	0.345	0.23542	N	0.997453	P;P;P;P	0.51351	0.944;0.904;0.763;0.906	P;P;B;P	0.55923	0.787;0.595;0.309;0.618	T	0.04041	-1.0982	10	0.49607	T	0.09	.	3.6563	0.08222	0.2602:0.5964:0.0:0.1434	.	446;645;645;645	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	M	645;645;645;645;71;646	ENSP00000354065:V645M;ENSP00000352258:V645M;ENSP00000343818:V645M;ENSP00000353317:V645M;ENSP00000400395:V71M	ENSP00000341695:V646M	V	-	1	0	CDK5RAP2	122272245	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.526000	0.22971	1.299000	0.44798	0.655000	0.94253	GTG		0.289	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		5	24	0	0	0	1	0	5	24				
MTPAP	55149	broad.mit.edu	37	10	30638105	30638105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:30638105C>T	ENST00000263063.4	-	1	143	c.100G>A	c.(100-102)Gga>Aga	p.G34R	MTPAP_ENST00000488290.1_Intron|MTPAP_ENST00000358107.4_Intron	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	34					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GCCACAGTTCCTGGGCAACTC	0.612																																						ENST00000263063.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(100-102)Gga>Aga		mitochondrial poly(A) polymerase							97.0	85.0	89.0					10																	30638105		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30638105C>T	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.100G>A	10.37:g.30638105C>T	ENSP00000263063:p.Gly34Arg					MTPAP_ENST00000488290.1_Intron|MTPAP_ENST00000358107.4_Intron	p.G34R	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN			1	143	-			34					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.100G>A	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	.	28.4	4.913811	0.92178	.	.	ENSG00000107951	ENST00000263063	T	0.56776	0.44	4.81	3.91	0.45181	.	.	.	.	.	T	0.48804	0.1520	M	0.73598	2.24	0.47778	D	0.999514	P	0.38711	0.643	B	0.33454	0.164	T	0.56159	-0.8025	9	0.87932	D	0	.	9.2861	0.37758	0.0:0.9016:0.0:0.0984	.	34	Q9NVV4	PAPD1_HUMAN	R	34	ENSP00000263063:G34R	ENSP00000263063:G34R	G	-	1	0	MTPAP	30678111	0.391000	0.25221	0.142000	0.22268	0.854000	0.48673	1.782000	0.38654	1.383000	0.46405	0.655000	0.94253	GGA		0.612	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		25	53	0	0	0	1	0	25	53				
PGBD3	267004	broad.mit.edu	37	10	50724328	50724328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:50724328C>T	ENST00000374127.3	-	2	1034	c.833G>A	c.(832-834)gGt>gAt	p.G278D	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.G746D|PGBD3_ENST00000603152.1_Missense_Mutation_p.G746D|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Missense_Mutation_p.G278D|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.G746D	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	278										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CCCGTGACGACCAAAATAAGG	0.408																																						ENST00000515869.1																			0											c.(2236-2238)gGt>gAt									40.0	38.0	39.0					10																	50724328		2203	4300	6503	SO:0001583	missense	0							g.chr10:50724328C>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.833G>A	10.37:g.50724328C>T	ENSP00000363242:p.Gly278Asp					PGBD3_ENST00000603152.1_Missense_Mutation_p.G746D|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.G746D|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Missense_Mutation_p.G278D|PGBD3_ENST00000374127.3_Missense_Mutation_p.G278D	p.G746D	NM_001277059.1	NP_001263988.1					6	2357	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.2237G>A	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719270	0.30503	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	0.468	0.468	0.16732	.	.	.	.	.	T	0.26159	0.0638	N	0.20766	0.605	0.09310	N	1	D;D	0.76494	0.999;0.996	D;D	0.85130	0.997;0.971	T	0.16129	-1.0413	8	0.42905	T	0.14	-22.5151	.	.	.	.	746;278	E7EV46;Q8N328	.;PGBD3_HUMAN	D	278;278;746;746	ENSP00000363242:G278D;ENSP00000426963:G278D;ENSP00000423550:G746D;ENSP00000387966:G746D	ENSP00000387966:G746D	G	-	2	0	PGBD3;RP11-123B3.6	50394334	0.197000	0.23362	0.239000	0.24122	0.233000	0.25261	2.596000	0.46205	0.488000	0.27723	0.491000	0.48974	GGT		0.408	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			4	56	0	0	0	1	0	4	56				
EEPD1	80820	broad.mit.edu	37	7	36194368	36194368	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36194368C>T	ENST00000242108.4	+	2	1153	c.435C>T	c.(433-435)gcC>gcT	p.A145A	EEPD1_ENST00000534978.1_Silent_p.A145A	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	145					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCACCCCGGCCCAGCTCATGA	0.642																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(433-435)gcC>gcT		endonuclease/exonuclease/phosphatase family domain containing 1							37.0	41.0	40.0					7																	36194368		2203	4300	6503	SO:0001819	synonymous_variant	80820				DNA repair		DNA binding	g.chr7:36194368C>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.435C>T	7.37:g.36194368C>T						EEPD1_ENST00000534978.1_Silent_p.A145A	p.A145A	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	1153	+			145					Q96K64|Q9C0F7	Silent	SNP	ENST00000242108.4	37	c.435C>T	CCDS34619.1																																																																																				0.642	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		11	43	0	0	0	1	0	11	43				
TCF20	6942	broad.mit.edu	37	22	42609606	42609606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42609606G>A	ENST00000359486.3	-	1	1842	c.1706C>T	c.(1705-1707)cCc>cTc	p.P569L	TCF20_ENST00000335626.4_Missense_Mutation_p.P569L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ATTGAGTCTGGGGGGTTCATT	0.562																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1705-1707)cCc>cTc		transcription factor 20 (AR1)							56.0	51.0	53.0					22																	42609606		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609606G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1706C>T	22.37:g.42609606G>A	ENSP00000352463:p.Pro569Leu					TCF20_ENST00000335626.4_Missense_Mutation_p.P569L	p.P569L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1842	-			569					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1706C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280351	0.40294	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.58358	0.35;0.34	6.17	6.17	0.99709	.	0.188892	0.38436	N	0.001695	T	0.43033	0.1229	N	0.14661	0.345	0.80722	D	1	P;P	0.41848	0.763;0.651	B;B	0.39840	0.311;0.165	T	0.46034	-0.9220	10	0.66056	D	0.02	-9.2133	20.8794	0.99867	0.0:0.0:1.0:0.0	.	569;569	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	L	569	ENSP00000352463:P569L;ENSP00000335561:P569L	ENSP00000335561:P569L	P	-	2	0	TCF20	40939550	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.509000	0.60448	2.941000	0.99782	0.655000	0.94253	CCC		0.562	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	94	0	0	0	1	0	8	94				
DNAH3	55567	broad.mit.edu	37	16	20976401	20976401	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:20976401C>T	ENST00000261383.3	-	53	8804	c.8805G>A	c.(8803-8805)cgG>cgA	p.R2935R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2935	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGCCTGGAGCCGATCTACCA	0.527																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8803-8805)cgG>cgA		dynein, axonemal, heavy chain 3							189.0	180.0	183.0					16																	20976401		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976401C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8805G>A	16.37:g.20976401C>T						DNAH3_ENST00000415178.1_3'UTR	p.R2935R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8804	-			2935			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.8805G>A	CCDS10594.1																																																																																				0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		18	168	0	0	0	1	0	18	168				
MXRA5	25878	broad.mit.edu	37	X	3240366	3240366	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:3240366G>A	ENST00000217939.6	-	5	3514	c.3360C>T	c.(3358-3360)ctC>ctT	p.L1120L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1120						extracellular vesicular exosome (GO:0070062)				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)				CTTTGTCTAGGAGGGTACCAA	0.502																																						ENST00000217939.6																			0				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						c.(3358-3360)ctC>ctT		matrix-remodelling associated 5							104.0	82.0	89.0					X																	3240366		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3240366G>A	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.3360C>T	X.37:g.3240366G>A							p.L1120L	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3514	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1120					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.3360C>T	CCDS14124.1																																																																																				0.502	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		4	60	0	0	0	1	0	4	60				
COL4A6	1288	broad.mit.edu	37	X	107406269	107406269	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:107406269C>T	ENST00000372216.4	-	41	4173		c.e41-1		COL4A6_ENST00000334504.7_Splice_Site|COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000394872.2_Splice_Site|COL4A6_ENST00000538570.1_Splice_Site	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGAAGAGCCTGTGGGCAGG	0.557									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.e41-1		collagen, type IV, alpha 6							69.0	67.0	67.0					X																	107406269		2203	4300	6503	SO:0001630	splice_region_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107406269C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4073-1G>A	X.37:g.107406269C>T						COL4A6_ENST00000372216.4_Splice_Site|COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000334504.7_Splice_Site|COL4A6_ENST00000538570.1_Splice_Site				Q14031	CO4A6_HUMAN			41	4304	-								Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Splice_Site	SNP	ENST00000372216.4	37		CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069275	0.55539	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0555	0.80801	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A6	107292925	1.000000	0.71417	0.935000	0.37517	0.208000	0.24298	4.387000	0.59626	2.268000	0.75426	0.600000	0.82982	.		0.557	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Intron	18	97	0	0	0	1	0	18	97				
COL7A1	1294	broad.mit.edu	37	3	48626871	48626871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48626871C>T	ENST00000328333.8	-	17	2310	c.2203G>A	c.(2203-2205)Gcc>Acc	p.A735T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A735T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	735	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCACCGTGGCCTCCCCAGAA	0.632																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(2203-2205)Gcc>Acc		collagen, type VII, alpha 1							61.0	60.0	60.0					3																	48626871		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626871C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2203G>A	3.37:g.48626871C>T	ENSP00000332371:p.Ala735Thr					COL7A1_ENST00000454817.1_Missense_Mutation_p.A735T	p.A735T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	17	2310	-			735			Fibronectin type-III 6.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.2203G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881585	0.33255	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.54279	0.58;0.58	5.12	3.32	0.38043	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.519888	0.16183	N	0.225724	T	0.33702	0.0872	N	0.21194	0.64	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.16453	-1.0402	10	0.30854	T	0.27	.	5.7616	0.18203	0.0:0.6638:0.1598:0.1764	.	735	Q02388	CO7A1_HUMAN	T	735	ENSP00000332371:A735T;ENSP00000412569:A735T	ENSP00000332371:A735T	A	-	1	0	COL7A1	48601875	0.072000	0.21174	0.966000	0.40874	0.995000	0.86356	0.407000	0.21049	0.670000	0.31165	0.561000	0.74099	GCC		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	52	0	0	0	1	0	4	52				
LRP6	4040	broad.mit.edu	37	12	12334061	12334061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:12334061G>A	ENST00000261349.4	-	6	1365	c.1289C>T	c.(1288-1290)aCa>aTa	p.T430I	LRP6_ENST00000543091.1_Missense_Mutation_p.T430I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	430	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATTGAGCCTTGTCACTTCTAT	0.478																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(1288-1290)aCa>aTa		low density lipoprotein receptor-related protein 6							115.0	100.0	105.0					12																	12334061		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334061G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1289C>T	12.37:g.12334061G>A	ENSP00000261349:p.Thr430Ile					LRP6_ENST00000543091.1_Missense_Mutation_p.T430I	p.T430I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			6	1365	-		Prostate(47;0.0865)	430			Beta-propeller 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1289C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776368	0.90195	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.84298	-1.83;-1.83	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000006	D	0.86678	0.5990	N	0.17631	0.505	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.70487	0.919;0.969	D	0.84141	0.0417	10	0.22706	T	0.39	.	19.663	0.95879	0.0:0.0:1.0:0.0	.	430;430	F5H7J9;O75581	.;LRP6_HUMAN	I	430	ENSP00000261349:T430I;ENSP00000442472:T430I	ENSP00000261349:T430I	T	-	2	0	LRP6	12225328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.648000	0.89879	0.655000	0.94253	ACA		0.478	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			5	61	0	0	0	1	0	5	61				
PDCD1	5133	broad.mit.edu	37	2	242794126	242794126	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:242794126C>T	ENST00000334409.5	-	4	671	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	201					apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GCGCCTGGCTCCTATTGTCCC	0.617																																						ENST00000334409.5																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(601-603)gGa>gAa		programmed cell death 1							69.0	67.0	68.0					2																	242794126		2203	4300	6503	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794126C>T	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.602G>A	2.37:g.242794126C>T	ENSP00000335062:p.Gly201Glu						p.G201E	NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	4	671	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	201					O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.602G>A	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	C	0.159	-1.083296	0.01888	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.62941	-0.01	2.21	0.31	0.15825	.	1.461050	0.04777	N	0.429072	T	0.42988	0.1227	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.19095	-1.0316	10	0.06365	T	0.9	0.9119	4.8822	0.13685	0.0:0.666:0.0:0.334	.	201;201	Q8IX89;Q15116	.;PDCD1_HUMAN	E	201;149	ENSP00000335062:G201E	ENSP00000335062:G201E	G	-	2	0	PDCD1	242442799	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.252000	0.08806	0.042000	0.15717	-1.279000	0.01387	GGA		0.617	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		9	22	0	0	0	1	0	9	22				
MCC	4163	broad.mit.edu	37	5	112440018	112440018	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:112440018C>T	ENST00000302475.4	-	5	1055	c.492G>A	c.(490-492)agG>agA	p.R164R	MCC_ENST00000408903.3_Silent_p.R354R|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.R101R	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	164					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTGTCAGCACCCTCTGCAGTT	0.527																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(490-492)agG>agA		mutated in colorectal cancers							164.0	148.0	153.0					5																	112440018		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112440018C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.492G>A	5.37:g.112440018C>T						MCC_ENST00000408903.3_Silent_p.R354R|MCC_ENST00000515367.2_Silent_p.R101R|MCC_ENST00000514701.3_5'UTR	p.R164R	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	5	1055	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	164					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.492G>A	CCDS4111.1																																																																																				0.527	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		8	148	0	0	0	1	0	8	148				
MAP3K7	6885	broad.mit.edu	37	6	91296540	91296540	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:91296540G>A	ENST00000369329.3	-	1	224	c.63C>T	c.(61-63)gcC>gcT	p.A21A	MAP3K7_ENST00000369325.3_Silent_p.A21A|MAP3K7_ENST00000369332.3_Silent_p.A21A|MAP3K7_ENST00000369327.3_Silent_p.A21A	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	21	Interaction with MAPK8IP1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCTGGGAAGGGGCTTCGATCA	0.662																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(61-63)gcC>gcT		mitogen-activated protein kinase kinase kinase 7							47.0	45.0	46.0					6																	91296540		2203	4300	6503	SO:0001819	synonymous_variant	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91296540G>A	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.63C>T	6.37:g.91296540G>A						MAP3K7_ENST00000369325.3_Silent_p.A21A|MAP3K7_ENST00000369327.3_Silent_p.A21A|MAP3K7_ENST00000369332.3_Silent_p.A21A	p.A21A	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	1	224	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	21					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	ENST00000369329.3	37	c.63C>T	CCDS5028.1																																																																																				0.662	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		7	15	0	0	0	1	0	7	15				
PGGT1B	5229	broad.mit.edu	37	5	114573652	114573652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:114573652C>T	ENST00000419445.1	-	4	402	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	PGGT1B_ENST00000379615.3_Missense_Mutation_p.G128S	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	128					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		CATGAGAGGCCAGTGTAGGTC	0.413																																						ENST00000419445.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(382-384)Ggc>Agc		protein geranylgeranyltransferase type I, beta subunit	Pravastatin(DB00175)						70.0	74.0	72.0					5																	114573652		2202	4300	6502	SO:0001583	missense	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114573652C>T		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.382G>A	5.37:g.114573652C>T	ENSP00000404676:p.Gly128Ser					PGGT1B_ENST00000379615.3_Missense_Mutation_p.G128S	p.G128S	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	4	402	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	128					Q5MJP9	Missense_Mutation	SNP	ENST00000419445.1	37	c.382G>A	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325219	0.60743	.	.	ENSG00000164219	ENST00000419445;ENST00000379615	T;T	0.28895	1.59;1.59	5.34	5.34	0.76211	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.098297	0.64402	D	0.000001	T	0.37892	0.1020	N	0.21097	0.63	0.80722	D	1	D;B	0.61080	0.989;0.24	P;B	0.57244	0.816;0.088	T	0.05632	-1.0873	10	0.30854	T	0.27	-17.2513	19.4112	0.94673	0.0:1.0:0.0:0.0	.	128;128	P53609-2;P53609	.;PGTB1_HUMAN	S	128	ENSP00000404676:G128S;ENSP00000368935:G128S	ENSP00000368935:G128S	G	-	1	0	PGGT1B	114601551	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.720000	0.84759	2.652000	0.90054	0.563000	0.77884	GGC		0.413	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		8	84	0	0	0	1	0	8	84				
HUNK	30811	broad.mit.edu	37	21	33371239	33371239	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:33371239C>T	ENST00000270112.2	+	11	2247	c.1887C>T	c.(1885-1887)agC>agT	p.S629S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	629					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ATAAGAACAGCCCCCCAAAAG	0.592																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(1885-1887)agC>agT		hormonally up-regulated Neu-associated kinase							47.0	47.0	47.0					21																	33371239		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33371239C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1887C>T	21.37:g.33371239C>T							p.S629S	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			11	2247	+			629						Silent	SNP	ENST00000270112.2	37	c.1887C>T	CCDS13610.1																																																																																				0.592	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		18	26	0	0	0	1	0	18	26				
LPO	4025	broad.mit.edu	37	17	56344947	56344947	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:56344947G>A	ENST00000262290.4	+	12	2247	c.1931G>A	c.(1930-1932)aGg>aAg	p.R644K	LPO_ENST00000582328.1_Splice_Site_p.R561K|LPO_ENST00000543544.1_Splice_Site_p.R585K|LPO_ENST00000421678.2_Splice_Site_p.R561K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	644					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GATGGAGACAGGCAAGTGCGT	0.637																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.e12+1		lactoperoxidase							54.0	52.0	53.0					17																	56344947		2203	4300	6503	SO:0001630	splice_region_variant	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56344947G>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1931+1G>A	17.37:g.56344947G>A						LPO_ENST00000421678.2_Splice_Site_p.R561_splice|LPO_ENST00000543544.1_Splice_Site_p.R585_splice|LPO_ENST00000582328.1_Splice_Site_p.R561_splice	p.R644_splice	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			12	2247	+			644					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Splice_Site	SNP	ENST00000262290.4	37	c.1931_splice	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175742	0.94807	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.77877	-1.13;-1.13;-1.13	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.91626	0.7354	H	0.95470	3.675	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.94275	0.7514	10	0.87932	D	0	-24.0435	16.9436	0.86225	0.0:0.0:1.0:0.0	.	561;644	E7EMJ3;P22079	.;PERL_HUMAN	K	644;561;585;389	ENSP00000262290:R644K;ENSP00000400245:R561K;ENSP00000445344:R585K	ENSP00000262290:R644K	R	+	2	0	LPO	53699946	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	9.197000	0.94985	2.232000	0.73038	0.557000	0.71058	AGG		0.637	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1		Missense_Mutation	3	37	0	0	0	1	0	3	37				
CXorf58	254158	broad.mit.edu	37	X	23956665	23956665	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:23956665G>A	ENST00000379211.3	+	8	1336	c.787G>A	c.(787-789)Ggt>Agt	p.G263S		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	263										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						ATTTTCTAGGGGTCCATACTT	0.333																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.e8-1		chromosome X open reading frame 58							63.0	62.0	62.0					X																	23956665		2203	4300	6503	SO:0001630	splice_region_variant	254158							g.chrX:23956665G>A	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.786-1G>A	X.37:g.23956665G>A							p.G263_splice	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			8	1336	+			263						Splice_Site	SNP	ENST00000379211.3	37	c.785_splice	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	G	6.090	0.384833	0.11524	.	.	ENSG00000165182	ENST00000379211	T	0.27256	1.68	4.67	-7.74	0.01241	.	1.658640	0.03656	N	0.241853	T	0.06826	0.0174	N	0.02916	-0.46	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.09377	0.004;0.001	T	0.22452	-1.0216	10	0.11182	T	0.66	10.6264	0.2233	0.00171	0.2377:0.2357:0.2459:0.2807	.	263;263	B7ZLS7;Q96LI9	.;CX058_HUMAN	S	263	ENSP00000368511:G263S	ENSP00000368511:G263S	G	+	1	0	CXorf58	23866586	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.741000	0.04855	-1.794000	0.01256	-0.814000	0.03130	GGT		0.333	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761	Missense_Mutation	5	134	0	0	0	1	0	5	134				
ZBTB20	26137	broad.mit.edu	37	3	114070094	114070094	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:114070094G>A	ENST00000474710.1	-	4	1009	c.831C>T	c.(829-831)ccC>ccT	p.P277P	ZBTB20_ENST00000393785.2_Silent_p.P204P|ZBTB20_ENST00000357258.3_Silent_p.P204P|ZBTB20_ENST00000462705.1_Silent_p.P204P|ZBTB20_ENST00000464560.1_Silent_p.P204P|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.P204P|ZBTB20_ENST00000481632.1_Silent_p.P204P|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	277						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)			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)		GGTGGTCGCGGGGCAGGCCGA	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				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						c.(610-612)ccC>ccT		zinc finger and BTB domain containing 20							44.0	45.0	45.0					3																	114070094		2203	4299	6502	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070094G>A	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.831C>T	3.37:g.114070094G>A						ZBTB20_ENST00000393785.2_Silent_p.P204P|ZBTB20_ENST00000471418.1_Silent_p.P204P|ZBTB20_ENST00000357258.3_Silent_p.P204P|ZBTB20_ENST00000481632.1_Silent_p.P204P|ZBTB20_ENST00000474710.1_Silent_p.P277P|ZBTB20_ENST00000464560.1_Silent_p.P204P	p.P204P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1433	-			277					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.612C>T	CCDS54626.1																																																																																				0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		19	38	0	0	0	1	0	19	38				
CALCOCO1	57658	broad.mit.edu	37	12	54115267	54115267	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54115267C>T	ENST00000550804.1	-	6	802	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E248K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E215K|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.E248K|CALCOCO1_ENST00000547885.1_5'Flank			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	248					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)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCTCCACTTCCTTCGTCAGC	0.597																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(742-744)Gaa>Aaa		calcium binding and coiled-coil domain 1							293.0	241.0	259.0					12																	54115267		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54115267C>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.742G>A	12.37:g.54115267C>T	ENSP00000449960:p.Glu248Lys					CALCOCO1_ENST00000550804.1_Missense_Mutation_p.E248K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E215K|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E248K	p.E248K			Q9P1Z2	CACO1_HUMAN			6	790	-			248					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.742G>A	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397130	0.83120	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	T;T;T;T	0.13307	2.74;2.6;2.6;2.61	5.0	4.11	0.48088	.	0.000000	0.41938	D	0.000781	T	0.33440	0.0863	M	0.69523	2.12	0.45097	D	0.998119	D;D;D;D;D;D	0.71674	0.998;0.997;0.997;0.998;0.997;0.998	D;D;D;D;D;D	0.79108	0.953;0.989;0.921;0.991;0.992;0.953	T	0.03545	-1.1026	10	0.48119	T	0.1	-14.6015	11.1174	0.48268	0.0:0.9115:0.0:0.0885	.	241;215;248;248;215;248	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	K	215;248;186;248;248;241;125	ENSP00000397189:E215K;ENSP00000262059:E248K;ENSP00000447647:E248K;ENSP00000449960:E248K	ENSP00000262059:E248K	E	-	1	0	CALCOCO1	52401534	1.000000	0.71417	0.954000	0.39281	0.967000	0.64934	5.091000	0.64505	1.236000	0.43740	0.563000	0.77884	GAA		0.597	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		10	209	0	0	0	1	0	10	209				
NCOA4	8031	broad.mit.edu	37	10	51581353	51581353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51581353C>T	ENST00000443446.1	+	5	684	c.455C>T	c.(454-456)aCc>aTc	p.T152I	NCOA4_ENST00000344348.6_Missense_Mutation_p.T152I|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000452682.1_Missense_Mutation_p.T168I|NCOA4_ENST00000374087.4_Missense_Mutation_p.T152I|NCOA4_ENST00000438493.1_Missense_Mutation_p.T168I|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000374082.1_Missense_Mutation_p.T152I|NCOA4_ENST00000430396.2_Missense_Mutation_p.T52I	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	152					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAGACCATCACCACATTTGGG	0.438			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(502-504)aCc>aTc		nuclear receptor coactivator 4							89.0	80.0	83.0					10																	51581353		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51581353C>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.455C>T	10.37:g.51581353C>T	ENSP00000390713:p.Thr152Ile					NCOA4_ENST00000443446.1_Missense_Mutation_p.T152I|NCOA4_ENST00000438493.1_Missense_Mutation_p.T168I|NCOA4_ENST00000374087.4_Missense_Mutation_p.T152I|NCOA4_ENST00000374082.1_Missense_Mutation_p.T152I|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.T152I|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.T52I	p.T168I	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			6	755	+			152					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.503C>T	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104238	0.94245	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.48768	-0.9006	10	0.40728	T	0.16	-21.8568	18.4403	0.90664	0.0:1.0:0.0:0.0	.	52;168;168;152	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	I	168;168;52;152;152;152;152;152	ENSP00000405146:T168I;ENSP00000395465:T168I;ENSP00000393053:T52I;ENSP00000363200:T152I;ENSP00000344552:T152I;ENSP00000363195:T152I;ENSP00000390713:T152I	ENSP00000332421:T152I	T	+	2	0	NCOA4	51251359	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.775000	0.68915	2.861000	0.98227	0.655000	0.94253	ACC		0.438	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		10	105	0	0	0	1	0	10	105				
MOAP1	64112	broad.mit.edu	37	14	93652732	93652732	+	5'Flank	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:93652732G>A	ENST00000556883.1	-	0	0				TMEM251_ENST00000283534.4_Missense_Mutation_p.A38T|RP11-371E8.4_ENST00000557574.1_Missense_Mutation_p.A38T|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000415050.2_Missense_Mutation_p.A76T|RP11-371E8.4_ENST00000557048.1_Intron			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		CAACAGGCTGGCCTTGGAACA	0.483																																						ENST00000415050.2																			0											c.(226-228)Gcc>Acc		transmembrane protein 251							165.0	163.0	164.0					14																	93652732		1958	4146	6104	SO:0001631	upstream_gene_variant	26175							g.chr14:93652732G>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93652732G>A	Exception_encountered					RP11-371E8.4_ENST00000557574.1_Missense_Mutation_p.A38T|RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000283534.4_Missense_Mutation_p.A38T	p.A76T	NM_001098621.1	NP_001092091.1					2	601	+								B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.226G>A	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766512	0.90020	.	.	ENSG00000153485;ENSG00000153485;ENSG00000259066	ENST00000283534;ENST00000415050;ENST00000557574	T	0.80653	-1.4	5.86	5.86	0.93980	.	0.113928	0.64402	D	0.000014	D	0.82337	0.5015	L	0.27053	0.805	0.58432	D	0.999999	D	0.54207	0.965	P	0.55785	0.784	D	0.83977	0.0330	10	0.87932	D	0	-12.0305	20.2526	0.98410	0.0:0.0:1.0:0.0	.	70	Q8N6I4	CN109_HUMAN	T	38;76;38	ENSP00000451369:A38T	ENSP00000283534:A38T	A	+	1	0	RP11-371E8.4;C14orf109	92722485	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.083000	0.57643	2.789000	0.95967	0.558000	0.71614	GCC		0.483	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			32	45	0	0	0	1	0	32	45				
CCDC34	91057	broad.mit.edu	37	11	27384720	27384720	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:27384720C>T	ENST00000328697.6	-	1	695	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	CCDC34_ENST00000317945.6_Missense_Mutation_p.G8R	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	8										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						AAAGTAGGCCCCCAGCGCCCC	0.711																																						ENST00000317945.6																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(22-24)Ggg>Agg		coiled-coil domain containing 34							8.0	8.0	8.0					11																	27384720		2142	4231	6373	SO:0001583	missense	91057							g.chr11:27384720C>T	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.22G>A	11.37:g.27384720C>T	ENSP00000330240:p.Gly8Arg					CCDC34_ENST00000328697.6_Missense_Mutation_p.G8R	p.G8R	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN			1	61	-			8					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	c.22G>A	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	C	1.802	-0.476872	0.04414	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.27890	2.43;1.64	4.44	-1.8	0.07907	.	1.481890	0.04550	N	0.389657	T	0.13756	0.0333	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.001	T	0.16482	-1.0401	10	0.08179	T	0.78	0.1626	2.0703	0.03612	0.1306:0.2361:0.4251:0.2082	.	8;8	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	R	8	ENSP00000330240:G8R;ENSP00000321563:G8R	ENSP00000321563:G8R	G	-	1	0	CCDC34	27341296	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.226000	0.09139	-0.091000	0.12440	-0.150000	0.13652	GGG		0.711	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		3	2	0	0	0	1	0	3	2				
U2AF1L4	199746	broad.mit.edu	37	19	36233616	36233616	+	3'UTR	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36233616G>A	ENST00000412391.2	-	0	680				IGFLR1_ENST00000592889.1_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|PSENEN_ENST00000587708.2_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|IGFLR1_ENST00000587101.1_5'Flank|U2AF1L4_ENST00000292879.5_Silent_p.A164A|IGFLR1_ENST00000592537.1_5'Flank|PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000344990.3_5'Flank|U2AF1L4_ENST00000378975.3_3'UTR|AD000671.6_ENST00000589807.1_Intron|IGFLR1_ENST00000246532.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|PSENEN_ENST00000591949.1_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGGGCCAGGGCCTCAGAAG	0.622																																						ENST00000292879.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(490-492)gcC>gcT		U2 small nuclear RNA auxiliary factor 1-like 4							86.0	99.0	95.0					19																	36233616		2203	4300	6503	SO:0001624	3_prime_UTR_variant	199746				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr19:36233616G>A	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.*4C>T	19.37:g.36233616G>A						U2AF1L4_ENST00000378975.3_3'UTR|U2AF1L4_ENST00000412391.2_3'UTR|AD000671.6_ENST00000589807.1_Intron	p.A164A	NM_144987.2	NP_659424.2	Q8WU68	U2AF4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	545	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		0					A6NKI8|Q56UU3	Silent	SNP	ENST00000412391.2	37	c.492C>T																																																																																					0.622	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987		11	95	0	0	0	1	0	11	95				
LRRC7	57554	broad.mit.edu	37	1	70541816	70541816	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:70541816G>A	ENST00000035383.5	+	22	4203	c.4173G>A	c.(4171-4173)cgG>cgA	p.R1391R	LRRC7_ENST00000310961.5_Silent_p.R1349R|LRRC7_ENST00000415775.2_Silent_p.R675R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1391						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCGCAGCCGGGAGCAGCAGC	0.522																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4045-4047)cgG>cgA		leucine rich repeat containing 7							67.0	63.0	64.0					1																	70541816		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541816G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4173G>A	1.37:g.70541816G>A						LRRC7_ENST00000035383.5_Silent_p.R1391R|LRRC7_ENST00000415775.2_Silent_p.R675R	p.R1349R			Q96NW7	LRRC7_HUMAN			24	4465	+			1391					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.4047G>A	CCDS645.1																																																																																				0.522	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		7	56	0	0	0	1	0	7	56				
NRXN2	9379	broad.mit.edu	37	11	64417997	64417997	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64417997C>T	ENST00000377551.1	-	14	3243	c.3032G>A	c.(3031-3033)gGc>gAc	p.G1011D	NRXN2_ENST00000409571.1_Missense_Mutation_p.G1004D|NRXN2_ENST00000377559.3_Missense_Mutation_p.G971D|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.G1011D			Q9P2S2	NRX2A_HUMAN	neurexin 2	1011	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTGCACGTTGCCTGGGTCCCT	0.582											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3031-3033)gGc>gAc		neurexin 2							307.0	231.0	257.0					11																	64417997		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64417997C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3032G>A	11.37:g.64417997C>T	ENSP00000366774:p.Gly1011Asp		OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	NRXN2_ENST00000409571.1_Missense_Mutation_p.G1004D|NRXN2_ENST00000377551.1_Missense_Mutation_p.G1011D|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.G971D	p.G1011D	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			15	3493	-			1011			Laminin G-like 5.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3032G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652672	0.47362	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.31	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.258267	0.24169	U	0.040916	T	0.72112	0.3420	L	0.54965	1.715	0.40702	D	0.982491	P;P;P	0.43578	0.553;0.624;0.811	B;B;B	0.43838	0.373;0.326;0.433	T	0.67875	-0.5557	10	0.11485	T	0.65	.	11.7939	0.52088	0.0:0.8206:0.1794:0.0	.	971;1011;757	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	D	1011;971;1011;971;1004	ENSP00000366774:G1011D;ENSP00000366782:G971D;ENSP00000265459:G1011D;ENSP00000386416:G1004D	ENSP00000265459:G1011D	G	-	2	0	NRXN2	64174573	0.998000	0.40836	0.991000	0.47740	0.995000	0.86356	1.023000	0.30065	1.088000	0.41272	0.655000	0.94253	GGC		0.582	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		40	113	0	0	0	1	0	40	113				
LACTB	114294	broad.mit.edu	37	15	63419867	63419867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:63419867G>A	ENST00000261893.4	+	4	1003	c.931G>A	c.(931-933)Gat>Aat	p.D311N	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000413507.2_Missense_Mutation_p.D311N	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	311						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						ATTTAAAAATGATCCTTTGTT	0.299																																					Melanoma(85;443 1381 6215 27308 35583)	ENST00000413507.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						c.(931-933)Gat>Aat		lactamase, beta							28.0	33.0	31.0					15																	63419867		2177	4262	6439	SO:0001583	missense	114294					mitochondrion	hydrolase activity	g.chr15:63419867G>A	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.931G>A	15.37:g.63419867G>A	ENSP00000261893:p.Asp311Asn					LACTB_ENST00000261893.4_Missense_Mutation_p.D311N|RPS27L_ENST00000559763.1_Intron	p.D311N	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN			4	970	+			311					P83096	Missense_Mutation	SNP	ENST00000261893.4	37	c.931G>A	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831859	0.91036	.	.	ENSG00000103642	ENST00000261893;ENST00000413507	T;T	0.42131	0.98;0.98	5.86	5.86	0.93980	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.000000	0.85682	D	0.000000	T	0.62962	0.2471	M	0.70787	2.145	0.80722	D	1	D	0.62365	0.991	D	0.66084	0.941	T	0.55003	-0.8208	10	0.23891	T	0.37	-25.194	19.174	0.93594	0.0:0.0:1.0:0.0	.	311	P83111	LACTB_HUMAN	N	311	ENSP00000261893:D311N;ENSP00000392956:D311N	ENSP00000261893:D311N	D	+	1	0	LACTB	61206920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.777000	0.95525	0.591000	0.81541	GAT		0.299	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		5	31	0	0	0	1	0	5	31				
KCNMB2	10242	broad.mit.edu	37	3	178560530	178560530	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:178560530C>T	ENST00000432997.1	+	5	865	c.513C>T	c.(511-513)caC>caT	p.H171H	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.H171H|KCNMB2_ENST00000358316.3_Silent_p.H171H|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.H171H|RP11-385J1.2_ENST00000451742.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	180					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	AGTATCAACACTTCTCCTGCT	0.413																																						ENST00000432997.1																			0				NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(511-513)caC>caT		potassium large conductance calcium-activated channel, subfamily M, beta member 2							97.0	93.0	94.0					3																	178560530		2203	4300	6503	SO:0001819	synonymous_variant	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178560530C>T	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.513C>T	3.37:g.178560530C>T						RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.H171H|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.H171H|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.H171H|RP11-385J1.2_ENST00000451742.1_RNA	p.H171H	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		5	865	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		171					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	ENST00000432997.1	37	c.513C>T	CCDS3223.1																																																																																				0.413	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		10	135	0	0	0	1	0	10	135				
DCAF12L2	340578	broad.mit.edu	37	X	125299699	125299699	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:125299699C>T	ENST00000360028.2	-	1	235	c.209G>A	c.(208-210)gGc>gAc	p.G70D	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G70D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	70										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCCTCGAAGCCCTGGAGCCC	0.701																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(208-210)gGc>gAc		DDB1 and CUL4 associated factor 12-like 2							19.0	22.0	21.0					X																	125299699		2195	4264	6459	SO:0001583	missense	340578							g.chrX:125299699C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.209G>A	X.37:g.125299699C>T	ENSP00000353128:p.Gly70Asp					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G70D	p.G70D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	289	-			70					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.209G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	9.272	1.045959	0.19748	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.16897	2.31;2.31	3.28	1.44	0.22558	.	.	.	.	.	T	0.13030	0.0316	L	0.57536	1.79	0.26211	N	0.979308	B	0.13145	0.007	B	0.09377	0.004	T	0.40496	-0.9560	9	0.11485	T	0.65	.	3.3025	0.06988	0.0:0.511:0.2186:0.2704	.	70	Q5VW00	DC122_HUMAN	D	70	ENSP00000441489:G70D;ENSP00000353128:G70D	ENSP00000353128:G70D	G	-	2	0	DCAF12L2	125127380	0.010000	0.17322	0.004000	0.12327	0.020000	0.10135	-0.406000	0.07187	0.237000	0.21200	0.287000	0.19450	GGC		0.701	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		19	28	0	0	0	1	0	19	28				
PRDM4	11108	broad.mit.edu	37	12	108137008	108137008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:108137008C>T	ENST00000228437.5	-	8	1906	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	483	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CAATTACATTCATTTTCATCA	0.368																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(1447-1449)Gaa>Aaa		PR domain containing 4							163.0	144.0	151.0					12																	108137008		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108137008C>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1447G>A	12.37:g.108137008C>T	ENSP00000228437:p.Glu483Lys					RP11-864J10.4_ENST00000546714.1_RNA	p.E483K	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			8	1906	-			483			SET.		Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.1447G>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494377	0.85069	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	T;T	0.41065	1.01;1.55	6.16	6.16	0.99307	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	N	0.12569	0.235	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	T	0.36504	-0.9745	10	0.19147	T	0.46	-2.4627	20.8598	0.99761	0.0:1.0:0.0:0.0	.	483	Q9UKN5	PRDM4_HUMAN	K	483;235	ENSP00000228437:E483K;ENSP00000449295:E235K	ENSP00000228437:E483K	E	-	1	0	PRDM4	106661138	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.721000	0.68477	2.937000	0.99478	0.650000	0.86243	GAA		0.368	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		7	55	0	0	0	1	0	7	55				
RPAP1	26015	broad.mit.edu	37	15	41815537	41815537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41815537C>T	ENST00000304330.4	-	18	2568	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	RPAP1_ENST00000561603.1_Missense_Mutation_p.E818K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	818						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCCAATCCTCCGGGCATGAG	0.592																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(2452-2454)Gag>Aag		RNA polymerase II associated protein 1							36.0	37.0	37.0					15																	41815537		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41815537C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2452G>A	15.37:g.41815537C>T	ENSP00000306123:p.Glu818Lys					RPAP1_ENST00000561603.1_Missense_Mutation_p.E818K	p.E818K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	18	2568	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	818					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.2452G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831897	0.32421	.	.	ENSG00000103932	ENST00000304330	T	0.67523	-0.27	5.7	4.78	0.61160	.	0.459837	0.23594	N	0.046513	T	0.57873	0.2083	L	0.44542	1.39	0.09310	N	1	B	0.25007	0.116	B	0.22880	0.042	T	0.56661	-0.7942	10	0.87932	D	0	-23.354	11.4703	0.50264	0.0:0.9181:0.0:0.0819	.	818	Q9BWH6	RPAP1_HUMAN	K	818	ENSP00000306123:E818K	ENSP00000306123:E818K	E	-	1	0	RPAP1	39602829	0.018000	0.18449	0.225000	0.23894	0.406000	0.30931	1.922000	0.40045	2.679000	0.91253	0.655000	0.94253	GAG		0.592	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		14	26	0	0	0	1	0	14	26				
SERBP1	26135	broad.mit.edu	37	1	67885785	67885785	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:67885785C>T	ENST00000370995.2	-	6	988	c.903G>A	c.(901-903)cgG>cgA	p.R301R	SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000370994.4_Silent_p.R280R|SERBP1_ENST00000361219.6_Silent_p.R286R|SERBP1_ENST00000370990.5_Silent_p.R295R|RNU6-387P_ENST00000411331.1_RNA			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	301					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)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTACTTTTGCCCGGTCCTTAT	0.393																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(838-840)cgG>cgA		SERPINE1 mRNA binding protein 1							109.0	111.0	110.0					1																	67885785		2203	4300	6503	SO:0001819	synonymous_variant	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67885785C>T	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.903G>A	1.37:g.67885785C>T						SERBP1_ENST00000370995.2_Silent_p.R301R|SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000370990.5_Silent_p.R295R|SERBP1_ENST00000361219.6_Silent_p.R286R	p.R280R	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			6	954	-			301					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Silent	SNP	ENST00000370995.2	37	c.840G>A	CCDS30746.1																																																																																				0.393	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		19	104	0	0	0	1	0	19	104				
MKI67	4288	broad.mit.edu	37	10	129901977	129901977	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:129901977G>A	ENST00000368654.3	-	13	8502	c.8127C>T	c.(8125-8127)ccC>ccT	p.P2709P	MKI67_ENST00000368653.3_Silent_p.P2349P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2709	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)			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)				CTTCTAGTGGGGGAGATTCGC	0.502																																						ENST00000368654.3																			0				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						c.(8125-8127)ccC>ccT		marker of proliferation Ki-67							120.0	122.0	122.0					10																	129901977		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901977G>A	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.8127C>T	10.37:g.129901977G>A						MKI67_ENST00000368653.3_Silent_p.P2349P	p.P2709P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	8502	-		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)	2709			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.8127C>T	CCDS7659.1																																																																																				0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		12	76	0	0	0	1	0	12	76				
ICAM1	3383	broad.mit.edu	37	19	10381898	10381898	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10381898C>T	ENST00000264832.3	+	1	388	c.63C>T	c.(61-63)ttC>ttT	p.F21F	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.F21F	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	21					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GGGCTCTGTTCCCAGGTGAGT	0.662																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(61-63)ttC>ttT		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						15.0	19.0	18.0					19																	10381898		2202	4297	6499	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10381898C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.63C>T	19.37:g.10381898C>T						CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.F21F	p.F21F	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		1	388	+			21					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.63C>T	CCDS12231.1																																																																																				0.662	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			4	15	0	0	0	1	0	4	15				
SYCP2L	221711	broad.mit.edu	37	6	10956387	10956387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:10956387C>T	ENST00000283141.6	+	25	2371	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	692						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCCACTTCATCCCTAGAAGTT	0.383																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2074-2076)tCc>tTc		synaptonemal complex protein 2-like							69.0	64.0	65.0					6																	10956387		1885	4117	6002	SO:0001583	missense	221711					nucleus		g.chr6:10956387C>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2075C>T	6.37:g.10956387C>T	ENSP00000283141:p.Ser692Phe						p.S692F	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		25	2371	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	692					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.2075C>T	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548072	0.27652	.	.	ENSG00000153157	ENST00000283141	T	0.17691	2.26	5.64	3.82	0.43975	.	0.749007	0.12817	N	0.436768	T	0.10809	0.0264	M	0.63428	1.95	0.09310	N	0.999995	P	0.51147	0.942	P	0.46718	0.525	T	0.15954	-1.0419	10	0.62326	D	0.03	-0.0633	6.2509	0.20845	0.1852:0.7234:0.0:0.0914	.	692	Q5T4T6	SYC2L_HUMAN	F	692	ENSP00000283141:S692F	ENSP00000283141:S692F	S	+	2	0	SYCP2L	11064373	0.000000	0.05858	0.007000	0.13788	0.514000	0.34195	0.648000	0.24828	1.338000	0.45544	0.655000	0.94253	TCC		0.383	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		11	46	0	0	0	1	0	11	46				
MBIP	51562	broad.mit.edu	37	14	36783738	36783738	+	Missense_Mutation	SNP	T	T	C	rs149685675	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:36783738T>C	ENST00000416007.4	-	4	638	c.551A>G	c.(550-552)aAt>aGt	p.N184S	MBIP_ENST00000359527.7_Missense_Mutation_p.N184S|MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Missense_Mutation_p.N184S	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	184	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ATCAATAACATTGCAAAATTC	0.279																																						ENST00000416007.4																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(550-552)aAt>aGt		MAP3K12 binding inhibitory protein 1		T	SER/ASN,SER/ASN	0,4402		0,0,2201	53.0	53.0	53.0		551,551	6.1	1.0	14	dbSNP_134	53	9,8587	7.1+/-27.0	0,9,4289	yes	missense,missense	MBIP	NM_001144891.1,NM_016586.2	46,46	0,9,6490	CC,CT,TT		0.1047,0.0,0.0692	possibly-damaging,possibly-damaging	184/344,184/345	36783738	9,12989	2201	4298	6499	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36783738T>C	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.551A>G	14.37:g.36783738T>C	ENSP00000399718:p.Asn184Ser					MBIP_ENST00000318473.7_Missense_Mutation_p.N184S|MBIP_ENST00000359527.7_Missense_Mutation_p.N184S	p.N184S	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	4	638	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		184			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.551A>G	CCDS9658.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344695	0.41498	0.0	0.001047	ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298;ENST00000553549	T;T;T	0.38887	1.11;1.11;1.11	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	L	0.43152	1.355	0.58432	D	0.999998	P;D;B;B	0.89917	0.874;1.0;0.42;0.291	P;D;B;B	0.83275	0.542;0.996;0.215;0.204	T	0.55885	-0.8070	10	0.45353	T	0.12	-12.0424	16.6438	0.85155	0.0:0.0:0.0:1.0	.	158;184;184;184	B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73	.;.;.;MBIP1_HUMAN	S	184;184;184;191;144;163	ENSP00000399718:N184S;ENSP00000324444:N184S;ENSP00000352517:N184S	ENSP00000324444:N184S	N	-	2	0	MBIP	35853489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.414000	0.80117	2.333000	0.79357	0.533000	0.62120	AAT		0.279	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		11	17	0	0	0	1	0	11	17				
SMCO1	255798	broad.mit.edu	37	3	196236422	196236422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:196236422C>T	ENST00000397537.2	-	2	325	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	57						integral component of membrane (GO:0016021)											CACATCTCATCTTGGGCTGCT	0.448																																						ENST00000397537.2																			0											c.(169-171)Gat>Aat		single-pass membrane protein with coiled-coil domains 1							149.0	137.0	141.0					3																	196236422		1966	4152	6118	SO:0001583	missense	255798							g.chr3:196236422C>T	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.169G>A	3.37:g.196236422C>T	ENSP00000380671:p.Asp57Asn						p.D57N	NM_001077657.1	NP_001071125.1					2	325	-								B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	c.169G>A	CCDS43192.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707710	0.68615	.	.	ENSG00000214097	ENST00000397537	T	0.42900	0.96	5.48	5.48	0.80851	.	.	.	.	.	T	0.47173	0.1431	L	0.29908	0.895	0.33629	D	0.605832	D;D	0.55800	0.973;0.973	P;P	0.56612	0.802;0.802	T	0.51537	-0.8693	9	0.25751	T	0.34	-6.3057	17.1601	0.86802	0.0:1.0:0.0:0.0	.	57;49	Q147U7;E9PGG7	CC043_HUMAN;.	N	57	ENSP00000380671:D57N	ENSP00000380671:D57N	D	-	1	0	C3orf43	197720819	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.228000	0.58619	2.572000	0.86782	0.655000	0.94253	GAT		0.448	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		15	26	0	0	0	1	0	15	26				
TBATA	219793	broad.mit.edu	37	10	72531153	72531153	+	Silent	SNP	C	C	T	rs141267448		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:72531153C>T	ENST00000299290.1	-	11	1424	c.1035G>A	c.(1033-1035)tcG>tcA	p.S345S	TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	345					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CCCTCGGCTTCGATGTCTTCT	0.562																																						ENST00000299290.1																			0											c.(1033-1035)tcG>tcA		thymus, brain and testes associated							188.0	177.0	181.0					10																	72531153		2203	4300	6503	SO:0001819	synonymous_variant	219793							g.chr10:72531153C>T	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.1035G>A	10.37:g.72531153C>T						TBATA_ENST00000394982.2_5'UTR	p.S345S	NM_152710.2	NP_689923.2					11	1424	-								A4QPA8|B2RPQ2|Q5T4G2	Silent	SNP	ENST00000299290.1	37	c.1035G>A	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	c	7.654	0.683602	0.14907	.	.	ENSG00000166220	ENST00000394982	.	.	.	4.41	-8.83	0.00806	.	.	.	.	.	T	0.28433	0.0703	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.41197	-0.9522	5	0.87932	D	0	-0.3328	2.0267	0.03520	0.286:0.1882:0.3938:0.132	.	.	.	.	K	66	.	ENSP00000378433:E66K	E	-	1	0	C10orf27	72201159	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.189000	0.03061	-2.189000	0.00758	-2.280000	0.00272	GAA		0.562	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		8	124	0	0	0	1	0	8	124				
NFKB2	4791	broad.mit.edu	37	10	104160748	104160748	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104160748C>T	ENST00000369966.3	+	18	2263	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	NFKB2_ENST00000428099.1_Silent_p.P671P|NFKB2_ENST00000189444.6_Silent_p.P671P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	671			Missing (in truncated form EB308).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GAAACACACCCCTGCACCTGG	0.657			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(2011-2013)ccC>ccT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							35.0	43.0	40.0					10																	104160748		2087	4215	6302	SO:0001819	synonymous_variant	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104160748C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2013C>T	10.37:g.104160748C>T						NFKB2_ENST00000189444.6_Silent_p.P671P|NFKB2_ENST00000428099.1_Silent_p.P671P	p.P671P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	18	2263	+		Colorectal(252;0.00957)	671		Missing (in truncated form EB308).|Missing (in truncated form p80HT).			A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	c.2013C>T	CCDS41564.1																																																																																				0.657	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			3	24	0	0	0	1	0	3	24				
TM7SF3	51768	broad.mit.edu	37	12	27127138	27127138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:27127138C>T	ENST00000343028.4	-	12	1698	c.1473G>A	c.(1471-1473)tgG>tgA	p.W491*	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	491						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CCAGCATGCCCCATACTGCCA	0.403																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1471-1473)tgG>tgA		transmembrane 7 superfamily member 3							72.0	67.0	69.0					12																	27127138		2203	4300	6503	SO:0001587	stop_gained	51768					integral to membrane|plasma membrane		g.chr12:27127138C>T	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1473G>A	12.37:g.27127138C>T	ENSP00000342322:p.Trp491*					RP11-421F16.3_ENST00000500632.1_RNA	p.W491*	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			12	1698	-	Colorectal(261;0.0847)		491					B3KMZ3|Q9NUS4	Nonsense_Mutation	SNP	ENST00000343028.4	37	c.1473G>A	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867009	0.91511	.	.	ENSG00000064115	ENST00000343028;ENST00000545344	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4864	19.9662	0.97271	0.0:1.0:0.0:0.0	.	.	.	.	X	491;205	.	ENSP00000342322:W491X	W	-	3	0	TM7SF3	27018405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.432000	0.80349	2.793000	0.96121	0.655000	0.94253	TGG		0.403	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		5	65	0	0	0	1	0	5	65				
PDE1A	5136	broad.mit.edu	37	2	183099191	183099191	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:183099191C>T	ENST00000410103.1	-	5	516	c.433G>A	c.(433-435)Gca>Aca	p.A145T	PDE1A_ENST00000456212.1_Missense_Mutation_p.A145T|PDE1A_ENST00000351439.5_Missense_Mutation_p.A129T|PDE1A_ENST00000409365.1_Missense_Mutation_p.A129T|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000331935.6_Missense_Mutation_p.A145T|PDE1A_ENST00000346717.4_Missense_Mutation_p.A111T|PDE1A_ENST00000358139.2_Missense_Mutation_p.A145T|PDE1A_ENST00000536095.1_Missense_Mutation_p.A41T|PDE1A_ENST00000435564.1_Missense_Mutation_p.A145T	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	145					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCTGGATATGCCAAACCAACC	0.259																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(433-435)Gca>Aca		phosphodiesterase 1A, calmodulin-dependent							79.0	78.0	79.0					2																	183099191		2203	4297	6500	SO:0001583	missense	0				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183099191C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.433G>A	2.37:g.183099191C>T	ENSP00000387037:p.Ala145Thr					PDE1A_ENST00000346717.4_Missense_Mutation_p.A111T|PDE1A_ENST00000536095.1_Missense_Mutation_p.A41T|PDE1A_ENST00000409365.1_Missense_Mutation_p.A129T|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.A129T|PDE1A_ENST00000358139.2_Missense_Mutation_p.A145T|PDE1A_ENST00000331935.6_Missense_Mutation_p.A145T|PDE1A_ENST00000456212.1_Missense_Mutation_p.A145T|PDE1A_ENST00000410103.1_Missense_Mutation_p.A145T	p.A145T	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		4	633	-			145					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.433G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401445	0.25291	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.69926	-0.43;-0.44;-0.43;-0.42;-0.43;-0.44;-0.44;-0.44;-0.44	5.15	-3.87	0.04218	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.940554	0.08990	N	0.864533	T	0.35364	0.0929	N	0.05230	-0.09	0.23371	N	0.997813	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.002;0.0;0.001;0.001	T	0.28713	-1.0035	10	0.09338	T	0.73	.	6.7592	0.23530	0.1337:0.3499:0.0:0.5164	.	41;111;145;129;145	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	T	145;111;41;129;145;129;145;145;145	ENSP00000410309:A145T;ENSP00000329112:A111T;ENSP00000439938:A41T;ENSP00000386767:A129T;ENSP00000331574:A145T;ENSP00000309269:A129T;ENSP00000387037:A145T;ENSP00000350858:A145T;ENSP00000408874:A145T	ENSP00000331574:A145T	A	-	1	0	PDE1A	182807436	0.006000	0.16342	0.940000	0.37924	0.856000	0.48823	-0.102000	0.10956	-0.719000	0.04942	-0.145000	0.13849	GCA		0.259	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			7	130	0	0	0	1	0	7	130				
SGK2	10110	broad.mit.edu	37	20	42204971	42204971	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:42204971C>T	ENST00000341458.4	+	10	1200	c.981C>T	c.(979-981)agC>agT	p.S327S	SGK2_ENST00000373092.3_Silent_p.S267S|SGK2_ENST00000373100.1_Silent_p.S267S|SGK2_ENST00000426287.1_Silent_p.S293S|SGK2_ENST00000373077.1_Silent_p.S266S|SGK2_ENST00000423407.3_Silent_p.S267S	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	327	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)			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)			TCCTGCAAAGCCTTCTCCACA	0.597																																						ENST00000373100.1																			0				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						c.(799-801)agC>agT		serum/glucocorticoid regulated kinase 2							55.0	58.0	57.0					20																	42204971		2203	4300	6503	SO:0001819	synonymous_variant	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42204971C>T	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.981C>T	20.37:g.42204971C>T						SGK2_ENST00000341458.4_Silent_p.S327S|SGK2_ENST00000426287.1_Silent_p.S293S|SGK2_ENST00000373092.3_Silent_p.S267S|SGK2_ENST00000373077.1_Silent_p.S266S|SGK2_ENST00000423407.3_Silent_p.S267S	p.S267S			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		12	1261	+		Myeloproliferative disorder(115;0.00452)	327			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Silent	SNP	ENST00000341458.4	37	c.801C>T	CCDS13320.1																																																																																				0.597	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			4	57	0	0	0	1	0	4	57				
USP44	84101	broad.mit.edu	37	12	95927909	95927909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:95927909G>A	ENST00000258499.3	-	2	412	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	USP44_ENST00000393091.2_Missense_Mutation_p.L42F|USP44_ENST00000552440.1_Missense_Mutation_p.L42F|USP44_ENST00000537435.2_Missense_Mutation_p.L42F	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	42					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GAGCAGCTAAGGCAAGCCCAA	0.498											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(124-126)Ctt>Ttt		ubiquitin specific peptidase 44							158.0	130.0	139.0					12																	95927909		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95927909G>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.124C>T	12.37:g.95927909G>A	ENSP00000258499:p.Leu42Phe		OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1316	USP44_ENST00000552440.1_Missense_Mutation_p.L42F|USP44_ENST00000393091.2_Missense_Mutation_p.L42F|USP44_ENST00000537435.2_Missense_Mutation_p.L42F	p.L42F	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			2	412	-			42					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.124C>T	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734396	0.69189	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435;ENST00000551837;ENST00000549639	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	5.27	5.27	0.74061	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90043	0.4143	10	0.87932	D	0	.	19.2436	0.93893	0.0:0.0:1.0:0.0	.	42	Q9H0E7	UBP44_HUMAN	F	42	ENSP00000258499:L42F;ENSP00000376806:L42F;ENSP00000448670:L42F;ENSP00000442629:L42F;ENSP00000448601:L42F;ENSP00000449635:L42F	ENSP00000258499:L42F	L	-	1	0	USP44	94452040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.623000	0.88846	0.561000	0.74099	CTT		0.498	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		29	47	0	0	0	1	0	29	47				
VCP	7415	broad.mit.edu	37	9	35062285	35062285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:35062285C>T	ENST00000358901.6	-	8	1769	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	292					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTCTCAGCCTCCTCAAAGGCT	0.463																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(874-876)Gag>Aag		valosin containing protein							119.0	112.0	114.0					9																	35062285		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35062285C>T	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.874G>A	9.37:g.35062285C>T	ENSP00000351777:p.Glu292Lys						p.E292K	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	1769	-			292					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.874G>A	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226148	0.79576	.	.	ENSG00000165280	ENST00000358901	D	0.92752	-3.1	6.17	5.26	0.73747	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	L	0.33792	1.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94661	0.7848	10	0.66056	D	0.02	-30.0808	17.419	0.87510	0.0:0.8754:0.1245:0.0	.	292	P55072	TERA_HUMAN	K	292	ENSP00000351777:E292K	ENSP00000351777:E292K	E	-	1	0	VCP	35052285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	1.585000	0.49928	0.655000	0.94253	GAG		0.463	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		5	82	0	0	0	1	0	5	82				
NRXN2	9379	broad.mit.edu	37	11	64453229	64453229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64453229C>T	ENST00000377551.1	-	5	1252	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*	NRXN2_ENST00000409571.1_Nonsense_Mutation_p.W347*|NRXN2_ENST00000377559.3_Nonsense_Mutation_p.W323*|NRXN2_ENST00000265459.6_Nonsense_Mutation_p.W347*			Q9P2S2	NRX2A_HUMAN	neurexin 2	347	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGATGACCAGCCAGACAGCCC	0.607																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(1039-1041)tgG>tgA		neurexin 2							220.0	195.0	203.0					11																	64453229		2201	4297	6498	SO:0001587	stop_gained	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64453229C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1041G>A	11.37:g.64453229C>T	ENSP00000366774:p.Trp347*					NRXN2_ENST00000409571.1_Nonsense_Mutation_p.W347*|NRXN2_ENST00000377551.1_Nonsense_Mutation_p.W347*|NRXN2_ENST00000377559.3_Nonsense_Mutation_p.W323*	p.W347*	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			6	1502	-			347			Laminin G-like 2.		A7E2C1|Q9Y2D6	Nonsense_Mutation	SNP	ENST00000377551.1	37	c.1041G>A	CCDS8077.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.596603|6.596603|6.596603	0.97692|0.97692|0.97692	.|.|.	.|.|.	ENSG00000110076|ENSG00000110076|ENSG00000110076	ENST00000437746|ENST00000417749|ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300	.|.|.	.|.|.	.|.|.	4.0|4.0|4.0	4.0|4.0|4.0	0.46444|0.46444|0.46444	.|.|.	.|.|0.000000	.|.|0.45606	.|.|U	.|.|0.000342	T|T|.	0.62684|0.62684|.	0.2448|0.2448|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.70008|0.70008|.	-0.4990|-0.4990|.	3|3|.	.|.|0.34782	.|.|T	.|.|0.22	.|.|.	13.9838|13.9838|13.9838	0.64321|0.64321|0.64321	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	T|D|X	137|108|347;323;347;323;347;118	.|.|.	.|.|ENSP00000265459:W347X	A|G|W	-|-|-	1|2|3	0|0|0	NRXN2|NRXN2|NRXN2	64209805|64209805|64209805	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	0.643000|0.643000|0.643000	0.24750|0.24750|0.24750	1.951000|1.951000|1.951000	0.56629|0.56629|0.56629	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	GCT|GGC|TGG		0.607	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		7	124	0	0	0	1	0	7	124				
ITPR3	3710	broad.mit.edu	37	6	33634998	33634998	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33634998C>T	ENST00000374316.5	+	16	2704	c.1644C>T	c.(1642-1644)ccC>ccT	p.P548P	ITPR3_ENST00000605930.1_Silent_p.P548P			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	548					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)			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)	AGAACGCCCCCTACCAGCACA	0.647																																						ENST00000374316.5																			0				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						c.(1642-1644)ccC>ccT		inositol 1,4,5-trisphosphate receptor, type 3							76.0	66.0	70.0					6																	33634998		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33634998C>T	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.1644C>T	6.37:g.33634998C>T						ITPR3_ENST00000605930.1_Silent_p.P548P	p.P548P			Q14573	ITPR3_HUMAN			16	2704	+			548					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.1644C>T	CCDS4783.1																																																																																				0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		14	34	0	0	0	1	0	14	34				
LRP2	4036	broad.mit.edu	37	2	170013881	170013881	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:170013881C>T	ENST00000263816.3	-	64	12304	c.12019G>A	c.(12019-12021)Gat>Aat	p.D4007N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4007	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TATACTCTACCTAGACAGGAG	0.368																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.e64+1		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						99.0	95.0	96.0					2																	170013881		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170013881C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12019+1G>A	2.37:g.170013881C>T							p.D4007_splice	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	64	12304	-			4007			EGF-like 15; calcium-binding (Potential).		O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37	c.12019_splice	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615372	0.66672	.	.	ENSG00000081479	ENST00000263816	D	0.83335	-1.71	5.88	5.88	0.94601	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92120	0.7502	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91568	0.5269	9	.	.	.	.	19.823	0.96605	0.0:1.0:0.0:0.0	.	4007	P98164	LRP2_HUMAN	N	4007	ENSP00000263816:D4007N	.	D	-	1	0	LRP2	169722127	1.000000	0.71417	0.966000	0.40874	0.094000	0.18550	6.806000	0.75195	2.778000	0.95560	0.655000	0.94253	GAT		0.368	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Missense_Mutation	13	18	0	0	0	1	0	13	18				
CPT2	1376	broad.mit.edu	37	1	53676338	53676338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:53676338C>T	ENST00000371486.3	+	4	1507	c.992C>T	c.(991-993)cCc>cTc	p.P331L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	331					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GATGACTTCCCCATTAAGGAC	0.507																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(991-993)cCc>cTc		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						85.0	80.0	82.0					1																	53676338		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676338C>T	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.992C>T	1.37:g.53676338C>T	ENSP00000360541:p.Pro331Leu					RP5-1024G6.2_ENST00000452466.1_RNA	p.P331L	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1507	+			331					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.992C>T	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264107	0.23136	.	.	ENSG00000157184	ENST00000371486	D	0.89415	-2.51	5.51	5.51	0.81932	.	0.365080	0.35525	N	0.003160	D	0.84620	0.5512	L	0.31752	0.955	0.52501	D	0.999958	B	0.15930	0.015	B	0.15052	0.012	T	0.78765	-0.2076	10	0.39692	T	0.17	-14.3124	19.4394	0.94811	0.0:1.0:0.0:0.0	.	331	P23786	CPT2_HUMAN	L	331	ENSP00000360541:P331L	ENSP00000360541:P331L	P	+	2	0	CPT2	53448926	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.105000	0.41825	2.581000	0.87130	0.655000	0.94253	CCC		0.507	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		27	47	0	0	0	1	0	27	47				
FOXG1	2290	broad.mit.edu	37	14	29237358	29237358	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:29237358C>T	ENST00000313071.4	+	1	1072	c.873C>T	c.(871-873)cgC>cgT	p.R291R	FOXG1_ENST00000382535.3_Silent_p.R291R|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	291				FKRGAR -> AFRWCA (in Ref. 1; CAA52241). {ECO:0000305}.|R -> A (in Ref. 1; CAA52239/CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCGGTGCGCGCCTCACCTCCA	0.711																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(871-873)cgC>cgT		forkhead box G1							36.0	44.0	41.0					14																	29237358		2202	4299	6501	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237358C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.873C>T	14.37:g.29237358C>T						FOXG1_ENST00000313071.4_Silent_p.R291R	p.R291R			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1242	+			291	FKRGAR -> AFRWCA (in Ref. 1; CAA52241).|R -> A (in Ref. 1; CAA52239/CAA52240 and 2; CAA55038).				A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.873C>T	CCDS9636.1																																																																																				0.711	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			6	64	0	0	0	1	0	6	64				
SKAP1	8631	broad.mit.edu	37	17	46423311	46423311	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:46423311G>A	ENST00000336915.6	-	4	305	c.236C>T	c.(235-237)tCc>tTc	p.S79F	SKAP1_ENST00000584924.1_Missense_Mutation_p.S79F	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	79					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGATGTGAGGGACAGGCCAAG	0.463																																						ENST00000336915.6																			0				large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						c.(235-237)tCc>tTc		src kinase associated phosphoprotein 1							87.0	74.0	78.0					17																	46423311		2203	4300	6503	SO:0001583	missense	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46423311G>A	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.236C>T	17.37:g.46423311G>A	ENSP00000338171:p.Ser79Phe					SKAP1_ENST00000584924.1_Missense_Mutation_p.S79F	p.S79F	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN			4	305	-			79					D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	c.236C>T	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	G	9.389	1.075064	0.20227	.	.	ENSG00000141293	ENST00000336915	T	0.35236	1.32	5.79	0.166	0.14999	.	0.824360	0.10836	N	0.628784	T	0.24812	0.0602	L	0.32530	0.975	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.25813	-1.0121	10	0.59425	D	0.04	-38.7204	6.2938	0.21075	0.2188:0.2477:0.5334:0.0	.	79;79	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	F	79	ENSP00000338171:S79F	ENSP00000338171:S79F	S	-	2	0	SKAP1	43778310	0.000000	0.05858	0.000000	0.03702	0.804000	0.45430	0.760000	0.26475	0.381000	0.24851	0.655000	0.94253	TCC		0.463	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		14	34	0	0	0	1	0	14	34				
TUBB6	84617	broad.mit.edu	37	18	12325128	12325128	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:12325128G>A	ENST00000317702.5	+	4	574	c.340G>A	c.(340-342)Gac>Aac	p.D114N	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	114					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GGAGCTGGTGGACGCAGTGCT	0.647																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(340-342)Gac>Aac		tubulin, beta 6 class V							108.0	94.0	99.0					18																	12325128		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325128G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.340G>A	18.37:g.12325128G>A	ENSP00000318697:p.Asp114Asn					TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron	p.D114N			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	574	+			114					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.340G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746262	0.69418	.	.	ENSG00000176014	ENST00000317702;ENST00000417736	T	0.70749	-0.51	5.08	5.08	0.68730	Tubulin/FtsZ, GTPase domain (4);	0.044283	0.85682	D	0.000000	D	0.87557	0.6207	H	0.95712	3.71	0.80722	D	1	P	0.52692	0.955	P	0.57324	0.818	D	0.91373	0.5121	10	0.87932	D	0	.	18.8254	0.92115	0.0:0.0:1.0:0.0	.	114	Q9BUF5	TBB6_HUMAN	N	114;42	ENSP00000318697:D114N	ENSP00000318697:D114N	D	+	1	0	TUBB6	12315128	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.675000	0.98638	2.528000	0.85240	0.491000	0.48974	GAC		0.647	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		10	116	0	0	0	1	0	10	116				
SLC15A4	121260	broad.mit.edu	37	12	129299553	129299553	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:129299553G>A	ENST00000266771.5	-	2	648	c.609C>T	c.(607-609)aaC>aaT	p.N203N	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	203					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TCGCTCCCAGGTTAATGCTCC	0.448																																						ENST00000266771.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(607-609)aaC>aaT		solute carrier family 15 (oligopeptide transporter), member 4							193.0	193.0	193.0					12																	129299553		2203	4300	6503	SO:0001819	synonymous_variant	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129299553G>A	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.609C>T	12.37:g.129299553G>A						SLC15A4_ENST00000539703.1_5'UTR	p.N203N	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	2	648	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		203					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Silent	SNP	ENST00000266771.5	37	c.609C>T	CCDS9264.1																																																																																				0.448	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		53	206	0	0	0	1	0	53	206				
SMARCA1	6594	broad.mit.edu	37	X	128650359	128650359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:128650359C>T	ENST00000371122.4	-	3	506	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SMARCA1_ENST00000371121.3_Missense_Mutation_p.G126E|SMARCA1_ENST00000371123.1_Missense_Mutation_p.G126E|SMARCA1_ENST00000478420.1_Intron	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	126					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCGGGGACGTCCCAATTTCAT	0.398																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(376-378)gGa>gAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							157.0	154.0	155.0					X																	128650359		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128650359C>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.377G>A	X.37:g.128650359C>T	ENSP00000360163:p.Gly126Glu					SMARCA1_ENST00000478420.1_Intron|SMARCA1_ENST00000371121.3_Missense_Mutation_p.G126E|SMARCA1_ENST00000371123.1_Missense_Mutation_p.G126E	p.G126E	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			3	506	-			126					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.377G>A	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728283	0.30593	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.90900	-2.75;-2.75;-2.74;-2.71	5.37	4.49	0.54785	.	0.091134	0.42821	D	0.000643	D	0.87188	0.6115	L	0.56769	1.78	0.54753	D	0.999982	B;B;B;B	0.31227	0.085;0.209;0.314;0.209	B;B;B;B	0.33799	0.066;0.082;0.17;0.11	T	0.81448	-0.0928	10	0.02654	T	1	-6.6255	14.9313	0.70916	0.0:0.8564:0.1436:0.0	.	105;126;126;126	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	E	126;126;126;105	ENSP00000360162:G126E;ENSP00000360164:G126E;ENSP00000360163:G126E;ENSP00000404275:G105E	ENSP00000360162:G126E	G	-	2	0	SMARCA1	128478040	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	4.979000	0.63806	0.997000	0.38969	0.600000	0.82982	GGA		0.398	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		5	144	0	0	0	1	0	5	144				
MAP1B	4131	broad.mit.edu	37	5	71493581	71493581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:71493581C>T	ENST00000296755.7	+	5	4697	c.4399C>T	c.(4399-4401)Cca>Tca	p.P1467S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1467					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)			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)		AGACTTTGCACCAATAAAAGA	0.413																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				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						c.(4399-4401)Cca>Tca		microtubule-associated protein 1B							66.0	64.0	65.0					5																	71493581		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493581C>T	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.4399C>T	5.37:g.71493581C>T	ENSP00000296755:p.Pro1467Ser						p.P1467S	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4697	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1467					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4399C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064356	0.36373	.	.	ENSG00000131711	ENST00000296755	T	0.03386	3.95	5.02	5.02	0.67125	.	0.184554	0.39146	N	0.001459	T	0.04048	0.0113	L	0.27053	0.805	0.43965	D	0.99664	P;P	0.47106	0.89;0.89	B;B	0.40901	0.343;0.343	T	0.54622	-0.8266	10	0.45353	T	0.12	-11.475	15.221	0.73310	0.0:0.849:0.151:0.0	.	1341;1467	A2BDK6;P46821	.;MAP1B_HUMAN	S	1467	ENSP00000296755:P1467S	ENSP00000296755:P1467S	P	+	1	0	MAP1B	71529337	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	2.110000	0.41873	2.622000	0.88805	0.555000	0.69702	CCA		0.413	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		34	38	0	0	0	1	0	34	38				
NME8	51314	broad.mit.edu	37	7	37902997	37902997	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:37902997G>A	ENST00000199447.4	+	8	759		c.e8-1		EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Splice_Site	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8						cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CTTTTTCATAGTATCCTGAAA	0.294																																						ENST00000199447.4																			0											c.e8-1		NME/NM23 family member 8							99.0	103.0	101.0					7																	37902997		2203	4300	6503	SO:0001630	splice_region_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37902997G>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.388-1G>A	7.37:g.37902997G>A						EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Splice_Site		NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			8	759	+								Q9NZH1	Splice_Site	SNP	ENST00000199447.4	37		CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	6.768	0.510628	0.12883	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7973	0.52108	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TXNDC3	37869522	0.999000	0.42202	0.552000	0.28243	0.077000	0.17291	3.798000	0.55522	2.483000	0.83821	0.591000	0.81541	.		0.294	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	Intron	41	128	0	0	0	1	0	41	128				
DDO	8528	broad.mit.edu	37	6	110714367	110714367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:110714367G>A	ENST00000368924.3	-	5	736	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	DDO_ENST00000368923.3_Missense_Mutation_p.H182Y	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	213					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGGATAAAATGCTCCACCCAG	0.512																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(721-723)Cat>Tat		D-aspartate oxidase							111.0	122.0	118.0					6																	110714367		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110714367G>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.721C>T	6.37:g.110714367G>A	ENSP00000357920:p.His241Tyr					DDO_ENST00000368923.3_Missense_Mutation_p.H182Y|DDO_ENST00000368925.1_Missense_Mutation_p.H213Y	p.H241Y	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	5	736	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	213					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.721C>T	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772024	0.69992	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.81579	-1.51;-1.51;-1.51	5.84	5.84	0.93424	.	0.104586	0.64402	D	0.000005	D	0.85327	0.5671	M	0.78223	2.4	0.49582	D	0.9998	D;D	0.71674	0.998;0.998	D;P	0.65010	0.931;0.907	T	0.81837	-0.0749	10	0.19147	T	0.46	-19.5353	16.4323	0.83853	0.0:0.0:0.8682:0.1318	.	182;241	Q99489-4;Q99489-3	.;.	Y	241;182;213	ENSP00000357920:H241Y;ENSP00000357919:H182Y;ENSP00000357921:H213Y	ENSP00000357919:H182Y	H	-	1	0	DDO	110821060	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.583000	0.46094	2.769000	0.95229	0.563000	0.77884	CAT		0.512	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			6	140	0	0	0	1	0	6	140				
DRD3	1814	broad.mit.edu	37	3	113878660	113878660	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:113878660G>A	ENST00000460779.1	-	4	614	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	DRD3_ENST00000467632.1_Silent_p.L109L|DRD3_ENST00000383673.2_Silent_p.L109L|DRD3_ENST00000295881.7_Silent_p.L109L	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	109					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATGACATCCAGGGTGACAAAA	0.502																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(325-327)Ctg>Ttg		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						173.0	141.0	152.0					3																	113878660		2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113878660G>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.325C>T	3.37:g.113878660G>A						DRD3_ENST00000295881.7_Silent_p.L109L|DRD3_ENST00000467632.1_Silent_p.L109L|DRD3_ENST00000460779.1_Silent_p.L109L	p.L109L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			3	755	-			109					A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.325C>T	CCDS2978.1																																																																																				0.502	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		44	84	0	0	0	1	0	44	84				
DDX51	317781	broad.mit.edu	37	12	132624724	132624724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:132624724G>A	ENST00000397333.3	-	12	1732	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	565	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCCTCGCGCGGTGGCGTCCGT	0.711																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1693-1695)aCc>aTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							38.0	43.0	42.0					12																	132624724		2143	4236	6379	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132624724G>A	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1694C>T	12.37:g.132624724G>A	ENSP00000380495:p.Thr565Ile						p.T565I	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	12	1732	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	565			Helicase C-terminal.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.1694C>T	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	G	3.323	-0.138248	0.06669	.	.	ENSG00000185163	ENST00000397333	T	0.73047	-0.71	5.01	1.16	0.20824	Helicase, C-terminal (3);	0.295033	0.37261	N	0.002177	T	0.43809	0.1264	N	0.04260	-0.245	0.35871	D	0.828247	B	0.18310	0.027	B	0.25759	0.063	T	0.23440	-1.0188	10	0.18710	T	0.47	-4.1715	8.8276	0.35065	0.3:0.0:0.7:0.0	.	565	Q8N8A6	DDX51_HUMAN	I	565	ENSP00000380495:T565I	ENSP00000380495:T565I	T	-	2	0	DDX51	131190677	1.000000	0.71417	0.002000	0.10522	0.005000	0.04900	2.998000	0.49465	-0.059000	0.13154	0.563000	0.77884	ACC		0.711	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		27	51	0	0	0	1	0	27	51				
EEPD1	80820	broad.mit.edu	37	7	36194487	36194487	+	Missense_Mutation	SNP	C	C	T	rs202070535		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36194487C>T	ENST00000242108.4	+	2	1272	c.554C>T	c.(553-555)gCc>gTc	p.A185V	EEPD1_ENST00000534978.1_Missense_Mutation_p.A185V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	185					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GGTATCAATGCCGCCTTCCTG	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19965	0.0		0.0	False		,,,				2504	0.0					ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(553-555)gCc>gTc		endonuclease/exonuclease/phosphatase family domain containing 1							75.0	79.0	77.0					7																	36194487		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194487C>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.554C>T	7.37:g.36194487C>T	ENSP00000242108:p.Ala185Val					EEPD1_ENST00000534978.1_Missense_Mutation_p.A185V	p.A185V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	1272	+			185					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.554C>T	CCDS34619.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.51	2.555871	0.45487	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.23754	1.89;1.89	5.0	5.0	0.66597	.	0.571822	0.19246	N	0.119052	T	0.24314	0.0589	L	0.35644	1.08	0.26891	N	0.967327	P	0.43231	0.801	B	0.40741	0.339	T	0.09122	-1.0689	10	0.34782	T	0.22	-23.205	16.664	0.85247	0.0:1.0:0.0:0.0	.	185	Q7L9B9	EEPD1_HUMAN	V	185	ENSP00000242108:A185V;ENSP00000442692:A185V	ENSP00000242108:A185V	A	+	2	0	EEPD1	36161012	0.941000	0.31946	0.385000	0.26158	0.923000	0.55619	6.009000	0.70745	2.606000	0.88127	0.561000	0.74099	GCC		0.617	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		20	84	0	0	0	1	0	20	84				
ADARB1	104	broad.mit.edu	37	21	46642097	46642097	+	Silent	SNP	C	C	T	rs9983291	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46642097C>T	ENST00000360697.3	+	10	2226	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	ADARB1_ENST00000539173.1_Silent_p.F737F|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Silent_p.F697F			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	737	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AGGACCAGTTCTCACTCACGC	0.652													C|||	36	0.0071885	0.025	0.0043	5008	,	,		16409	0.0		0.0	False		,,,				2504	0.0					ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(2209-2211)ttC>ttT		adenosine deaminase, RNA-specific, B1		C	,,,	101,4299	75.7+/-113.9	0,101,2099	29.0	26.0	27.0		2091,,2211,	4.2	1.0	21	dbSNP_119	27	5,8591	3.7+/-12.6	0,5,4293	no	coding-synonymous,intron,coding-synonymous,intron	ADARB1	NM_001112.3,NM_001160230.1,NM_015833.3,NM_015834.3	,,,	0,106,6392	TT,TC,CC		0.0582,2.2955,0.8156	,,,	697/702,,737/742,	46642097	106,12890	2200	4298	6498	SO:0001819	synonymous_variant	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46642097C>T	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.2211C>T	21.37:g.46642097C>T						ADARB1_ENST00000360697.3_Silent_p.F737F|ADARB1_ENST00000348831.4_Silent_p.F697F|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Intron	p.F737F	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	12	2646	+			737			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	c.2211C>T	CCDS33589.1																																																																																				0.652	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		6	13	0	0	0	1	0	6	13				
PNPLA1	285848	broad.mit.edu	37	6	36270036	36270036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36270036C>T	ENST00000394571.2	+	6	1174	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	PNPLA1_ENST00000388715.3_Missense_Mutation_p.P297S|PNPLA1_ENST00000312917.5_Missense_Mutation_p.P306S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	392	Pro-rich.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACTGCCCACCCCACCACCTGG	0.582											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(1174-1176)Cca>Tca		patatin-like phospholipase domain containing 1							176.0	151.0	160.0					6																	36270036		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36270036C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1174C>T	6.37:g.36270036C>T	ENSP00000378072:p.Pro392Ser		OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_ENST00000312917.5_Missense_Mutation_p.P306S|PNPLA1_ENST00000388715.3_Missense_Mutation_p.P297S	p.P392S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			6	1174	+			392			Pro-rich.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.1174C>T	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	4.575	0.106756	0.08780	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.26067	1.99;1.99;1.76;1.76	5.1	-4.62	0.03370	.	2.476350	0.01858	N	0.036440	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18745	-1.0327	10	0.06365	T	0.9	-0.6486	5.9644	0.19316	0.1761:0.2013:0.0:0.6226	.	392;306	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	S	297;306;393;392	ENSP00000373367:P297S;ENSP00000321116:P306S;ENSP00000391868:P393S;ENSP00000378072:P392S	ENSP00000321116:P306S	P	+	1	0	PNPLA1	36378014	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-1.137000	0.03219	-0.331000	0.08501	-0.265000	0.10407	CCA		0.582	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		30	46	0	0	0	1	0	30	46				
ANAPC2	29882	broad.mit.edu	37	9	140075360	140075360	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140075360C>T	ENST00000323927.2	-	8	1494	c.1490G>A	c.(1489-1491)cGt>cAt	p.R497H		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	497					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.R497H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GTCCGATGAACGCCGCTTGGA	0.652																																						ENST00000323927.2																			1	Substitution - Missense(1)	p.R497H(1)	endometrium(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1489-1491)cGt>cAt		anaphase promoting complex subunit 2							117.0	104.0	108.0					9																	140075360		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140075360C>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1490G>A	9.37:g.140075360C>T	ENSP00000314004:p.Arg497His						p.R497H	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	8	1494	-	all_cancers(76;0.0926)		497					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1490G>A	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832348	0.71258	.	.	ENSG00000176248	ENST00000323927	T	0.74421	-0.84	5.41	5.41	0.78517	Cullin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87091	0.6091	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.87870	0.2670	10	0.52906	T	0.07	-20.1544	16.6808	0.85291	0.0:1.0:0.0:0.0	.	497;494	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	H	497	ENSP00000314004:R497H	ENSP00000314004:R497H	R	-	2	0	ANAPC2	139195181	1.000000	0.71417	0.995000	0.50966	0.006000	0.05464	5.565000	0.67365	2.539000	0.85634	0.561000	0.74099	CGT		0.652	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		7	68	0	0	0	1	0	7	68				
GALNT15	117248	broad.mit.edu	37	3	16254120	16254120	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:16254120G>A	ENST00000339732.5	+	6	1745	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	GALNT15_ENST00000437509.1_Silent_p.R414R	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	414	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R414R(1)									CCTGCTCTCGGGTAGGACACA	0.557																																						ENST00000339732.5																			1	Substitution - coding silent(1)	p.R414R(1)	breast(1)								c.(1240-1242)cgG>cgA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							100.0	82.0	88.0					3																	16254120		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16254120G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1242G>A	3.37:g.16254120G>A						GALNT15_ENST00000437509.1_Silent_p.R414R	p.R414R	NM_054110.4	NP_473451.3					6	1745	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1242G>A	CCDS33711.1																																																																																				0.557	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		45	41	0	0	0	1	0	45	41				
MN1	4330	broad.mit.edu	37	22	28193716	28193716	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:28193716C>T	ENST00000302326.4	-	1	3770	c.2816G>A	c.(2815-2817)gGc>gAc	p.G939D		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	939					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCCCCGGCCGCCGCCCCCGGA	0.692			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2815-2817)gGc>gAc		meningioma (disrupted in balanced translocation) 1							10.0	13.0	12.0					22																	28193716		1846	4037	5883	SO:0001583	missense	4330						binding	g.chr22:28193716C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2816G>A	22.37:g.28193716C>T	ENSP00000304956:p.Gly939Asp						p.G939D	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3770	-			939					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.2816G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839630	0.51057	.	.	ENSG00000169184	ENST00000302326	T	0.48522	0.81	3.98	3.98	0.46160	.	0.175883	0.27270	N	0.020133	T	0.44953	0.1318	N	0.19112	0.55	0.39853	D	0.973275	D	0.54207	0.965	P	0.54401	0.751	T	0.40459	-0.9562	10	0.29301	T	0.29	-3.6466	14.8109	0.69994	0.0:1.0:0.0:0.0	.	939	Q10571	MN1_HUMAN	D	939	ENSP00000304956:G939D	ENSP00000304956:G939D	G	-	2	0	MN1	26523716	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	3.608000	0.54109	2.039000	0.60335	0.313000	0.20887	GGC		0.692	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		7	5	0	0	0	1	0	7	5				
COL4A4	1286	broad.mit.edu	37	2	227985863	227985863	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:227985863C>T	ENST00000396625.3	-	5	401	c.194G>A	c.(193-195)gGt>gAt	p.G65D	COL4A4_ENST00000329662.7_Splice_Site_p.G65D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	65	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTGGTGGACCCTGAGAAGG	0.502																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.e5-1		collagen, type IV, alpha 4							35.0	35.0	35.0					2																	227985863		1826	4083	5909	SO:0001630	splice_region_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227985863C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.193-1G>A	2.37:g.227985863C>T						COL4A4_ENST00000329662.7_Splice_Site_p.G65_splice	p.G65_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	5	401	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	65			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Splice_Site	SNP	ENST00000396625.3	37	c.192_splice	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529302	0.64860	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.24	5.24	0.73138	.	.	.	.	.	D	0.99694	0.9884	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97255	0.9900	9	0.87932	D	0	.	18.8187	0.92088	0.0:1.0:0.0:0.0	.	65	P53420	CO4A4_HUMAN	D	65	ENSP00000379866:G65D;ENSP00000328553:G65D	ENSP00000328553:G65D	G	-	2	0	COL4A4	227694107	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	6.055000	0.71103	2.451000	0.82905	0.455000	0.32223	GGT		0.502	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	Missense_Mutation	13	19	0	0	0	1	0	13	19				
PIK3CA	5290	broad.mit.edu	37	3	178952048	178952048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:178952048G>A	ENST00000263967.3	+	21	3260	c.3103G>A	c.(3103-3105)Gct>Act	p.A1035T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		A -> V (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		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.A1035T(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAGCAAGAGGCTTTGGAGTA	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.A1035T(2)	urinary_tract(1)|endometrium(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						c.(3103-3105)Gct>Act		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97.0	86.0	89.0					3																	178952048		1887	4127	6014	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952048G>A		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.3103G>A	3.37:g.178952048G>A	ENSP00000263967:p.Ala1035Thr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.A1035T	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3260	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1035		A -> V (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3103G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503960	0.85176	.	.	ENSG00000121879	ENST00000263967	D	0.83673	-1.75	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94434	0.7652	10	0.87932	D	0	-13.9415	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1035	P42336	PK3CA_HUMAN	T	1035	ENSP00000263967:A1035T	ENSP00000263967:A1035T	A	+	1	0	PIK3CA	180434742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	GCT		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	55	0	0	0	1	0	7	55				
FEM1A	55527	broad.mit.edu	37	19	4793177	4793177	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:4793177C>T	ENST00000269856.3	+	1	1450	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	437					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCTTCCTCTCCTTCGCGGAAC	0.607																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1309-1311)tcC>tcT		fem-1 homolog a (C. elegans)							77.0	83.0	81.0					19																	4793177		2203	4298	6501	SO:0001819	synonymous_variant	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793177C>T	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1311C>T	19.37:g.4793177C>T						AC005523.2_ENST00000601192.1_RNA	p.S437S	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1450	+		Hepatocellular(1079;0.137)	437					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Silent	SNP	ENST00000269856.3	37	c.1311C>T	CCDS12135.1																																																																																				0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			57	87	0	0	0	1	0	57	87				
SEMA3F	6405	broad.mit.edu	37	3	50197082	50197082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:50197082G>A	ENST00000002829.3	+	2	511	c.27G>A	c.(25-27)tgG>tgA	p.W9*	SEMA3F_ENST00000413852.1_Intron|SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.W9*	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	9					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTCTTCTCTGGGCTTCCCTAC	0.607																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(25-27)tgG>tgA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							60.0	56.0	57.0					3																	50197082		2203	4300	6503	SO:0001587	stop_gained	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50197082G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.27G>A	3.37:g.50197082G>A	ENSP00000002829:p.Trp9*					SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.W9*|SEMA3F_ENST00000413852.1_Intron	p.W9*	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	2	511	+			9					C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Nonsense_Mutation	SNP	ENST00000002829.3	37	c.27G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643078	0.87859	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000002829;ENST00000426511;ENST00000434342	.	.	.	5.6	5.6	0.85130	.	0.224671	0.32015	N	0.006715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4896	0.75593	0.0:0.0:1.0:0.0	.	.	.	.	X	9	.	ENSP00000002829:W9X	W	+	3	0	SEMA3F	50172086	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.227000	0.65305	2.797000	0.96272	0.655000	0.94253	TGG		0.607	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		4	43	0	0	0	1	0	4	43				
CCDC77	84318	broad.mit.edu	37	12	539903	539903	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:539903G>A	ENST00000239830.4	+	7	762		c.e7+1		CCDC77_ENST00000422000.1_Splice_Site|CCDC77_ENST00000540344.1_Splice_Site|CCDC77_ENST00000540180.1_Splice_Site|CCDC77_ENST00000412006.2_Splice_Site	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77							centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TTCAAAGCAGGTAACAACCAT	0.443																																						ENST00000239830.4																			0				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.e7+1		coiled-coil domain containing 77							113.0	110.0	111.0					12																	539903		2203	4300	6503	SO:0001630	splice_region_variant	84318					centrosome		g.chr12:539903G>A	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.583+1G>A	12.37:g.539903G>A						CCDC77_ENST00000540180.1_Splice_Site|CCDC77_ENST00000540344.1_Splice_Site|CCDC77_ENST00000412006.2_Splice_Site|CCDC77_ENST00000422000.1_Splice_Site		NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		7	762	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)							B4DDE8	Splice_Site	SNP	ENST00000239830.4	37		CCDS8503.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670272	0.47677	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8217	0.85748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC77	410164	1.000000	0.71417	0.999000	0.59377	0.481000	0.33189	5.594000	0.67557	2.258000	0.74832	0.298000	0.19748	.		0.443	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358	Intron	22	94	0	0	0	1	0	22	94				
TNNI1	7135	broad.mit.edu	37	1	201379544	201379544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201379544C>T	ENST00000361379.4	-	8	568	c.476G>A	c.(475-477)gGt>gAt	p.G159D	TNNI1_ENST00000367312.1_Missense_Mutation_p.G159D|TNNI1_ENST00000336092.4_Missense_Mutation_p.G159D|TNNI1_ENST00000555948.1_Intron	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	159					muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CCTCCAGTCACCCACCTCCAC	0.572																																						ENST00000361379.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(475-477)gGt>gAt		troponin I type 1 (skeletal, slow)							134.0	113.0	120.0					1																	201379544		2203	4300	6503	SO:0001583	missense	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201379544C>T	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.476G>A	1.37:g.201379544C>T	ENSP00000354488:p.Gly159Asp					TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000367312.1_Missense_Mutation_p.G159D|TNNI1_ENST00000336092.4_Missense_Mutation_p.G159D	p.G159D	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN			8	568	-			159					A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	c.476G>A	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827929	0.71143	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000367312	D;D;D	0.94828	-3.53;-3.53;-3.53	4.94	4.94	0.65067	.	0.053193	0.85682	D	0.000000	D	0.93890	0.8045	M	0.74467	2.265	0.54753	D	0.999987	B	0.26602	0.154	B	0.19391	0.025	D	0.92806	0.6260	10	0.72032	D	0.01	-24.6394	18.1482	0.89665	0.0:1.0:0.0:0.0	.	159	P19237	TNNI1_HUMAN	D	159	ENSP00000354488:G159D;ENSP00000337022:G159D;ENSP00000356281:G159D	ENSP00000337022:G159D	G	-	2	0	TNNI1	199646167	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	7.692000	0.84203	2.282000	0.76494	0.561000	0.74099	GGT		0.572	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		19	39	0	0	0	1	0	19	39				
ROCK1	6093	broad.mit.edu	37	18	18546931	18546931	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:18546931G>A	ENST00000399799.2	-	27	4239	c.3299C>T	c.(3298-3300)tCt>tTt	p.S1100F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1100					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S1100C(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AACACTTGTAGAATCCGAGAG	0.398																																						ENST00000399799.1																			1	Substitution - Missense(1)	p.S1100C(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(3298-3300)tCt>tTt		Rho-associated, coiled-coil containing protein kinase 1							151.0	136.0	141.0					18																	18546931		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18546931G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3299C>T	18.37:g.18546931G>A	ENSP00000382697:p.Ser1100Phe						p.S1100F	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			27	4239	-	Melanoma(1;0.165)		1100					B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.3299C>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125468	0.77436	.	.	ENSG00000067900	ENST00000399799	T	0.14391	2.51	5.62	4.73	0.59995	.	0.184196	0.47455	D	0.000235	T	0.28466	0.0704	L	0.61218	1.895	0.36220	D	0.85194	P	0.48016	0.904	P	0.52710	0.707	T	0.32877	-0.9890	10	0.59425	D	0.04	.	16.4538	0.84007	0.0:0.1316:0.8684:0.0	.	1100	Q13464	ROCK1_HUMAN	F	1100	ENSP00000382697:S1100F	ENSP00000382697:S1100F	S	-	2	0	ROCK1	16800929	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.388000	0.59633	1.353000	0.45828	0.591000	0.81541	TCT		0.398	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		40	68	0	0	0	1	0	40	68				
THEMIS	387357	broad.mit.edu	37	6	128150651	128150651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:128150651G>A	ENST00000368248.2	-	3	827	c.679C>T	c.(679-681)Cct>Tct	p.P227S	THEMIS_ENST00000368250.1_Missense_Mutation_p.P148S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P192S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P227S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	227	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCATAAACAGGCTTGAGAATC	0.358																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(442-444)Cct>Tct		thymocyte selection associated							106.0	104.0	105.0					6																	128150651		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150651G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.679C>T	6.37:g.128150651G>A	ENSP00000357231:p.Pro227Ser					THEMIS_ENST00000368248.2_Missense_Mutation_p.P227S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P192S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P227S	p.P148S			Q8N1K5	THMS1_HUMAN			4	940	-			227			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.442C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608729	0.87258	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.80422	2.495	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.11792	-1.0573	10	0.87932	D	0	-15.2762	20.8597	0.99761	0.0:0.0:1.0:0.0	.	227;227	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	148;227;227;192	ENSP00000357233:P148S;ENSP00000439594:P227S;ENSP00000357231:P227S;ENSP00000439863:P192S	ENSP00000357231:P227S	P	-	1	0	THEMIS	128192344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.842000	0.86851	2.937000	0.99478	0.650000	0.86243	CCT		0.358	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		4	87	0	0	0	1	0	4	87				
PI4KB	5298	broad.mit.edu	37	1	151274394	151274394	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:151274394G>A	ENST00000368873.1	-	8	1843	c.1675C>T	c.(1675-1677)Ctg>Ttg	p.L559L	PI4KB_ENST00000368872.1_Silent_p.L544L|PI4KB_ENST00000529142.1_Silent_p.L227L|PI4KB_ENST00000368875.2_Silent_p.L571L|RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000368874.4_Silent_p.L544L|PI4KB_ENST00000271657.5_Silent_p.L571L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	559	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGACTGACAGGAGCCGCCAA	0.552																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1711-1713)Ctg>Ttg		phosphatidylinositol 4-kinase, catalytic, beta							51.0	57.0	55.0					1																	151274394		2203	4300	6503	SO:0001819	synonymous_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151274394G>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1675C>T	1.37:g.151274394G>A						PI4KB_ENST00000368873.1_Silent_p.L559L|PI4KB_ENST00000529142.1_Silent_p.L227L|PI4KB_ENST00000271657.5_Silent_p.L571L|PI4KB_ENST00000368872.1_Silent_p.L544L|PI4KB_ENST00000368874.4_Silent_p.L544L	p.L571L	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	2291	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		559			PI3K/PI4K.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.1711C>T																																																																																					0.552	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		13	25	0	0	0	1	0	13	25				
CYP2W1	54905	broad.mit.edu	37	7	1027919	1027919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:1027919C>T	ENST00000308919.7	+	8	1163	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	CYP2W1_ENST00000340150.6_Missense_Mutation_p.P328S	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	384					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		ACAGGGCACGCCCGTGATTCC	0.647																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(982-984)Ccc>Tcc		cytochrome P450, family 2, subfamily W, polypeptide 1							35.0	39.0	37.0					7																	1027919		2199	4299	6498	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1027919C>T	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.1150C>T	7.37:g.1027919C>T	ENSP00000310149:p.Pro384Ser					CYP2W1_ENST00000308919.7_Missense_Mutation_p.P384S	p.P328S			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	8	1004	+		Ovarian(82;0.0112)	384						Missense_Mutation	SNP	ENST00000308919.7	37	c.982C>T	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	C	0.471	-0.884270	0.02530	.	.	ENSG00000073067	ENST00000308919;ENST00000340150;ENST00000415893	T;T;T	0.67171	-0.25;-0.25;-0.25	4.71	2.83	0.33086	.	0.286278	0.39475	N	0.001343	T	0.53546	0.1803	N	0.17800	0.525	0.09310	N	1	B;P	0.39311	0.274;0.667	B;P	0.45232	0.18;0.474	T	0.42865	-0.9426	10	0.27785	T	0.31	.	9.4318	0.38615	0.3463:0.5332:0.1205:0.0	.	328;384	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	S	384;328;158	ENSP00000310149:P384S;ENSP00000344178:P328S;ENSP00000392581:P158S	ENSP00000310149:P384S	P	+	1	0	CYP2W1	994445	0.000000	0.05858	0.015000	0.15790	0.022000	0.10575	-0.139000	0.10358	0.471000	0.27319	0.561000	0.74099	CCC		0.647	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		9	23	0	0	0	1	0	9	23				
IFNLR1	163702	broad.mit.edu	37	1	24484173	24484173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:24484173C>T	ENST00000327535.1	-	7	1022	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.G308D	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	337					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GAAGCTGACGCCATCTTCTGT	0.617																																						ENST00000327535.1																			0											c.(1009-1011)gGc>gAc		interferon, lambda receptor 1							165.0	155.0	158.0					1																	24484173		2203	4300	6503	SO:0001583	missense	163702							g.chr1:24484173C>T	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1010G>A	1.37:g.24484173C>T	ENSP00000327824:p.Gly337Asp					IFNLR1_ENST00000374421.3_Missense_Mutation_p.G308D|IFNLR1_ENST00000327575.2_3'UTR	p.G337D	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					7	1022	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	c.1010G>A	CCDS248.1	.	.	.	.	.	.	.	.	.	.	C	7.929	0.740161	0.15642	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.73	0.739	0.18324	.	2.864140	0.00559	N	0.000280	T	0.43478	0.1249	L	0.43152	1.355	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.003;0.004	T	0.34079	-0.9843	9	0.59425	D	0.04	1.6109	8.1449	0.31106	0.0:0.5985:0.0:0.4015	.	337;308	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	D	337;308	.	ENSP00000327824:G337D	G	-	2	0	IL28RA	24356760	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.413000	0.07123	-0.037000	0.13646	0.655000	0.94253	GGC		0.617	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		50	78	0	0	0	1	0	50	78				
DDX42	11325	broad.mit.edu	37	17	61897206	61897206	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61897206C>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.A834T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CGTTGCTGTGCTCTTTGGTCC	0.532																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2500-2502)Gca>Aca		FtsJ homolog 3 (E. coli)							303.0	264.0	277.0					17																	61897206		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897206C>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897206C>T							p.A834T	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			21	3145	-			834					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.2500G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898664	0.72639	.	.	ENSG00000108592	ENST00000427159	T	0.38077	1.16	5.03	5.03	0.67393	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.089409	0.46442	D	0.000295	T	0.47875	0.1469	M	0.81239	2.535	0.48040	D	0.999571	D	0.56968	0.978	P	0.49922	0.626	T	0.54132	-0.8339	10	0.72032	D	0.01	-7.8903	9.3037	0.37863	0.0:0.9051:0.0:0.0949	.	834	Q8IY81	RRMJ3_HUMAN	T	834	ENSP00000396673:A834T	ENSP00000396673:A834T	A	-	1	0	FTSJ3	59250938	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.712000	0.61888	2.608000	0.88229	0.655000	0.94253	GCA		0.532	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		16	207	0	0	0	1	0	16	207				
SAV1	60485	broad.mit.edu	37	14	51101984	51101984	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:51101984A>G	ENST00000324679.4	-	5	1432	c.1069T>C	c.(1069-1071)Tac>Cac	p.Y357H	RN7SL452P_ENST00000482923.2_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	357	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GCTTGTCTGTATGCTTCATAC	0.403																																						ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(1069-1071)Tac>Cac		salvador homolog 1 (Drosophila)							129.0	122.0	124.0					14																	51101984		2203	4300	6503	SO:0001583	missense	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51101984A>G	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.1069T>C	14.37:g.51101984A>G	ENSP00000324729:p.Tyr357His						p.Y357H	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN			5	1432	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		357			SARAH.		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	37	c.1069T>C	CCDS9701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.051862|4.051862	0.75960|0.75960	.|.	.|.	ENSG00000151748|ENSG00000151748	ENST00000557458|ENST00000555720;ENST00000324679;ENST00000535862	.|T;T	.|0.53640	.|0.65;0.61	5.77|5.77	5.77|5.77	0.91146|0.91146	.|SARAH (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63745|0.63745	0.2537|0.2537	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|P	.|0.61201	.|0.885	T|T	0.66834|0.66834	-0.5823|-0.5823	5|10	.|0.72032	.|D	.|0.01	-5.6013|-5.6013	15.2706|15.2706	0.73699|0.73699	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|357	.|Q9H4B6	.|SAV1_HUMAN	T|H	62|289;357;324	.|ENSP00000451492:Y289H;ENSP00000324729:Y357H	.|ENSP00000324729:Y357H	I|Y	-|-	2|1	0|0	SAV1|SAV1	50171734|50171734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.491000|0.491000	0.33493|0.33493	9.270000|9.270000	0.95690|0.95690	2.201000|2.201000	0.70794|0.70794	0.533000|0.533000	0.62120|0.62120	ATA|TAC		0.403	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			5	146	0	0	0	1	0	5	146				
UTP18	51096	broad.mit.edu	37	17	49346223	49346223	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:49346223C>T	ENST00000225298.7	+	4	637	c.580C>T	c.(580-582)Cct>Tct	p.P194S		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	194					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GGGAGGAGTACCTGCCTGGGC	0.368																																						ENST00000225298.7																			0				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(580-582)Cct>Tct		UTP18 small subunit (SSU) processome component homolog (yeast)							93.0	93.0	93.0					17																	49346223		1840	4097	5937	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49346223C>T	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.580C>T	17.37:g.49346223C>T	ENSP00000225298:p.Pro194Ser						p.P194S	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		4	637	+			194					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.580C>T	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459324	0.84317	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.27402	1.67	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66035	-0.6023	10	0.72032	D	0.01	-16.5537	17.1102	0.86673	0.0:1.0:0.0:0.0	.	194	Q9Y5J1	UTP18_HUMAN	S	194;170	ENSP00000225298:P194S	ENSP00000225298:P194S	P	+	1	0	UTP18	46701222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.401000	0.59716	2.728000	0.93425	0.650000	0.86243	CCT		0.368	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		16	24	0	0	0	1	0	16	24				
SPINT2	10653	broad.mit.edu	37	19	38774273	38774273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:38774273G>A	ENST00000301244.7	+	2	548	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_5'UTR	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	38	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCAGACTTCTGCCTGGTGTCG	0.577																																						ENST00000301244.7																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(112-114)tGc>tAc		serine peptidase inhibitor, Kunitz type, 2							138.0	125.0	129.0					19																	38774273		2203	4300	6503	SO:0001583	missense	10653				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity	g.chr19:38774273G>A	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.113G>A	19.37:g.38774273G>A	ENSP00000301244:p.Cys38Tyr					SPINT2_ENST00000587090.1_5'UTR|SPINT2_ENST00000454580.3_Intron	p.C38Y	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	548	+	all_cancers(60;6.83e-07)		38			BPTI/Kunitz inhibitor 1.		A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	c.113G>A	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818620	0.71028	.	.	ENSG00000167642	ENST00000301244	D	0.96745	-4.11	5.28	5.28	0.74379	Proteinase inhibitor I2, Kunitz metazoa (6);	0.000000	0.64402	D	0.000004	D	0.98988	0.9655	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98968	1.0800	10	0.87932	D	0	.	14.4073	0.67090	0.0:0.0:1.0:0.0	.	38	O43291	SPIT2_HUMAN	Y	38	ENSP00000301244:C38Y	ENSP00000301244:C38Y	C	+	2	0	SPINT2	43466113	1.000000	0.71417	0.126000	0.21872	0.017000	0.09413	7.121000	0.77160	2.476000	0.83614	0.455000	0.32223	TGC		0.577	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			9	109	0	0	0	1	0	9	109				
PADI6	353238	broad.mit.edu	37	1	17698767	17698767	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:17698767G>A	ENST00000434762.2	+	0	77							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)			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)	GCCGAGCCATGTCCTTCCAGA	0.622																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)						159.0	175.0	170.0					1																	17698767		2188	4290	6478			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17698767G>A	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.17698767G>A										Q6TGC4	PADI6_HUMAN		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)	0	77	+		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)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.622	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		41	91	0	0	0	1	0	41	91				
AAAS	8086	broad.mit.edu	37	12	53708561	53708561	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:53708561G>A	ENST00000209873.4	-	6	684	c.519C>T	c.(517-519)gaC>gaT	p.D173D	AAAS_ENST00000394384.3_Intron|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Silent_p.D49D	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	173					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CACGGACTGAGTCATCTAGCA	0.547																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(517-519)gaC>gaT		achalasia, adrenocortical insufficiency, alacrimia							91.0	71.0	78.0					12																	53708561		2203	4300	6503	SO:0001819	synonymous_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53708561G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.519C>T	12.37:g.53708561G>A						AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Silent_p.D49D|AAAS_ENST00000394384.3_Intron	p.D173D	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			6	684	-			173					Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	c.519C>T	CCDS8856.1																																																																																				0.547	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			4	14	0	0	0	1	0	4	14				
METTL21B	25895	broad.mit.edu	37	12	58165018	58165018	+	5'Flank	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:58165018C>T	ENST00000300209.8	+	0	0				METTL21B_ENST00000333012.5_5'Flank|METTL1_ENST00000548681.1_5'UTR|METTL21B_ENST00000551420.1_5'Flank|RP11-571M6.15_ENST00000471530.1_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.D45N|METTL1_ENST00000257848.7_Missense_Mutation_p.D45N|METTL21B_ENST00000548256.1_5'Flank	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						TCAGACCAGTCCATCTCCTCT	0.483																																						ENST00000324871.7																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(133-135)Gac>Aac		methyltransferase like 1							87.0	77.0	80.0					12																	58165018		2203	4300	6503	SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58165018C>T	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58165018C>T	Exception_encountered					METTL1_ENST00000548681.1_5'UTR|METTL1_ENST00000257848.7_Missense_Mutation_p.D45N	p.D45N	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		2	842	-	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		45					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.133G>A	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401990	0.83120	.	.	ENSG00000037897	ENST00000324871;ENST00000257848	T	0.41758	0.99	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	L	0.54965	1.715	0.80722	D	1	B;B	0.32753	0.136;0.383	B;B	0.41135	0.26;0.348	T	0.43065	-0.9414	10	0.39692	T	0.17	-16.8113	17.6953	0.88279	0.0:1.0:0.0:0.0	.	45;45	Q9UBP6;Q53FS9	TRMB_HUMAN;.	N	45	ENSP00000257848:D45N	ENSP00000257848:D45N	D	-	1	0	METTL1	56451285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.720000	0.61944	2.495000	0.84180	0.655000	0.94253	GAC		0.483	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		19	33	0	0	0	1	0	19	33				
KIF11	3832	broad.mit.edu	37	10	94381231	94381231	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:94381231G>A	ENST00000260731.3	+	10	1307		c.e10+1			NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAATTTTAGGTAAGCCCTTG	0.358																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e10+1		kinesin family member 11							93.0	96.0	95.0					10																	94381231		2203	4300	6503	SO:0001630	splice_region_variant	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94381231G>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1217+1G>A	10.37:g.94381231G>A								NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			10	1307	+								A0AV49|B2RMV3|Q15716|Q5VWX0	Splice_Site	SNP	ENST00000260731.3	37		CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223855	0.79576	.	.	ENSG00000138160	ENST00000260731	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6135	0.88061	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF11	94371211	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.354000	0.79424	2.145000	0.66743	0.485000	0.47835	.		0.358	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523	Intron	22	37	0	0	0	1	0	22	37				
HAUS6	54801	broad.mit.edu	37	9	19063014	19063014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:19063014C>T	ENST00000380502.3	-	14	2088	c.1621G>A	c.(1621-1623)Gta>Ata	p.V541I	HAUS6_ENST00000380496.1_Missense_Mutation_p.V405I|SCARNA8_ENST00000515924.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	541					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACCTCTTCTACCAGATGATCT	0.403																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1621-1623)Gta>Ata		HAUS augmin-like complex, subunit 6							168.0	153.0	158.0					9																	19063014		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19063014C>T	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1621G>A	9.37:g.19063014C>T	ENSP00000369871:p.Val541Ile					HAUS6_ENST00000380496.1_Missense_Mutation_p.V405I	p.V541I	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			14	2088	-			541					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1621G>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756954	0.49362	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.50001	1.79;1.78;0.76	5.6	5.6	0.85130	.	0.437579	0.25689	N	0.028944	T	0.51873	0.1700	M	0.63428	1.95	0.30338	N	0.785955	B;B;P;B	0.44139	0.4;0.264;0.827;0.4	B;B;B;B	0.44133	0.124;0.124;0.442;0.124	T	0.58702	-0.7590	10	0.46703	T	0.11	-2.9646	16.3629	0.83275	0.0:1.0:0.0:0.0	.	506;541;405;541	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	I	541;405;57	ENSP00000369871:V541I;ENSP00000369865:V405I;ENSP00000409615:V57I	ENSP00000369865:V405I	V	-	1	0	HAUS6	19053014	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	4.571000	0.60879	2.641000	0.89580	0.563000	0.77884	GTA		0.403	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		9	162	0	0	0	1	0	9	162				
UNC5C	8633	broad.mit.edu	37	4	96137323	96137323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:96137323C>T	ENST00000453304.1	-	10	2033	c.1685G>A	c.(1684-1686)gGg>gAg	p.G562E	UNC5C_ENST00000506749.1_Missense_Mutation_p.G581E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	562	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTAGACTCTCCCTTGGGGAAT	0.433																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1684-1686)gGg>gAg		unc-5 homolog C (C. elegans)							90.0	92.0	92.0					4																	96137323		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96137323C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1685G>A	4.37:g.96137323C>T	ENSP00000406022:p.Gly562Glu					UNC5C_ENST00000506749.1_Missense_Mutation_p.G581E	p.G562E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	10	2033	-		Hepatocellular(203;0.114)	562			ZU5.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1685G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971039	0.92919	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.49139	0.79;0.79;0.79	6.06	6.06	0.98353	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.65800	-0.6080	10	0.32370	T	0.25	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	562;581;562	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	E	562;521;581;581	ENSP00000406022:G562E;ENSP00000426924:G581E;ENSP00000426153:G581E	ENSP00000328673:G521E	G	-	2	0	UNC5C	96356346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.601000	0.82783	2.882000	0.98803	0.655000	0.94253	GGG		0.433	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		7	37	0	0	0	1	0	7	37				
PUF60	22827	broad.mit.edu	37	8	144902883	144902883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:144902883C>T	ENST00000526683.1	-	5	856	c.301G>A	c.(301-303)Gca>Aca	p.A101T	PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Intron|PUF60_ENST00000453551.2_Missense_Mutation_p.A58T|PUF60_ENST00000456095.2_Missense_Mutation_p.A72T|PUF60_ENST00000527197.1_Intron|PUF60_ENST00000349157.6_Intron	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	101	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	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;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCACTGCTGCCATCTGAAAG	0.542																																						ENST00000526683.1																			0				NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(301-303)Gca>Aca		poly-U binding splicing factor 60KDa							183.0	198.0	193.0					8																	144902883		2117	4233	6350	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144902883C>T	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.301G>A	8.37:g.144902883C>T	ENSP00000434359:p.Ala101Thr					PUF60_ENST00000456095.2_Missense_Mutation_p.A72T|PUF60_ENST00000313352.7_Intron|PUF60_ENST00000453551.2_Missense_Mutation_p.A58T|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000527197.1_Intron	p.A101T	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		5	856	-	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)		101			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.301G>A	CCDS47934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.925651|4.925651	0.92319|0.92319	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000456095;ENST00000533162|ENST00000527744	T;T;T;T|.	0.19532|.	2.51;2.55;2.54;2.14|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60431|.	0.2268|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.993|.	D;D|.	0.73708|.	0.981;0.956|.	T|.	0.55755|.	-0.8091|.	10|.	0.51188|.	T|.	0.08|.	.|.	17.9|17.9	0.88900|0.88900	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	72;101|.	Q9UHX1-5;Q9UHX1|.	.;PUF60_HUMAN|.	T|X	101;58;72;138|98	ENSP00000434359:A101T;ENSP00000402953:A58T;ENSP00000395417:A72T;ENSP00000433403:A138T|.	ENSP00000402953:A58T|.	A|W	-|-	1|3	0|0	PUF60|PUF60	144974871|144974871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.116000|7.116000	0.77119|0.77119	2.474000|2.474000	0.83562|0.83562	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.542	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		10	140	0	0	0	1	0	10	140				
TTN	7273	broad.mit.edu	37	2	179455716	179455716	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179455716C>T	ENST00000591111.1	-	254	56037	c.55813G>A	c.(55813-55815)Gtt>Att	p.V18605I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V11306I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V20246I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V11181I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V11373I|TTN_ENST00000342992.6_Missense_Mutation_p.V17678I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18605	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGCTCTAACTCGGAAAACA	0.463																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60736-60738)Gtt>Att		titin							210.0	208.0	209.0					2																	179455716		1914	4129	6043	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455716C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55813G>A	2.37:g.179455716C>T	ENSP00000465570:p.Val18605Ile					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V18605I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V11373I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V11181I|TTN_ENST00000359218.5_Missense_Mutation_p.V11306I|TTN_ENST00000342992.6_Missense_Mutation_p.V17678I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.V20246I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60960	-			18605			Ig-like 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60736G>A		.	.	.	.	.	.	.	.	.	.	C	11.72	1.721525	0.30503	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69024	0.3065	L	0.41961	1.31	0.53005	D	0.999962	B;B;B;B	0.28026	0.198;0.198;0.198;0.122	B;B;B;B	0.30316	0.114;0.114;0.114;0.037	T	0.66264	-0.5967	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11181;11306;11373;18605	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	17678;11181;11373;11306;11179	ENSP00000343764:V17678I;ENSP00000434586:V11181I;ENSP00000340554:V11373I;ENSP00000352154:V11306I	ENSP00000340554:V11373I	V	-	1	0	TTN	179163962	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	4.013000	0.57138	2.906000	0.99361	0.655000	0.94253	GTT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	182	0	0	0	1	0	14	182				
SELO	83642	broad.mit.edu	37	22	50649271	50649271	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50649271C>T	ENST00000380903.2	+	5	1340	c.1282C>T	c.(1282-1284)Ctc>Ttc	p.L428F	RP3-402G11.28_ENST00000608016.1_RNA|SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		428													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAAGCTGGGCCTCGTGCAGGT	0.652											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380903.2																			0											c.(1282-1284)Ctc>Ttc									84.0	99.0	94.0					22																	50649271		2106	4209	6315	SO:0001583	missense	0							g.chr22:50649271C>T																												ENST00000380903.2:c.1282C>T	22.37:g.50649271C>T	ENSP00000370288:p.Leu428Phe		OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	RP3-402G11.5_ENST00000492092.1_3'UTR	p.L428F	NM_031454.1	NP_113642.1					5	1340	+								Q2TAL2|Q5JZ81|Q8WUI0	Missense_Mutation	SNP	ENST00000380903.2	37	c.1282C>T	CCDS43034.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104556	0.56291	.	.	ENSG00000073169	ENST00000380903	T	0.45276	0.9	5.82	5.82	0.92795	.	0.073694	0.56097	D	0.000032	T	0.62490	0.2432	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.87578	0.951;0.998	T	0.65360	-0.6187	10	0.87932	D	0	.	10.4933	0.44762	0.0:0.8559:0.0:0.1441	.	428;271	Q9BVL4;Q6ICA4	SELO_HUMAN;.	F	428	ENSP00000370288:L428F	ENSP00000370288:L428F	L	+	1	0	RP3-402G11.5	48991398	0.997000	0.39634	0.998000	0.56505	0.259000	0.26198	1.787000	0.38704	2.761000	0.94854	0.561000	0.74099	CTC		0.652	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2			20	92	0	0	0	1	0	20	92				
FAM86DP	692099	broad.mit.edu	37	3	75476723	75476723	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:75476723C>T	ENST00000459803.1	-	0	633					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.G198G(1)									GAAGGACATTCCCTCGGAGCT	0.612																																						ENST00000459803.1																			1	Substitution - coding silent(1)	p.G198G(1)	lung(1)																																																0							g.chr3:75476723C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476723C>T								NR_024241.1						0	633	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.612	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		6	59	0	0	0	1	0	6	59				
HEBP1	50865	broad.mit.edu	37	12	13142324	13142324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:13142324G>A	ENST00000014930.4	-	2	262	c.104C>T	c.(103-105)gCc>gTc	p.A35V	HEBP1_ENST00000536942.1_Missense_Mutation_p.A35V	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	35					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GCCTTCACAGGCCCTTTCTTC	0.483																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(103-105)gCc>gTc		heme binding protein 1							114.0	98.0	103.0					12																	13142324		2203	4300	6503	SO:0001583	missense	50865				circadian rhythm	extracellular region		g.chr12:13142324G>A	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.104C>T	12.37:g.13142324G>A	ENSP00000014930:p.Ala35Val					HEBP1_ENST00000014930.4_Missense_Mutation_p.A35V	p.A35V			Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	254	-		Prostate(47;0.183)	35					A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	37	c.104C>T	CCDS31749.1	.	.	.	.	.	.	.	.	.	.	G	9.952	1.220351	0.22457	.	.	ENSG00000013583	ENST00000014930;ENST00000536942	T;T	0.23348	1.91;1.91	6.02	4.2	0.49525	Regulatory factor, effector, bacterial (1);	0.582334	0.19673	N	0.108697	T	0.21509	0.0518	L	0.46157	1.445	0.25643	N	0.986173	B	0.28584	0.216	B	0.28784	0.094	T	0.14980	-1.0453	10	0.29301	T	0.29	-7.0989	8.7884	0.34835	0.0678:0.0:0.5648:0.3674	.	35	Q9NRV9	HEBP1_HUMAN	V	35	ENSP00000014930:A35V;ENSP00000441678:A35V	ENSP00000014930:A35V	A	-	2	0	HEBP1	13033591	0.658000	0.27402	0.935000	0.37517	0.062000	0.15995	0.754000	0.26390	0.879000	0.35944	-0.142000	0.14014	GCC		0.483	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			38	62	0	0	0	1	0	38	62				
PRAMEF2	65122	broad.mit.edu	37	1	12919696	12919696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:12919696C>T	ENST00000240189.2	+	3	523	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	146					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGCACCAGCCCTTAAAGGT	0.547																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(436-438)Ccc>Tcc		PRAME family member 2							123.0	135.0	131.0					1																	12919696		2202	4294	6496	SO:0001583	missense	65122							g.chr1:12919696C>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.436C>T	1.37:g.12919696C>T	ENSP00000240189:p.Pro146Ser						p.P146S	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	523	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	146						Missense_Mutation	SNP	ENST00000240189.2	37	c.436C>T	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631405	0.28978	.	.	ENSG00000120952	ENST00000240189	T	0.04551	3.6	0.842	0.842	0.18927	.	0.413093	0.19318	N	0.117207	T	0.14270	0.0345	M	0.77712	2.385	0.09310	N	1	D	0.63046	0.992	D	0.64506	0.926	T	0.02901	-1.1096	10	0.54805	T	0.06	.	5.0452	0.14480	0.0:1.0:0.0:0.0	.	146	O60811	PRAM2_HUMAN	S	146	ENSP00000240189:P146S	ENSP00000240189:P146S	P	+	1	0	PRAMEF2	12842283	0.001000	0.12720	0.032000	0.17829	0.083000	0.17756	-0.032000	0.12266	0.759000	0.33084	0.194000	0.17425	CCC		0.547	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		15	203	0	0	0	1	0	15	203				
WDR35	57539	broad.mit.edu	37	2	20137549	20137549	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:20137549C>T	ENST00000345530.3	-	20	2370	c.2255G>A	c.(2254-2256)gGc>gAc	p.G752D	WDR35_ENST00000281405.4_Missense_Mutation_p.G741D|WDR35_ENST00000416055.2_Missense_Mutation_p.G317D	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	752					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)				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)					TTCAAACCTGCCGAAGTAGCC	0.448																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2254-2256)gGc>gAc		WD repeat domain 35							171.0	172.0	172.0					2																	20137549		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20137549C>T	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.2255G>A	2.37:g.20137549C>T	ENSP00000314444:p.Gly752Asp					WDR35_ENST00000281405.4_Missense_Mutation_p.G741D|WDR35_ENST00000416055.2_Missense_Mutation_p.G317D	p.G752D	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			20	2370	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		752					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2255G>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162644	0.57368	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.87256	-0.3;-0.3;-0.83;-2.23	5.29	4.41	0.53225	.	0.286967	0.40222	N	0.001145	D	0.89019	0.6596	L	0.56769	1.78	0.80722	D	1	P;P;B;B	0.48911	0.917;0.731;0.103;0.079	P;B;B;B	0.51193	0.662;0.394;0.072;0.177	D	0.90033	0.4136	10	0.72032	D	0.01	-8.3061	15.373	0.74581	0.0:0.8601:0.1399:0.0	.	752;741;752;317	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	D	752;741;317;287	ENSP00000314444:G752D;ENSP00000281405:G741D;ENSP00000399159:G317D;ENSP00000404409:G287D	ENSP00000281405:G741D	G	-	2	0	WDR35	20001030	1.000000	0.71417	0.976000	0.42696	0.880000	0.50808	7.776000	0.85560	1.350000	0.45770	0.591000	0.81541	GGC		0.448	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		9	148	0	0	0	1	0	9	148				
LDHAL6B	92483	broad.mit.edu	37	15	59499439	59499439	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:59499439G>A	ENST00000307144.4	+	1	398	c.300G>A	c.(298-300)gtG>gtA	p.V100V	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	100					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TTGCCCTTGTGGATCTTGATG	0.438																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(298-300)gtG>gtA		lactate dehydrogenase A-like 6B	NADH(DB00157)						124.0	123.0	123.0					15																	59499439		2191	4290	6481	SO:0001819	synonymous_variant	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499439G>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.300G>A	15.37:g.59499439G>A						MYO1E_ENST00000288235.4_Intron	p.V100V	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	398	+			100					Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	c.300G>A	CCDS10171.1																																																																																				0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		4	129	0	0	0	1	0	4	129				
CCDC144A	9720	broad.mit.edu	37	17	16612926	16612926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:16612926G>A	ENST00000360524.8	+	5	1631	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E519K|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E518K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E519K|CCDC144A_ENST00000443444.2_Missense_Mutation_p.E519K|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000456009.1_Intron	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	519																	TTTGAAGAAAGAAGATGTTCA	0.348																																						ENST00000443444.2																			0											c.(1555-1557)Gaa>Aaa		coiled-coil domain containing 144A							92.0	88.0	89.0					17																	16612926		1828	4079	5907	SO:0001583	missense	9720							g.chr17:16612926G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1555G>A	17.37:g.16612926G>A	ENSP00000353717:p.Glu519Lys					CCDC144A_ENST00000360524.8_Missense_Mutation_p.E519K|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E518K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E519K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E519K|CCDC144A_ENST00000456009.1_Intron	p.E519K			A2RUR9	C144A_HUMAN			5	1695	+			519					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1555G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.720149	0.48728	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	1.38	1.38	0.22167	.	.	.	.	.	T	0.15912	0.0383	L	0.38175	1.15	0.80722	D	1	B	0.18741	0.03	B	0.18263	0.021	T	0.07046	-1.0793	9	0.09590	T	0.72	.	8.3195	0.32121	0.0:0.0:1.0:0.0	.	519	A2RUR9	C144A_HUMAN	K	320;518;519;519;519;519;519	ENSP00000344740:E518K;ENSP00000382215:E519K;ENSP00000439262:E519K;ENSP00000440655:E519K;ENSP00000353717:E519K;ENSP00000353685:E519K	ENSP00000344740:E518K	E	+	1	0	CCDC144A	16553651	1.000000	0.71417	0.096000	0.21009	0.035000	0.12851	2.508000	0.45450	0.738000	0.32606	0.175000	0.17021	GAA		0.348	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			33	95	0	0	0	1	0	33	95				
PDE6G	5148	broad.mit.edu	37	17	79620211	79620211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:79620211G>A	ENST00000331056.5	-	2	268	c.125C>T	c.(124-126)cCc>cTc	p.P42L	PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Missense_Mutation_p.P42L|PDE6G_ENST00000573076.1_Missense_Mutation_p.P92L|PDE6G_ENST00000571004.1_Missense_Mutation_p.P42L	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	42	Arg/Lys-rich (basic).				activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	TTTCTTTGGGGGCTTGCTCTT	0.637																																					GBM(189;38 2147 16440 40945 46567)	ENST00000573076.1																			0				lung(2)|urinary_tract(1)	3						c.(274-276)cCc>cTc		phosphodiesterase 6G, cGMP-specific, rod, gamma							105.0	106.0	106.0					17																	79620211		2203	4300	6503	SO:0001583	missense	5148				platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr17:79620211G>A		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545		ENST00000331056.5:c.125C>T	17.37:g.79620211G>A	ENSP00000328412:p.Pro42Leu					PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Missense_Mutation_p.P42L|PDE6G_ENST00000571004.1_Missense_Mutation_p.P42L|PDE6G_ENST00000331056.5_Missense_Mutation_p.P42L	p.P92L			P18545	CNRG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	750	-	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		42					Q3KP63|Q7Z3U8	Missense_Mutation	SNP	ENST00000331056.5	37	c.275C>T	CCDS11783.1	.	.	.	.	.	.	.	.	.	.	g	35	5.458663	0.96240	.	.	ENSG00000185527	ENST00000331056	T	0.51071	0.72	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75950	-0.3137	9	0.87932	D	0	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	42	P18545	CNRG_HUMAN	L	42	ENSP00000328412:P42L	ENSP00000328412:P42L	P	-	2	0	PDE6G	77230616	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.560000	0.98139	2.547000	0.85894	0.556000	0.70494	CCC		0.637	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			12	181	0	0	0	1	0	12	181				
SNRNP40	9410	broad.mit.edu	37	1	31766136	31766136	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:31766136C>T	ENST00000263694.4	-	2	219	c.201G>A	c.(199-201)ggG>ggA	p.G67G	SNRNP40_ENST00000446633.2_Silent_p.G67G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	67					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGTAGACTTCCCCTTCATGTC	0.468																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(199-201)ggG>ggA		small nuclear ribonucleoprotein 40kDa (U5)							98.0	82.0	88.0					1																	31766136		2203	4300	6503	SO:0001819	synonymous_variant	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31766136C>T	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.201G>A	1.37:g.31766136C>T						SNRNP40_ENST00000446633.2_Silent_p.G67G	p.G67G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			2	219	-			67					B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	c.201G>A	CCDS340.1																																																																																				0.468	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		6	52	0	0	0	1	0	6	52				
METTL17	64745	broad.mit.edu	37	14	21464875	21464875	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21464875G>A	ENST00000339374.6	+	13	1498				SLC39A2_ENST00000298681.4_5'Flank|METTL17_ENST00000382985.4_Missense_Mutation_p.G424R|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Intron|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CGGCAGGTATGGGGGGTGTGA	0.587																																						ENST00000382985.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1270-1272)Ggg>Agg		methyltransferase like 17							90.0	90.0	90.0					14																	21464875		2203	4300	6503	SO:0001627	intron_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464875G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1265+5G>A	14.37:g.21464875G>A						METTL17_ENST00000556670.2_Intron|METTL17_ENST00000339374.6_Intron|RP11-84C10.4_ENST00000557335.1_RNA	p.G424R			Q9H7H0	MET17_HUMAN			13	1293	+			0					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1270G>A	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	0.879	-0.729276	0.03135	.	.	ENSG00000165792	ENST00000382985	T	0.27890	1.64	5.13	-7.26	0.01466	.	0.449234	0.22334	N	0.061422	T	0.14356	0.0347	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	8	.	.	.	.	11.8643	0.52484	0.2163:0.1287:0.655:0.0	.	424	Q9H7H0-3	.	R	424	ENSP00000372445:G424R	.	G	+	1	0	METTL17	20534715	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.981000	0.03766	-1.498000	0.01824	-0.238000	0.12139	GGG		0.587	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		33	71	0	0	0	1	0	33	71				
GIGYF1	64599	broad.mit.edu	37	7	100285434	100285434	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100285434C>T	ENST00000275732.5	-	3	1447	c.238G>A	c.(238-240)Gag>Aag	p.E80K	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	80					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTCAGCGGCTCCAGAGCCAGG	0.677																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(238-240)Gag>Aag		GRB10 interacting GYF protein 1							40.0	47.0	44.0					7																	100285434		2201	4293	6494	SO:0001583	missense	64599							g.chr7:100285434C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.238G>A	7.37:g.100285434C>T	ENSP00000275732:p.Glu80Lys					GIGYF1_ENST00000471340.2_5'UTR	p.E80K	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			3	1447	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		80					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.238G>A	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	32	5.190428	0.94923	.	.	ENSG00000146830	ENST00000275732	D	0.82344	-1.6	4.73	4.73	0.59995	.	0.142692	0.47852	D	0.000216	T	0.69305	0.3096	N	0.19112	0.55	0.34915	D	0.747811	P	0.50528	0.936	B	0.39217	0.294	T	0.78884	-0.2028	10	0.51188	T	0.08	-24.9264	11.0191	0.47707	0.0:0.8118:0.1881:0.0	.	80	O75420	PERQ1_HUMAN	K	80	ENSP00000275732:E80K	ENSP00000275732:E80K	E	-	1	0	GIGYF1	100123370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.728000	0.47319	2.455000	0.83008	0.563000	0.77884	GAG		0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		5	82	0	0	0	1	0	5	82				
UBE3B	89910	broad.mit.edu	37	12	109935729	109935729	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:109935729G>A	ENST00000342494.3	+	10	1414		c.e10+1		UBE3B_ENST00000280774.5_Splice_Site|UBE3B_ENST00000434735.2_Splice_Site	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B						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)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GACCCCTGAGGTAAGCAGGCT	0.458																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.e10+1		ubiquitin protein ligase E3B							154.0	127.0	136.0					12																	109935729		2203	4300	6503	SO:0001630	splice_region_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109935729G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.819+1G>A	12.37:g.109935729G>A						UBE3B_ENST00000434735.2_Splice_Site|UBE3B_ENST00000280774.5_Splice_Site		NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			10	1414	+								A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Splice_Site	SNP	ENST00000342494.3	37		CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699733	0.88924	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4259	0.94741	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE3B	108420112	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.952000	0.93031	2.839000	0.97877	0.585000	0.79938	.		0.458	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	Intron	25	63	0	0	0	1	0	25	63				
INTS2	57508	broad.mit.edu	37	17	59949712	59949712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:59949712G>A	ENST00000444766.3	-	20	2791	c.2716C>T	c.(2716-2718)Cag>Tag	p.Q906*	Y_RNA_ENST00000365491.1_RNA|INTS2_ENST00000251334.6_Nonsense_Mutation_p.Q898*	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	906					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTATTATTCTGGGAAGGCCTA	0.403																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(2716-2718)Cag>Tag		integrator complex subunit 2							94.0	82.0	86.0					17																	59949712		1835	4103	5938	SO:0001587	stop_gained	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59949712G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2716C>T	17.37:g.59949712G>A	ENSP00000414237:p.Gln906*					INTS2_ENST00000251334.6_Nonsense_Mutation_p.Q898*	p.Q906*	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			20	2791	-			906					Q9ULD3	Nonsense_Mutation	SNP	ENST00000444766.3	37	c.2716C>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	39	7.744123	0.98465	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	.	.	.	5.19	5.19	0.71726	.	0.304112	0.36002	N	0.002848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7698	18.0965	0.89492	0.0:0.0:1.0:0.0	.	.	.	.	X	906;905	.	.	Q	-	1	0	INTS2	57304494	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.587000	0.90810	2.579000	0.87056	0.557000	0.71058	CAG		0.403	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		8	17	0	0	0	1	0	8	17				
PLPPR5	163404	broad.mit.edu	37	1	99470167	99470167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:99470167C>T	ENST00000263177.4	-	1	282	c.61G>A	c.(61-63)Gca>Aca	p.A21T	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'Flank|LPPR5_ENST00000370188.3_Missense_Mutation_p.A21T	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		21						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										ACCGTCCCTGCCATGATCACC	0.647																																						ENST00000370188.3																			0											c.(61-63)Gca>Aca									94.0	75.0	82.0					1																	99470167		2201	4298	6499	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99470167C>T																												ENST00000263177.4:c.61G>A	1.37:g.99470167C>T	ENSP00000263177:p.Ala21Thr					LPPR5_ENST00000263177.4_Missense_Mutation_p.A21T|RP5-896L10.1_ENST00000425113.1_RNA	p.A21T	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			1	421	-			21					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.61G>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650192	0.87958	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.59906	0.23;0.23	3.87	2.92	0.33932	.	0.243064	0.41097	D	0.000942	T	0.66963	0.2843	M	0.82193	2.58	0.48288	D	0.999623	D;D	0.71674	0.996;0.998	D;D	0.65874	0.939;0.926	T	0.73072	-0.4098	10	0.87932	D	0	.	11.4803	0.50322	0.1816:0.8184:0.0:0.0	.	21;21	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	T	21	ENSP00000359207:A21T;ENSP00000263177:A21T	ENSP00000263177:A21T	A	-	1	0	AL161744.1	99242755	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.424000	0.66464	0.902000	0.36520	0.555000	0.69702	GCA		0.647	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			25	68	0	0	0	1	0	25	68				
IDI2	91734	broad.mit.edu	37	10	1065557	1065557	+	Missense_Mutation	SNP	G	G	A	rs138472250		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:1065557G>A	ENST00000277517.1	-	5	648	c.584C>T	c.(583-585)cCc>cTc	p.P195L	GTPBP4_ENST00000360803.4_3'UTR	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	195	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TCTTAGCCAGGGGGTGACTTT	0.562																																						ENST00000277517.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(583-585)cCc>cTc		isopentenyl-diphosphate delta isomerase 2		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	65.0	65.0	65.0		584	3.5	0.0	10	dbSNP_134	65	0,8600		0,0,4300	no	missense	IDI2	NM_033261.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	195/228	1065557	1,13005	2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1065557G>A	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.584C>T	10.37:g.1065557G>A	ENSP00000277517:p.Pro195Leu					GTPBP4_ENST00000360803.4_3'UTR	p.P195L	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	5	648	-		Colorectal(49;0.235)	195			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000277517.1	37	c.584C>T	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577718	0.86645	2.27E-4	0.0	ENSG00000148377	ENST00000277517	T	0.09630	2.96	3.55	3.55	0.40652	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.056013	0.64402	U	0.000001	T	0.41766	0.1173	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.58335	-0.7654	10	0.87932	D	0	-17.9662	13.7851	0.63105	0.0:0.0:1.0:0.0	.	195	Q9BXS1	IDI2_HUMAN	L	195	ENSP00000277517:P195L	ENSP00000277517:P195L	P	-	2	0	IDI2	1055557	1.000000	0.71417	0.023000	0.16930	0.289000	0.27227	3.517000	0.53443	1.982000	0.57802	0.185000	0.17295	CCC		0.562	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		14	41	0	0	0	1	0	14	41				
BSN	8927	broad.mit.edu	37	3	49688137	49688137	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49688137G>A	ENST00000296452.4	+	4	1725	c.1611G>A	c.(1609-1611)caG>caA	p.Q537Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	537					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCACCTCACAGCAGCCCCCTG	0.657																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(1609-1611)caG>caA		bassoon presynaptic cytomatrix protein							57.0	71.0	66.0					3																	49688137		2200	4296	6496	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49688137G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1611G>A	3.37:g.49688137G>A							p.Q537Q	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	1725	+			537					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.1611G>A	CCDS2800.1																																																																																				0.657	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		12	142	0	0	0	1	0	12	142				
RPS7	6201	broad.mit.edu	37	2	3623241	3623241	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:3623241G>A	ENST00000304921.5	+	2	206	c.42G>A	c.(40-42)gaG>gaA	p.E14E	RPS7_ENST00000406376.1_Silent_p.E14E|RPS7_ENST00000403564.1_Silent_p.E14E|RPS7_ENST00000407445.3_Silent_p.E14E	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	14					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CCAATGGCGAGAAGCCGGACG	0.682																																						ENST00000407445.3																			0				endometrium(1)|lung(2)|urinary_tract(1)	4						c.(40-42)gaG>gaA		ribosomal protein S7							30.0	35.0	33.0					2																	3623241		2201	4299	6500	SO:0001819	synonymous_variant	6201				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:3623241G>A		CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"""S ribosomal proteins"""	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.42G>A	2.37:g.3623241G>A						RPS7_ENST00000304921.5_Silent_p.E14E|RPS7_ENST00000406376.1_Silent_p.E14E|RPS7_ENST00000403564.1_Silent_p.E14E	p.E14E			P62081	RS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)	2	89	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		14					P23821|P24818|Q57Z92|Q6IPH1	Silent	SNP	ENST00000304921.5	37	c.42G>A	CCDS1648.1																																																																																				0.682	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206667.1	NM_001011		6	53	0	0	0	1	0	6	53				
SLC39A11	201266	broad.mit.edu	37	17	70943898	70943898	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:70943898G>A	ENST00000542342.2	-	5	511	c.423C>T	c.(421-423)atC>atT	p.I141I	SLC39A11_ENST00000579732.1_Silent_p.I141I|SLC39A11_ENST00000255559.3_Silent_p.I141I	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	141					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TACCTATCCGGATGGAAAGTT	0.547																																					NSCLC(95;736 1527 12296 39625 41839)	ENST00000542342.2																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(421-423)atC>atT		solute carrier family 39, member 11							131.0	118.0	123.0					17																	70943898		2203	4300	6503	SO:0001819	synonymous_variant	201266				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr17:70943898G>A	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.423C>T	17.37:g.70943898G>A						SLC39A11_ENST00000579732.1_Silent_p.I141I|SLC39A11_ENST00000255559.3_Silent_p.I141I	p.I141I	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN			5	511	-			141					B2R8H7|Q8WZ81	Silent	SNP	ENST00000542342.2	37	c.423C>T	CCDS54160.1																																																																																				0.547	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1			36	71	0	0	0	1	0	36	71				
C1orf162	128346	broad.mit.edu	37	1	112018679	112018679	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:112018679C>T	ENST00000343534.5	+	2	279	c.29C>T	c.(28-30)cCc>cTc	p.P10L	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.P10L	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	10						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACATGTAAACCCGACACTGGT	0.468																																						ENST00000343534.5																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(28-30)cCc>cTc		chromosome 1 open reading frame 162							77.0	73.0	74.0					1																	112018679		2203	4300	6503	SO:0001583	missense	128346					integral to membrane		g.chr1:112018679C>T	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.29C>T	1.37:g.112018679C>T	ENSP00000344218:p.Pro10Leu					C1orf162_ENST00000369718.3_Missense_Mutation_p.P10L|C1orf162_ENST00000464591.1_3'UTR	p.P10L	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	279	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	10					Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	c.29C>T	CCDS837.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629310	0.46944	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	T;T	0.49432	0.78;0.79	4.44	1.23	0.21249	.	2.129670	0.01944	N	0.042147	T	0.20210	0.0486	L	0.27053	0.805	0.09310	N	1	D	0.54047	0.964	B	0.43103	0.408	T	0.16571	-1.0398	10	0.87932	D	0	0.0957	7.0976	0.25319	0.4181:0.4242:0.1577:0.0	.	10	Q8NEQ5	CA162_HUMAN	L	10	ENSP00000344218:P10L;ENSP00000358732:P10L	ENSP00000344218:P10L	P	+	2	0	C1orf162	111820202	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.180000	0.16860	0.258000	0.21686	0.655000	0.94253	CCC		0.468	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		12	34	0	0	0	1	0	12	34				
MED13L	23389	broad.mit.edu	37	12	116409886	116409886	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:116409886G>A	ENST00000281928.3	-	26	6093	c.5887C>T	c.(5887-5889)Cca>Tca	p.P1963S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1963						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AATTTACCTGGCATCACTACA	0.458																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5887-5889)Cca>Tca		mediator complex subunit 13-like							71.0	67.0	69.0					12																	116409886		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116409886G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5887C>T	12.37:g.116409886G>A	ENSP00000281928:p.Pro1963Ser						p.P1963S	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	26	6093	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1963					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5887C>T	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.047449|5.047449	0.93740|0.93740	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000552447|ENST00000281928	.|D	.|0.83163	.|-1.69	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90611|0.90611	0.7056|0.7056	M|M	0.71296|0.71296	2.17|2.17	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.91298|0.91298	0.5064|0.5064	5|10	.|0.66056	.|D	.|0.02	.|.	18.3625|18.3625	0.90379|0.90379	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1963	.|Q71F56	.|MD13L_HUMAN	V|S	167|1963	.|ENSP00000281928:P1963S	.|ENSP00000281928:P1963S	A|P	-|-	2|1	0|0	MED13L|MED13L	114894269|114894269	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.263000|9.263000	0.95617|0.95617	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.458	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			14	21	0	0	0	1	0	14	21				
SOX2	6657	broad.mit.edu	37	3	181430702	181430702	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:181430702G>A	ENST00000325404.1	+	1	981	c.554G>A	c.(553-555)gGc>gAc	p.G185D	SOX2_ENST00000431565.2_Missense_Mutation_p.G185D	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	185					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CAGCACCCGGGCCTCAATGCG	0.632			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															ENST00000325404.1				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"""NSCLC, oesophageal squamous carcinoma"""		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(553-555)gGc>gAc		SRY (sex determining region Y)-box 2							28.0	27.0	27.0					3																	181430702		2201	4299	6500	SO:0001583	missense	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430702G>A	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.554G>A	3.37:g.181430702G>A	ENSP00000323588:p.Gly185Asp					SOX2_ENST00000431565.2_Missense_Mutation_p.G185D	p.G185D	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	981	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		185					Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	c.554G>A	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540348	0.45176	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.86030	-2.06;-2.06	5.27	5.27	0.74061	.	0.063246	0.08080	U	1.000000	D	0.86121	0.5857	L	0.60455	1.87	0.58432	D	0.999999	B	0.15719	0.014	B	0.24269	0.052	T	0.73421	-0.3988	10	0.41790	T	0.15	.	18.2495	0.89997	0.0:0.0:1.0:0.0	.	185	P48431	SOX2_HUMAN	D	185	ENSP00000439111:G185D;ENSP00000323588:G185D	ENSP00000323588:G185D	G	+	2	0	SOX2	182913396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.272000	0.72575	2.602000	0.87976	0.591000	0.81541	GGC		0.632	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		4	25	0	0	0	1	0	4	25				
HSPA14	51182	broad.mit.edu	37	10	14909805	14909805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:14909805G>A	ENST00000378372.3	+	12	1516	c.1277G>A	c.(1276-1278)aGa>aAa	p.R426K		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	426					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CCAGCTCGAAGACAACACACA	0.483																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(1276-1278)aGa>aAa		heat shock 70kDa protein 14							135.0	120.0	125.0					10																	14909805		2203	4300	6503	SO:0001583	missense	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14909805G>A	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1277G>A	10.37:g.14909805G>A	ENSP00000367623:p.Arg426Lys						p.R426K	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN			12	1516	+			426					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.1277G>A	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800893	0.31869	.	.	ENSG00000187522	ENST00000378372	T	0.03663	3.85	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.03263	0.0095	N	0.05510	-0.035	0.80722	D	1	P	0.34934	0.476	B	0.32393	0.145	T	0.59380	-0.7465	10	0.54805	T	0.06	-28.9687	20.3368	0.98748	0.0:0.0:1.0:0.0	.	426	Q0VDF9	HSP7E_HUMAN	K	426	ENSP00000367623:R426K	ENSP00000367623:R426K	R	+	2	0	HSPA14	14949811	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	8.172000	0.89677	2.805000	0.96524	0.655000	0.94253	AGA		0.483	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		5	112	0	0	0	1	0	5	112				
ABAT	18	broad.mit.edu	37	16	8868781	8868781	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:8868781C>T	ENST00000396600.2	+	13	1927	c.989C>T	c.(988-990)aCc>aTc	p.T330I	ABAT_ENST00000569156.1_Missense_Mutation_p.T330I|ABAT_ENST00000567812.1_Missense_Mutation_p.T345I|ABAT_ENST00000425191.2_Missense_Mutation_p.T330I|ABAT_ENST00000268251.8_Missense_Mutation_p.T330I	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	330					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GAGGTCCAGACCGGAGGAGGC	0.602																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(988-990)aCc>aTc		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						61.0	58.0	59.0					16																	8868781		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8868781C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.989C>T	16.37:g.8868781C>T	ENSP00000379845:p.Thr330Ile					ABAT_ENST00000425191.2_Missense_Mutation_p.T330I|ABAT_ENST00000567812.1_Missense_Mutation_p.T345I|ABAT_ENST00000268251.8_Missense_Mutation_p.T330I|ABAT_ENST00000569156.1_Missense_Mutation_p.T330I	p.T330I	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			13	1927	+			330					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.989C>T	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870729	0.91587	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.90620	-2.7;-2.7;-2.7	5.79	5.79	0.91817	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98490	1.0609	10	0.87932	D	0	-18.7998	19.0289	0.92946	0.0:1.0:0.0:0.0	.	330	P80404	GABT_HUMAN	I	330	ENSP00000268251:T330I;ENSP00000379845:T330I;ENSP00000411916:T330I	ENSP00000268251:T330I	T	+	2	0	ABAT	8776282	1.000000	0.71417	0.964000	0.40570	0.820000	0.46376	7.695000	0.84257	2.746000	0.94184	0.561000	0.74099	ACC		0.602	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		34	60	0	0	0	1	0	34	60				
ACTN1	87	broad.mit.edu	37	14	69347566	69347566	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:69347566C>T	ENST00000193403.6	-	17	2477	c.2094G>A	c.(2092-2094)gcG>gcA	p.A698A	ACTN1_ENST00000376839.3_Silent_p.A633A|ACTN1_ENST00000438964.2_Silent_p.A698A|ACTN1_ENST00000394419.4_Silent_p.A698A|ACTN1_ENST00000538545.2_Silent_p.A698A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	698	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.A698A(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)		CGAAGATGAGCGCCTCCTGGA	0.582																																						ENST00000193403.6																			1	Substitution - coding silent(1)	p.A698A(1)	lung(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						c.(2092-2094)gcG>gcA		actinin, alpha 1							159.0	131.0	141.0					14																	69347566		2203	4300	6503	SO:0001819	synonymous_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69347566C>T	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.2094G>A	14.37:g.69347566C>T						ACTN1_ENST00000376839.3_Silent_p.A633A|ACTN1_ENST00000538545.2_Silent_p.A698A|ACTN1_ENST00000438964.2_Silent_p.A698A|ACTN1_ENST00000394419.4_Silent_p.A698A	p.A698A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	17	2477	-			698			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.2094G>A	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.514|8.514	0.867196|0.867196	0.17250|0.17250	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000553290|ENST00000555075	T|.	0.52526|.	0.66|.	4.85|4.85	-9.71|-9.71	0.00518|0.00518	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33030|0.33030	0.0849|0.0849	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39643|0.39643	-0.9604|-0.9604	6|4	.|.	.|.	.|.	.|.	1.6367|1.6367	0.02743|0.02743	0.209:0.1572:0.1965:0.4373|0.209:0.1572:0.1965:0.4373	.|.	.|.	.|.	.|.	T|H	138|84	ENSP00000450625:A138T|.	.|.	A|R	-|-	1|2	0|0	ACTN1|ACTN1	68417319|68417319	0.000000|0.000000	0.05858|0.05858	0.165000|0.165000	0.22776|0.22776	0.980000|0.980000	0.70556|0.70556	-7.784000|-7.784000	0.00030|0.00030	-2.492000|-2.492000	0.00516|0.00516	-0.742000|-0.742000	0.03525|0.03525	GCT|CGC		0.582	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		17	75	0	0	0	1	0	17	75				
SPATA5L1	79029	broad.mit.edu	37	15	45694634	45694634	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:45694634C>T	ENST00000305560.6	+	1	106	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.P3S|GATM_ENST00000458245.5_5'Flank	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	3						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGCGATGGCTCCGGACTCGGA	0.632																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(7-9)Ccg>Tcg		spermatogenesis associated 5-like 1							49.0	44.0	46.0					15																	45694634		2195	4297	6492	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45694634C>T	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.7C>T	15.37:g.45694634C>T	ENSP00000305494:p.Pro3Ser					SPATA5L1_ENST00000559860.1_Missense_Mutation_p.P3S	p.P3S	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	106	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	3					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.7C>T	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	C	9.332	1.060905	0.19987	.	.	ENSG00000171763	ENST00000305560	D	0.93763	-3.28	4.88	3.94	0.45596	.	0.598445	0.16184	N	0.225712	D	0.90342	0.6978	M	0.63428	1.95	0.22803	N	0.998716	B	0.06786	0.001	B	0.09377	0.004	T	0.82063	-0.0643	10	0.42905	T	0.14	-8.4562	7.4211	0.27073	0.1843:0.7272:0.0:0.0884	.	3	Q9BVQ7	SPA5L_HUMAN	S	3	ENSP00000305494:P3S	ENSP00000305494:P3S	P	+	1	0	SPATA5L1	43481926	0.016000	0.18221	0.698000	0.30274	0.032000	0.12392	-0.141000	0.10327	1.217000	0.43442	0.563000	0.77884	CCG		0.632	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		8	22	0	0	0	1	0	8	22				
USP31	57478	broad.mit.edu	37	16	23079992	23079992	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:23079992C>T	ENST00000219689.7	-	16	3433	c.3434G>A	c.(3433-3435)gGg>gAg	p.G1145E	USP31_ENST00000567975.1_Missense_Mutation_p.G438E	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			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)		CCTGCTCTTCCCAGGTGGGAA	0.587																																						ENST00000219689.7																			0				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						c.(3433-3435)gGg>gAg		ubiquitin specific peptidase 31							63.0	66.0	65.0					16																	23079992		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23079992C>T	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.3434G>A	16.37:g.23079992C>T	ENSP00000219689:p.Gly1145Glu					USP31_ENST00000567975.1_Missense_Mutation_p.G438E	p.G1145E	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3433	-			1145			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3434G>A	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298723	0.60195	.	.	ENSG00000103404	ENST00000219689	T	0.13089	2.62	5.8	4.83	0.62350	.	1.072300	0.07230	N	0.862360	T	0.28001	0.0690	L	0.29908	0.895	0.53688	D	0.999972	D;D	0.63046	0.961;0.992	P;P	0.62298	0.541;0.9	T	0.00761	-1.1577	10	0.62326	D	0.03	-10.9442	15.1963	0.73092	0.1418:0.8582:0.0:0.0	.	1145;438	Q70CQ4;B3KS48	UBP31_HUMAN;.	E	1145	ENSP00000219689:G1145E	ENSP00000219689:G1145E	G	-	2	0	USP31	22987493	1.000000	0.71417	0.995000	0.50966	0.892000	0.51952	3.598000	0.54038	1.408000	0.46895	0.655000	0.94253	GGG		0.587	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		4	64	0	0	0	1	0	4	64				
ZW10	9183	broad.mit.edu	37	11	113607421	113607421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113607421G>A	ENST00000200135.3	-	15	2284	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	714					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.P714S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		ACATAGACTGGAACCTCTTCT	0.393																																						ENST00000200135.3																			1	Substitution - Missense(1)	p.P714S(1)	central_nervous_system(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(2140-2142)Cca>Tca		zw10 kinetochore protein							349.0	318.0	329.0					11																	113607421		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113607421G>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2140C>T	11.37:g.113607421G>A	ENSP00000200135:p.Pro714Ser						p.P714S	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	15	2284	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	714					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.2140C>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506702	0.64410	.	.	ENSG00000086827	ENST00000200135	T	0.49432	0.78	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	L	0.53249	1.67	0.80722	D	1	B	0.18310	0.027	B	0.17098	0.017	T	0.40059	-0.9583	10	0.12766	T	0.61	-11.6366	20.5568	0.99304	0.0:0.0:1.0:0.0	.	714	O43264	ZW10_HUMAN	S	714	ENSP00000200135:P714S	ENSP00000200135:P714S	P	-	1	0	ZW10	113112631	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	CCA		0.393	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		47	120	0	0	0	1	0	47	120				
MUC17	140453	broad.mit.edu	37	7	100683836	100683836	+	Missense_Mutation	SNP	C	C	T	rs370948474		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100683836C>T	ENST00000306151.4	+	3	9203	c.9139C>T	c.(9139-9141)Cca>Tca	p.P3047S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3047	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGTACTCCATTAACAAG	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9139-9141)Cca>Tca		mucin 17, cell surface associated		C	SER/PRO	0,4406		0,0,2203	269.0	281.0	277.0		9139	-1.3	0.0	7		277	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3047/4494	100683836	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683836C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9139C>T	7.37:g.100683836C>T	ENSP00000302716:p.Pro3047Ser						p.P3047S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9203	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3047			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9139C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	3.484	-0.105223	0.06967	0.0	1.16E-4	ENSG00000169876	ENST00000306151	T	0.06608	3.28	0.664	-1.33	0.09172	.	.	.	.	.	T	0.06508	0.0167	N	0.24115	0.695	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.14090	-1.0485	9	0.08179	T	0.78	.	2.8477	0.05548	0.0:0.3621:0.2522:0.3858	.	3047	Q685J3	MUC17_HUMAN	S	3047	ENSP00000302716:P3047S	ENSP00000302716:P3047S	P	+	1	0	MUC17	100470556	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.518000	0.02246	-0.870000	0.04047	0.121000	0.15741	CCA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		30	676	0	0	0	1	0	30	676				
FANCD2	2177	broad.mit.edu	37	3	10133909	10133909	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:10133909C>T	ENST00000419585.1	+	38	3983	c.3822C>T	c.(3820-3822)gaC>gaT	p.D1274D	FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Silent_p.D1274D|FANCD2_ENST00000383806.1_Missense_Mutation_p.T1243I|FANCD2_ENST00000287647.3_Silent_p.D1274D			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1274					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CTGTTCGAGACTTCAGTATCC	0.448			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000383806.1			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3727-3729)aCt>aTt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							177.0	179.0	178.0					3																	10133909		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10133909C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3822C>T	3.37:g.10133909C>T						FANCD2_ENST00000287647.3_Silent_p.D1274D|FANCD2_ENST00000419585.1_Silent_p.D1274D|FANCD2_ENST00000383807.1_Silent_p.D1274D|FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron	p.T1243I			Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	37	3806	+			0					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3728C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718902	0.30503	.	.	ENSG00000144554	ENST00000383806	T	0.39787	1.06	5.57	3.41	0.39046	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53718	-0.8399	6	0.87932	D	0	.	8.2021	0.31430	0.0:0.7312:0.0:0.2688	.	.	.	.	I	1243	ENSP00000373317:T1243I	ENSP00000373317:T1243I	T	+	2	0	FANCD2	10108909	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.316000	0.19469	1.335000	0.45486	0.555000	0.69702	ACT		0.448	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			5	164	0	0	0	1	0	5	164				
AZGP1	563	broad.mit.edu	37	7	99564721	99564721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99564721C>T	ENST00000292401.4	-	4	938	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	268	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGCACTGCCACCACCACCCAG	0.637																																						ENST00000292401.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(802-804)Gtg>Atg		alpha-2-glycoprotein 1, zinc-binding							72.0	55.0	61.0					7																	99564721		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564721C>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.802G>A	7.37:g.99564721C>T	ENSP00000292401:p.Val268Met					AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	p.V268M	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN			4	938	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		268			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.802G>A	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290746	0.40494	.	.	ENSG00000160862	ENST00000292401	T	0.03212	4.01	2.17	0.12	0.14691	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.028280	0.07858	N	0.965890	T	0.04998	0.0134	L	0.59967	1.855	0.28482	N	0.914886	P	0.40638	0.725	B	0.36989	0.238	T	0.34153	-0.9840	10	0.87932	D	0	.	6.1366	0.20237	0.0:0.6909:0.0:0.3091	.	268	P25311	ZA2G_HUMAN	M	268	ENSP00000292401:V268M	ENSP00000292401:V268M	V	-	1	0	AZGP1	99402657	0.000000	0.05858	0.476000	0.27291	0.071000	0.16799	-1.497000	0.02289	-0.173000	0.10761	0.313000	0.20887	GTG		0.637	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		6	85	0	0	0	1	0	6	85				
CELSR3	1951	broad.mit.edu	37	3	48699564	48699564	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48699564G>A	ENST00000164024.4	-	1	784	c.504C>T	c.(502-504)agC>agT	p.S168S	CELSR3_ENST00000544264.1_Silent_p.S168S|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	168					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAGGGGCGAGCTGTTCCCCG	0.652																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(502-504)agC>agT		cadherin, EGF LAG seven-pass G-type receptor 3							45.0	55.0	51.0					3																	48699564		2203	4299	6502	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699564G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.504C>T	3.37:g.48699564G>A						CELSR3_ENST00000164024.4_Silent_p.S168S	p.S168S			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	784	-			168					O75092	Silent	SNP	ENST00000164024.4	37	c.504C>T	CCDS2775.1																																																																																				0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	118	0	0	0	1	0	4	118				
PCDHA11	56138	broad.mit.edu	37	5	140249079	140249079	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140249079C>T	ENST00000398640.2	+	1	391	c.391C>T	c.(391-393)Ccg>Tcg	p.P131S	PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAACCCGCCGGTGTTCTC	0.542																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(391-393)Ccg>Tcg									104.0	119.0	114.0					5																	140249079		2203	4300	6503	SO:0001583	missense	0							g.chr5:140249079C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.391C>T	5.37:g.140249079C>T	ENSP00000381636:p.Pro131Ser					PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.P131S	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	391	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.391C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838221	0.71373	.	.	ENSG00000249158	ENST00000398640	T	0.81415	-1.49	5.59	5.59	0.84812	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.94958	0.8369	H	0.99498	4.595	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97092	0.9791	9	0.87932	D	0	.	19.5993	0.95554	0.0:1.0:0.0:0.0	.	131;131	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	131	ENSP00000381636:P131S	ENSP00000381636:P131S	P	+	1	0	PCDHA11	140229263	1.000000	0.71417	0.988000	0.46212	0.507000	0.33981	7.606000	0.82863	2.628000	0.89032	0.655000	0.94253	CCG		0.542	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		5	193	0	0	0	1	0	5	193				
LIPH	200879	broad.mit.edu	37	3	185229311	185229311	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:185229311C>T	ENST00000296252.4	-	9	1410		c.e9+1		LIPH_ENST00000424591.2_Splice_Site	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H						lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCTCAGCTCACCTCTCCGGAT	0.453																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.e9+1		lipase, member H							94.0	90.0	91.0					3																	185229311		2203	4300	6503	SO:0001630	splice_region_variant	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185229311C>T	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1268+1G>A	3.37:g.185229311C>T						LIPH_ENST00000424591.2_Splice_Site		NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		9	1410	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)							A2IBA7|Q8TEC7	Splice_Site	SNP	ENST00000296252.4	37		CCDS3272.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421731	0.43020	.	.	ENSG00000163898	ENST00000296252;ENST00000424591;ENST00000435679	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.102	0.89508	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIPH	186712005	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	5.556000	0.67307	2.689000	0.91719	0.563000	0.77884	.		0.453	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1		Intron	19	43	0	0	0	1	0	19	43				
SMAD3	4088	broad.mit.edu	37	15	67473681	67473681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:67473681C>T	ENST00000327367.4	+	6	1071	c.761C>T	c.(760-762)tCc>tTc	p.S254F	SMAD3_ENST00000540846.2_Missense_Mutation_p.S149F|SMAD3_ENST00000537194.2_Missense_Mutation_p.S59F|SMAD3_ENST00000439724.3_Missense_Mutation_p.S210F	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	254	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCGCAGCCATCCATGACTGTG	0.602																																						ENST00000327367.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(760-762)tCc>tTc		SMAD family member 3							76.0	66.0	69.0					15																	67473681		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67473681C>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.761C>T	15.37:g.67473681C>T	ENSP00000332973:p.Ser254Phe					SMAD3_ENST00000540846.2_Missense_Mutation_p.S149F|SMAD3_ENST00000537194.2_Missense_Mutation_p.S59F|SMAD3_ENST00000439724.3_Missense_Mutation_p.S210F	p.S254F	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	6	1071	+			254			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.761C>T	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023168	0.93462	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31	5.1	5.1	0.69264	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98997	1.0810	10	0.56958	D	0.05	.	18.8753	0.92332	0.0:1.0:0.0:0.0	.	210;254	B7Z4Z5;P84022	.;SMAD3_HUMAN	F	254;254;149;210;59	ENSP00000332973:S254F;ENSP00000437757:S149F;ENSP00000401133:S210F;ENSP00000445348:S59F	ENSP00000332973:S254F	S	+	2	0	SMAD3	65260735	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	7.675000	0.84002	2.515000	0.84797	0.555000	0.69702	TCC		0.602	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		23	36	0	0	0	1	0	23	36				
DNMBP	23268	broad.mit.edu	37	10	101636912	101636912	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101636912G>A	ENST00000324109.4	-	17	4821	c.4730C>T	c.(4729-4731)aCc>aTc	p.T1577I	DNMBP_ENST00000540316.1_Missense_Mutation_p.T513I|DNMBP_ENST00000342239.3_Missense_Mutation_p.T1601I|DNMBP_ENST00000543621.1_Missense_Mutation_p.T823I	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1577					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTGGGCTCAGGTGTACTCGGT	0.557																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4801-4803)aCc>aTc		dynamin binding protein							148.0	105.0	119.0					10																	101636912		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101636912G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4730C>T	10.37:g.101636912G>A	ENSP00000315659:p.Thr1577Ile					DNMBP_ENST00000324109.4_Missense_Mutation_p.T1577I|DNMBP_ENST00000540316.1_Missense_Mutation_p.T513I|DNMBP_ENST00000543621.1_Missense_Mutation_p.T823I	p.T1601I			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	17	4893	-		Colorectal(252;0.234)	1577					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.4802C>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858614	0.71834	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.48522	2.11;2.05;1.99;0.81	5.08	5.08	0.68730	.	0.000000	0.49916	D	0.000132	T	0.68723	0.3032	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.72070	-0.4401	10	0.87932	D	0	-19.7383	18.8425	0.92189	0.0:0.0:1.0:0.0	.	1577;823;1601	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	I	1601;1577;823;823;513	ENSP00000344914:T1601I;ENSP00000315659:T1577I;ENSP00000443657:T823I;ENSP00000443573:T513I	ENSP00000315659:T1577I	T	-	2	0	DNMBP	101626902	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	9.504000	0.97986	2.512000	0.84698	0.561000	0.74099	ACC		0.557	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		32	56	0	0	0	1	0	32	56				
TMEM9	252839	broad.mit.edu	37	1	201120894	201120894	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201120894C>T	ENST00000367330.1	-	2	669	c.153G>A	c.(151-153)aaG>aaA	p.K51K	TMEM9_ENST00000367332.1_Silent_p.K54K|TMEM9_ENST00000367334.5_Silent_p.K51K|TMEM9_ENST00000367333.2_Silent_p.K51K|TMEM9_ENST00000485839.2_Silent_p.K51K			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	51					transport (GO:0006810)	integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				CTTACCAGTCCTTCTGGGATA	0.468																																						ENST00000367330.1																			0				liver(1)|lung(1)|stomach(1)	3						c.(151-153)aaG>aaA		transmembrane protein 9							200.0	193.0	195.0					1																	201120894		2203	4300	6503	SO:0001819	synonymous_variant	252839				transport	integral to membrane|late endosome membrane|lysosomal membrane		g.chr1:201120894C>T		CCDS1408.1, CCDS73001.1	1q41	2008-02-05			ENSG00000116857	ENSG00000116857			18823	protein-coding gene	gene with protein product							Standard	NM_001288565		Approved	TMEM9A	uc001gvy.3	Q9P0T7	OTTHUMG00000035831	ENST00000367330.1:c.153G>A	1.37:g.201120894C>T						TMEM9_ENST00000367334.5_Silent_p.K51K|TMEM9_ENST00000367333.1_Silent_p.K54K|TMEM9_ENST00000367329.1_Silent_p.K51K|TMEM9_ENST00000367332.1_Silent_p.K54K	p.K51K			Q9P0T7	TMEM9_HUMAN			2	669	-		Breast(1374;0.000301)	51					B1ALM6|Q96NQ9|Q9BQF5	Silent	SNP	ENST00000367330.1	37	c.153G>A	CCDS1408.1																																																																																				0.468	TMEM9-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087160.1	NM_016456		11	219	0	0	0	1	0	11	219				
HMBS	3145	broad.mit.edu	37	11	118963883	118963883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118963883G>A	ENST00000278715.3	+	14	1127	c.976G>A	c.(976-978)Ggg>Agg	p.G326R	HMBS_ENST00000537841.1_Missense_Mutation_p.G309R|HMBS_ENST00000392841.1_Missense_Mutation_p.G309R|HMBS_ENST00000543090.1_Missense_Mutation_p.G295R|HMBS_ENST00000544387.1_Missense_Mutation_p.G286R|HMBS_ENST00000542729.1_Missense_Mutation_p.G269R|HMBS_ENST00000442944.2_Missense_Mutation_p.G309R	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	326					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CATTCCACGAGGGCCCCAGTT	0.537																																						ENST00000537841.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(925-927)Ggg>Agg		hydroxymethylbilane synthase							109.0	90.0	96.0					11																	118963883		2200	4295	6495	SO:0001583	missense	3145				peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118963883G>A	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.976G>A	11.37:g.118963883G>A	ENSP00000278715:p.Gly326Arg					HMBS_ENST00000544387.1_Missense_Mutation_p.G286R|HMBS_ENST00000392841.1_Missense_Mutation_p.G309R|HMBS_ENST00000442944.2_Missense_Mutation_p.G309R|HMBS_ENST00000542729.1_Missense_Mutation_p.G269R|HMBS_ENST00000543090.1_Missense_Mutation_p.G295R|HMBS_ENST00000278715.3_Missense_Mutation_p.G326R	p.G309R			P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	14	1216	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	326					A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	c.925G>A	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	g	14.48	2.546855	0.45383	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000542729;ENST00000544387;ENST00000543090;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D	0.99815	-6.9;-6.89;-6.59;-6.6;-6.81;-6.89;-6.89	5.35	2.39	0.29439	Porphobilinogen deaminase, C-terminal (2);	0.829436	0.11310	N	0.577206	D	0.99158	0.9709	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.25235	0.029;0.061;0.072;0.121	B;B;B;B	0.23574	0.031;0.043;0.047;0.032	D	0.97061	0.9771	10	0.87932	D	0	-0.0505	17.5955	0.88010	0.0:0.6742:0.3258:0.0	.	269;295;286;326	G3V1P4;F5H345;G5EA58;P08397	.;.;.;HEM3_HUMAN	R	326;309;269;286;295;309;309	ENSP00000278715:G326R;ENSP00000444730:G309R;ENSP00000443058:G269R;ENSP00000438424:G286R;ENSP00000445429:G295R;ENSP00000376584:G309R;ENSP00000392041:G309R	ENSP00000392041:G309R	G	+	1	0	CTD-2589C9.4;HMBS	118469093	0.001000	0.12720	0.946000	0.38457	0.948000	0.59901	1.073000	0.30691	0.357000	0.24183	0.651000	0.88453	GGG		0.537	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		25	48	0	0	0	1	0	25	48				
CNGB1	1258	broad.mit.edu	37	16	58001149	58001149	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:58001149C>T	ENST00000251102.8	-	2	102	c.42G>A	c.(40-42)ggG>ggA	p.G14G	CNGB1_ENST00000311183.4_Silent_p.G14G|CNGB1_ENST00000564448.1_Silent_p.G14G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	14					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCCGAGGGGTCCCTGGGGGCT	0.612																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(40-42)ggG>ggA		cyclic nucleotide gated channel beta 1							68.0	70.0	69.0					16																	58001149		1940	4137	6077	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:58001149C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.42G>A	16.37:g.58001149C>T						CNGB1_ENST00000311183.4_Silent_p.G14G|CNGB1_ENST00000251102.8_Silent_p.G14G	p.G14G			Q14028	CNGB1_HUMAN			2	102	-			14					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.42G>A	CCDS42169.1																																																																																				0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		11	34	0	0	0	1	0	11	34				
NFATC2	4773	broad.mit.edu	37	20	50140566	50140566	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:50140566A>G	ENST00000396009.3	-	2	433	c.214T>C	c.(214-216)Tac>Cac	p.Y72H	NFATC2_ENST00000371564.3_Missense_Mutation_p.Y72H|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.Y52H|NFATC2_ENST00000414705.1_Missense_Mutation_p.Y52H	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	72					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGGGGCTGTATGGCTTGAGG	0.632																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(214-216)Tac>Cac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							44.0	50.0	48.0					20																	50140566		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140566A>G	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.214T>C	20.37:g.50140566A>G	ENSP00000379330:p.Tyr72His					NFATC2_ENST00000414705.1_Missense_Mutation_p.Y52H|NFATC2_ENST00000396009.3_Missense_Mutation_p.Y72H	p.Y72H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	433	-	Hepatocellular(150;0.248)		72					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.214T>C	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399664	0.42512	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.14266	2.52;2.52;2.53	5.1	5.1	0.69264	.	0.473933	0.23081	N	0.052142	T	0.07908	0.0198	N	0.08118	0	0.23287	N	0.997977	P;P;P;P	0.44195	0.681;0.828;0.681;0.731	B;B;B;B	0.40782	0.34;0.34;0.34;0.322	T	0.30765	-0.9967	10	0.13853	T	0.58	-8.9761	14.89	0.70600	1.0:0.0:0.0:0.0	.	52;52;72;72	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	72;72;52	ENSP00000360619:Y72H;ENSP00000379330:Y72H;ENSP00000396471:Y52H	ENSP00000360619:Y72H	Y	-	1	0	NFATC2	49573973	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	4.446000	0.60014	1.917000	0.55516	0.260000	0.18958	TAC		0.632	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		4	69	0	0	0	1	0	4	69				
LVRN	206338	broad.mit.edu	37	5	115351070	115351070	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:115351070C>T	ENST00000357872.4	+	17	2696	c.2572C>T	c.(2572-2574)Ctt>Ttt	p.L858F	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		858						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAAGATTCAACTTGCTTATGC	0.338																																						ENST00000357872.4																			0											c.(2572-2574)Ctt>Ttt									88.0	84.0	85.0					5																	115351070		2202	4300	6502	SO:0001583	missense	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115351070C>T																												ENST00000357872.4:c.2572C>T	5.37:g.115351070C>T	ENSP00000350541:p.Leu858Phe					AQPEP_ENST00000515454.1_3'UTR	p.L858F	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			17	2696	+			858					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2572C>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	7.592	0.670898	0.14776	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05649	3.41	5.95	1.9	0.25705	.	0.367495	0.22004	N	0.065969	T	0.11067	0.0270	M	0.87456	2.885	0.09310	N	1	B	0.33477	0.413	B	0.36186	0.219	T	0.14144	-1.0483	10	0.62326	D	0.03	.	4.3972	0.11369	0.16:0.559:0.0:0.281	.	858	Q6Q4G3	AMPQ_HUMAN	F	858;847	ENSP00000350541:L858F	ENSP00000350541:L858F	L	+	1	0	AC010282.1	115378969	0.001000	0.12720	0.004000	0.12327	0.032000	0.12392	-0.036000	0.12185	0.793000	0.33875	0.655000	0.94253	CTT		0.338	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			5	40	0	0	0	1	0	5	40				
HEBP1	50865	broad.mit.edu	37	12	13128306	13128306	+	Missense_Mutation	SNP	G	G	A	rs141261931	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:13128306G>A	ENST00000014930.4	-	4	664	c.506C>T	c.(505-507)aCg>aTg	p.T169M	HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	169					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GTCATAACCCGTGCAGAAGTA	0.572																																						ENST00000014930.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(505-507)aCg>aTg		heme binding protein 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	135.0	108.0	117.0		506	4.8	0.8	12	dbSNP_134	117	3,8597	3.0+/-9.4	0,3,4297	yes	missense	HEBP1	NM_015987.4	81	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	169/190	13128306	4,13002	2203	4300	6503	SO:0001583	missense	50865				circadian rhythm	extracellular region		g.chr12:13128306G>A	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.506C>T	12.37:g.13128306G>A	ENSP00000014930:p.Thr169Met					RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA	p.T169M	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	4	664	-		Prostate(47;0.183)	169					A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	37	c.506C>T	CCDS31749.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294536	0.40594	2.27E-4	3.49E-4	ENSG00000013583	ENST00000014930	T	0.21932	1.98	4.76	4.76	0.60689	Regulatory factor, effector, bacterial (1);	0.496802	0.24215	N	0.040485	T	0.18299	0.0439	L	0.35414	1.06	0.80722	D	1	D	0.59357	0.985	P	0.45794	0.493	T	0.00538	-1.1682	10	0.62326	D	0.03	-21.6596	8.4771	0.33021	0.0:0.1655:0.6635:0.171	.	169	Q9NRV9	HEBP1_HUMAN	M	169	ENSP00000014930:T169M	ENSP00000014930:T169M	T	-	2	0	HEBP1	13019573	0.972000	0.33761	0.811000	0.32455	0.186000	0.23388	3.121000	0.50438	2.625000	0.88918	0.655000	0.94253	ACG		0.572	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			4	77	0	0	0	1	0	4	77				
TTN	7273	broad.mit.edu	37	2	179641505	179641505	+	Missense_Mutation	SNP	C	C	T	rs181958102		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179641505C>T	ENST00000591111.1	-	28	5310	c.5086G>A	c.(5086-5088)Gac>Aac	p.D1696N	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D1650N|TTN_ENST00000589042.1_Missense_Mutation_p.D1696N|TTN_ENST00000460472.2_Missense_Mutation_p.D1650N|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D1650N|TTN_ENST00000342992.6_Missense_Mutation_p.D1696N|TTN_ENST00000360870.5_Missense_Mutation_p.D1696N			Q8WZ42	TITIN_HUMAN	titin	12526					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTTTGTCATAGAGATCA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		21087	0.001		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5086-5088)Gac>Aac		titin							91.0	84.0	86.0					2																	179641505		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641505C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5086G>A	2.37:g.179641505C>T	ENSP00000465570:p.Asp1696Asn					TTN_ENST00000591111.1_Missense_Mutation_p.D1696N|TTN_ENST00000342175.6_Missense_Mutation_p.D1650N|TTN_ENST00000360870.5_Missense_Mutation_p.D1696N|TTN_ENST00000460472.2_Missense_Mutation_p.D1650N|TTN_ENST00000359218.5_Missense_Mutation_p.D1650N|TTN_ENST00000342992.6_Missense_Mutation_p.D1696N	p.D1696N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5310	-			1450					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5086G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.10	2.433755	0.43224	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71103	-0.54;-0.17;-0.19;-0.29;-0.12	5.33	5.33	0.75918	Ribonuclease H-like (1);	.	.	.	.	T	0.77592	0.4153	L	0.27053	0.805	0.41235	D	0.986601	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.996;0.996;0.996;1.0	T	0.80876	-0.1186	9	0.87932	D	0	.	19.0298	0.92952	0.0:1.0:0.0:0.0	.	1650;1650;1650;1696;1696	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	1696;1650;1650;1650;1650;1696	ENSP00000343764:D1696N;ENSP00000434586:D1650N;ENSP00000340554:D1650N;ENSP00000352154:D1650N;ENSP00000354117:D1696N	ENSP00000340554:D1650N	D	-	1	0	TTN	179349750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	2.518000	0.84900	0.650000	0.86243	GAC		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	91	0	0	0	1	0	9	91				
EPHA1	2041	broad.mit.edu	37	7	143090806	143090806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:143090806G>A	ENST00000275815.3	-	16	2740	c.2654C>T	c.(2653-2655)gCc>gTc	p.A885V	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	885					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)			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)				GTGGGGGTTGGCAAGCAGTTG	0.587																																						ENST00000275815.3																			0				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						c.(2653-2655)gCc>gTc		EPH receptor A1							83.0	72.0	76.0					7																	143090806		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143090806G>A	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.2654C>T	7.37:g.143090806G>A	ENSP00000275815:p.Ala885Val						p.A885V	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			16	2740	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	885					A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2654C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414565	0.42817	.	.	ENSG00000146904	ENST00000275815	T	0.61859	0.07	5.16	2.21	0.28008	Protein kinase-like domain (1);	0.776598	0.11563	N	0.551558	T	0.47284	0.1437	L	0.36672	1.1	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.45877	-0.9231	10	0.72032	D	0.01	.	10.1929	0.43037	0.0:0.1259:0.4844:0.3897	.	885	P21709	EPHA1_HUMAN	V	885	ENSP00000275815:A885V	ENSP00000275815:A885V	A	-	2	0	EPHA1	142800928	0.000000	0.05858	0.580000	0.28601	0.871000	0.50021	0.628000	0.24522	0.741000	0.32674	-0.150000	0.13652	GCC		0.587	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			11	51	0	0	0	1	0	11	51				
RGPD4	285190	broad.mit.edu	37	2	108475922	108475922	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:108475922C>T	ENST00000408999.3	+	11	1623	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	RGPD4_ENST00000354986.4_Silent_p.L516L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	516					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCCGTTATGCCTGCCCCTTCC	0.388																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(1546-1548)Ctg>Ttg		RANBP2-like and GRIP domain containing 4							103.0	90.0	94.0					2																	108475922		692	1591	2283	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108475922C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1546C>T	2.37:g.108475922C>T						RGPD4_ENST00000354986.4_Silent_p.L516L	p.L516L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			11	1623	+			516					B9A029	Silent	SNP	ENST00000408999.3	37	c.1546C>T	CCDS46381.1																																																																																				0.388	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		19	497	0	0	0	1	0	19	497				
CTNNBIP1	56998	broad.mit.edu	37	1	9910785	9910785	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:9910785C>T	ENST00000377263.1	-	6	548	c.237G>A	c.(235-237)cgG>cgA	p.R79R	CTNNBIP1_ENST00000400904.3_Silent_p.R79R|RP11-84A14.5_ENST00000454104.1_RNA|CTNNBIP1_ENST00000537447.1_Silent_p.R79R|CTNNBIP1_ENST00000377256.1_Silent_p.R79R|CTNNBIP1_ENST00000377258.1_Silent_p.R79R	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	79					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCTACTGCCTCCGGTCTTCCG	0.612																																						ENST00000377263.1																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(235-237)cgG>cgA		catenin, beta interacting protein 1							139.0	126.0	130.0					1																	9910785		2203	4300	6503	SO:0001819	synonymous_variant	56998				anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding	g.chr1:9910785C>T	AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"""beta-catenin-interacting protein ICAT"", ""inhibitor of beta-catenin and Tcf-4"""	607758	"""catenin, beta-interacting protein 1"""			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.237G>A	1.37:g.9910785C>T						CTNNBIP1_ENST00000377258.1_Silent_p.R79R|CTNNBIP1_ENST00000400904.3_Silent_p.R79R|CTNNBIP1_ENST00000377256.1_Silent_p.R79R|CTNNBIP1_ENST00000537447.1_Silent_p.R79R	p.R79R	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	6	548	-		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	79					Q5T4V2	Silent	SNP	ENST00000377263.1	37	c.237G>A	CCDS106.1																																																																																				0.612	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005012.1	NM_020248		47	37	0	0	0	1	0	47	37				
FRG2DP	146481	broad.mit.edu	37	16	34712271	34712271	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:34712271G>A	ENST00000569028.2	-	0	1083																											CCCAGGCAAGGGATGGGCTTC	0.552																																						ENST00000569028.2																			0																																																			0							g.chr16:34712271G>A																													16.37:g.34712271G>A														0	1083	-									RNA	SNP	ENST00000569028.2	37																																																																																						0.552	RP11-80F22.9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431372.2			8	22	0	0	0	1	0	8	22				
TRIM32	22954	broad.mit.edu	37	9	119461956	119461956	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:119461956C>T	ENST00000450136.1	+	2	2096	c.1935C>T	c.(1933-1935)taC>taT	p.Y645Y	TRIM32_ENST00000373983.2_Silent_p.Y645Y|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	645					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TCTACAGCTACCATCTGAGAA	0.493																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1933-1935)taC>taT		tripartite motif containing 32							80.0	80.0	80.0					9																	119461956		2203	4300	6503	SO:0001819	synonymous_variant	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461956C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1935C>T	9.37:g.119461956C>T						ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.Y645Y|ASTN2_ENST00000361209.2_Intron	p.Y645Y	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	2096	+			645					Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.1935C>T	CCDS6817.1																																																																																				0.493	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		5	110	0	0	0	1	0	5	110				
PARK2	5071	broad.mit.edu	37	6	161781150	161781150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:161781150G>A	ENST00000366898.1	-	11	1357	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	PARK2_ENST00000366897.1_Missense_Mutation_p.P391S|PARK2_ENST00000366896.1_Missense_Mutation_p.P270S|PARK2_ENST00000338468.3_Missense_Mutation_p.P228S|PARK2_ENST00000366894.1_Missense_Mutation_p.P228S	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	419					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGGCAGCGGGGACAGGGCTTG	0.527																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1255-1257)Ccc>Tcc		parkin RBR E3 ubiquitin protein ligase							238.0	228.0	231.0					6																	161781150		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161781150G>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1255C>T	6.37:g.161781150G>A	ENSP00000355865:p.Pro419Ser					PARK2_ENST00000338468.3_Missense_Mutation_p.P228S|PARK2_ENST00000366894.1_Missense_Mutation_p.P228S|PARK2_ENST00000366896.1_Missense_Mutation_p.P270S|PARK2_ENST00000366897.1_Missense_Mutation_p.P391S	p.P419S	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	11	1357	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	419					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1255C>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188665	0.57909	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.0	5.0	0.66597	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.91168	0.7218	M	0.81614	2.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92458	0.5975	10	0.87932	D	0	.	15.2374	0.73441	0.0:0.0:1.0:0.0	.	270;391;419	Q5VVX3;Q5VVX4;O60260	.;.;PRKN2_HUMAN	S	419;391;270;228;228	ENSP00000355865:P419S;ENSP00000355863:P391S;ENSP00000355862:P270S;ENSP00000355860:P228S;ENSP00000343589:P228S	ENSP00000343589:P228S	P	-	1	0	PARK2	161701140	1.000000	0.71417	0.996000	0.52242	0.167000	0.22549	6.869000	0.75521	2.301000	0.77427	0.637000	0.83480	CCC		0.527	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			54	93	0	0	0	1	0	54	93				
RSG1	79363	broad.mit.edu	37	1	16559036	16559036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16559036G>A	ENST00000375599.3	-	4	915	c.496C>T	c.(496-498)Cct>Tct	p.P166S	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	166	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						ACGACACCAGGGGCCTCACCT	0.597																																						ENST00000375599.3																			0				large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(496-498)Cct>Tct		REM2 and RAB-like small GTPase 1							63.0	60.0	61.0					1																	16559036		2203	4300	6503	SO:0001583	missense	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16559036G>A	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.496C>T	1.37:g.16559036G>A	ENSP00000364749:p.Pro166Ser						p.P166S	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			4	915	-			166			Small GTPase-like.		Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	c.496C>T	CCDS171.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324638	0.41197	.	.	ENSG00000132881	ENST00000375599	T	0.64803	-0.12	5.61	5.61	0.85477	Mitochondrial Rho-like (1);	0.388726	0.25783	N	0.028339	T	0.52141	0.1716	L	0.42245	1.32	0.09310	N	0.999999	B	0.32128	0.357	B	0.34301	0.179	T	0.42103	-0.9471	10	0.10636	T	0.68	-14.7543	12.8066	0.57618	0.0:0.1643:0.8357:0.0	.	166	Q9BU20	RSG1_HUMAN	S	166	ENSP00000364749:P166S	ENSP00000364749:P166S	P	-	1	0	RSG1	16431623	1.000000	0.71417	0.333000	0.25482	0.254000	0.26022	2.753000	0.47524	2.652000	0.90054	0.655000	0.94253	CCT		0.597	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		18	28	0	0	0	1	0	18	28				
REPS1	85021	broad.mit.edu	37	6	139234077	139234077	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:139234077G>A	ENST00000450536.2	-	16	2370	c.1796C>T	c.(1795-1797)cCt>cTt	p.P599L	REPS1_ENST00000415951.2_Missense_Mutation_p.P572L|REPS1_ENST00000367663.4_Missense_Mutation_p.P572L|REPS1_ENST00000409812.2_Missense_Mutation_p.P508L|REPS1_ENST00000258062.5_Missense_Mutation_p.P598L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	599	Pro-rich.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGCACAGCAGGACCAGGAGC	0.468																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(1795-1797)cCt>cTt		RALBP1 associated Eps domain containing 1							71.0	63.0	66.0					6																	139234077		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139234077G>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1796C>T	6.37:g.139234077G>A	ENSP00000392065:p.Pro599Leu					REPS1_ENST00000409812.2_Missense_Mutation_p.P508L|REPS1_ENST00000415951.2_Missense_Mutation_p.P572L|REPS1_ENST00000258062.5_Missense_Mutation_p.P598L|REPS1_ENST00000367663.4_Missense_Mutation_p.P572L	p.P599L			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	16	2370	-			599			Pro-rich.		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.1796C>T		.	.	.	.	.	.	.	.	.	.	G	18.64	3.668385	0.67814	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	T;T;T;T;T;T	0.32515	1.48;1.46;1.49;1.45;1.48;1.45	6.07	6.07	0.98685	.	0.101518	0.64402	D	0.000001	T	0.20981	0.0505	L	0.40543	1.245	0.80722	D	1	P;P;B;P;B	0.39216	0.664;0.534;0.288;0.534;0.376	B;B;B;B;B	0.41894	0.369;0.203;0.22;0.203;0.154	T	0.01484	-1.1343	10	0.22706	T	0.39	-2.4005	19.6475	0.95784	0.0:0.0:1.0:0.0	.	598;547;508;599;572	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	L	599;572;557;508;598;572;547;122	ENSP00000392065:P599L;ENSP00000356635:P572L;ENSP00000434251:P557L;ENSP00000386699:P508L;ENSP00000258062:P598L;ENSP00000397941:P572L	ENSP00000258062:P598L	P	-	2	0	REPS1	139275770	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	6.498000	0.73679	2.885000	0.99019	0.655000	0.94253	CCT		0.468	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			10	19	0	0	0	1	0	10	19				
AVL9	23080	broad.mit.edu	37	7	32598912	32598912	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:32598912G>A	ENST00000318709.4	+	10	1272	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	AVL9_ENST00000404479.1_Missense_Mutation_p.G351R|AVL9_ENST00000409301.1_Missense_Mutation_p.G351R	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	351					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGAACAGCTGGGATCAGACCA	0.468																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1051-1053)Gga>Aga		AVL9 homolog (S. cerevisiase)							50.0	50.0	50.0					7																	32598912		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598912G>A	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.1051G>A	7.37:g.32598912G>A	ENSP00000315568:p.Gly351Arg					AVL9_ENST00000404479.1_Missense_Mutation_p.G351R|AVL9_ENST00000409301.1_Missense_Mutation_p.G351R	p.G351R	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			10	1272	+			351					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.1051G>A	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	7.439	0.640307	0.14386	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.43294	1.0;1.0;0.95;0.95	5.41	4.53	0.55603	.	0.342681	0.34088	N	0.004265	T	0.25121	0.0610	N	0.11427	0.14	0.09310	N	0.999998	B;B;B	0.26258	0.009;0.145;0.001	B;B;B	0.23574	0.007;0.047;0.007	T	0.13176	-1.0519	10	0.29301	T	0.29	-0.0458	14.2341	0.65913	0.0708:0.0:0.9292:0.0	.	351;351;351	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	R	351;351;351;351;282	ENSP00000315568:G351R;ENSP00000387011:G351R;ENSP00000385242:G351R;ENSP00000395134:G282R	ENSP00000315568:G351R	G	+	1	0	AVL9	32565437	0.475000	0.25894	0.200000	0.23457	0.404000	0.30871	3.078000	0.50096	1.537000	0.49254	-0.136000	0.14681	GGA		0.468	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		15	64	0	0	0	1	0	15	64				
BOLL	66037	broad.mit.edu	37	2	198636632	198636632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:198636632C>T	ENST00000392296.4	-	6	736	c.427G>A	c.(427-429)Ggt>Agt	p.G143S	BOLL_ENST00000433157.1_Missense_Mutation_p.G143S|BOLL_ENST00000430004.1_Missense_Mutation_p.G143S|BOLL_ENST00000321801.7_Missense_Mutation_p.G155S|BOLL_ENST00000282278.8_Missense_Mutation_p.G34S|AC011997.1_ENST00000409845.1_Silent_p.T71T	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	143					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TAAGCAACACCATTATGGTAA	0.338																																						ENST00000321801.7																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.(463-465)Ggt>Agt		boule-like RNA-binding protein							86.0	85.0	85.0					2																	198636632		2203	4299	6502	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198636632C>T		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.427G>A	2.37:g.198636632C>T	ENSP00000376116:p.Gly143Ser					BOLL_ENST00000282278.8_Missense_Mutation_p.G34S|BOLL_ENST00000433157.1_Missense_Mutation_p.G143S|BOLL_ENST00000392296.4_Missense_Mutation_p.G143S|AC011997.1_ENST00000409845.1_Silent_p.T71T|BOLL_ENST00000430004.1_Missense_Mutation_p.G143S	p.G155S	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN			6	1033	-			143					B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.463G>A	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753403	0.89753	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.35236	1.36;1.34;1.32;1.34	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000002	T	0.47857	0.1468	L	0.27053	0.805	0.45097	D	0.998114	D;P;D;D;P	0.89917	1.0;0.825;0.961;0.998;0.812	D;P;P;D;P	0.91635	0.999;0.646;0.794;0.959;0.699	T	0.52510	-0.8566	10	0.87932	D	0	-20.0261	15.8365	0.78801	0.0:1.0:0.0:0.0	.	34;149;155;143;149	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	S	143;143;155;34;143	ENSP00000397711:G143S;ENSP00000376116:G143S;ENSP00000314792:G155S;ENSP00000396099:G143S	ENSP00000282278:G34S	G	-	1	0	BOLL	198344877	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.413000	0.66399	2.337000	0.79520	0.563000	0.77884	GGT		0.338	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		20	36	0	0	0	1	0	20	36				
ZMYM4	9202	broad.mit.edu	37	1	35853162	35853162	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:35853162G>A	ENST00000314607.6	+	13	2300	c.2220G>A	c.(2218-2220)gaG>gaA	p.E740E	ZMYM4_ENST00000373297.2_Silent_p.E651E	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	740					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGTAAAGGAGACTGTTCGGT	0.338																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(2218-2220)gaG>gaA		zinc finger, MYM-type 4							131.0	140.0	137.0					1																	35853162		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35853162G>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2220G>A	1.37:g.35853162G>A						ZMYM4_ENST00000373297.2_Silent_p.E651E	p.E740E	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			13	2300	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	740					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.2220G>A	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	6.503	0.460996	0.12342	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	T	0.69196	0.3084	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67650	-0.5616	4	.	.	.	-13.1629	13.7703	0.63021	0.0:0.1536:0.8464:0.0	.	.	.	.	N	400	.	.	D	+	1	0	ZMYM4	35625749	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.766000	0.47629	2.498000	0.84270	0.655000	0.94253	GAC		0.338	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		8	101	0	0	0	1	0	8	101				
PHIP	55023	broad.mit.edu	37	6	79679837	79679837	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:79679837G>A	ENST00000275034.4	-	26	3218	c.3051C>T	c.(3049-3051)acC>acT	p.T1017T	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1017	Mediates interaction with IRS1. {ECO:0000250}.				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)			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)		GGCAGCAAAGGGTAGGTAATC	0.378																																						ENST00000275034.4																			0				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						c.(3049-3051)acC>acT		pleckstrin homology domain interacting protein							129.0	129.0	129.0					6																	79679837		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79679837G>A	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.3051C>T	6.37:g.79679837G>A						PHIP_ENST00000479165.1_5'UTR	p.T1017T	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	26	3218	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1017			Mediates interaction with IRS1 (By similarity).		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.3051C>T	CCDS4987.1																																																																																				0.378	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			42	58	0	0	0	1	0	42	58				
FAT2	2196	broad.mit.edu	37	5	150885468	150885468	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:150885468C>T	ENST00000261800.5	-	23	12720	c.12708G>A	c.(12706-12708)cgG>cgA	p.R4236R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4236					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGAGGTGCCCGCTTGTTTT	0.637																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12706-12708)cgG>cgA		FAT atypical cadherin 2							99.0	116.0	110.0					5																	150885468		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885468C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12708G>A	5.37:g.150885468C>T							p.R4236R	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12720	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4236					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.12708G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985439	0.18889	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.02	3.1	0.35709	.	.	.	.	.	T	0.57740	0.2074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50524	-0.8818	4	.	.	.	.	8.2258	0.31568	0.0:0.5706:0.0:0.4294	.	.	.	.	S	1009	.	.	G	-	1	0	FAT2	150865661	0.961000	0.32948	1.000000	0.80357	0.972000	0.66771	0.086000	0.14935	0.422000	0.26005	-0.367000	0.07326	GGC		0.637	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		44	139	0	0	0	1	0	44	139				
THEM4	117145	broad.mit.edu	37	1	151847404	151847404	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:151847404C>T	ENST00000368814.3	-	6	1032	c.683G>A	c.(682-684)aGc>aAc	p.S228N	THEM4_ENST00000477437.1_5'Flank	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	228					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TATAAATAAGCCTAAACAAAC	0.373																																						ENST00000368814.3																			0				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9						c.e6-1		thioesterase superfamily member 4							124.0	130.0	128.0					1																	151847404		2203	4300	6503	SO:0001630	splice_region_variant	117145				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		g.chr1:151847404C>T	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.683-1G>A	1.37:g.151847404C>T							p.S228_splice	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		6	1032	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		228					B2RBX2|Q96KR2	Splice_Site	SNP	ENST00000368814.3	37	c.682_splice	CCDS1006.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050994	0.36181	.	.	ENSG00000159445	ENST00000368814	T	0.23147	1.92	3.67	0.506	0.16961	.	1.515890	0.03822	N	0.267723	T	0.11410	0.0278	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30880	-0.9963	10	0.62326	D	0.03	.	6.6883	0.23158	0.1864:0.4226:0.391:0.0	.	228	Q5T1C6	THEM4_HUMAN	N	228	ENSP00000357804:S228N	ENSP00000357804:S228N	S	-	2	0	THEM4	150114028	0.615000	0.27026	0.951000	0.38953	0.967000	0.64934	0.321000	0.19558	0.118000	0.18165	0.655000	0.94253	AGC		0.373	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055	Missense_Mutation	5	80	0	0	0	1	0	5	80				
MPDU1	9526	broad.mit.edu	37	17	7487235	7487235	+	Missense_Mutation	SNP	C	C	T	rs368852905		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7487235C>T	ENST00000250124.6	+	1	271	c.55C>T	c.(55-57)Cct>Tct	p.P19S	AC113189.5_ENST00000572046.1_RNA|MPDU1_ENST00000582151.1_Missense_Mutation_p.P19S|MPDU1_ENST00000396501.4_Missense_Mutation_p.P19S|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000423172.2_Missense_Mutation_p.P19S	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	19					dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|oligosaccharide biosynthetic process (GO:0009312)|protein folding (GO:0006457)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						GATTCTTTTACCTGAGAAATG	0.542																																						ENST00000250124.6																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(55-57)Cct>Tct		mannose-P-dolichol utilization defect 1		C	SER/PRO	0,4406		0,0,2203	160.0	161.0	161.0		55	4.3	1.0	17		161	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPDU1	NM_004870.3	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	19/248	7487235	1,13005	2203	4300	6503	SO:0001583	missense	9526				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding	g.chr17:7487235C>T	AF038961	CCDS11115.1	17p13.1-p12	2008-07-03			ENSG00000129255	ENSG00000129255			7207	protein-coding gene	gene with protein product		604041				8663248, 9653160, 11733564	Standard	NM_004870		Approved	SL15, Lec35, PQLC5, CDGIf	uc002ghw.3	O75352	OTTHUMG00000108147	ENST00000250124.6:c.55C>T	17.37:g.7487235C>T	ENSP00000250124:p.Pro19Ser					MPDU1_ENST00000582151.1_Missense_Mutation_p.P19S|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000423172.2_Missense_Mutation_p.P19S|AC113189.5_ENST00000415124.1_RNA|MPDU1_ENST00000396501.4_Missense_Mutation_p.P19S	p.P19S	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN			1	271	+			19					B3KQP1|B4DT74|Q9BUU8	Missense_Mutation	SNP	ENST00000250124.6	37	c.55C>T	CCDS11115.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028875	0.75504	0.0	1.16E-4	ENSG00000129255	ENST00000250124;ENST00000396501;ENST00000301597;ENST00000423172;ENST00000359822	T;D;D;T	0.89485	-0.75;-2.52;-2.24;-1.33	5.25	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.88698	0.6507	L	0.38531	1.155	0.54753	D	0.999983	B;D;B	0.69078	0.226;0.997;0.047	B;P;B	0.61874	0.071;0.895;0.024	D	0.85590	0.1245	10	0.23891	T	0.37	-14.2327	9.9148	0.41427	0.0:0.908:0.0:0.092	.	19;19;19	B4DT74;B4DLH7;O75352	.;.;MPU1_HUMAN	S	19	ENSP00000250124:P19S;ENSP00000379758:P19S;ENSP00000414071:P19S;ENSP00000352876:P19S	ENSP00000250124:P19S	P	+	1	0	MPDU1	7427959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.416000	0.66417	1.591000	0.50007	0.655000	0.94253	CCT		0.542	MPDU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226950.4			56	130	0	0	0	1	0	56	130				
PKN3	29941	broad.mit.edu	37	9	131476583	131476583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:131476583C>T	ENST00000291906.4	+	11	1813	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	474	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AATCAGCCCCCCTAAAGGATG	0.647																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1420-1422)Cct>Tct		protein kinase N3							63.0	71.0	68.0					9																	131476583		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131476583C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1420C>T	9.37:g.131476583C>T	ENSP00000291906:p.Pro474Ser						p.P474S	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			11	1813	+			474			Pro-rich.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1420C>T	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545183	0.65198	.	.	ENSG00000160447	ENST00000291906	T	0.28069	1.63	5.15	5.15	0.70609	.	.	.	.	.	T	0.35307	0.0927	M	0.65498	2.005	0.80722	D	1	P	0.46706	0.883	B	0.44224	0.444	T	0.15009	-1.0452	9	0.12103	T	0.63	.	16.1287	0.81412	0.0:1.0:0.0:0.0	.	474	Q6P5Z2	PKN3_HUMAN	S	474	ENSP00000291906:P474S	ENSP00000291906:P474S	P	+	1	0	PKN3	130516404	0.990000	0.36364	0.989000	0.46669	0.325000	0.28411	3.022000	0.49659	2.401000	0.81631	0.563000	0.77884	CCT		0.647	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		8	183	0	0	0	1	0	8	183				
NTRK1	4914	broad.mit.edu	37	1	156851416	156851416	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156851416C>T	ENST00000524377.1	+	17	2414	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y	NTRK1_ENST00000392302.2_Silent_p.Y755Y|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000368196.3_Silent_p.Y785Y|NTRK1_ENST00000358660.3_Silent_p.Y788Y	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	791		Interaction with PLCG1.			activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTCCTGTCTACCTGGATGTCC	0.687			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2353-2355)taC>taT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						16.0	17.0	17.0					1																	156851416		2202	4295	6497	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156851416C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2373C>T	1.37:g.156851416C>T		TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Silent_p.Y791Y|NTRK1_ENST00000358660.3_Silent_p.Y788Y|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Silent_p.Y755Y	p.Y785Y	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			16	2475	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		791	QQRHSIKDVHARLQALAQAPPVYLDVLG -> SNATASRMC TPGCKPWPRHLLSTWMSWARGPAQGLGVVSRNTGACPQHPP (in Ref. 9; CAA27243).				B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.2355C>T	CCDS1161.1																																																																																				0.687	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		3	10	0	0	0	1	0	3	10				
MIER2	54531	broad.mit.edu	37	19	336113	336113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:336113G>A	ENST00000264819.4	-	2	80	c.70C>T	c.(70-72)Cca>Tca	p.P24S	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCCCCTGGGCACAGGCTG	0.652																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(70-72)Cca>Tca		mesoderm induction early response 1, family member 2							91.0	69.0	76.0					19																	336113		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:336113G>A	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.70C>T	19.37:g.336113G>A	ENSP00000264819:p.Pro24Ser					MIER2_ENST00000592722.1_5'UTR	p.P24S	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	80	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	24					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.70C>T	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778043	0.70107	.	.	ENSG00000105556	ENST00000264819	T	0.22539	1.95	5.68	2.41	0.29592	.	1.922440	0.03845	N	0.271388	T	0.43787	0.1263	M	0.63428	1.95	0.34029	D	0.653593	D	0.89917	1.0	D	0.83275	0.996	T	0.18650	-1.0330	10	0.87932	D	0	-12.9218	5.9078	0.19010	0.1576:0.0:0.6874:0.155	.	24	Q8N344	MIER2_HUMAN	S	24	ENSP00000264819:P24S	ENSP00000264819:P24S	P	-	1	0	MIER2	287113	1.000000	0.71417	0.255000	0.24374	0.972000	0.66771	2.956000	0.49129	0.746000	0.32786	0.561000	0.74099	CCA		0.652	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		5	41	0	0	0	1	0	5	41				
CUX1	1523	broad.mit.edu	37	7	101845385	101845385	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:101845385G>A	ENST00000292535.7	+	18	2846	c.2808G>A	c.(2806-2808)gaG>gaA	p.E936E	CUX1_ENST00000556210.1_Silent_p.E778E|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Silent_p.E914E|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000360264.3_Silent_p.E947E|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Silent_p.E880E|CUX1_ENST00000546411.2_Silent_p.E834E|CUX1_ENST00000425244.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	936					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)			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						AGCAGTACGAGGTCTACATGT	0.622																																						ENST00000360264.3																			0				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						c.(2839-2841)gaG>gaA		cut-like homeobox 1							113.0	114.0	114.0					7																	101845385		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845385G>A	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.2808G>A	7.37:g.101845385G>A						CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Silent_p.E914E|CUX1_ENST00000550008.2_Silent_p.E880E|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Silent_p.E834E|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Silent_p.E936E|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Silent_p.E778E|CUX1_ENST00000393824.3_Intron	p.E947E	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			18	2861	+			936					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.2841G>A	CCDS5721.1																																																																																				0.622	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		6	167	0	0	0	1	0	6	167				
SOAT1	6646	broad.mit.edu	37	1	179307020	179307020	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:179307020C>T	ENST00000367619.3	+	5	521	c.378C>T	c.(376-378)cgC>cgT	p.R126R	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Silent_p.R68R|SOAT1_ENST00000539888.1_Silent_p.R61R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	126					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGCAAGGCGCTCTCTCTTAG	0.299																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(376-378)cgC>cgT		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						78.0	77.0	77.0					1																	179307020		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179307020C>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.378C>T	1.37:g.179307020C>T						SOAT1_ENST00000540564.1_Silent_p.R68R|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Silent_p.R61R	p.R126R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			5	521	+			126					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	c.378C>T	CCDS1330.1																																																																																				0.299	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		5	38	0	0	0	1	0	5	38				
MCEE	84693	broad.mit.edu	37	2	71351533	71351533	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:71351533C>T	ENST00000244217.5	-	2	198	c.181G>A	c.(181-183)Gct>Act	p.A61T	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	61					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AATGCTGCAGCCTTTTCCAAA	0.478																																						ENST00000244217.5																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(181-183)Gct>Act		methylmalonyl CoA epimerase							107.0	116.0	113.0					2																	71351533		2203	4300	6503	SO:0001583	missense	84693				fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	g.chr2:71351533C>T	AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.181G>A	2.37:g.71351533C>T	ENSP00000244217:p.Ala61Thr						p.A61T	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN			2	198	-			61					Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	c.181G>A	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652597	0.67472	.	.	ENSG00000124370	ENST00000413592;ENST00000244217	T;T	0.71461	-0.57;-0.29	5.39	3.59	0.41128	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	M	0.80422	2.495	0.80722	D	1	D	0.67145	0.996	D	0.64144	0.922	T	0.80623	-0.1300	10	0.51188	T	0.08	-15.6742	9.9983	0.41913	0.0:0.8338:0.0:0.1662	.	61	Q96PE7	MCEE_HUMAN	T	17;61	ENSP00000391140:A17T;ENSP00000244217:A61T	ENSP00000244217:A61T	A	-	1	0	MCEE	71205041	1.000000	0.71417	0.073000	0.20177	0.386000	0.30323	4.295000	0.59049	0.761000	0.33130	0.650000	0.86243	GCT		0.478	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		8	146	0	0	0	1	0	8	146				
DGKI	9162	broad.mit.edu	37	7	137263015	137263015	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:137263015C>T	ENST00000288490.5	-	16	1699		c.e16+1		DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000424189.2_Splice_Site|DGKI_ENST00000453654.2_Splice_Site	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGTATACCTACCCCTGCATAG	0.308																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.e16+1		diacylglycerol kinase, iota							58.0	59.0	59.0					7																	137263015		2202	4298	6500	SO:0001630	splice_region_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137263015C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1698+1G>A	7.37:g.137263015C>T						DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000424189.2_Splice_Site|DGKI_ENST00000288490.5_Splice_Site				O75912	DGKI_HUMAN			16	1338	-								A4D1Q9|Q9NZ49	Splice_Site	SNP	ENST00000288490.5	37		CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508816	0.85282	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6041	0.91261	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKI	136913555	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.621000	0.83083	2.573000	0.86826	0.462000	0.41574	.		0.308	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	Intron	4	60	0	0	0	1	0	4	60				
EVPL	2125	broad.mit.edu	37	17	74006329	74006329	+	Missense_Mutation	SNP	C	C	T	rs377429965		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74006329C>T	ENST00000301607.3	-	22	3210	c.2957G>A	c.(2956-2958)cGg>cAg	p.R986Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R1008Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	986	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGGCCAGCCCGCCGCTTGCC	0.637																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2956-2958)cGg>cAg		envoplakin		C	GLN/ARG	0,4406		0,0,2203	39.0	44.0	42.0		2957	3.6	0.9	17		42	1,8599		0,1,4299	no	missense	EVPL	NM_001988.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	986/2034	74006329	1,13005	2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006329C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2957G>A	17.37:g.74006329C>T	ENSP00000301607:p.Arg986Gln					EVPL_ENST00000586740.1_Missense_Mutation_p.R1008Q	p.R986Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3210	-			986			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.2957G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280678	0.40294	0.0	1.16E-4	ENSG00000167880	ENST00000301607	T	0.67523	-0.27	4.57	3.6	0.41247	.	0.061993	0.64402	N	0.000008	T	0.54111	0.1838	L	0.48362	1.52	0.40283	D	0.97841	P;P	0.39131	0.661;0.462	B;B	0.27170	0.077;0.052	T	0.60255	-0.7299	10	0.59425	D	0.04	-29.7487	12.9207	0.58230	0.0:0.9202:0.0:0.0797	.	1008;986	B7ZLH8;Q92817	.;EVPL_HUMAN	Q	986	ENSP00000301607:R986Q	ENSP00000301607:R986Q	R	-	2	0	EVPL	71517924	0.988000	0.35896	0.851000	0.33527	0.445000	0.32107	2.713000	0.47194	1.045000	0.40225	0.491000	0.48974	CGG		0.637	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		3	64	0	0	0	1	0	3	64				
PYGM	5837	broad.mit.edu	37	11	64519462	64519462	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64519462C>T	ENST00000164139.3	-	14	2100	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	PYGM_ENST00000377432.3_Missense_Mutation_p.V480M|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	568					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCCGCTTCACCTGGATGTCG	0.512																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1702-1704)Gtg>Atg		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						219.0	185.0	196.0					11																	64519462		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519462C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1702G>A	11.37:g.64519462C>T	ENSP00000164139:p.Val568Met					PYGM_ENST00000377432.3_Missense_Mutation_p.V480M|PYGM_ENST00000462303.1_5'UTR	p.V568M	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			14	2100	-			568					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1702G>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071190	0.93950	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.95788	-3.62;-3.81	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000098	D	0.98723	0.9571	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99564	1.0969	10	0.87932	D	0	-30.1928	17.3513	0.87324	0.0:1.0:0.0:0.0	.	480;568	A6NDY6;P11217	.;PYGM_HUMAN	M	480;568;549	ENSP00000366650:V480M;ENSP00000164139:V568M	ENSP00000164139:V568M	V	-	1	0	PYGM	64276038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.783000	0.85696	2.698000	0.92095	0.561000	0.74099	GTG		0.512	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		5	98	0	0	0	1	0	5	98				
ATP5I	521	broad.mit.edu	37	4	668018	668018	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:668018C>T	ENST00000304312.4	-	1	109	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	MYL5_ENST00000505477.1_Intron|MYL5_ENST00000506838.1_5'UTR|ATP5I_ENST00000506525.1_5'Flank|MYL5_ENST00000511290.1_5'Flank	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E	7					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2						AGCGGAGAGACCTGCACCGGT	0.677																																						ENST00000304312.4																			0				lung(1)|skin(1)	2						c.(19-21)Gtc>Atc		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E							58.0	47.0	51.0					4																	668018		2202	4299	6501	SO:0001583	missense	521				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr4:668018C>T	AB028624	CCDS3337.1	4p16.3	2012-10-12	2010-06-11		ENSG00000169020	ENSG00000169020		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	846	protein-coding gene	gene with protein product		601519	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E"""			8702853	Standard	NM_007100		Approved		uc003gas.3	P56385	OTTHUMG00000086929	ENST00000304312.4:c.19G>A	4.37:g.668018C>T	ENSP00000306003:p.Val7Ile					MYL5_ENST00000506838.1_5'UTR|MYL5_ENST00000505477.1_Intron	p.V7I	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN			1	109	-			7					Q0D2L9	Missense_Mutation	SNP	ENST00000304312.4	37	c.19G>A	CCDS3337.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906925	0.52333	.	.	ENSG00000169020	ENST00000304312	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	U	0.000001	T	0.78110	0.4232	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.78881	-0.2029	8	0.51188	T	0.08	-2.5957	14.8266	0.70117	0.0:1.0:0.0:0.0	.	7	P56385	ATP5I_HUMAN	I	7	.	ENSP00000306003:V7I	V	-	1	0	ATP5I	658018	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.390000	0.52523	2.562000	0.86427	0.585000	0.79938	GTC		0.677	ATP5I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195856.2			4	11	0	0	0	1	0	4	11				
SMIM21	284274	broad.mit.edu	37	18	73130777	73130777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:73130777G>A	ENST00000579022.1	-	2	363	c.224C>T	c.(223-225)tCt>tTt	p.S75F	RP11-321M21.3_ENST00000578340.1_Silent_p.Q57Q|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000579386.1_3'UTR|SMIM21_ENST00000584508.1_Missense_Mutation_p.S75F	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	75						integral component of membrane (GO:0016021)											ccagtcttcagaaaccccttg	0.358																																						ENST00000584508.1																			0											c.(223-225)tCt>tTt		small integral membrane protein 21							133.0	130.0	131.0					18																	73130777		2203	4300	6503	SO:0001583	missense	284274							g.chr18:73130777G>A		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 62"""	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.224C>T	18.37:g.73130777G>A	ENSP00000462106:p.Ser75Phe					SMIM21_ENST00000579022.1_Missense_Mutation_p.S75F|RP11-321M21.3_ENST00000579386.1_3'UTR|RP11-321M21.3_ENST00000578340.1_Silent_p.Q57Q|SMIM21_ENST00000382638.3_Intron	p.S75F							2	342	-									Missense_Mutation	SNP	ENST00000579022.1	37	c.224C>T	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	G	4.557	0.103529	0.08731	.	.	ENSG00000206026	ENST00000382638	.	.	.	3.11	1.29	0.21616	.	.	.	.	.	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.27229	0.172	B	0.25987	0.065	T	0.21042	-1.0257	8	0.87932	D	0	.	5.2997	0.15772	0.2728:0.0:0.7272:0.0	.	75	Q3B7S5	CR062_HUMAN	F	75	.	ENSP00000372083:S75F	S	-	2	0	C18orf62	71259765	0.461000	0.25783	0.010000	0.14722	0.014000	0.08584	0.879000	0.28146	0.139000	0.18822	0.477000	0.44152	TCT		0.358	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		6	72	0	0	0	1	0	6	72				
KIF12	113220	broad.mit.edu	37	9	116854658	116854658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:116854658G>A	ENST00000374118.3	-	15	1594	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	586					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGCAGGGGAGGTGCAGAAGGT	0.602																																						ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1357-1359)Cct>Tct		kinesin family member 12							74.0	75.0	74.0					9																	116854658		2203	4300	6503	SO:0001583	missense	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116854658G>A	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1357C>T	9.37:g.116854658G>A	ENSP00000363232:p.Pro453Ser						p.P453S	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			15	1594	-			586					Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	c.1357C>T	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712197	0.48517	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	D	0.83837	-1.77	4.68	4.68	0.58851	.	0.000000	0.56097	D	0.000036	D	0.85885	0.5801	L	0.34521	1.04	0.33823	D	0.629256	D	0.89917	1.0	D	0.80764	0.994	D	0.89708	0.3910	10	0.87932	D	0	.	13.8263	0.63352	0.0:0.0:1.0:0.0	.	586	Q96FN5	KIF12_HUMAN	S	453;586	ENSP00000363232:P453S	ENSP00000259410:P586S	P	-	1	0	KIF12	115894479	1.000000	0.71417	0.716000	0.30569	0.194000	0.23727	4.895000	0.63214	2.537000	0.85549	0.563000	0.77884	CCT		0.602	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		20	44	0	0	0	1	0	20	44				
NUDT3	11165	broad.mit.edu	37	6	34263428	34263428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:34263428C>T	ENST00000607016.1	-	3	556	c.245G>A	c.(244-246)gGa>gAa	p.G82E	RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.G201E	NM_006703.3	NP_006694.1	O95989	NUDT3_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 3	82	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cell-cell signaling (GO:0007267)|diadenosine polyphosphate catabolic process (GO:0015961)|diphosphoinositol polyphosphate catabolic process (GO:0071544)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|magnesium ion binding (GO:0000287)			lung(2)	2						CTCAAAAATTCCAACTAATCT	0.333																																					GBM(96;1206 1939 18658 39482)	ENST00000607016.1																			0				lung(2)	2						c.(244-246)gGa>gAa		nudix (nucleoside diphosphate linked moiety X)-type motif 3							86.0	83.0	84.0					6																	34263428		2202	4300	6502	SO:0001583	missense	11165							g.chr6:34263428C>T	AF062530	CCDS4791.1	6p21.2	2014-07-16			ENSG00000272325	ENSG00000272325		"""Nudix motif containing"""	8050	protein-coding gene	gene with protein product		609228				9822604	Standard	NM_006703		Approved	DIPP		O95989	OTTHUMG00000014545	ENST00000607016.1:c.245G>A	6.37:g.34263428C>T	ENSP00000476119:p.Gly82Glu					RP1-187N21.4_ENST00000605528.1_Missense_Mutation_p.G201E	p.G82E	NM_006703.3	NP_006694.1					3	556	-								B2R8N4	Missense_Mutation	SNP	ENST00000607016.1	37	c.245G>A	CCDS4791.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706496	0.89018	.	.	ENSG00000112664	ENST00000358797	T	0.08282	3.11	5.17	5.17	0.71159	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.40683	-0.9550	10	0.87932	D	0	-13.8894	19.0308	0.92955	0.0:1.0:0.0:0.0	.	82	O95989	NUDT3_HUMAN	E	82	ENSP00000351650:G82E	ENSP00000351650:G82E	G	-	2	0	NUDT3	34371406	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.438000	0.80431	2.579000	0.87056	0.555000	0.69702	GGA		0.333	NUDT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040224.2			5	43	0	0	0	1	0	5	43				
VPS9D1	9605	broad.mit.edu	37	16	89782942	89782942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89782942C>T	ENST00000389386.3	-	4	483	c.359G>A	c.(358-360)gGa>gAa	p.G120E	VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1_ENST00000561976.1_Missense_Mutation_p.G50E|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	120					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										AGAGAGCTTTCCTCCTTCATC	0.562																																						ENST00000561976.1																			0											c.(148-150)gGa>gAa		VPS9 domain containing 1							159.0	178.0	172.0					16																	89782942		1983	4169	6152	SO:0001583	missense	9605							g.chr16:89782942C>T	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.359G>A	16.37:g.89782942C>T	ENSP00000374037:p.Gly120Glu					VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000389386.3_Missense_Mutation_p.G120E	p.G50E							3	526	-									Missense_Mutation	SNP	ENST00000389386.3	37	c.149G>A	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.052916	0.55218	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	.	.	.	5.08	5.08	0.68730	.	0.285117	0.40640	N	0.001059	T	0.69637	0.3133	L	0.55103	1.725	0.38909	D	0.957484	D	0.76494	0.999	D	0.67725	0.953	T	0.70421	-0.4876	9	0.38643	T	0.18	-5.8222	15.1975	0.73104	0.0:1.0:0.0:0.0	.	120	Q9Y2B5	CP007_HUMAN	E	120;151	.	ENSP00000261625:G151E	G	-	2	0	C16orf7	88310443	0.990000	0.36364	1.000000	0.80357	0.561000	0.35649	3.516000	0.53436	2.340000	0.79590	0.486000	0.48141	GGA		0.562	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		16	218	0	0	0	1	0	16	218				
RMDN3	55177	broad.mit.edu	37	15	41029911	41029911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41029911C>T	ENST00000260385.6	-	9	2206	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S380N			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	380					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TTCTAGCCAGCTCAGGTGAGA	0.428																																						ENST00000260385.6																			0											c.(1138-1140)aGc>aAc		regulator of microtubule dynamics 3							34.0	35.0	34.0					15																	41029911		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41029911C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1139G>A	15.37:g.41029911C>T	ENSP00000260385:p.Ser380Asn					RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S380N	p.S380N							9	2206	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.1139G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816260	0.32145	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.51071	0.72;0.72	5.32	2.04	0.26737	Tetratricopeptide-like helical (1);	0.369273	0.34133	N	0.004235	T	0.46112	0.1376	M	0.76574	2.34	0.28779	N	0.899951	B	0.17852	0.024	B	0.20384	0.029	T	0.44375	-0.9332	10	0.31617	T	0.26	-2.5228	11.7454	0.51817	0.0:0.6794:0.2463:0.0743	.	380	Q96TC7	RMD3_HUMAN	N	380;380;317	ENSP00000260385:S380N;ENSP00000342493:S380N	ENSP00000260385:S380N	S	-	2	0	FAM82A2	38817203	1.000000	0.71417	0.954000	0.39281	0.940000	0.58332	1.440000	0.35024	0.573000	0.29400	-0.175000	0.13238	AGC		0.428	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		23	34	0	0	0	1	0	23	34				
KIAA1614	57710	broad.mit.edu	37	1	180904343	180904343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:180904343G>A	ENST00000367588.4	+	5	1353	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G54E	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	433										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCTCCAGCGGAGAGTCCAGC	0.682																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1297-1299)gGa>gAa		KIAA1614							10.0	15.0	13.0					1																	180904343		2033	4179	6212	SO:0001583	missense	57710							g.chr1:180904343G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1298G>A	1.37:g.180904343G>A	ENSP00000356560:p.Gly433Glu					KIAA1614_ENST00000367587.1_Missense_Mutation_p.G54E	p.G433E	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1353	+			433					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1298G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812307	0.70912	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.35605	1.65;1.3	4.63	3.68	0.42216	.	0.155706	0.41396	D	0.000883	T	0.52224	0.1721	L	0.58101	1.795	0.33126	D	0.542430	D	0.89917	1.0	D	0.79108	0.992	T	0.60403	-0.7270	9	0.33141	T	0.24	-11.1966	11.9031	0.52694	0.0:0.0:0.8187:0.1813	.	433	Q5VZ46	K1614_HUMAN	E	433;54	ENSP00000356560:G433E;ENSP00000356559:G54E	ENSP00000356559:G54E	G	+	2	0	KIAA1614	179170966	1.000000	0.71417	0.999000	0.59377	0.733000	0.41908	3.866000	0.56040	1.003000	0.39130	0.462000	0.41574	GGA		0.682	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		4	9	0	0	0	1	0	4	9				
DDX60L	91351	broad.mit.edu	37	4	169343674	169343674	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:169343674C>T	ENST00000511577.1	-	16	2492		c.e16+1		DDX60L_ENST00000260184.7_Splice_Site|DDX60L_ENST00000505890.1_Splice_Site			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like								ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTGTCATTACCTGCCATGCG	0.383																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.e16+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							101.0	107.0	105.0					4																	169343674		2116	4284	6400	SO:0001630	splice_region_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169343674C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2244+1G>A	4.37:g.169343674C>T						DDX60L_ENST00000260184.7_Splice_Site|DDX60L_ENST00000505890.1_Splice_Site				Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	16	2492	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)						Q96ND6	Splice_Site	SNP	ENST00000511577.1	37			.	.	.	.	.	.	.	.	.	.	C	13.15	2.151719	0.38021	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1566	0.72746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX60L	169580249	1.000000	0.71417	0.970000	0.41538	0.624000	0.37722	4.192000	0.58378	1.632000	0.50472	0.467000	0.42956	.		0.383	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	Intron	3	37	0	0	0	1	0	3	37				
SGK223	157285	broad.mit.edu	37	8	8175818	8175818	+	Missense_Mutation	SNP	G	G	A	rs375569413		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:8175818G>A	ENST00000520004.1	-	6	4331	c.4067C>T	c.(4066-4068)gCc>gTc	p.A1356V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1356V			Q86YV5	SG223_HUMAN		1360							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CATCATCAGGGCCCGCTTCAT	0.677																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(4066-4068)gCc>gTc									99.0	112.0	108.0					8																	8175818		2142	4237	6379	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175818G>A																												ENST00000520004.1:c.4067C>T	8.37:g.8175818G>A	ENSP00000428054:p.Ala1356Val					SGK223_ENST00000330777.4_Missense_Mutation_p.A1356V	p.A1356V			Q86YV5	SG223_HUMAN			6	4331	-			1356					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.4067C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113389	0.94339	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14766	2.48;2.48	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.01319	-1.1386	10	0.72032	D	0.01	.	18.5141	0.90930	0.0:0.0:1.0:0.0	.	1356	Q86YV5	SG223_HUMAN	V	1356	ENSP00000330930:A1356V;ENSP00000428054:A1356V	ENSP00000330930:A1356V	A	-	2	0	AC068353.1	8213228	1.000000	0.71417	0.925000	0.36789	0.954000	0.61252	9.764000	0.98949	2.701000	0.92244	0.462000	0.41574	GCC		0.677	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			62	137	0	0	0	1	0	62	137				
HERC4	26091	broad.mit.edu	37	10	69792543	69792543	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:69792543G>A	ENST00000395198.3	-	7	1016	c.769C>T	c.(769-771)Cta>Tta	p.L257L	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.L147L|HERC4_ENST00000373700.4_Silent_p.L257L|HERC4_ENST00000412272.2_Silent_p.L257L	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	257					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACCTTGGTTAGAGCAGCAGTA	0.289																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(769-771)Cta>Tta		HECT and RLD domain containing E3 ubiquitin protein ligase 4							89.0	89.0	89.0					10																	69792543		2202	4294	6496	SO:0001819	synonymous_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69792543G>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.769C>T	10.37:g.69792543G>A						HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.L147L|HERC4_ENST00000412272.2_Silent_p.L257L|HERC4_ENST00000373700.4_Silent_p.L257L	p.L257L	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			7	1016	-			257					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	ENST00000395198.3	37	c.769C>T	CCDS41533.1																																																																																				0.289	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		6	124	0	0	0	1	0	6	124				
EEFSEC	60678	broad.mit.edu	37	3	127965679	127965679	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:127965679G>A	ENST00000254730.6	+	2	371	c.317G>A	c.(316-318)gGg>gAg	p.G106E	EEFSEC_ENST00000483457.1_Splice_Site_p.G106E	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	106	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTTATTCCAGGGGCCCAGATC	0.532																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.e2-1		eukaryotic elongation factor, selenocysteine-tRNA-specific							157.0	162.0	161.0					3																	127965679		2203	4300	6503	SO:0001630	splice_region_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127965679G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.317-1G>A	3.37:g.127965679G>A						EEFSEC_ENST00000483457.1_Splice_Site_p.G106_splice	p.G106_splice	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			2	371	+			106					Q96HZ6	Splice_Site	SNP	ENST00000254730.6	37	c.316_splice	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801664	0.90538	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.75938	-0.98;-0.98	5.07	5.07	0.68467	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93054	0.7789	H	0.99619	4.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96498	0.9369	9	.	.	.	.	18.4573	0.90725	0.0:0.0:1.0:0.0	.	106;106	C9J8T0;P57772	.;SELB_HUMAN	E	106	ENSP00000254730:G106E;ENSP00000417660:G106E	.	G	+	2	0	EEFSEC	129448369	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.863000	0.99569	2.353000	0.79882	0.313000	0.20887	GGG		0.532	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937	Missense_Mutation	15	204	0	0	0	1	0	15	204				
AKR1B15	441282	broad.mit.edu	37	7	134261129	134261129	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:134261129G>A	ENST00000457545.2	+	9	1032	c.772G>A	c.(772-774)Gag>Aag	p.E258K	AKR1B15_ENST00000423958.1_Missense_Mutation_p.E230K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	258							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TTCCCTGCTGGAGGATCCCAA	0.468																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(772-774)Gag>Aag		aldo-keto reductase family 1, member B15							69.0	76.0	74.0					7																	134261129		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134261129G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.772G>A	7.37:g.134261129G>A	ENSP00000389289:p.Glu258Lys					AKR1B15_ENST00000423958.1_Missense_Mutation_p.E230K	p.E258K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			9	1032	+			258					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.772G>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949655	0.34377	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.22945	1.93;1.93	3.58	2.58	0.30949	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.24314	0.0589	L	0.46947	1.48	0.46028	D	0.998828	B;B	0.28584	0.031;0.216	B;B	0.33750	0.066;0.169	T	0.13872	-1.0493	9	0.52906	T	0.07	.	9.9398	0.41574	0.127:0.0:0.873:0.0	.	230;258	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	K	258;230	ENSP00000389289:E258K;ENSP00000397009:E230K	ENSP00000397009:E230K	E	+	1	0	AKR1B15	133911669	1.000000	0.71417	0.423000	0.26634	0.528000	0.34623	4.062000	0.57492	1.827000	0.53221	0.398000	0.26397	GAG		0.468	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			5	76	0	0	0	1	0	5	76				
ALS2	57679	broad.mit.edu	37	2	202622482	202622482	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:202622482G>A	ENST00000264276.6	-	5	1486	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	372					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTAAAAGAGGCTAAAATATA	0.383																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.e5-1		amyotrophic lateral sclerosis 2 (juvenile)							31.0	30.0	30.0					2																	202622482		1853	4089	5942	SO:0001630	splice_region_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202622482G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1114-1C>T	2.37:g.202622482G>A							p.P372_splice	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			5	1486	-			372					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Splice_Site	SNP	ENST00000264276.6	37	c.1113_splice	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	1.376	-0.584785	0.03827	.	.	ENSG00000003393	ENST00000264276	T	0.53206	0.63	5.45	3.62	0.41486	.	0.442914	0.25138	N	0.032854	T	0.22003	0.0530	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.20052	0.041;0.001;0.002	B;B;B	0.14578	0.011;0.001;0.004	T	0.07065	-1.0792	10	0.09843	T	0.71	.	12.664	0.56830	0.1414:0.0:0.8586:0.0	.	372;372;372	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	S	372	ENSP00000264276:P372S	ENSP00000264276:P372S	P	-	1	0	ALS2	202330727	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	4.164000	0.58190	1.429000	0.47314	0.563000	0.77884	CCT		0.383	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	Missense_Mutation	8	24	0	0	0	1	0	8	24				
ZNF750	79755	broad.mit.edu	37	17	80789078	80789078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80789078G>A	ENST00000269394.3	-	2	2086	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.T19I	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	418					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)			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)			CATGAAGTCGGTGGGGCTCGG	0.642																																						ENST00000269394.3																			0				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						c.(1252-1254)aCc>aTc		zinc finger protein 750							58.0	58.0	58.0					17																	80789078		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80789078G>A	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.1253C>T	17.37:g.80789078G>A	ENSP00000269394:p.Thr418Ile					TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.T19I|TBCD_ENST00000539345.2_Intron	p.T418I	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	2086	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	418					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.1253C>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564444	0.86439	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.14144	2.53	4.4	4.4	0.53042	.	0.000000	0.64402	D	0.000007	T	0.37865	0.1019	M	0.74258	2.255	0.52099	D	0.999943	D	0.89917	1.0	D	0.87578	0.998	T	0.19811	-1.0294	9	.	.	.	-39.907	16.3113	0.82872	0.0:0.0:1.0:0.0	.	418	Q32MQ0	ZN750_HUMAN	I	418;19	ENSP00000269394:T418I	.	T	-	2	0	ZNF750	78382367	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.910000	0.75741	2.167000	0.68274	0.563000	0.77884	ACC		0.642	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		8	85	0	0	0	1	0	8	85				
CELSR1	9620	broad.mit.edu	37	22	46929867	46929867	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46929867C>T	ENST00000262738.3	-	1	3200	c.3201G>A	c.(3199-3201)cgG>cgA	p.R1067R	CELSR1_ENST00000395964.1_Silent_p.R1067R|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1067	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATACTCCCGCCGGACCTCAA	0.612																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3199-3201)cgG>cgA		cadherin, EGF LAG seven-pass G-type receptor 1							73.0	70.0	71.0					22																	46929867		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46929867C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3201G>A	22.37:g.46929867C>T						CELSR1_ENST00000395964.1_Silent_p.R1067R|CELSR1_ENST00000497509.1_5'UTR	p.R1067R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3200	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1067			Cadherin 8.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.3201G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	9.169	1.020719	0.19433	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.63	2.37	0.29283	.	.	.	.	.	T	0.43567	0.1253	.	.	.	0.32309	N	0.563971	.	.	.	.	.	.	T	0.50145	-0.8862	4	.	.	.	.	8.581	0.33628	0.0:0.6247:0.2929:0.0823	.	.	.	.	D	442	.	.	G	-	2	0	CELSR1	45308531	0.000000	0.05858	0.587000	0.28692	0.904000	0.53231	-0.305000	0.08188	0.325000	0.23359	0.462000	0.41574	GGC		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		4	49	0	0	0	1	0	4	49				
FOXS1	2307	broad.mit.edu	37	20	30432612	30432612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:30432612C>T	ENST00000375978.3	-	1	808	c.734G>A	c.(733-735)gGg>gAg	p.G245E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	245					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GTAGCTGCTCCCGATGCCTGA	0.602																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(733-735)gGg>gAg		forkhead box S1							26.0	29.0	28.0					20																	30432612		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432612C>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.734G>A	20.37:g.30432612C>T	ENSP00000365145:p.Gly245Glu						p.G245E	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	808	-			245					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.734G>A	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	C	5.365	0.252685	0.10185	.	.	ENSG00000179772	ENST00000375978	D	0.93307	-3.2	4.54	1.39	0.22231	.	0.135280	0.33327	N	0.005028	D	0.85418	0.5692	N	0.19112	0.55	0.24301	N	0.995128	B	0.06786	0.001	B	0.06405	0.002	T	0.75280	-0.3373	10	0.52906	T	0.07	.	8.6107	0.33800	0.0:0.6297:0.2879:0.0824	.	245	O43638	FOXS1_HUMAN	E	245	ENSP00000365145:G245E	ENSP00000365145:G245E	G	-	2	0	FOXS1	29896273	0.000000	0.05858	0.308000	0.25141	0.268000	0.26511	0.513000	0.22770	0.132000	0.18615	-1.474000	0.01003	GGG		0.602	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		10	14	0	0	0	1	0	10	14				
FAM180A	389558	broad.mit.edu	37	7	135418898	135418898	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:135418898C>T	ENST00000338588.3	-	3	612	c.347G>A	c.(346-348)gGc>gAc	p.G116D	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.G116D	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	116						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTTGAGGATGCCAGGGTGGCT	0.607																																						ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(346-348)gGc>gAc		family with sequence similarity 180, member A							138.0	119.0	126.0					7																	135418898		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418898C>T	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.347G>A	7.37:g.135418898C>T	ENSP00000342336:p.Gly116Asp					FAM180A_ENST00000415751.1_Missense_Mutation_p.G116D	p.G116D	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	612	-			116					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.347G>A	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083159	0.76642	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.33865	1.39;1.39	5.65	5.65	0.86999	.	0.243335	0.44688	D	0.000430	T	0.60261	0.2255	M	0.70275	2.135	0.58432	D	0.999998	D	0.76494	0.999	D	0.70016	0.967	T	0.62105	-0.6924	10	0.72032	D	0.01	-20.9382	17.225	0.86967	0.0:1.0:0.0:0.0	.	116	Q6UWF9	F180A_HUMAN	D	116	ENSP00000342336:G116D;ENSP00000395467:G116D	ENSP00000342336:G116D	G	-	2	0	FAM180A	135069438	0.030000	0.19436	0.138000	0.22173	0.623000	0.37688	1.458000	0.35223	2.677000	0.91161	0.561000	0.74099	GGC		0.607	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		4	120	0	0	0	1	0	4	120				
RANBP2	5903	broad.mit.edu	37	2	109357017	109357017	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:109357017G>A	ENST00000283195.6	+	7	981	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	285					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTTAGAAATGAAAGGACATT	0.383																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(853-855)atG>atA		RAN binding protein 2							233.0	249.0	244.0					2																	109357017		2050	3886	5936	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109357017G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.855G>A	2.37:g.109357017G>A	ENSP00000283195:p.Met285Ile						p.M285I	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			7	981	+			285					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.855G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257681	0.39896	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27720	1.65	4.79	-0.985	0.10256	.	.	.	.	.	T	0.29256	0.0728	M	0.61703	1.905	0.23282	N	0.997983	B	0.06786	0.001	B	0.04013	0.001	T	0.26985	-1.0087	9	0.45353	T	0.12	0.207	10.3108	0.43708	0.3278:0.0:0.6722:0.0	.	285	P49792	RBP2_HUMAN	I	285	ENSP00000283195:M285I	ENSP00000283195:M285I	M	+	3	0	RANBP2	108723449	1.000000	0.71417	0.419000	0.26584	0.998000	0.95712	2.944000	0.49034	-0.458000	0.07023	0.555000	0.69702	ATG		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		5	404	0	0	0	1	0	5	404				
ATXN3L	92552	broad.mit.edu	37	X	13338017	13338017	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:13338017G>A	ENST00000380622.2	-	1	501	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	13	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGAGCACACAGGAAACCTTCC	0.423																																						ENST00000380622.2																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(37-39)Ctg>Ttg		ataxin 3-like							64.0	53.0	56.0					X																	13338017		1568	3582	5150	SO:0001819	synonymous_variant	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13338017G>A		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.37C>T	X.37:g.13338017G>A						GS1-600G8.3_ENST00000431486.1_RNA	p.L13L	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN			1	501	-			13			Josephin.		B2RNY8	Silent	SNP	ENST00000380622.2	37	c.37C>T	CCDS48080.1																																																																																				0.423	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		17	46	0	0	0	1	0	17	46				
TJAP1	93643	broad.mit.edu	37	6	43472734	43472734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43472734G>A	ENST00000372445.5	+	11	1191	c.815G>A	c.(814-816)gGt>gAt	p.G272D	TJAP1_ENST00000438588.2_Missense_Mutation_p.G272D|TJAP1_ENST00000372452.1_Missense_Mutation_p.G262D|TJAP1_ENST00000372449.1_Missense_Mutation_p.G272D|TJAP1_ENST00000372444.2_Missense_Mutation_p.G262D|TJAP1_ENST00000259751.1_Missense_Mutation_p.G262D|TJAP1_ENST00000436109.2_Missense_Mutation_p.G262D|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	272	Pro-rich.				Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGTGTCCCAGGTGATCCAGCC	0.652																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(784-786)gGt>gAt		tight junction associated protein 1 (peripheral)							46.0	48.0	47.0					6																	43472734		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43472734G>A	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.815G>A	6.37:g.43472734G>A	ENSP00000361522:p.Gly272Asp					TJAP1_ENST00000372452.1_Missense_Mutation_p.G262D|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372445.5_Missense_Mutation_p.G272D|TJAP1_ENST00000372449.1_Missense_Mutation_p.G272D|TJAP1_ENST00000438588.2_Missense_Mutation_p.G272D|TJAP1_ENST00000436109.2_Missense_Mutation_p.G262D|TJAP1_ENST00000259751.1_Missense_Mutation_p.G262D	p.G262D	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1218	+	all_lung(25;0.00536)		272					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.785G>A	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641598	0.47153	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.13	5.13	0.70059	.	0.432444	0.23854	N	0.043907	T	0.22627	0.0546	N	0.16478	0.41	0.28356	N	0.920698	P;P	0.51351	0.944;0.869	P;P	0.53146	0.719;0.475	T	0.06899	-1.0801	9	0.12103	T	0.63	-7.7947	16.0636	0.80856	0.0:0.0:1.0:0.0	.	272;262	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	D	262;272;262;262;262;262;272;272	.	ENSP00000259751:G262D	G	+	2	0	TJAP1	43580712	1.000000	0.71417	0.954000	0.39281	0.737000	0.42083	2.878000	0.48515	2.359000	0.80004	0.561000	0.74099	GGT		0.652	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		23	45	0	0	0	1	0	23	45				
SNX14	57231	broad.mit.edu	37	6	86237980	86237980	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:86237980C>T	ENST00000314673.3	-	20	2171	c.1995G>A	c.(1993-1995)caG>caA	p.Q665Q	SNX14_ENST00000505648.1_Splice_Site_p.Q613Q|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Splice_Site_p.Q612Q|SNX14_ENST00000369627.2_Splice_Site_p.Q656Q|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	665	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GATGTTATACCTGTAGATATT	0.343																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.e20+1		sorting nexin 14							168.0	186.0	180.0					6																	86237980		2203	4299	6502	SO:0001630	splice_region_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86237980C>T	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1995+1G>A	6.37:g.86237980C>T						SNX14_ENST00000505648.1_Splice_Site_p.Q613_splice|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Splice_Site_p.Q656_splice|SNX14_ENST00000346348.3_Splice_Site_p.Q612_splice|SNX14_ENST00000513865.1_Intron	p.Q665_splice	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	20	2171	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	665			PX.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Splice_Site	SNP	ENST00000314673.3	37	c.1995_splice	CCDS5004.1																																																																																				0.343	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	Silent	6	82	0	0	0	1	0	6	82				
BHLHB9	80823	broad.mit.edu	37	X	102004800	102004800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:102004800G>A	ENST00000372735.1	+	4	1462	c.877G>A	c.(877-879)Gat>Aat	p.D293N	BHLHB9_ENST00000361229.4_Missense_Mutation_p.D293N|BHLHB9_ENST00000457056.1_Missense_Mutation_p.D293N|BHLHB9_ENST00000448867.1_Missense_Mutation_p.D293N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.D293N			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	293					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGACCATAGATGAGATTAG	0.473																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(877-879)Gat>Aat		basic helix-loop-helix domain containing, class B, 9							88.0	79.0	82.0					X																	102004800		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004800G>A	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.877G>A	X.37:g.102004800G>A	ENSP00000361820:p.Asp293Asn					BHLHB9_ENST00000457056.1_Missense_Mutation_p.D293N|BHLHB9_ENST00000448867.1_Missense_Mutation_p.D293N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.D293N|BHLHB9_ENST00000361229.4_Missense_Mutation_p.D293N	p.D293N			Q6PI77	BHLH9_HUMAN			4	1462	+			293					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.877G>A	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817977	0.32145	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	4.69	3.81	0.43845	.	0.475184	0.17844	N	0.160104	T	0.07954	0.0199	L	0.34521	1.04	0.28189	N	0.927849	B	0.30482	0.281	B	0.24848	0.056	T	0.21109	-1.0255	9	.	.	.	-39.0962	9.5782	0.39470	0.0:0.2073:0.7927:0.0	.	293	Q6PI77	BHLH9_HUMAN	N	293	ENSP00000403226:D293N;ENSP00000354675:D293N;ENSP00000405893:D293N;ENSP00000391722:D293N;ENSP00000361820:D293N	.	D	+	1	0	BHLHB9	101891456	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	2.215000	0.42862	1.285000	0.44548	0.600000	0.82982	GAT		0.473	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		44	86	0	0	0	1	0	44	86				
ETV2	2116	broad.mit.edu	37	19	36134627	36134627	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36134627G>A	ENST00000403402.1	+	4	993	c.687G>A	c.(685-687)ttG>ttA	p.L229L	ETV2_ENST00000479824.1_Silent_p.L136L|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000402764.2_Silent_p.L229L|ETV2_ENST00000379026.2_Silent_p.L257L			O00321	ETV2_HUMAN	ets variant 2	229					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCCAGTTTGGCTCGATGCC	0.652																																						ENST00000379026.2																			0				lung(2)	2						c.(769-771)ttG>ttA		ets variant 2							45.0	48.0	47.0					19																	36134627		2203	4300	6503	SO:0001819	synonymous_variant	2116						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:36134627G>A	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.687G>A	19.37:g.36134627G>A						ETV2_ENST00000479824.1_Silent_p.L136L|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000402764.2_Silent_p.L229L|ETV2_ENST00000403402.1_Silent_p.L229L	p.L257L			B9EIN1	B9EIN1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	1210	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		229					A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Silent	SNP	ENST00000403402.1	37	c.771G>A	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682838	0.47991	.	.	ENSG00000105672	ENST00000379021	.	.	.	4.93	0.185	0.15096	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.38134	-0.9675	5	0.87932	D	0	.	3.9159	0.09222	0.3088:0.1969:0.4944:0.0	.	.	.	.	S	179	.	ENSP00000368307:G179S	G	+	1	0	ETV2	40826467	0.000000	0.05858	0.011000	0.14972	0.968000	0.65278	0.350000	0.20079	0.297000	0.22615	0.555000	0.69702	GGC		0.652	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182		21	44	0	0	0	1	0	21	44				
COL11A2	1302	broad.mit.edu	37	6	33148755	33148755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33148755G>A	ENST00000374708.4	-	8	1207	c.949C>T	c.(949-951)Cca>Tca	p.P317S	COL11A2_ENST00000374712.1_Missense_Mutation_p.P322S|COL11A2_ENST00000341947.2_Missense_Mutation_p.P403S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P356S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P382S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P343S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P296S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P377S	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	403	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGCCTTCTGGGCCAGGGGGC	0.547																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(1207-1209)Cca>Tca		collagen, type XI, alpha 2							54.0	59.0	58.0					6																	33148755		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33148755G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.949C>T	6.37:g.33148755G>A	ENSP00000363840:p.Pro317Ser					COL11A2_ENST00000374714.1_Missense_Mutation_p.P377S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P382S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P296S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P317S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P356S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P343S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P322S	p.P403S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			10	1434	-			403			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1207C>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392437	0.62066	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	3.75	3.75	0.43078	.	0.146306	0.46758	D	0.000264	D	0.94321	0.8175	L	0.58428	1.81	0.33825	D	0.629577	P;B;P	0.44877	0.845;0.383;0.747	P;B;P	0.58620	0.61;0.321;0.842	D	0.93073	0.6484	10	0.45353	T	0.12	.	7.3189	0.26515	0.1208:0.0:0.8792:0.0	.	296;317;403	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	S	317;403;382;377;356;343;322;296;403	ENSP00000363840:P317S;ENSP00000339915:P403S;ENSP00000350079:P382S;ENSP00000363846:P377S;ENSP00000363845:P356S;ENSP00000378623:P343S;ENSP00000363844:P322S;ENSP00000355123:P296S;ENSP00000405520:P403S	ENSP00000339915:P403S	P	-	1	0	COL11A2	33256733	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.482000	0.60257	2.091000	0.63221	0.549000	0.68633	CCA		0.547	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			4	54	0	0	0	1	0	4	54				
DENND4C	55667	broad.mit.edu	37	9	19341073	19341073	+	Missense_Mutation	SNP	G	G	A	rs375497484		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:19341073G>A	ENST00000380432.2	+	16	2143	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	DENND4C_ENST00000434457.2_Missense_Mutation_p.A989T|DENND4C_ENST00000602925.1_Missense_Mutation_p.A940T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	704					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAACAGGCAGCAAGAGAATT	0.328																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(538-540)Gca>Aca		DENN/MADD domain containing 4C		G	THR/ALA	0,4406		0,0,2203	79.0	80.0	80.0		2110	-1.8	0.0	9		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	DENND4C	NM_017925.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	704/1674	19341073	1,13005	2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19341073G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2110G>A	9.37:g.19341073G>A	ENSP00000369797:p.Ala704Thr					DENND4C_ENST00000540671.1_Missense_Mutation_p.A34T|DENND4C_ENST00000602925.1_Missense_Mutation_p.A940T|DENND4C_ENST00000380432.2_Missense_Mutation_p.A704T|DENND4C_ENST00000434457.2_Missense_Mutation_p.A989T	p.A180T			Q5VZ89	DEN4C_HUMAN			17	2290	+			704			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.538G>A		.	.	.	.	.	.	.	.	.	.	G	1.054	-0.674994	0.03378	0.0	1.16E-4	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000540671;ENST00000380432	T;T	0.22743	1.95;1.94	5.93	-1.8	0.07907	.	1.374760	0.04215	N	0.332470	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.22871	-1.0204	10	0.15952	T	0.53	-0.5203	3.7935	0.08730	0.3641:0.0931:0.4444:0.0984	.	34;704	B7Z660;Q5VZ89	.;DEN4C_HUMAN	T	704;180;34;180	ENSP00000305795:A180T;ENSP00000443804:A34T	ENSP00000305795:A180T	A	+	1	0	DENND4C	19331073	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	0.100000	0.15231	-1.017000	0.03367	-1.814000	0.00607	GCA		0.328	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		6	87	0	0	0	1	0	6	87				
GGT7	2686	broad.mit.edu	37	20	33450622	33450622	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33450622C>T	ENST00000336431.5	-	3	596	c.552G>A	c.(550-552)ctG>ctA	p.L184L		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	184					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CTTACCCGCCCAGGCCAGAAC	0.607																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(550-552)ctG>ctA		gamma-glutamyltransferase 7							68.0	64.0	65.0					20																	33450622		2203	4300	6503	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33450622C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.552G>A	20.37:g.33450622C>T							p.L184L	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			3	596	-			184					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.552G>A	CCDS13242.2																																																																																				0.607	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		18	36	0	0	0	1	0	18	36				
GBF1	8729	broad.mit.edu	37	10	104123132	104123132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104123132G>A	ENST00000369983.3	+	16	2253	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	665					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAGTGATCTGGAGGAAGCTGT	0.597																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1993-1995)Gag>Aag		golgi brefeldin A resistant guanine nucleotide exchange factor 1							93.0	95.0	94.0					10																	104123132		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104123132G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1993G>A	10.37:g.104123132G>A	ENSP00000359000:p.Glu665Lys						p.E665K	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	16	2253	+		Colorectal(252;0.0236)	665					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1993G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924079	0.34002	.	.	ENSG00000107862	ENST00000369983	T	0.09911	2.93	6.17	5.26	0.73747	.	0.284380	0.44285	D	0.000469	T	0.11239	0.0274	M	0.61703	1.905	0.48975	D	0.999732	B;B;B	0.33379	0.003;0.41;0.231	B;B;B	0.26614	0.002;0.071;0.039	T	0.04333	-1.0959	10	0.07175	T	0.84	-15.0791	15.231	0.73386	0.0:0.1394:0.8606:0.0	.	665;665;665	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	K	665	ENSP00000359000:E665K	ENSP00000359000:E665K	E	+	1	0	GBF1	104113122	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.765000	0.55272	1.596000	0.50062	0.655000	0.94253	GAG		0.597	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			6	78	0	0	0	1	0	6	78				
KSR1	8844	broad.mit.edu	37	17	25930859	25930859	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:25930859G>A	ENST00000319524.6	+	13	1576		c.e13-1		KSR1_ENST00000509603.2_Splice_Site|KSR1_ENST00000268763.6_Splice_Site|KSR1_ENST00000398988.3_Splice_Site|KSR1_ENST00000581975.1_Splice_Site			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1						Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTTTCCTCCAGACATTTCAGC	0.542											OREG0024261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.e14-1		kinase suppressor of ras 1							90.0	99.0	96.0					17																	25930859		2008	4176	6184	SO:0001630	splice_region_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25930859G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1577-1G>A	17.37:g.25930859G>A			OREG0024261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	782	KSR1_ENST00000319524.6_Splice_Site|KSR1_ENST00000581975.1_Splice_Site|KSR1_ENST00000509603.2_Splice_Site|KSR1_ENST00000268763.6_Splice_Site		NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	14	1610	+	Lung NSC(42;0.00836)							F8WEA9|H7BYU0|Q13476	Splice_Site	SNP	ENST00000319524.6	37			.	.	.	.	.	.	.	.	.	.	G	12.22	1.873729	0.33069	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982;ENST00000398988	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4597	0.75346	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KSR1	22954986	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	4.346000	0.59367	2.726000	0.93360	0.655000	0.94253	.		0.542	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238	Intron	9	22	0	0	0	1	0	9	22				
CHRNB3	1142	broad.mit.edu	37	8	42587210	42587210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:42587210G>A	ENST00000289957.2	+	5	888	c.760G>A	c.(760-762)Gtg>Atg	p.V254M		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	254					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	AACAGTTCTTGTGTTCTATTT	0.428																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(760-762)Gtg>Atg		cholinergic receptor, nicotinic, beta 3 (neuronal)							87.0	91.0	90.0					8																	42587210		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587210G>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.760G>A	8.37:g.42587210G>A	ENSP00000289957:p.Val254Met						p.V254M	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	888	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	254					Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.760G>A	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.717304	0.89205	.	.	ENSG00000147432	ENST00000289957	T	0.73897	-0.79	5.72	5.72	0.89469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91600	0.7346	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93792	0.7093	10	0.87932	D	0	.	19.938	0.97149	0.0:0.0:1.0:0.0	.	254	Q05901	ACHB3_HUMAN	M	254	ENSP00000289957:V254M	ENSP00000289957:V254M	V	+	1	0	CHRNB3	42706367	1.000000	0.71417	0.944000	0.38274	0.935000	0.57460	9.869000	0.99810	2.710000	0.92621	0.558000	0.71614	GTG		0.428	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			6	62	0	0	0	1	0	6	62				
MAD1L1	8379	broad.mit.edu	37	7	2257615	2257615	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:2257615G>A	ENST00000406869.1	-	7	1217	c.660C>T	c.(658-660)gaC>gaT	p.D220D	MAD1L1_ENST00000402746.1_Silent_p.D128D|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000399654.2_Silent_p.D220D|MAD1L1_ENST00000265854.7_Silent_p.D220D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	220					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCTGCTCGTGGTCTGCTCTTG	0.522																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(658-660)gaC>gaT		MAD1 mitotic arrest deficient-like 1 (yeast)							248.0	272.0	264.0					7																	2257615		2143	4243	6386	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2257615G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.660C>T	7.37:g.2257615G>A						MAD1L1_ENST00000265854.7_Silent_p.D220D|MAD1L1_ENST00000402746.1_Silent_p.D128D|MAD1L1_ENST00000399654.2_Silent_p.D220D	p.D220D			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	7	1217	-		Ovarian(82;0.0272)	220					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.660C>T	CCDS43539.1																																																																																				0.522	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		34	101	0	0	0	1	0	34	101				
FN3KRP	79672	broad.mit.edu	37	17	80684766	80684766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80684766G>A	ENST00000269373.6	+	6	722	c.649G>A	c.(649-651)Gac>Aac	p.D217N	FN3KRP_ENST00000535965.1_Missense_Mutation_p.D167N|RP11-388C12.5_ENST00000570919.1_lincRNA	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	217							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACTCCACGGGGACCTCTGGGG	0.537																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(649-651)Gac>Aac		fructosamine 3 kinase related protein							75.0	80.0	78.0					17																	80684766		2203	4300	6503	SO:0001583	missense	79672						kinase activity	g.chr17:80684766G>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.649G>A	17.37:g.80684766G>A	ENSP00000269373:p.Asp217Asn					FN3KRP_ENST00000535965.1_Missense_Mutation_p.D167N	p.D217N	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	722	+	Breast(20;0.000523)|all_neural(118;0.0952)		217					Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	c.649G>A	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453888	0.84209	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	D;D	0.94537	-3.45;-3.45	5.82	5.82	0.92795	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98609	1.0662	10	0.66056	D	0.02	-45.2097	19.6844	0.95976	0.0:0.0:1.0:0.0	.	217	Q9HA64	KT3K_HUMAN	N	217;167	ENSP00000269373:D217N;ENSP00000444994:D167N	ENSP00000269373:D217N	D	+	1	0	FN3KRP	78278055	1.000000	0.71417	0.983000	0.44433	0.124000	0.20399	9.619000	0.98369	2.761000	0.94854	0.655000	0.94253	GAC		0.537	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		4	103	0	0	0	1	0	4	103				
HPN	3249	broad.mit.edu	37	19	35540411	35540411	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35540411C>T	ENST00000262626.2	+	4	976	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	HPN_ENST00000392226.1_Silent_p.L51L|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	51					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCAGGAGCCGCTGTACCCAGG	0.627																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(151-153)Ctg>Ttg		hepsin	Coagulation factor VIIa(DB00036)						20.0	20.0	20.0					19																	35540411		2200	4293	6493	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35540411C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.151C>T	19.37:g.35540411C>T						HPN_ENST00000392226.1_Silent_p.L51L|HPN_ENST00000597419.1_Intron	p.L51L	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	976	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		51					B2RDS4	Silent	SNP	ENST00000262626.2	37	c.151C>T	CCDS32993.1																																																																																				0.627	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		5	12	0	0	0	1	0	5	12				
CTSW	1521	broad.mit.edu	37	11	65650323	65650323	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65650323C>T	ENST00000307886.3	+	7	739	c.693C>T	c.(691-693)taC>taT	p.Y231Y	CTSW_ENST00000528419.1_Silent_p.Y231Y	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	231					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCAAGAAGTACCAGAAGGTGG	0.612																																						ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(691-693)taC>taT		cathepsin W							104.0	93.0	97.0					11																	65650323		2201	4296	6497	SO:0001819	synonymous_variant	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650323C>T	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.693C>T	11.37:g.65650323C>T						CTSW_ENST00000307886.3_Silent_p.Y231Y	p.Y231Y			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	7	697	+			231					Q86VT4	Silent	SNP	ENST00000307886.3	37	c.693C>T	CCDS8117.1																																																																																				0.612	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		6	74	0	0	0	1	0	6	74				
YTHDC1	91746	broad.mit.edu	37	4	69203361	69203361	+	Missense_Mutation	SNP	G	G	A	rs535554727		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69203361G>A	ENST00000344157.4	-	3	723	c.388C>T	c.(388-390)Cct>Tct	p.P130S	YTHDC1_ENST00000579690.1_Missense_Mutation_p.P130S|YTHDC1_ENST00000355665.3_Missense_Mutation_p.P130S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	130					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GTTTTTTCAGGTTGATTCTTA	0.398																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(388-390)Cct>Tct		YTH domain containing 1							96.0	93.0	94.0					4																	69203361		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69203361G>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.388C>T	4.37:g.69203361G>A	ENSP00000339245:p.Pro130Ser					YTHDC1_ENST00000355665.3_Missense_Mutation_p.P130S|YTHDC1_ENST00000579690.1_Missense_Mutation_p.P130S	p.P130S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			3	723	-			130					Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.388C>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059984	0.36373	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28255	2.03;1.62	5.57	4.73	0.59995	.	0.181371	0.48767	D	0.000163	T	0.20618	0.0496	L	0.27053	0.805	0.34451	D	0.700682	B;B	0.32245	0.361;0.005	B;B	0.32289	0.143;0.002	T	0.27400	-1.0075	10	0.17832	T	0.49	.	11.7558	0.51874	0.1422:0.0:0.8578:0.0	.	130;130	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	S	130	ENSP00000339245:P130S;ENSP00000347888:P130S	ENSP00000339245:P130S	P	-	1	0	YTHDC1	68885956	1.000000	0.71417	0.994000	0.49952	0.770000	0.43624	1.976000	0.40579	1.337000	0.45525	0.585000	0.79938	CCT		0.398	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		11	81	0	0	0	1	0	11	81				
S100A3	6274	broad.mit.edu	37	1	153520178	153520178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:153520178C>T	ENST00000368713.3	-	3	482	c.286G>A	c.(286-288)Gag>Aag	p.E96K	S100A4_ENST00000368714.1_Intron|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000368716.4_5'Flank|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000481009.1_5'Flank|S100A3_ENST00000368712.1_Missense_Mutation_p.E96K	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	96						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGGGGCTCTGAGGGGCAG	0.632																																						ENST00000368713.3																			0				breast(1)|liver(1)|lung(1)	3						c.(286-288)Gag>Aag		S100 calcium binding protein A3							99.0	94.0	96.0					1																	153520178		2203	4300	6503	SO:0001583	missense	6274						calcium ion binding|protein binding	g.chr1:153520178C>T	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.286G>A	1.37:g.153520178C>T	ENSP00000357702:p.Glu96Lys					S100A3_ENST00000368712.1_Missense_Mutation_p.E96K|S100A4_ENST00000368714.1_Intron	p.E96K	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	482	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		96					D3DV51|Q6FGE4	Missense_Mutation	SNP	ENST00000368713.3	37	c.286G>A	CCDS1043.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.739636	0.00681	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	T;T	0.09255	3.0;3.0	5.02	-0.279	0.12890	EF-hand-like domain (1);	2.023700	0.02185	N	0.060858	T	0.00967	0.0032	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	10	0.02654	T	1	.	5.0989	0.14749	0.0:0.497:0.1472:0.3558	.	96	P33764	S10A3_HUMAN	K	96	ENSP00000357702:E96K;ENSP00000357701:E96K	ENSP00000357701:E96K	E	-	1	0	S100A3	151786802	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.273000	0.18662	-0.012000	0.14223	-0.165000	0.13383	GAG		0.632	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		9	76	0	0	0	1	0	9	76				
MEPE	56955	broad.mit.edu	37	4	88759831	88759831	+	Silent	SNP	G	G	A	rs555535372		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:88759831G>A	ENST00000424957.3	+	3	175	c.102G>A	c.(100-102)gaG>gaA	p.E34E	MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000395102.4_Silent_p.E34E|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000511670.1_Silent_p.E34E|MEPE_ENST00000361056.3_Silent_p.E34E	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	34					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GTGTGGAAGAGCAGAGGGTAA	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		18535	0.001		0.0	False		,,,				2504	0.0					ENST00000395102.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(100-102)gaG>gaA		matrix extracellular phosphoglycoprotein							130.0	130.0	130.0					4																	88759831		2203	4300	6503	SO:0001819	synonymous_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88759831G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.102G>A	4.37:g.88759831G>A						MEPE_ENST00000424957.3_Silent_p.E34E|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000511670.1_Silent_p.E34E|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000361056.3_Silent_p.E34E	p.E34E			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	3	212	+		Hepatocellular(203;0.114)	34					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Silent	SNP	ENST00000424957.3	37	c.102G>A	CCDS3625.1																																																																																				0.348	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			11	30	0	0	0	1	0	11	30				
KRT34	3885	broad.mit.edu	37	17	39538302	39538302	+	Missense_Mutation	SNP	C	C	T	rs139387232		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39538302C>T	ENST00000394001.1	-	1	353	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	108	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCTGGCCAGGCGGTCGTTCAG	0.612																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(322-324)cGc>cAc		keratin 34		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	89.0	91.0		323	5.8	1.0	17	dbSNP_134	91	1,8593	1.2+/-3.3	0,1,4296	no	missense	KRT34	NM_021013.3	29	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	108/437	39538302	2,12998	2203	4297	6500	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538302C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.323G>A	17.37:g.39538302C>T	ENSP00000377570:p.Arg108His						p.R108H	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			1	353	-		Breast(137;0.000496)	108			Coil 1A.|Rod.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.323G>A	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	34	5.315171	0.95655	2.27E-4	1.16E-4	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.82	5.82	0.92795	Filament (1);	0.000000	0.64402	D	0.000008	D	0.86012	0.5831	M	0.93016	3.37	0.52099	D	0.999949	D	0.76494	0.999	D	0.66602	0.945	D	0.88720	0.3229	9	0.87932	D	0	.	19.141	0.93446	0.0:1.0:0.0:0.0	.	108	O76011	KRT34_HUMAN	H	66;108	.	ENSP00000251648:R108H	R	-	2	0	KRT34	36791828	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.003000	0.70701	2.764000	0.94973	0.650000	0.86243	CGC		0.612	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		5	141	0	0	0	1	0	5	141				
PLA2G3	50487	broad.mit.edu	37	22	31531733	31531733	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:31531733C>T	ENST00000215885.3	-	7	1758	c.1506G>A	c.(1504-1506)agG>agA	p.R502R		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	502					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACTTCTGCTGCCTGTCGGGTC	0.602																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(1504-1506)agG>agA		phospholipase A2, group III							94.0	92.0	93.0					22																	31531733		2203	4300	6503	SO:0001819	synonymous_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31531733C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1506G>A	22.37:g.31531733C>T							p.R502R	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			7	1758	-			502					O95768	Silent	SNP	ENST00000215885.3	37	c.1506G>A	CCDS13889.1																																																																																				0.602	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		35	70	0	0	0	1	0	35	70				
CYP4F8	11283	broad.mit.edu	37	19	15730434	15730434	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:15730434C>T	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CAGCCTTTGGCTGCCGTACTA	0.567																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							49.0	54.0	53.0					19																	15730434		2192	4297	6489			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15730434C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730434C>T										P98187	CP4F8_HUMAN			0	461	+									RNA	SNP	ENST00000441682.2	37																																																																																						0.567	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		7	27	0	0	0	1	0	7	27				
FMO4	2329	broad.mit.edu	37	1	171300855	171300855	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:171300855C>T	ENST00000367749.3	+	6	891	c.561C>T	c.(559-561)gtC>gtT	p.V187V	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	187					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GCAAACGCGTCTTGGTGATTG	0.468																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(559-561)gtC>gtT		flavin containing monooxygenase 4							196.0	186.0	189.0					1																	171300855		2203	4300	6503	SO:0001819	synonymous_variant	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171300855C>T	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.561C>T	1.37:g.171300855C>T						FMO4_ENST00000462992.1_3'UTR	p.V187V	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			6	891	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		187					Q53XR0	Silent	SNP	ENST00000367749.3	37	c.561C>T	CCDS1295.1																																																																																				0.468	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		4	132	0	0	0	1	0	4	132				
CCM2L	140706	broad.mit.edu	37	20	30617637	30617637	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:30617637C>T	ENST00000300415.8	+	9	1411	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	466																	AGTTCCTCCTCCTTGGTGAGC	0.612																																						ENST00000300415.8																			0											c.(1396-1398)ctC>ctT		cerebral cavernous malformation 2-like							32.0	30.0	31.0					20																	30617637		2203	4300	6503	SO:0001819	synonymous_variant	140706							g.chr20:30617637C>T	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1398C>T	20.37:g.30617637C>T						CCM2L_ENST00000262659.8_3'UTR|RP1-310O13.7_ENST00000449519.1_RNA	p.L466L							9	1411	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	ENST00000300415.8	37	c.1398C>T																																																																																					0.612	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		21	49	0	0	0	1	0	21	49				
LRRC27	80313	broad.mit.edu	37	10	134175067	134175067	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:134175067G>A	ENST00000368614.3	+	9	1382	c.1277G>A	c.(1276-1278)aGt>aAt	p.S426N	LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000432555.2_Missense_Mutation_p.S299N|LRRC27_ENST00000368612.1_Missense_Mutation_p.S364N|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.S426N|LRRC27_ENST00000368610.3_Missense_Mutation_p.S364N	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	426										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)		CCACAAGCAAGTAAAGAAATG	0.478																																						ENST00000368610.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1090-1092)aGt>aAt		leucine rich repeat containing 27							109.0	113.0	112.0					10																	134175067		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134175067G>A	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.1277G>A	10.37:g.134175067G>A	ENSP00000357603:p.Ser426Asn					LRRC27_ENST00000432555.2_Missense_Mutation_p.S299N|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.S364N|LRRC27_ENST00000368613.4_Missense_Mutation_p.S426N|LRRC27_ENST00000368614.3_Missense_Mutation_p.S426N|LRRC27_ENST00000392638.2_3'UTR	p.S364N			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1091	+		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)	426					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1091G>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556274	0.27827	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T	0.46063	2.48;2.48;4.26;4.26;0.88	3.36	-0.879	0.10613	.	0.496880	0.18421	N	0.141746	T	0.26195	0.0639	L	0.48642	1.525	0.09310	N	1	B;B;B	0.24368	0.102;0.102;0.034	B;B;B	0.22152	0.038;0.038;0.017	T	0.13045	-1.0524	10	0.21540	T	0.41	-2.5946	2.586	0.04830	0.1077:0.3478:0.3665:0.178	.	299;364;426	B4DW88;Q9C0I9-2;Q9C0I9	.;.;LRC27_HUMAN	N	426;426;364;364;299	ENSP00000357603:S426N;ENSP00000357602:S426N;ENSP00000357601:S364N;ENSP00000357599:S364N;ENSP00000407949:S299N	ENSP00000357599:S364N	S	+	2	0	LRRC27	134025057	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.418000	0.07080	-0.169000	0.10834	-0.152000	0.13540	AGT		0.478	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		31	17	0	0	0	1	0	31	17				
ARHGAP17	55114	broad.mit.edu	37	16	24964251	24964251	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:24964251C>T	ENST00000289968.6	-	11	1034		c.e11+1		ARHGAP17_ENST00000575975.1_5'Flank|ARHGAP17_ENST00000303665.5_Splice_Site|ARHGAP17_ENST00000441763.2_Splice_Site	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTGGCGCTCACCTGCTACAGC	0.493																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.e11+1		Rho GTPase activating protein 17							89.0	88.0	88.0					16																	24964251		2197	4300	6497	SO:0001630	splice_region_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24964251C>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.964+1G>A	16.37:g.24964251C>T						ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site		NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	11	1034	-								A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Splice_Site	SNP	ENST00000289968.6	37		CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158030	0.78114	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.849	0.88739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP17	24871752	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.392000	0.79840	2.812000	0.96745	0.557000	0.71058	.		0.493	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054	Intron	38	50	0	0	0	1	0	38	50				
MYO10	4651	broad.mit.edu	37	5	16769280	16769280	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16769280C>T	ENST00000513610.1	-	10	1417	c.963G>A	c.(961-963)gaG>gaA	p.E321E		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	321	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)			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						CCCGAACTTCCTCCTTGCTGA	0.413																																						ENST00000513610.1																			0				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						c.(961-963)gaG>gaA		myosin X							107.0	98.0	100.0					5																	16769280		1918	4133	6051	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16769280C>T	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.963G>A	5.37:g.16769280C>T							p.E321E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			10	1417	-			321			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.963G>A	CCDS54834.1																																																																																				0.413	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		5	10	0	0	0	1	0	5	10				
ZFYVE9	9372	broad.mit.edu	37	1	52703760	52703760	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:52703760G>A	ENST00000371591.1	+	3	802	c.671G>A	c.(670-672)aGa>aAa	p.R224K	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R224K|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.R224K	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	224					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACAGAGGGGAGATCTGTTAAC	0.393																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(670-672)aGa>aAa		zinc finger, FYVE domain containing 9							99.0	101.0	100.0					1																	52703760		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703760G>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.671G>A	1.37:g.52703760G>A	ENSP00000360647:p.Arg224Lys					ZFYVE9_ENST00000361625.1_Missense_Mutation_p.R224K|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R224K|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.R224K	p.R224K	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	843	+			224					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.671G>A	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	3.593	-0.083193	0.07141	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.12	1.57	0.23409	.	0.631054	0.14746	N	0.300885	T	0.17152	0.0412	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.14012	0.009;0.0;0.0	B;B;B	0.11329	0.006;0.0;0.0	T	0.22906	-1.0203	10	0.27785	T	0.31	.	7.9406	0.29957	0.7692:0.0:0.2308:0.0	.	224;224;224	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	K	224	ENSP00000349737:R224K;ENSP00000355358:R224K;ENSP00000287727:R224K;ENSP00000360647:R224K	ENSP00000287727:R224K	R	+	2	0	ZFYVE9	52476348	0.995000	0.38212	0.409000	0.26459	0.034000	0.12701	0.621000	0.24418	0.105000	0.17753	-1.004000	0.02495	AGA		0.393	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		47	105	0	0	0	1	0	47	105				
CBX2	84733	broad.mit.edu	37	17	77757722	77757722	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:77757722C>T	ENST00000310942.4	+	5	584	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	160					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)			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)			AGGATCCCATCCGGAAGAAGC	0.642																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(478-480)atC>atT		chromobox homolog 2							45.0	48.0	47.0					17																	77757722		2199	4300	6499	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77757722C>T	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.480C>T	17.37:g.77757722C>T							p.I160I	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	584	+			160					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.480C>T	CCDS32757.1																																																																																				0.642	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		13	34	0	0	0	1	0	13	34				
FEM1C	56929	broad.mit.edu	37	5	114860814	114860814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:114860814C>T	ENST00000274457.3	-	3	1606	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	349					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CCAGAGTCTGCATAGACAGCG	0.423																																						ENST00000274457.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1045-1047)Gca>Aca		fem-1 homolog c (C. elegans)							101.0	101.0	101.0					5																	114860814		2202	4300	6502	SO:0001583	missense	56929					cytoplasm		g.chr5:114860814C>T		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1045G>A	5.37:g.114860814C>T	ENSP00000274457:p.Ala349Thr						p.A349T	NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	3	1606	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	349					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	c.1045G>A	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458458	0.84317	.	.	ENSG00000145780	ENST00000274457	T	0.74106	-0.81	5.55	5.55	0.83447	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91402	0.5144	10	0.72032	D	0.01	-15.63	19.502	0.95098	0.0:1.0:0.0:0.0	.	349	Q96JP0	FEM1C_HUMAN	T	349	ENSP00000274457:A349T	ENSP00000274457:A349T	A	-	1	0	FEM1C	114888713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.602000	0.87976	0.655000	0.94253	GCA		0.423	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		46	74	0	0	0	1	0	46	74				
FEZ1	9638	broad.mit.edu	37	11	125359395	125359395	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:125359395G>A	ENST00000278919.3	-	2	513	c.279C>T	c.(277-279)atC>atT	p.I93I	FEZ1_ENST00000524435.1_Silent_p.I93I|FEZ1_ENST00000366139.3_Silent_p.I93I	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	93					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CCTCCTCTTGGATCTGTAACT	0.493																																					Melanoma(180;509 2033 10762 15939 24711)	ENST00000278919.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(277-279)atC>atT		fasciculation and elongation protein zeta 1 (zygin I)							141.0	133.0	136.0					11																	125359395		2201	4299	6500	SO:0001819	synonymous_variant	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359395G>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.279C>T	11.37:g.125359395G>A						FEZ1_ENST00000366139.3_Silent_p.I93I|FEZ1_ENST00000524435.1_Silent_p.I93I	p.I93I	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	513	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	93					O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	c.279C>T	CCDS31716.1																																																																																				0.493	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		4	115	0	0	0	1	0	4	115				
RLF	6018	broad.mit.edu	37	1	40701518	40701518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:40701518C>T	ENST00000372771.4	+	8	1171	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	382					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGCTCTTCAACTCAGATCAAG	0.373																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(1144-1146)Ctc>Ttc		rearranged L-myc fusion							84.0	87.0	86.0					1																	40701518		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701518C>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1144C>T	1.37:g.40701518C>T	ENSP00000361857:p.Leu382Phe						p.L382F	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1171	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	382					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.1144C>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358493	0.41801	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.48836	0.8	6.07	5.1	0.69264	.	0.102411	0.64402	D	0.000003	T	0.58061	0.2096	L	0.55990	1.75	0.43632	D	0.996026	D;D	0.59767	0.975;0.986	P;P	0.56823	0.807;0.741	T	0.59888	-0.7369	10	0.87932	D	0	-7.0795	14.0669	0.64837	0.2518:0.7482:0.0:0.0	.	75;382	F5H2M5;Q13129	.;RLF_HUMAN	F	382;75	ENSP00000361857:L382F	ENSP00000361857:L382F	L	+	1	0	RLF	40474105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.042000	0.41222	2.885000	0.99019	0.655000	0.94253	CTC		0.373	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		26	68	0	0	0	1	0	26	68				
SH2B1	25970	broad.mit.edu	37	16	28883646	28883646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28883646G>A	ENST00000322610.8	+	9	2088	c.1649G>A	c.(1648-1650)gGt>gAt	p.G550D	SH2B1_ENST00000545570.1_Missense_Mutation_p.G240D|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.G550D|SH2B1_ENST00000538342.1_Missense_Mutation_p.G214D|SH2B1_ENST00000359285.5_Missense_Mutation_p.G550D|SH2B1_ENST00000395532.4_Missense_Mutation_p.G550D			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	550	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGCTCCCACGGTGTCTTCCTG	0.622																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1648-1650)gGt>gAt		SH2B adaptor protein 1							52.0	52.0	52.0					16																	28883646		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883646G>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1649G>A	16.37:g.28883646G>A	ENSP00000321221:p.Gly550Asp					SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.G550D|SH2B1_ENST00000322610.8_Missense_Mutation_p.G550D|SH2B1_ENST00000545570.1_Missense_Mutation_p.G240D|SH2B1_ENST00000538342.1_Missense_Mutation_p.G214D|SH2B1_ENST00000359285.5_Missense_Mutation_p.G550D	p.G550D	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			6	4940	+			550			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.1649G>A	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221470	0.79464	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	D;D;D;D;D;D	0.99541	-6.12;-6.12;-6.12;-6.12;-6.12;-6.12	5.23	4.28	0.50868	SH2 motif (5);	0.210185	0.38272	N	0.001760	D	0.99799	0.9914	H	0.99156	4.45	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.991;1.0;1.0;1.0	D	0.96872	0.9640	10	0.87932	D	0	-31.9844	12.1635	0.54117	0.0842:0.0:0.9158:0.0	.	214;240;550;550;550	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	D	550;240;550;214;550;550	ENSP00000321221:G550D;ENSP00000440354:G240D;ENSP00000352232:G550D;ENSP00000438784:G214D;ENSP00000378903:G550D;ENSP00000337163:G550D	ENSP00000321221:G550D	G	+	2	0	SH2B1	28791147	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.508000	0.81686	2.436000	0.82500	0.655000	0.94253	GGT		0.622	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		16	28	0	0	0	1	0	16	28				
JAK1	3716	broad.mit.edu	37	1	65300288	65300288	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:65300288C>T	ENST00000342505.4	-	25	3670	c.3422G>A	c.(3421-3423)aGc>aAc	p.S1141N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1141	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			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)	GTTCTGAAAGCTTGTCCGATT	0.338			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				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						c.(3421-3423)aGc>aAc		Janus kinase 1							110.0	105.0	106.0					1																	65300288		1806	4072	5878	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65300288C>T	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.3422G>A	1.37:g.65300288C>T	ENSP00000343204:p.Ser1141Asn						p.S1141N	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	25	3670	-			1141			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.3422G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565827	0.45694	.	.	ENSG00000162434	ENST00000342505	D	0.90385	-2.66	5.01	4.1	0.47936	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81678	0.4873	L	0.51422	1.61	0.27569	N	0.949954	B	0.02656	0.0	B	0.04013	0.001	T	0.75351	-0.3348	9	0.46703	T	0.11	-1.2859	15.3932	0.74767	0.0:0.1456:0.8543:0.0	.	1141	P23458	JAK1_HUMAN	N	1141	ENSP00000343204:S1141N	ENSP00000343204:S1141N	S	-	2	0	JAK1	65072876	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.281000	0.51685	1.332000	0.45431	-0.171000	0.13296	AGC		0.338	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		13	62	0	0	0	1	0	13	62				
CHST12	55501	broad.mit.edu	37	7	2472971	2472971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:2472971G>A	ENST00000258711.6	+	2	832	c.697G>A	c.(697-699)Gtc>Atc	p.V233I		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	233					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCTCATGAAGGTCAAGCTCAA	0.617																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(697-699)Gtc>Atc		carbohydrate (chondroitin 4) sulfotransferase 12							74.0	57.0	63.0					7																	2472971		2203	4297	6500	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472971G>A	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.697G>A	7.37:g.2472971G>A	ENSP00000258711:p.Val233Ile						p.V233I	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	832	+		Ovarian(82;0.0253)	233					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.697G>A	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	3.434	-0.115524	0.06881	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.74632	-0.86;-0.86	5.27	-10.5	0.00291	.	0.591583	0.17727	N	0.164016	T	0.34571	0.0902	N	0.02674	-0.535	0.22591	N	0.998958	B	0.06786	0.001	B	0.12156	0.007	T	0.31364	-0.9946	10	0.22109	T	0.4	-8.1352	5.3332	0.15944	0.3447:0.1006:0.4563:0.0984	.	233	Q9NRB3	CHSTC_HUMAN	I	233	ENSP00000258711:V233I;ENSP00000411207:V233I	ENSP00000258711:V233I	V	+	1	0	CHST12	2439497	0.981000	0.34729	0.045000	0.18777	0.953000	0.61014	0.241000	0.18065	-2.629000	0.00435	-0.379000	0.06801	GTC		0.617	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		23	71	0	0	0	1	0	23	71				
TP73-AS1	57212	broad.mit.edu	37	1	3662520	3662520	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:3662520C>T	ENST00000452079.1	-	0	1366				TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000608600.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											TGAAAGGTGGCCGGTGGAGGC	0.592																																						ENST00000452079.1																			0																				80.0	91.0	87.0					1																	3662520		2124	4240	6364			0							g.chr1:3662520C>T			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662520C>T						TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA		NR_033711.1						0	1366	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.592	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		17	92	0	0	0	1	0	17	92				
CPS1	1373	broad.mit.edu	37	2	211465297	211465297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:211465297G>A	ENST00000233072.5	+	15	1764	c.1568G>A	c.(1567-1569)aGa>aAa	p.R523K	CPS1_ENST00000451903.2_Missense_Mutation_p.R72K|CPS1_ENST00000430249.2_Missense_Mutation_p.R529K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	523					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTATTCAAGAGAGGTGTGCTC	0.363																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(1567-1569)aGa>aAa		carbamoyl-phosphate synthase 1, mitochondrial							112.0	110.0	111.0					2																	211465297		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211465297G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1568G>A	2.37:g.211465297G>A	ENSP00000233072:p.Arg523Lys					CPS1_ENST00000430249.2_Missense_Mutation_p.R529K|CPS1_ENST00000451903.2_Missense_Mutation_p.R72K	p.R523K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	15	1764	+			523					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1568G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	6.946	0.544331	0.13312	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97279	-4.32;-4.32;-4.32	5.09	5.09	0.68999	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.205262	0.50627	D	0.000109	D	0.90314	0.6970	N	0.11560	0.145	0.37244	D	0.906265	B;B	0.23990	0.095;0.095	B;B	0.20955	0.032;0.032	D	0.87302	0.2306	10	0.06236	T	0.91	-24.2574	12.7348	0.57216	0.0865:0.0:0.9135:0.0	.	533;523	Q59HF8;P31327	.;CPSM_HUMAN	K	529;531;523;72	ENSP00000402608:R529K;ENSP00000233072:R523K;ENSP00000406136:R72K	ENSP00000233072:R523K	R	+	2	0	CPS1	211173542	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.205000	0.72148	2.519000	0.84933	0.460000	0.39030	AGA		0.363	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			29	72	0	0	0	1	0	29	72				
SRRT	51593	broad.mit.edu	37	7	100485671	100485671	+	Missense_Mutation	SNP	C	C	T	rs201575972		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100485671C>T	ENST00000347433.4	+	18	2493	c.2335C>T	c.(2335-2337)Cca>Tca	p.P779S	SRRT_ENST00000388793.4_Missense_Mutation_p.P778S|SRRT_ENST00000457580.2_Intron|SRRT_ENST00000432932.1_Intron			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	779	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGTACTCCCCCCAGGTTTGAC	0.612																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2332-2334)Cca>Tca		serrate RNA effector molecule homolog (Arabidopsis)							44.0	48.0	47.0					7																	100485671		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100485671C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2335C>T	7.37:g.100485671C>T	ENSP00000314491:p.Pro779Ser					SRRT_ENST00000432932.1_Intron|SRRT_ENST00000347433.4_Missense_Mutation_p.P779S|SRRT_ENST00000457580.2_Intron	p.P778S	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			18	2552	+			779			Pro-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.2332C>T	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	9.260	1.042901	0.19748	.	.	ENSG00000087087	ENST00000388793;ENST00000342198;ENST00000347433;ENST00000448764;ENST00000445337	.	.	.	4.91	4.91	0.64330	Arsenite-resistance protein 2 (1);	0.223036	0.37623	N	0.002007	T	0.44829	0.1312	L	0.36672	1.1	0.41612	D	0.988917	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.008	T	0.32455	-0.9906	9	0.11485	T	0.65	.	13.4477	0.61151	0.0:1.0:0.0:0.0	.	778;779	Q9BXP5-3;Q9BXP5	.;SRRT_HUMAN	S	778;144;779;409;56	.	ENSP00000344670:P144S	P	+	1	0	SRRT	100323607	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.879000	0.39618	2.545000	0.85829	0.484000	0.47621	CCA		0.612	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		5	90	0	0	0	1	0	5	90				
LPHN1	22859	broad.mit.edu	37	19	14273625	14273625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:14273625C>T	ENST00000340736.6	-	6	1300	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	LPHN1_ENST00000591528.1_5'Flank|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.D330N|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	335	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCGCTGTCATCATCCACGTAC	0.607																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1003-1005)Gat>Aat		latrophilin 1							138.0	92.0	108.0					19																	14273625		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273625C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1003G>A	19.37:g.14273625C>T	ENSP00000340688:p.Asp335Asn					CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.D330N	p.D335N	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			6	1300	-			335			Olfactomedin-like.		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.1003G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	5.915	0.352897	0.11182	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.89875	-2.58;-2.58	4.96	4.96	0.65561	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	N	0.10782	0.045	0.51233	D	0.999914	B;B	0.32507	0.019;0.373	B;B	0.37550	0.035;0.253	T	0.77253	-0.2656	10	0.14656	T	0.56	.	15.6767	0.77332	0.0:1.0:0.0:0.0	.	330;335	O94910-2;O94910	.;LPHN1_HUMAN	N	335;330	ENSP00000340688:D335N;ENSP00000355328:D330N	ENSP00000340688:D335N	D	-	1	0	LPHN1	14134625	0.351000	0.24887	0.985000	0.45067	0.130000	0.20726	1.003000	0.29809	2.277000	0.76020	0.561000	0.74099	GAT		0.607	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		17	26	0	0	0	1	0	17	26				
HERC1	8925	broad.mit.edu	37	15	64005671	64005671	+	Silent	SNP	C	C	T	rs200493456		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:64005671C>T	ENST00000443617.2	-	23	4431	c.4344G>A	c.(4342-4344)cgG>cgA	p.R1448R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1448					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACAGGGCACACCGATGGATCA	0.502																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(4342-4344)cgG>cgA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							104.0	103.0	103.0					15																	64005671		2079	4212	6291	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64005671C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4344G>A	15.37:g.64005671C>T						RP11-317G6.1_ENST00000559303.2_RNA	p.R1448R	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			23	4431	-			1448					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.4344G>A	CCDS45277.1																																																																																				0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		22	59	0	0	0	1	0	22	59				
SLC2A4	6517	broad.mit.edu	37	17	7187830	7187830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7187830G>A	ENST00000317370.8	+	7	1022	c.754G>A	c.(754-756)Gat>Aat	p.D252N	SLC2A4_ENST00000571308.1_Missense_Mutation_p.D252N|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Missense_Mutation_p.D242N	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	252					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGGCTGGGCCGATGTTTCTGG	0.637																																						ENST00000317370.8																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(754-756)Gat>Aat		solute carrier family 2 (facilitated glucose transporter), member 4							46.0	49.0	48.0					17																	7187830		2203	4300	6503	SO:0001583	missense	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7187830G>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.754G>A	17.37:g.7187830G>A	ENSP00000320935:p.Asp252Asn					SLC2A4_ENST00000424875.2_Missense_Mutation_p.D242N|SLC2A4_ENST00000571308.1_Missense_Mutation_p.D252N	p.D252N	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN			7	1022	+			252					Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.754G>A	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738075	0.69304	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.76060	-0.99;-0.99	4.88	4.88	0.63580	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057195	0.64402	D	0.000002	T	0.71264	0.3319	M	0.71920	2.185	0.80722	D	1	P;P	0.40083	0.702;0.693	B;B	0.33568	0.166;0.064	T	0.75249	-0.3384	10	0.45353	T	0.12	.	15.5629	0.76262	0.0:0.0:1.0:0.0	.	252;242	P14672;F5H081	GTR4_HUMAN;.	N	252;242	ENSP00000320935:D252N;ENSP00000396887:D242N	ENSP00000320935:D252N	D	+	1	0	SLC2A4	7128554	1.000000	0.71417	0.830000	0.32933	0.886000	0.51366	7.765000	0.85310	2.535000	0.85469	0.655000	0.94253	GAT		0.637	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			20	43	0	0	0	1	0	20	43				
MTIF2	4528	broad.mit.edu	37	2	55489563	55489563	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:55489563C>T	ENST00000263629.4	-	5	535	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	MTIF2_ENST00000403721.1_Splice_Site_p.E74K|MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000394600.3_Splice_Site_p.E74K	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	74					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GGTCCTTCTTCCTATTAAAAA	0.323																																						ENST00000394600.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.e6-1		mitochondrial translational initiation factor 2							126.0	132.0	130.0					2																	55489563		2203	4300	6503	SO:0001630	splice_region_variant	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55489563C>T	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.220-1G>A	2.37:g.55489563C>T						MTIF2_ENST00000403721.1_Splice_Site_p.E74_splice|MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000263629.4_Splice_Site_p.E74_splice	p.E74_splice	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN			6	956	-			74					D6W5D0	Splice_Site	SNP	ENST00000263629.4	37	c.219_splice	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680655	0.47886	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.58652	0.32;0.32;0.32	5.79	4.91	0.64330	.	0.292775	0.33813	N	0.004533	T	0.46229	0.1382	L	0.38175	1.15	0.42249	D	0.991962	B	0.19935	0.04	B	0.12837	0.008	T	0.37526	-0.9702	10	0.33141	T	0.24	-26.9661	11.6403	0.51228	0.0:0.8579:0.0:0.1421	.	74	P46199	IF2M_HUMAN	K	74	ENSP00000384481:E74K;ENSP00000263629:E74K;ENSP00000378099:E74K	ENSP00000263629:E74K	E	-	1	0	MTIF2	55343067	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.083000	0.41615	1.436000	0.47453	0.563000	0.77884	GAA		0.323	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453	Missense_Mutation	25	58	0	0	0	1	0	25	58				
RCOR1	23186	broad.mit.edu	37	14	103188668	103188668	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:103188668G>A	ENST00000570597.1	+	11	1325	c.1325G>A	c.(1324-1326)gGt>gAt	p.G442D	RCOR1_ENST00000262241.6_Missense_Mutation_p.G445D			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	442					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GCAGAACATGGTAAAGAAGAG	0.413																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(1333-1335)gGt>gAt		REST corepressor 1							127.0	137.0	133.0					14																	103188668		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103188668G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.1325G>A	14.37:g.103188668G>A	ENSP00000459789:p.Gly442Asp					RCOR1_ENST00000570597.1_Missense_Mutation_p.G442D	p.G445D	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			11	1560	+			442					Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.1334G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.395553	0.96009	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76380	-0.2980	9	0.59425	D	0.04	-23.4158	19.9357	0.97140	0.0:0.0:1.0:0.0	.	442	Q9UKL0	RCOR1_HUMAN	D	442	.	ENSP00000262241:G442D	G	+	2	0	RCOR1	102258421	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	9.623000	0.98386	2.715000	0.92844	0.655000	0.94253	GGT		0.413	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		5	119	0	0	0	1	0	5	119				
FOXD4L1	200350	broad.mit.edu	37	2	114257488	114257488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:114257488C>T	ENST00000306507.5	+	1	828	c.655C>T	c.(655-657)Cct>Tct	p.P219S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	219	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCACCCCTTCCCTCTACCTGC	0.692																																						ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(655-657)Cct>Tct		forkhead box D4-like 1							15.0	21.0	19.0					2																	114257488		1151	2414	3565	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257488C>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.655C>T	2.37:g.114257488C>T	ENSP00000302756:p.Pro219Ser						p.P219S	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	828	+			219			Pro-rich.		B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.655C>T	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.292032	0.59976	.	.	ENSG00000184492	ENST00000306507	D	0.95205	-3.64	1.82	1.82	0.25136	.	.	.	.	.	D	0.93119	0.7809	L	0.34521	1.04	0.23620	N	0.997279	D	0.63880	0.993	D	0.70227	0.968	D	0.84386	0.0552	9	0.22109	T	0.4	.	4.3373	0.11092	0.0:0.7995:0.0:0.2005	.	219	Q9NU39	FX4L1_HUMAN	S	219	ENSP00000302756:P219S	ENSP00000302756:P219S	P	+	1	0	FOXD4L1	113973958	0.000000	0.05858	0.787000	0.31911	0.630000	0.37929	0.243000	0.18106	1.356000	0.45884	0.184000	0.17185	CCT		0.692	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		36	59	0	0	0	1	0	36	59				
PCLO	27445	broad.mit.edu	37	7	82474673	82474673	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:82474673G>A	ENST00000333891.9	-	13	14297	c.13960C>T	c.(13960-13962)Cct>Tct	p.P4654S	PCLO_ENST00000423517.2_Missense_Mutation_p.P4654S|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGATGTAGGACCTGAATGA	0.517																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13960-13962)Cct>Tct		piccolo presynaptic cytomatrix protein							88.0	88.0	88.0					7																	82474673		2009	4169	6178	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474673G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13960C>T	7.37:g.82474673G>A	ENSP00000334319:p.Pro4654Ser					PCLO_ENST00000333891.8_Missense_Mutation_p.P4654S|PCLO_ENST00000426442.2_5'UTR	p.P4654S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			13	14297	-			4542			C2 1.			Missense_Mutation	SNP	ENST00000333891.9	37	c.13960C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083175	0.36758	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.15603	2.41;2.42	5.64	5.64	0.86602	.	.	.	.	.	T	0.22975	0.0555	L	0.36672	1.1	0.80722	D	1	P;P;B;B	0.51537	0.946;0.946;0.073;0.043	P;P;B;B	0.51453	0.67;0.67;0.037;0.016	T	0.00181	-1.1947	9	0.87932	D	0	.	13.0764	0.59089	0.0:0.0:0.7368:0.2632	.	4654;4654;84;151	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	S	4654;4654;150	ENSP00000334319:P4654S;ENSP00000388393:P4654S	ENSP00000334319:P4654S	P	-	1	0	PCLO	82312609	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	2.098000	0.41757	2.816000	0.96949	0.561000	0.74099	CCT		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		3	48	0	0	0	1	0	3	48				
KLK6	5653	broad.mit.edu	37	19	51470480	51470480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:51470480C>T	ENST00000376851.3	-	3	581	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	KLK6_ENST00000594641.1_Missense_Mutation_p.G48S|CTB-147C22.9_ENST00000594512.1_RNA|KLK6_ENST00000376853.4_Missense_Mutation_p.G48S|KLK6_ENST00000310157.2_Missense_Mutation_p.G48S|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000424910.2_Intron	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	48	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGGACCCCACCACAGAGCAAG	0.557																																						ENST00000376851.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(142-144)Ggt>Agt		kallikrein-related peptidase 6							116.0	105.0	109.0					19																	51470480		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51470480C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.142G>A	19.37:g.51470480C>T	ENSP00000366047:p.Gly48Ser					KLK6_ENST00000310157.2_Missense_Mutation_p.G48S|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.G48S|KLK6_ENST00000376853.4_Missense_Mutation_p.G48S|KLK6_ENST00000391808.1_5'UTR	p.G48S	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	3	581	-		all_neural(266;0.026)	48			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.142G>A	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363350	0.61513	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000376853	D;D;D	0.93604	-3.25;-3.25;-3.25	4.31	4.31	0.51392	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36972	N	0.002305	D	0.96147	0.8744	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96424	0.9314	10	0.72032	D	0.01	.	14.6655	0.68904	0.0:1.0:0.0:0.0	.	48;48	E7ETY0;Q92876	.;KLK6_HUMAN	S	48	ENSP00000309148:G48S;ENSP00000366047:G48S;ENSP00000366049:G48S	ENSP00000309148:G48S	G	-	1	0	KLK6	56162292	0.994000	0.37717	0.408000	0.26446	0.236000	0.25371	4.656000	0.61483	2.393000	0.81446	0.555000	0.69702	GGT		0.557	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		5	70	0	0	0	1	0	5	70				
RALGAPA2	57186	broad.mit.edu	37	20	20591959	20591959	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:20591959C>T	ENST00000202677.7	-	14	1807	c.1800G>A	c.(1798-1800)agG>agA	p.R600R		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	600					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAAGACTTACCCTAAATAGTA	0.323																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.e14+1		Ral GTPase activating protein, alpha subunit 2 (catalytic)							173.0	162.0	165.0					20																	20591959		1828	4084	5912	SO:0001630	splice_region_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20591959C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1800+1G>A	20.37:g.20591959C>T							p.R600_splice	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			14	1942	-			600					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Splice_Site	SNP	ENST00000202677.7	37	c.1800_splice	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159707	0.38119	.	.	ENSG00000188559	ENST00000430436	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62632	-0.6813	4	.	.	.	.	12.1339	0.53959	0.0:0.9093:0.0:0.0907	.	.	.	.	E	417	.	.	G	-	2	0	RALGAPA2	20539959	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.780000	0.47742	2.280000	0.76307	0.467000	0.42956	GGA		0.323	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	Silent	11	157	0	0	0	1	0	11	157				
RPS6KA1	6195	broad.mit.edu	37	1	26888022	26888022	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:26888022C>T	ENST00000374168.2	+	17	1612	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	RPS6KA1_ENST00000526792.1_Silent_p.Y394Y|RPS6KA1_ENST00000374166.4_Silent_p.Y475Y|RPS6KA1_ENST00000530003.1_Silent_p.Y470Y|RPS6KA1_ENST00000531382.1_Silent_p.Y495Y|RPS6KA1_ENST00000374162.2_Silent_p.Y394Y	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	486	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AACACGTGTACCTGGTGACAG	0.602																																						ENST00000374168.2																			0				lung(1)	1						c.(1456-1458)taC>taT		ribosomal protein S6 kinase, 90kDa, polypeptide 1							195.0	173.0	180.0					1																	26888022		2203	4300	6503	SO:0001819	synonymous_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26888022C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1458C>T	1.37:g.26888022C>T						RPS6KA1_ENST00000530003.1_Silent_p.Y470Y|RPS6KA1_ENST00000526792.1_Silent_p.Y394Y|RPS6KA1_ENST00000531382.1_Silent_p.Y495Y|RPS6KA1_ENST00000374166.4_Silent_p.Y475Y|RPS6KA1_ENST00000374162.2_Silent_p.Y394Y	p.Y486Y	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	17	1612	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	486			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	c.1458C>T	CCDS284.1																																																																																				0.602	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		13	105	0	0	0	1	0	13	105				
RASD2	23551	broad.mit.edu	37	22	35947947	35947947	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:35947947G>A	ENST00000216127.4	+	3	1311	c.669G>A	c.(667-669)aaG>aaA	p.K223K		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	223	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GCCGCGTCAAGGAGATGGACG	0.642																																						ENST00000216127.4																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(667-669)aaG>aaA		RASD family, member 2							98.0	80.0	86.0					22																	35947947		2203	4300	6503	SO:0001819	synonymous_variant	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947947G>A	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.669G>A	22.37:g.35947947G>A							p.K223K	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1311	+			223			Interaction with GNB1, GNB2 and GNB3.		O95520|Q5THY8	Silent	SNP	ENST00000216127.4	37	c.669G>A	CCDS13916.1																																																																																				0.642	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		5	55	0	0	0	1	0	5	55				
BBS7	55212	broad.mit.edu	37	4	122782781	122782781	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:122782781C>T	ENST00000264499.4	-	4	402	c.219G>A	c.(217-219)ggG>ggA	p.G73G	BBS7_ENST00000506636.1_Silent_p.G73G	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	73					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGTTGATAACCCCTCCCAGTT	0.408									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(217-219)ggG>ggA		Bardet-Biedl syndrome 7							80.0	80.0	80.0					4																	122782781		2203	4300	6503	SO:0001819	synonymous_variant	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122782781C>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.219G>A	4.37:g.122782781C>T						BBS7_ENST00000506636.1_Silent_p.G73G	p.G73G	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			4	402	-			73					Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	ENST00000264499.4	37	c.219G>A	CCDS3724.1																																																																																				0.408	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			8	104	0	0	0	1	0	8	104				
ZNF804B	219578	broad.mit.edu	37	7	88964506	88964506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:88964506G>A	ENST00000333190.4	+	4	2819	c.2210G>A	c.(2209-2211)gGt>gAt	p.G737D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	737							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATAGCAGAGGTAATTTGCTC	0.393										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2209-2211)gGt>gAt		zinc finger protein 804B							93.0	88.0	90.0					7																	88964506		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964506G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2210G>A	7.37:g.88964506G>A	ENSP00000329638:p.Gly737Asp	HNSCC(36;0.09)					p.G737D	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2819	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		737					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2210G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	0.711	-0.786986	0.02907	.	.	ENSG00000182348	ENST00000333190	T	0.04360	3.64	5.35	3.4	0.38934	.	0.655088	0.15263	N	0.271686	T	0.03871	0.0109	N	0.17082	0.46	0.09310	N	1	B	0.18461	0.028	B	0.17433	0.018	T	0.39440	-0.9614	10	0.34782	T	0.22	-4.03	11.9534	0.52968	0.2107:0.0:0.7893:0.0	.	737	A4D1E1	Z804B_HUMAN	D	737	ENSP00000329638:G737D	ENSP00000329638:G737D	G	+	2	0	ZNF804B	88802442	0.073000	0.21202	0.003000	0.11579	0.024000	0.10985	1.978000	0.40598	1.488000	0.48433	0.555000	0.69702	GGT		0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		12	93	0	0	0	1	0	12	93				
ATP2C2	9914	broad.mit.edu	37	16	84438851	84438851	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:84438851G>A	ENST00000262429.4	+	3	416		c.e3+1		ATP2C2_ENST00000416219.2_Splice_Site	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCTGGATCAGGTAGGACCAGA	0.532																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.e3+1		ATPase, Ca++ transporting, type 2C, member 2							54.0	59.0	57.0					16																	84438851		2050	4212	6262	SO:0001630	splice_region_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84438851G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.327+1G>A	16.37:g.84438851G>A						ATP2C2_ENST00000262429.4_Splice_Site				O75185	AT2C2_HUMAN			3	416	+								B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Splice_Site	SNP	ENST00000262429.4	37		CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434702	0.62955	.	.	ENSG00000064270	ENST00000416219;ENST00000262429	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8005	0.78450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP2C2	82996352	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.130000	0.77235	2.381000	0.81170	0.591000	0.81541	.		0.532	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861	Intron	14	25	0	0	0	1	0	14	25				
GPBAR1	151306	broad.mit.edu	37	2	219127812	219127812	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219127812G>A	ENST00000522678.1	+	2	1233	c.365G>A	c.(364-366)gGg>gAg	p.G122E	GPBAR1_ENST00000521462.1_Missense_Mutation_p.G122E|GPBAR1_ENST00000479077.1_Missense_Mutation_p.G122E|GPBAR1_ENST00000519574.1_Missense_Mutation_p.G122E	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	122					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)			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)		CAGCCCCCTGGGAGCATTCGG	0.647																																						ENST00000522678.1																			0				cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(364-366)gGg>gAg		G protein-coupled bile acid receptor 1							52.0	57.0	56.0					2																	219127812		2098	4225	6323	SO:0001583	missense	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219127812G>A	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.365G>A	2.37:g.219127812G>A	ENSP00000430886:p.Gly122Glu					GPBAR1_ENST00000479077.1_Missense_Mutation_p.G122E|GPBAR1_ENST00000521462.1_Missense_Mutation_p.G122E|GPBAR1_ENST00000519574.1_Missense_Mutation_p.G122E	p.G122E	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1233	+		Renal(207;0.0474)	122					B3KV35	Missense_Mutation	SNP	ENST00000522678.1	37	c.365G>A	CCDS46515.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269950	0.40095	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.077112	0.52532	U	0.000067	T	0.42291	0.1196	L	0.38175	1.15	0.26621	N	0.972648	D	0.63880	0.993	P	0.58620	0.842	T	0.34229	-0.9837	10	0.07175	T	0.84	-9.4886	17.5575	0.87896	0.0:0.0:1.0:0.0	.	122	Q8TDU6	GPBAR_HUMAN	E	122	ENSP00000430698:G122E;ENSP00000430886:G122E;ENSP00000430202:G122E;ENSP00000428824:G122E	ENSP00000430698:G122E	G	+	2	0	GPBAR1	218836056	1.000000	0.71417	0.054000	0.19295	0.973000	0.67179	5.023000	0.64084	2.677000	0.91161	0.561000	0.74099	GGG		0.647	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191		6	65	0	0	0	1	0	6	65				
IQCF2	389123	broad.mit.edu	37	3	51897141	51897141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51897141G>A	ENST00000333127.3	+	3	279	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	84										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTGTCGAGGGTGCTGGAGAA	0.627																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(250-252)Gtg>Atg		IQ motif containing F2							93.0	89.0	90.0					3																	51897141		2203	4300	6503	SO:0001583	missense	389123							g.chr3:51897141G>A	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.250G>A	3.37:g.51897141G>A	ENSP00000329904:p.Val84Met					IQCF2_ENST00000429548.1_3'UTR	p.V84M	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	279	+			84						Missense_Mutation	SNP	ENST00000333127.3	37	c.250G>A	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232520	0.22626	.	.	ENSG00000184345	ENST00000333127	T	0.71579	-0.58	5.09	-2.31	0.06765	.	2.008250	0.02194	N	0.061670	T	0.45094	0.1325	N	0.03608	-0.345	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.31052	-0.9957	10	0.36615	T	0.2	-1.6803	4.2121	0.10517	0.5823:0.2169:0.1138:0.0871	.	84	Q8IXL9	IQCF2_HUMAN	M	84	ENSP00000329904:V84M	ENSP00000329904:V84M	V	+	1	0	IQCF2	51872181	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.853000	0.04303	-0.274000	0.09232	-1.058000	0.02302	GTG		0.627	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		22	53	0	0	0	1	0	22	53				
AKAP8	10270	broad.mit.edu	37	19	15483983	15483983	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:15483983C>T	ENST00000269701.2	-	5	600	c.540G>A	c.(538-540)cgG>cgA	p.R180R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	180					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CAAGGGAGCCCCGCTCCCGGG	0.682																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(538-540)cgG>cgA		A kinase (PRKA) anchor protein 8							19.0	24.0	22.0					19																	15483983		2202	4294	6496	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15483983C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.540G>A	19.37:g.15483983C>T							p.R180R	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			5	600	-			180						Silent	SNP	ENST00000269701.2	37	c.540G>A	CCDS12329.1																																																																																				0.682	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		3	35	0	0	0	1	0	3	35				
NCOA4	8031	broad.mit.edu	37	10	51584849	51584849	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51584849G>A	ENST00000443446.1	+	8	1177	c.948G>A	c.(946-948)aaG>aaA	p.K316K	NCOA4_ENST00000344348.6_Silent_p.K316K|NCOA4_ENST00000452682.1_Silent_p.K332K|NCOA4_ENST00000374087.4_Silent_p.K316K|NCOA4_ENST00000438493.1_Silent_p.K332K|NCOA4_ENST00000414907.2_Silent_p.K150K|NCOA4_ENST00000374082.1_Silent_p.K316K|NCOA4_ENST00000430396.2_Silent_p.K216K	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	316					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AGCTGCGGAAGCCTGAGAATG	0.448			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(994-996)aaG>aaA		nuclear receptor coactivator 4							83.0	83.0	83.0					10																	51584849		2203	4300	6503	SO:0001819	synonymous_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584849G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.948G>A	10.37:g.51584849G>A						NCOA4_ENST00000443446.1_Silent_p.K316K|NCOA4_ENST00000438493.1_Silent_p.K332K|NCOA4_ENST00000374087.4_Silent_p.K316K|NCOA4_ENST00000374082.1_Silent_p.K316K|NCOA4_ENST00000414907.2_Silent_p.K150K|NCOA4_ENST00000344348.6_Silent_p.K316K|NCOA4_ENST00000430396.2_Silent_p.K216K	p.K332K	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1248	+			316					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	37	c.996G>A	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	1.348	-0.592169	0.03799	.	.	ENSG00000138293	ENST00000431200	.	.	.	5.5	4.6	0.57074	.	.	.	.	.	T	0.60495	0.2273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58989	-0.7538	4	.	.	.	-23.1655	9.9657	0.41723	0.0901:0.0:0.9099:0.0	.	.	.	.	T	232	.	.	A	+	1	0	NCOA4	51254855	0.755000	0.28372	0.994000	0.49952	0.313000	0.28021	0.496000	0.22499	1.564000	0.49628	0.655000	0.94253	GCC		0.448	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		36	64	0	0	0	1	0	36	64				
DDX20	11218	broad.mit.edu	37	1	112304954	112304954	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:112304954G>A	ENST00000369702.4	+	8	1719	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	367	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTTCCACAGATTTGGTAAA	0.353																																						ENST00000369702.4																			0				endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21						c.(1099-1101)Gat>Aat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							179.0	168.0	172.0					1																	112304954		2203	4300	6503	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112304954G>A	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1099G>A	1.37:g.112304954G>A	ENSP00000358716:p.Asp367Asn					DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	p.D367N	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1719	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	367			Helicase C-terminal.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.1099G>A	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190091	0.94923	.	.	ENSG00000064703	ENST00000369702	T	0.05925	3.37	5.79	5.79	0.91817	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00456	-1.1728	10	0.87932	D	0	-29.5982	19.6321	0.95713	0.0:0.0:1.0:0.0	.	367	Q9UHI6	DDX20_HUMAN	N	367	ENSP00000358716:D367N	ENSP00000358716:D367N	D	+	1	0	DDX20	112106477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.136000	0.94489	2.734000	0.93682	0.655000	0.94253	GAT		0.353	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		22	51	0	0	0	1	0	22	51				
TRIAP1	51499	broad.mit.edu	37	12	120884600	120884600	+	5'Flank	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120884600G>A	ENST00000546954.1	-	0	0				AL021546.6_ENST00000551806.1_Missense_Mutation_p.G106S|GATC_ENST00000551765.1_Silent_p.G74G|TRIAP1_ENST00000302432.3_5'Flank	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACAGACGGGGTGGAGCCCA	0.637																																						ENST00000551806.1																			0											c.(316-318)Ggt>Agt									34.0	38.0	37.0					12																	120884600		2200	4299	6499	SO:0001631	upstream_gene_variant	0							g.chr12:120884600G>A		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"""p53-inducible cell-survival factor"", ""mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"""	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884600G>A	Exception_encountered					GATC_ENST00000551765.1_Silent_p.G74G	p.G106S							3	316	+								B2R4Z7|Q5RKS5|Q6LCA7	Missense_Mutation	SNP	ENST00000546954.1	37	c.316G>A	CCDS9198.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545686	0.27652	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.08	-5.74	0.02391	.	0.114600	0.64402	D	0.000011	T	0.50480	0.1618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50508	-0.8820	6	0.54805	T	0.06	-25.0995	3.3788	0.07247	0.3489:0.3169:0.2519:0.0823	.	.	.	.	S	106	.	ENSP00000450281:G106S	G	+	1	0	GATC	119368983	0.001000	0.12720	0.645000	0.29479	0.852000	0.48524	-1.775000	0.01783	-0.888000	0.03956	0.644000	0.83932	GGT		0.637	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108980.3	NM_016399		10	54	0	0	0	1	0	10	54				
FBN1	2200	broad.mit.edu	37	15	48787319	48787319	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:48787319C>T	ENST00000316623.5	-	22	3133		c.e22+1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTTCTCTTACCAACTTGGCA	0.493																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.e22+1		fibrillin 1							53.0	47.0	49.0					15																	48787319		2197	4296	6493	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48787319C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2677+1G>A	15.37:g.48787319C>T								NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	22	3133	-		all_lung(180;0.00279)						B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37		CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402486	0.83230	.	.	ENSG00000166147	ENST00000316623	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1346	0.72552	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46574611	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.616000	0.83018	2.492000	0.84095	0.555000	0.69702	.		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Intron	23	37	0	0	0	1	0	23	37				
DNM3	26052	broad.mit.edu	37	1	172376968	172376968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:172376968C>T	ENST00000355305.5	+	21	2754	c.2597C>T	c.(2596-2598)tCc>tTc	p.S866F	DNM3_ENST00000367731.1_Missense_Mutation_p.S856F|PIGC_ENST00000484368.1_Intron|DNM3_ENST00000358155.4_Missense_Mutation_p.S860F			Q9UQ16	DYN3_HUMAN	dynamin 3	866					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTAGAATCCTCCCTGTTAGAC	0.413																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2578-2580)tCc>tTc		dynamin 3							192.0	192.0	192.0					1																	172376968		1889	4115	6004	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172376968C>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2597C>T	1.37:g.172376968C>T	ENSP00000347457:p.Ser866Phe					DNM3_ENST00000367731.1_Missense_Mutation_p.S856F|DNM3_ENST00000355305.5_Missense_Mutation_p.S866F|PIGC_ENST00000484368.1_Intron	p.S860F	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			21	2755	+			866					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.2579C>T		.	.	.	.	.	.	.	.	.	.	C	18.28	3.589468	0.66105	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731	T;T;T	0.54479	0.57;0.57;0.57	5.69	5.69	0.88448	.	0.163809	0.40064	N	0.001195	T	0.58424	0.2121	L	0.39245	1.2	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.74348	0.983;0.983	T	0.61667	-0.7016	10	0.87932	D	0	.	16.5403	0.84383	0.0:1.0:0.0:0.0	.	856;860	Q9UQ16-2;Q9UQ16-3	.;.	F	870;860;866;856	ENSP00000350876:S860F;ENSP00000347457:S866F;ENSP00000356705:S856F	ENSP00000347457:S866F	S	+	2	0	DNM3	170643591	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.773000	0.62331	2.683000	0.91414	0.655000	0.94253	TCC		0.413	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		4	113	0	0	0	1	0	4	113				
FOXM1	2305	broad.mit.edu	37	12	2981407	2981407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:2981407C>T	ENST00000359843.3	-	3	577	c.509G>A	c.(508-510)gGt>gAt	p.G170D	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.G170D|FOXM1_ENST00000342628.2_Missense_Mutation_p.G170D	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	170					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGCTGCCTCACCATCTGCTAG	0.532																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(508-510)gGt>gAt		forkhead box M1							116.0	103.0	107.0					12																	2981407		2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2981407C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.509G>A	12.37:g.2981407C>T	ENSP00000352901:p.Gly170Asp					FOXM1_ENST00000359843.3_Missense_Mutation_p.G170D|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.G170D	p.G170D	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		3	622	-			170					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.509G>A	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779302	0.49891	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92911	-3.03;-3.13;-3.05	5.4	3.55	0.40652	.	0.536157	0.21712	N	0.070244	D	0.90157	0.6924	L	0.60455	1.87	0.09310	N	1	B;B;P;B;P	0.37061	0.301;0.44;0.576;0.44;0.58	B;B;B;B;B	0.39419	0.157;0.157;0.299;0.157;0.299	D	0.84606	0.0675	10	0.62326	D	0.03	.	11.7551	0.51870	0.0:0.8492:0.0:0.1508	.	169;170;170;170;170	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	D	170	ENSP00000342307:G170D;ENSP00000354492:G170D;ENSP00000352901:G170D	ENSP00000342307:G170D	G	-	2	0	FOXM1	2851668	0.007000	0.16637	0.022000	0.16811	0.835000	0.47333	2.014000	0.40951	1.407000	0.46875	0.655000	0.94253	GGT		0.532	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		5	153	0	0	0	1	0	5	153				
TCEAL8	90843	broad.mit.edu	37	X	102508842	102508842	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:102508842G>A	ENST00000372685.3	-	3	302	c.66C>T	c.(64-66)cgC>cgT	p.R22R	TCEAL8_ENST00000360000.4_Silent_p.R22R	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|lung(1)|ovary(1)	4						CCTCCAAAGGGCGATCTTCCT	0.448																																						ENST00000372685.3																			0				kidney(2)|lung(1)|ovary(1)	4						c.(64-66)cgC>cgT		transcription elongation factor A (SII)-like 8							187.0	166.0	173.0					X																	102508842		2203	4300	6503	SO:0001819	synonymous_variant	90843				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102508842G>A	AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.66C>T	X.37:g.102508842G>A						TCEAL8_ENST00000360000.4_Silent_p.R22R	p.R22R	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN			3	302	-			22						Silent	SNP	ENST00000372685.3	37	c.66C>T	CCDS14504.1																																																																																				0.448	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1	NM_153333		56	141	0	0	0	1	0	56	141				
NAA25	80018	broad.mit.edu	37	12	112530930	112530930	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:112530930G>A	ENST00000261745.4	-	2	317	c.69C>T	c.(67-69)gaC>gaT	p.D23D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	23						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TATTACCATTGTCAAGATAAT	0.294																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(67-69)gaC>gaT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							112.0	102.0	105.0					12																	112530930		2202	4300	6502	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112530930G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.69C>T	12.37:g.112530930G>A							p.D23D	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			2	317	-			23					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.69C>T	CCDS9159.1																																																																																				0.294	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		4	66	0	0	0	1	0	4	66				
AP4B1	10717	broad.mit.edu	37	1	114442802	114442802	+	Missense_Mutation	SNP	G	G	A	rs373681764		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114442802G>A	ENST00000369569.1	-	5	1118	c.838C>T	c.(838-840)Cct>Tct	p.P280S	AP4B1_ENST00000369567.1_Missense_Mutation_p.P112S|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.P280S|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369566.3_Missense_Mutation_p.P187S	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	280					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTAGCAAAGGTCCCTTGACC	0.483																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(838-840)Cct>Tct		adaptor-related protein complex 4, beta 1 subunit							73.0	80.0	78.0					1																	114442802		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442802G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.838C>T	1.37:g.114442802G>A	ENSP00000358582:p.Pro280Ser					AP4B1_ENST00000256658.4_Missense_Mutation_p.P280S|AP4B1_ENST00000369567.1_Missense_Mutation_p.P112S|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.P187S	p.P280S	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1118	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	280					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.838C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025953	0.75390	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;2.62;1.8;1.8	5.09	3.17	0.36434	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.998;0.999;0.993	T	0.63563	-0.6609	10	0.72032	D	0.01	.	14.2815	0.66216	0.0:0.0:0.7289:0.2711	.	187;112;280;181	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	S	112;280;280;187;205;112	ENSP00000358580:P112S;ENSP00000358582:P280S;ENSP00000256658:P280S;ENSP00000358579:P187S;ENSP00000358577:P205S;ENSP00000393622:P112S	ENSP00000256658:P280S	P	-	1	0	AP4B1	114244325	1.000000	0.71417	0.538000	0.28064	0.967000	0.64934	5.445000	0.66594	0.621000	0.30232	0.561000	0.74099	CCT		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		4	83	0	0	0	1	0	4	83				
DIP2C	22982	broad.mit.edu	37	10	459933	459933	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:459933C>T	ENST00000280886.6	-	8	1064	c.977G>A	c.(976-978)aGg>aAg	p.R326K	DIP2C_ENST00000381496.3_Missense_Mutation_p.R219K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	326						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGTGCCCCACCTCTGCAGTGC	0.657																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(976-978)aGg>aAg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							61.0	61.0	61.0					10																	459933		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:459933C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.977G>A	10.37:g.459933C>T	ENSP00000280886:p.Arg326Lys					DIP2C_ENST00000381496.3_Missense_Mutation_p.R219K	p.R326K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	8	1064	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	326					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.977G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510729	0.96386	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.45668	0.89;0.89	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.68952	2.095	0.49051	D	0.999744	P;B	0.45078	0.85;0.086	P;B	0.46208	0.507;0.115	T	0.52793	-0.8528	10	0.42905	T	0.14	-21.1614	18.7949	0.91990	0.0:1.0:0.0:0.0	.	219;326	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	K	326;219	ENSP00000280886:R326K;ENSP00000370907:R219K	ENSP00000280886:R326K	R	-	2	0	DIP2C	449933	1.000000	0.71417	0.990000	0.47175	0.953000	0.61014	7.776000	0.85560	2.427000	0.82271	0.655000	0.94253	AGG		0.657	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		8	71	0	0	0	1	0	8	71				
PIEZO2	63895	broad.mit.edu	37	18	10672790	10672790	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:10672790G>A	ENST00000503781.3	-	51	7902	c.7903C>T	c.(7903-7905)Ctg>Ttg	p.L2635L	PIEZO2_ENST00000580640.1_Silent_p.L2660L|PIEZO2_ENST00000302079.6_Silent_p.L2572L|PIEZO2_ENST00000538948.1_Silent_p.L592L|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Silent_p.L427L	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2635					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TTTCCAGTCAGGTTGAGAACC	0.428																																						ENST00000302079.6																			0											c.(7714-7716)Ctg>Ttg		piezo-type mechanosensitive ion channel component 2							130.0	120.0	124.0					18																	10672790		2203	4300	6503	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10672790G>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7903C>T	18.37:g.10672790G>A						PIEZO2_ENST00000580640.1_Silent_p.L2660L|PIEZO2_ENST00000538948.1_Silent_p.L592L|PIEZO2_ENST00000285141.4_Silent_p.L427L|PIEZO2_ENST00000503781.3_Silent_p.L2635L|PIEZO2_ENST00000581680.1_5'UTR	p.L2572L			Q9H5I5	PIEZ2_HUMAN			50	7713	-			2635					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.7714C>T																																																																																					0.428	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		26	72	0	0	0	1	0	26	72				
FBXL17	64839	broad.mit.edu	37	5	107521927	107521927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:107521927C>T	ENST00000542267.1	-	6	2042	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	FBXL17_ENST00000496714.1_Missense_Mutation_p.D148N|FBXL17_ENST00000359660.5_Missense_Mutation_p.D148N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	546										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TGACGTAGGTCCAAGCTGGAA	0.348																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1636-1638)Gac>Aac		F-box and leucine-rich repeat protein 17							86.0	82.0	84.0					5																	107521927		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107521927C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1636G>A	5.37:g.107521927C>T	ENSP00000437464:p.Asp546Asn					FBXL17_ENST00000359660.5_Missense_Mutation_p.D148N|FBXL17_ENST00000496714.1_Missense_Mutation_p.D148N	p.D546N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	6	2042	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	546					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1636G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274568	0.59649	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.17370	2.28;4.32;2.28	5.24	5.24	0.73138	.	0.179966	0.40469	N	0.001090	T	0.27027	0.0662	N	0.20807	0.61	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.06338	-1.0832	10	0.13470	T	0.59	.	19.1703	0.93575	0.0:1.0:0.0:0.0	.	546;148	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	N	148;546;148	ENSP00000352683:D148N;ENSP00000437464:D546N;ENSP00000418111:D148N	ENSP00000352683:D148N	D	-	1	0	FBXL17	107549826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.383000	0.79741	2.591000	0.87537	0.591000	0.81541	GAC		0.348	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	44	0	0	0	1	0	3	44				
RLIM	51132	broad.mit.edu	37	X	73812805	73812805	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:73812805C>T	ENST00000332687.6	-	4	563	c.345G>A	c.(343-345)ggG>ggA	p.G115G	RLIM_ENST00000349225.2_Silent_p.G115G	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	115					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCCTCTTTGCCCACTTCTTG	0.398																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(343-345)ggG>ggA		ring finger protein, LIM domain interacting							116.0	105.0	109.0					X																	73812805		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812805C>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.345G>A	X.37:g.73812805C>T						RLIM_ENST00000349225.2_Silent_p.G115G	p.G115G	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	563	-			115					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.345G>A	CCDS14427.1																																																																																				0.398	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		11	102	0	0	0	1	0	11	102				
EXOSC10	5394	broad.mit.edu	37	1	11151629	11151629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11151629C>T	ENST00000376936.4	-	4	447	c.398G>A	c.(397-399)gGt>gAt	p.G133D	EXOSC10_ENST00000304457.7_Missense_Mutation_p.G133D|EXOSC10_ENST00000544779.1_Missense_Mutation_p.G133D	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	133					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CTTGTTTACACCTGAGGCTTC	0.443																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(397-399)gGt>gAt		exosome component 10							81.0	81.0	81.0					1																	11151629		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11151629C>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.398G>A	1.37:g.11151629C>T	ENSP00000366135:p.Gly133Asp					EXOSC10_ENST00000376936.4_Missense_Mutation_p.G133D|EXOSC10_ENST00000304457.7_Missense_Mutation_p.G133D	p.G133D			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	4	403	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	133					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.398G>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327454	0.95733	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	6.03	6.03	0.97812	Exosome-associated factor Rrp6, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.85237	0.1036	9	0.87932	D	0	-24.6504	19.5478	0.95307	0.0:1.0:0.0:0.0	.	133;133	Q01780-2;Q01780	.;EXOSX_HUMAN	D	133	.	ENSP00000307307:G133D	G	-	2	0	EXOSC10	11074216	1.000000	0.71417	0.983000	0.44433	0.957000	0.61999	7.131000	0.77243	2.868000	0.98415	0.555000	0.69702	GGT		0.443	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		4	42	0	0	0	1	0	4	42				
CLDN19	149461	broad.mit.edu	37	1	43203982	43203982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43203982G>A	ENST00000296387.1	-	3	581	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	CLDN19_ENST00000539749.1_Intron|CLDN19_ENST00000372539.3_Missense_Mutation_p.L131F	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	131					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAAGTGCAGAGGCCTAAAGAC	0.617																																						ENST00000296387.1																			0				breast(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(391-393)Ctc>Ttc		claudin 19							81.0	81.0	81.0					1																	43203982		2203	4300	6503	SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43203982G>A	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.391C>T	1.37:g.43203982G>A	ENSP00000296387:p.Leu131Phe					CLDN19_ENST00000539749.1_Intron|CLDN19_ENST00000372539.3_Missense_Mutation_p.L131F	p.L131F	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN			3	581	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	131					B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.391C>T	CCDS471.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288858	0.80914	.	.	ENSG00000164007	ENST00000296387;ENST00000372539	D;D	0.94417	-3.42;-3.42	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.96543	0.8872	M	0.66297	2.02	0.80722	D	1	P;D	0.76494	0.903;0.999	P;D	0.78314	0.596;0.991	D	0.96658	0.9487	10	0.54805	T	0.06	.	15.5483	0.76126	0.0:0.0:1.0:0.0	.	131;131	Q8N6F1-2;Q8N6F1	.;CLD19_HUMAN	F	131	ENSP00000296387:L131F;ENSP00000361617:L131F	ENSP00000296387:L131F	L	-	1	0	CLDN19	42976569	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.189000	0.50965	2.266000	0.75297	0.313000	0.20887	CTC		0.617	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		26	37	0	0	0	1	0	26	37				
UBE2K	3093	broad.mit.edu	37	4	39739109	39739109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:39739109G>A	ENST00000261427.5	+	2	417	c.133G>A	c.(133-135)Gga>Aga	p.G45R	UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000445950.2_Missense_Mutation_p.G45R|UBE2K_ENST00000503368.1_Intron|UBE2K_ENST00000295963.6_Missense_Mutation_p.G45R	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	45					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						AGAAATAGCAGGACCTCCAGA	0.289																																					NSCLC(101;689 1592 16105 29682 31745)	ENST00000261427.5																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(133-135)Gga>Aga		ubiquitin-conjugating enzyme E2K							58.0	61.0	60.0					4																	39739109		2203	4294	6497	SO:0001583	missense	3093				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity	g.chr4:39739109G>A	U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.133G>A	4.37:g.39739109G>A	ENSP00000261427:p.Gly45Arg					UBE2K_ENST00000295963.6_Missense_Mutation_p.G45R|UBE2K_ENST00000445950.2_Missense_Mutation_p.G45R|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000503368.1_Intron	p.G45R	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN			2	417	+			45					A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Missense_Mutation	SNP	ENST00000261427.5	37	c.133G>A	CCDS33976.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976648	0.92982	.	.	ENSG00000078140	ENST00000261427;ENST00000295963;ENST00000510934;ENST00000445950	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.53	5.53	0.82687	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86192	0.1613	10	0.87932	D	0	-11.2767	19.8257	0.96617	0.0:0.0:1.0:0.0	.	45;45;45	B4DIZ2;P61086;C9JGP1	.;UBE2K_HUMAN;.	R	45	ENSP00000261427:G45R;ENSP00000295963:G45R;ENSP00000425301:G45R;ENSP00000390483:G45R	ENSP00000261427:G45R	G	+	1	0	UBE2K	39415504	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.384000	0.97219	2.749000	0.94314	0.650000	0.86243	GGA		0.289	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339		4	71	0	0	0	1	0	4	71				
OR5D13	390142	broad.mit.edu	37	11	55541459	55541459	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:55541459C>T	ENST00000361760.1	+	1	546	c.546C>T	c.(544-546)gaC>gaT	p.D182D		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTATCTGTGACCACTCTGTAA	0.393																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(544-546)gaC>gaT		olfactory receptor, family 5, subfamily D, member 13							119.0	115.0	117.0					11																	55541459		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541459C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.546C>T	11.37:g.55541459C>T							p.D182D	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	546	+		all_epithelial(135;0.196)	182					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.546C>T	CCDS31507.1																																																																																				0.393	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		33	85	0	0	0	1	0	33	85				
PPFIA4	8497	broad.mit.edu	37	1	203045502	203045502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:203045502C>T	ENST00000447715.2	+	35	3983	c.3542C>T	c.(3541-3543)tCc>tTc	p.S1181F	PPFIA4_ENST00000367240.2_Missense_Mutation_p.S1182F|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S697F|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S688F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S688F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S910F|PPFIA4_ENST00000594572.1_Intron			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	1181					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CACATGCTCTCCGCCTTCCGG	0.612																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3544-3546)tCc>tTc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							88.0	102.0	98.0					1																	203045502		2141	4245	6386	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203045502C>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.3542C>T	1.37:g.203045502C>T	ENSP00000402576:p.Ser1181Phe					PPFIA4_ENST00000599966.1_Missense_Mutation_p.S688F|PPFIA4_ENST00000594572.1_Intron|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S688F|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S1181F|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S697F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S910F	p.S1182F			O75335	LIPA4_HUMAN			29	4072	+			697					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.3545C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.230975	0.79688	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.26067	2.12;1.76;1.77;1.77;1.76	4.93	4.93	0.64822	.	0.478116	0.15303	U	0.269502	T	0.25232	0.0613	N	0.22421	0.69	0.38962	D	0.958577	P;P;P;P	0.44578	0.61;0.838;0.729;0.61	B;P;P;B	0.45232	0.372;0.466;0.474;0.282	T	0.13548	-1.0505	10	0.72032	D	0.01	12.6201	15.9244	0.79603	0.0:1.0:0.0:0.0	.	910;1181;688;697	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	F	1182;1181;688;910;697	ENSP00000356209:S1182F;ENSP00000402576:S1181F;ENSP00000295706:S688F;ENSP00000400379:S910F;ENSP00000272198:S697F	ENSP00000272198:S697F	S	+	2	0	PPFIA4	201312125	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.902000	0.56310	2.279000	0.76181	0.455000	0.32223	TCC		0.612	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		6	95	0	0	0	1	0	6	95				
CYP2C18	1562	broad.mit.edu	37	10	96495194	96495194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:96495194C>T	ENST00000285979.6	+	9	1665	c.1466C>T	c.(1465-1467)cCt>cTt	p.P489L	CYP2C18_ENST00000339022.5_Missense_Mutation_p.P430L|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	489					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TGCTTCATTCCTGTCTGAAGA	0.498																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(1465-1467)cCt>cTt		cytochrome P450, family 2, subfamily C, polypeptide 18							182.0	167.0	172.0					10																	96495194		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96495194C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1466C>T	10.37:g.96495194C>T	ENSP00000285979:p.Pro489Leu					CYP2C18_ENST00000339022.5_Missense_Mutation_p.P430L|CYP2C19_ENST00000464755.1_Intron	p.P489L	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	9	1665	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.1466C>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	23.7	4.441775	0.83993	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.77750	-1.12;-0.85	4.05	4.05	0.47172	.	0.000000	0.85682	U	0.000000	D	0.87974	0.6313	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.89917	0.4056	10	0.87932	D	0	.	13.8174	0.63301	0.0:1.0:0.0:0.0	.	430;489	Q4VAT5;P33260	.;CP2CI_HUMAN	L	430;489	ENSP00000341293:P430L;ENSP00000285979:P489L	ENSP00000285979:P489L	P	+	2	0	CYP2C18	96485184	0.851000	0.29673	0.500000	0.27589	0.275000	0.26752	4.845000	0.62853	2.074000	0.62210	0.449000	0.29647	CCT		0.498	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		17	82	0	0	0	1	0	17	82				
TMEM180	79847	broad.mit.edu	37	10	104233389	104233389	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104233389G>A	ENST00000238936.4	+	8	1225	c.988G>A	c.(988-990)Ggc>Agc	p.G330S	TMEM180_ENST00000366277.2_Missense_Mutation_p.G59S	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	330						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCGGCGCTGGGGCGTCTACGC	0.642																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(988-990)Ggc>Agc		transmembrane protein 180							128.0	129.0	129.0					10																	104233389		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104233389G>A	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.988G>A	10.37:g.104233389G>A	ENSP00000238936:p.Gly330Ser					TMEM180_ENST00000366277.2_Missense_Mutation_p.G59S	p.G330S	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	1225	+		Colorectal(252;0.122)	330					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.988G>A	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027586	0.93518	.	.	ENSG00000138111	ENST00000366277;ENST00000447593;ENST00000238936;ENST00000369930	D;D;D	0.86366	-2.11;-2.11;-2.11	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.046101	0.85682	D	0.000000	D	0.94493	0.8227	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94178	0.7429	10	0.48119	T	0.1	.	19.3858	0.94555	0.0:0.0:1.0:0.0	.	179;330	B4DWN6;Q14CX5	.;TM180_HUMAN	S	59;179;330;59	ENSP00000437572:G59S;ENSP00000238936:G330S;ENSP00000358946:G59S	ENSP00000238936:G330S	G	+	1	0	TMEM180	104223379	1.000000	0.71417	0.994000	0.49952	0.464000	0.32679	9.869000	0.99810	2.590000	0.87494	0.462000	0.41574	GGC		0.642	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		37	84	0	0	0	1	0	37	84				
NXT1	29107	broad.mit.edu	37	20	23334701	23334701	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:23334701C>T	ENST00000254998.2	+	2	410	c.23C>T	c.(22-24)aCc>aTc	p.T8I	RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	8					protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GATTTCAAGACCTATGTGGAT	0.552																																						ENST00000254998.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(22-24)aCc>aTc		NTF2-like export factor 1							91.0	91.0	91.0					20																	23334701		2203	4300	6503	SO:0001583	missense	29107					cytoplasm|nuclear pore		g.chr20:23334701C>T	AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.23C>T	20.37:g.23334701C>T	ENSP00000254998:p.Thr8Ile						p.T8I	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN			2	410	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		8						Missense_Mutation	SNP	ENST00000254998.2	37	c.23C>T	CCDS13150.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683553	0.47991	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.32	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	M	0.68317	2.08	0.58432	D	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.56312	-0.8000	9	0.45353	T	0.12	.	9.2482	0.37539	0.0:0.9058:0.0:0.0942	.	8	Q9UKK6	NXT1_HUMAN	I	8	.	ENSP00000254998:T8I	T	+	2	0	NXT1	23282701	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.021000	0.64072	2.941000	0.99782	0.655000	0.94253	ACC		0.552	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	NM_013248		4	82	0	0	0	1	0	4	82				
MPRIP	23164	broad.mit.edu	37	17	17062131	17062131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:17062131G>A	ENST00000341712.4	+	14	1861	c.1861G>A	c.(1861-1863)Ggg>Agg	p.G621R	MPRIP_ENST00000444976.1_Missense_Mutation_p.G583R|MPRIP_ENST00000395811.5_Missense_Mutation_p.G621R|MPRIP_ENST00000395804.3_Missense_Mutation_p.G621R			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	621	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCGGAGCCCAGGGCTGCCTAT	0.647																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1861-1863)Ggg>Agg		myosin phosphatase Rho interacting protein							42.0	46.0	45.0					17																	17062131		2199	4292	6491	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17062131G>A	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1861G>A	17.37:g.17062131G>A	ENSP00000342379:p.Gly621Arg					MPRIP_ENST00000341712.4_Missense_Mutation_p.G621R|MPRIP_ENST00000395804.3_Missense_Mutation_p.G621R|MPRIP_ENST00000444976.1_Missense_Mutation_p.G583R	p.G621R	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			14	1950	+			621			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.1861G>A	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348489	0.61183	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.23147	1.92;2.24;2.25;2.25	5.22	5.22	0.72569	.	.	.	.	.	T	0.43322	0.1242	L	0.58810	1.83	0.24866	N	0.992311	D;B	0.55385	0.971;0.393	P;B	0.57846	0.828;0.04	T	0.24764	-1.0151	9	0.39692	T	0.17	.	15.6913	0.77457	0.0:0.0:1.0:0.0	.	621;621	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	R	583;621;621;621	ENSP00000400189:G583R;ENSP00000379156:G621R;ENSP00000379149:G621R;ENSP00000342379:G621R	ENSP00000342379:G621R	G	+	1	0	MPRIP	17002856	0.996000	0.38824	0.956000	0.39512	0.364000	0.29643	2.759000	0.47573	2.438000	0.82558	0.462000	0.41574	GGG		0.647	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		11	66	0	0	0	1	0	11	66				
KCNJ5	3762	broad.mit.edu	37	11	128781381	128781381	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:128781381C>T	ENST00000338350.4	+	3	565	c.213C>T	c.(211-213)taC>taT	p.Y71Y	KCNJ5_ENST00000533599.1_Silent_p.Y71Y|KCNJ5_ENST00000529694.1_Silent_p.Y71Y			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	71					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AGGAGACCTACCGGTACCTGA	0.592																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(211-213)taC>taT		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						137.0	112.0	121.0					11																	128781381		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781381C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.213C>T	11.37:g.128781381C>T						KCNJ5_ENST00000338350.4_Silent_p.Y71Y|KCNJ5_ENST00000533599.1_Silent_p.Y71Y	p.Y71Y	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	589	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	71					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.213C>T	CCDS8479.1																																																																																				0.592	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		31	65	0	0	0	1	0	31	65				
CNTN3	5067	broad.mit.edu	37	3	74411090	74411090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:74411090C>T	ENST00000263665.6	-	10	1342	c.1315G>A	c.(1315-1317)Gca>Aca	p.A439T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	439	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAAGAGAGTGCCCTTGGGGAG	0.478																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1315-1317)Gca>Aca		contactin 3 (plasmacytoma associated)							78.0	79.0	78.0					3																	74411090		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411090C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1315G>A	3.37:g.74411090C>T	ENSP00000263665:p.Ala439Thr						p.A439T	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1342	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	439			Ig-like C2-type 5.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1315G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775894	0.49786	.	.	ENSG00000113805	ENST00000263665	T	0.66995	-0.24	5.41	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.056895	0.64402	D	0.000001	T	0.64627	0.2615	L	0.39566	1.225	0.25708	N	0.985514	B	0.27229	0.172	B	0.37943	0.261	T	0.62661	-0.6807	10	0.87932	D	0	.	15.1722	0.72884	0.0:0.5952:0.4048:0.0	.	439	Q9P232	CNTN3_HUMAN	T	439	ENSP00000263665:A439T	ENSP00000263665:A439T	A	-	1	0	CNTN3	74493780	0.989000	0.36119	0.013000	0.15412	0.006000	0.05464	3.443000	0.52907	0.703000	0.31848	0.591000	0.81541	GCA		0.478	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		5	81	0	0	0	1	0	5	81				
SERPINF2	5345	broad.mit.edu	37	17	1657567	1657567	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1657567C>T	ENST00000324015.3	+	10	1292	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	SERPINF2_ENST00000450523.2_Silent_p.S341S|SERPINF2_ENST00000382061.4_Silent_p.S405S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	405		Reactive bond for chymotrypsin.			acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	CCCGCATGTCCCTGTCCTCCT	0.657																																						ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1213-1215)tcC>tcT		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						147.0	121.0	130.0					17																	1657567		2203	4300	6503	SO:0001819	synonymous_variant	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1657567C>T	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1215C>T	17.37:g.1657567C>T						SERPINF2_ENST00000382061.4_Silent_p.S405S|SERPINF2_ENST00000450523.2_Silent_p.S341S	p.S405S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1292	+			405				Reactive bond for chymotrypsin.	B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Silent	SNP	ENST00000324015.3	37	c.1215C>T	CCDS11011.1																																																																																				0.657	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		55	86	0	0	0	1	0	55	86				
C14orf159	80017	broad.mit.edu	37	14	91636358	91636358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:91636358C>T	ENST00000523771.1	+	5	872	c.269C>T	c.(268-270)cCc>cTc	p.P90L	C14orf159_ENST00000521077.2_Missense_Mutation_p.P90L|C14orf159_ENST00000428926.2_Missense_Mutation_p.P90L|C14orf159_ENST00000522322.1_Missense_Mutation_p.P90L|C14orf159_ENST00000523816.1_Missense_Mutation_p.P90L|C14orf159_ENST00000256324.10_Missense_Mutation_p.P90L|C14orf159_ENST00000518868.1_Missense_Mutation_p.P90L|C14orf159_ENST00000520328.1_Missense_Mutation_p.P90L|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000412671.2_Missense_Mutation_p.P90L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	90						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		ATGGGCCATCCCCAGTTCTGG	0.582																																						ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(268-270)cCc>cTc		chromosome 14 open reading frame 159							76.0	83.0	81.0					14																	91636358		2203	4300	6503	SO:0001583	missense	80017					mitochondrion		g.chr14:91636358C>T	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.269C>T	14.37:g.91636358C>T	ENSP00000429655:p.Pro90Leu					C14orf159_ENST00000412671.2_Missense_Mutation_p.P90L|C14orf159_ENST00000522322.1_Missense_Mutation_p.P90L|C14orf159_ENST00000256324.10_Missense_Mutation_p.P90L|C14orf159_ENST00000523771.1_Missense_Mutation_p.P90L|C14orf159_ENST00000521077.2_Missense_Mutation_p.P90L|C14orf159_ENST00000520328.1_Missense_Mutation_p.P90L|C14orf159_ENST00000428926.2_Missense_Mutation_p.P90L|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000523816.1_Missense_Mutation_p.P90L	p.P90L			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	8	959	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	90					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	c.269C>T	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	C	6.448	0.450720	0.12223	.	.	ENSG00000133943	ENST00000521334;ENST00000518871;ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000428926;ENST00000523894;ENST00000522322;ENST00000523771;ENST00000521064;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.0	4.09	0.47781	.	0.271197	0.37219	N	0.002192	T	0.40979	0.1139	L	0.52759	1.655	0.45662	D	0.998581	B;B;B;B;B	0.24882	0.02;0.113;0.033;0.033;0.033	B;B;B;B;B	0.23419	0.018;0.046;0.04;0.04;0.04	T	0.32929	-0.9888	10	0.39692	T	0.17	.	11.4696	0.50261	0.0:0.908:0.0:0.092	.	90;90;90;90;90	Q7Z3D6;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.	L	90	ENSP00000430022:P90L;ENSP00000429189:P90L;ENSP00000429453:P90L;ENSP00000256324:P90L;ENSP00000430666:P90L;ENSP00000428296:P90L;ENSP00000430137:P90L;ENSP00000428263:P90L;ENSP00000428974:P90L;ENSP00000428652:P90L;ENSP00000404343:P90L;ENSP00000429459:P90L;ENSP00000427953:P90L;ENSP00000429655:P90L;ENSP00000429392:P90L;ENSP00000404196:P90L	ENSP00000256324:P90L	P	+	2	0	C14orf159	90706111	0.035000	0.19736	0.256000	0.24389	0.027000	0.11550	0.793000	0.26944	2.488000	0.83962	0.561000	0.74099	CCC		0.582	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		13	53	0	0	0	1	0	13	53				
EXOSC10	5394	broad.mit.edu	37	1	11150715	11150715	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11150715C>T	ENST00000376936.4	-	6	703	c.654G>A	c.(652-654)aaG>aaA	p.K218K	EXOSC10_ENST00000304457.7_Silent_p.K218K|EXOSC10_ENST00000544779.1_Silent_p.K218K	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	218					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCCGCCTTTCCTTAGAGAGAG	0.502																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(652-654)aaG>aaA		exosome component 10							45.0	40.0	42.0					1																	11150715		2203	4300	6503	SO:0001819	synonymous_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11150715C>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.654G>A	1.37:g.11150715C>T						EXOSC10_ENST00000376936.4_Silent_p.K218K|EXOSC10_ENST00000304457.7_Silent_p.K218K	p.K218K			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	6	659	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	218					B1AKQ0|B1AKQ1|Q15158	Silent	SNP	ENST00000376936.4	37	c.654G>A	CCDS30584.1																																																																																				0.502	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		7	21	0	0	0	1	0	7	21				
PBXIP1	57326	broad.mit.edu	37	1	154920121	154920121	+	Silent	SNP	C	C	T	rs143585143	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:154920121C>T	ENST00000368463.3	-	8	806	c.735G>A	c.(733-735)agG>agA	p.R245R	PBXIP1_ENST00000539880.1_Silent_p.R72R|PBXIP1_ENST00000368465.1_Silent_p.R216R|PBXIP1_ENST00000542459.1_Silent_p.R90R|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368460.3_Silent_p.R214R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	245					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACATACCTGCCTGTCCCCCA	0.622													-|||	2	0.000399361	0.0015	0.0	5008	,	,		17318	0.0		0.0	False		,,,				2504	0.0					ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(733-735)agG>agA		pre-B-cell leukemia homeobox interacting protein 1				1,4405	2.1+/-5.4	0,1,2202	70.0	78.0	75.0		735	2.4	0.7	1	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	PBXIP1	NM_020524.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/732	154920121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154920121C>T	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.735G>A	1.37:g.154920121C>T						PBXIP1_ENST00000368460.3_Silent_p.R214R|PBXIP1_ENST00000368465.1_Silent_p.R216R|PBXIP1_ENST00000542459.1_Silent_p.R90R|PBXIP1_ENST00000539880.1_Silent_p.R72R|PBXIP1_ENST00000498553.1_5'UTR	p.R245R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		8	806	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		245					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	ENST00000368463.3	37	c.735G>A	CCDS1074.1																																																																																				0.622	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		23	57	0	0	0	1	0	23	57				
VSIG8	391123	broad.mit.edu	37	1	159827596	159827596	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:159827596G>A	ENST00000368100.1	-	4	726	c.591C>T	c.(589-591)tcC>tcT	p.S197S	C1orf204_ENST00000491974.1_5'Flank|C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	197	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					AGCTGTGCTGGGAGGTGTAAG	0.597																																						ENST00000368100.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(589-591)tcC>tcT		V-set and immunoglobulin domain containing 8							68.0	70.0	69.0					1																	159827596		2203	4300	6503	SO:0001819	synonymous_variant	391123					integral to membrane		g.chr1:159827596G>A		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.591C>T	1.37:g.159827596G>A							p.S197S	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN			4	726	-	all_hematologic(112;0.0597)		197			Ig-like V-type 2.		Q5VU14	Silent	SNP	ENST00000368100.1	37	c.591C>T	CCDS30913.1																																																																																				0.597	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		12	28	0	0	0	1	0	12	28				
ZFHX3	463	broad.mit.edu	37	16	72827946	72827946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:72827946C>T	ENST00000268489.5	-	9	9307	c.8635G>A	c.(8635-8637)Gcc>Acc	p.A2879T	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1965T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2879					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)			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)				GCCATCATGGCCGCTTTGGTC	0.502																																						ENST00000268489.5																			0				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						c.(8635-8637)Gcc>Acc		zinc finger homeobox 3							160.0	140.0	146.0					16																	72827946		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72827946C>T	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.8635G>A	16.37:g.72827946C>T	ENSP00000268489:p.Ala2879Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1965T	p.A2879T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9307	-		Ovarian(137;0.13)	2879					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8635G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873214	0.33069	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73789	-0.78;-0.77	6.07	6.07	0.98685	.	0.000000	0.49916	D	0.000135	T	0.63931	0.2553	N	0.19112	0.55	0.41939	D	0.990609	P	0.38922	0.651	B	0.35859	0.212	T	0.63449	-0.6635	10	0.35671	T	0.21	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	2879	Q15911	ZFHX3_HUMAN	T	2879;1965	ENSP00000268489:A2879T;ENSP00000438926:A1965T	ENSP00000268489:A2879T	A	-	1	0	ZFHX3	71385447	1.000000	0.71417	0.985000	0.45067	0.928000	0.56348	4.520000	0.60524	2.884000	0.98904	0.655000	0.94253	GCC		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		33	65	0	0	0	1	0	33	65				
PHACTR2	9749	broad.mit.edu	37	6	144074950	144074950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:144074950G>A	ENST00000427704.2	+	4	452	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	PHACTR2_ENST00000397980.3_Missense_Mutation_p.E119K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E176K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E119K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E119K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E108K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	108							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CATCGGAGAGGAATCTACCCG	0.418																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(322-324)Gaa>Aaa		phosphatase and actin regulator 2							93.0	85.0	87.0					6																	144074950		1822	4087	5909	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144074950G>A	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.322G>A	6.37:g.144074950G>A	ENSP00000391763:p.Glu108Lys					PHACTR2_ENST00000305766.6_Missense_Mutation_p.E108K|PHACTR2_ENST00000397980.3_Missense_Mutation_p.E119K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E119K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E176K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E119K	p.E108K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	4	452	+			108					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.322G>A	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124377	0.94429	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000542769;ENST00000397980	T;T;T;T;T;T	0.48836	1.44;1.9;1.46;1.9;1.46;0.8	6.16	6.16	0.99307	.	0.061993	0.64402	D	0.000006	T	0.58308	0.2113	M	0.63843	1.955	0.45704	D	0.998611	D;D;D;D	0.71674	0.998;0.998;0.998;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.985	T	0.43327	-0.9398	10	0.19590	T	0.45	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	119;108;119;108	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	K	176;108;108;119;119;63;119	ENSP00000356556:E176K;ENSP00000391763:E108K;ENSP00000305530:E108K;ENSP00000417038:E119K;ENSP00000356554:E119K;ENSP00000442153:E63K	ENSP00000305530:E108K	E	+	1	0	PHACTR2	144116643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.299000	0.72770	2.937000	0.99478	0.650000	0.86243	GAA		0.418	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		18	34	0	0	0	1	0	18	34				
RTN4RL2	349667	broad.mit.edu	37	11	57235278	57235278	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:57235278G>A	ENST00000533205.1	+	2	237	c.228G>A	c.(226-228)cgG>cgA	p.R76R	RTN4RL2_ENST00000395120.2_Silent_p.R76R|RTN4RL2_ENST00000335099.3_Silent_p.R76R					reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCACGCTGCGGCCAGGCACCT	0.622																																						ENST00000335099.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(226-228)cgG>cgA		reticulon 4 receptor-like 2							187.0	161.0	170.0					11																	57235278		2201	4296	6497	SO:0001819	synonymous_variant	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57235278G>A	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.228G>A	11.37:g.57235278G>A						RTN4RL2_ENST00000533205.1_Silent_p.R76R|RTN4RL2_ENST00000395120.2_Silent_p.R76R	p.R76R	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN			2	545	+			76						Silent	SNP	ENST00000533205.1	37	c.228G>A																																																																																					0.622	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570		39	64	0	0	0	1	0	39	64				
RPF1	80135	broad.mit.edu	37	1	84961597	84961597	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:84961597T>C	ENST00000370654.5	+	7	747	c.732T>C	c.(730-732)ccT>ccC	p.P244P	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	244	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AACACATACCTGAAATAATTC	0.378																																						ENST00000370654.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(730-732)ccT>ccC		ribosome production factor 1 homolog (S. cerevisiae)							82.0	78.0	79.0					1																	84961597		2203	4300	6503	SO:0001819	synonymous_variant	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84961597T>C	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.732T>C	1.37:g.84961597T>C							p.P244P	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN			7	747	+			244			Brix.		Q5VSK7|Q6AHX1|Q8WXZ8	Silent	SNP	ENST00000370654.5	37	c.732T>C	CCDS695.1																																																																																				0.378	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		23	42	0	0	0	1	0	23	42				
SPTBN5	51332	broad.mit.edu	37	15	42170607	42170607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42170607C>T	ENST00000320955.6	-	17	3630	c.3403G>A	c.(3403-3405)Gcc>Acc	p.A1135T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1135					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)			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)		TGAGCCGAGGCCACATCCACT	0.627																																						ENST00000320955.6																			0				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						c.(3403-3405)Gcc>Acc		spectrin, beta, non-erythrocytic 5							32.0	37.0	36.0					15																	42170607		2144	4250	6394	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42170607C>T	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.3403G>A	15.37:g.42170607C>T	ENSP00000317790:p.Ala1135Thr						p.A1135T	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		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)	17	3630	-		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)	1135						Missense_Mutation	SNP	ENST00000320955.6	37	c.3403G>A		.	.	.	.	.	.	.	.	.	.	.	15.49	2.849433	0.51270	.	.	ENSG00000137877	ENST00000320955	T	0.49432	0.78	4.25	3.31	0.37934	.	0.169503	0.39341	N	0.001384	T	0.46132	0.1377	M	0.72894	2.215	0.21675	N	0.999594	P	0.42785	0.79	B	0.40228	0.323	T	0.47005	-0.9150	10	0.41790	T	0.15	.	11.8249	0.52261	0.0:0.9052:0.0:0.0948	.	1135	Q9NRC6	SPTN5_HUMAN	T	1135	ENSP00000317790:A1135T	ENSP00000317790:A1135T	A	-	1	0	SPTBN5	39957899	0.995000	0.38212	0.905000	0.35620	0.671000	0.39405	1.397000	0.34543	2.075000	0.62263	0.462000	0.41574	GCC		0.627	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		10	23	0	0	0	1	0	10	23				
IGLV6-57	28778	broad.mit.edu	37	22	22550555	22550555	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22550555G>A	ENST00000390285.3	+	0	318									immunoglobulin lambda variable 6-57																		ACCCTCTGGGGTCCCTGATCG	0.572																																						ENST00000390285.2																			0																				57.0	61.0	60.0					22																	22550555		1975	4156	6131			0							g.chr22:22550555G>A	Z73673		22q11.2	2012-02-08			ENSG00000211640	ENSG00000211640		"""Immunoglobulins / IGL locus"""	5927	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150996		22.37:g.22550555G>A														0	318	+									RNA	SNP	ENST00000390285.3	37																																																																																						0.572	IGLV6-57-001	KNOWN	mRNA_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320861.3	NG_000002		11	30	0	0	0	1	0	11	30				
FCGR2B	2213	broad.mit.edu	37	1	161641266	161641266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161641266G>A	ENST00000358671.5	+	3	299	c.218G>A	c.(217-219)gGg>gAg	p.G73E	FCGR2B_ENST00000367960.5_Missense_Mutation_p.G66E|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000403078.3_Missense_Mutation_p.G73E|FCGR2B_ENST00000367962.4_Missense_Mutation_p.G73E|FCGR2B_ENST00000236937.9_Missense_Mutation_p.G73E|FCGR2B_ENST00000428605.2_Missense_Mutation_p.G73E|FCGR2B_ENST00000367961.4_Missense_Mutation_p.G66E	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	73	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACATGCCGGGGGACTCACAGC	0.577			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0											c.(217-219)gGg>gAg		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						114.0	114.0	114.0					1																	161641266		2203	4300	6503	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641266G>A	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.218G>A	1.37:g.161641266G>A	ENSP00000351497:p.Gly73Glu					FCGR2B_ENST00000367960.5_Missense_Mutation_p.G66E|FCGR2B_ENST00000236937.9_Missense_Mutation_p.G73E|FCGR2B_ENST00000367961.4_Missense_Mutation_p.G66E|FCGR2B_ENST00000358671.5_Missense_Mutation_p.G73E|FCGR2B_ENST00000428605.2_Missense_Mutation_p.G73E|FCGR2B_ENST00000403078.3_Missense_Mutation_p.G73E	p.G73E			P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	345	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		73			Ig-like C2-type 1.		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.218G>A	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395658	0.62177	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.53	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000087	T	0.26846	0.0657	M	0.79805	2.47	0.21220	N	0.999757	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;0.999;1.0;1.0;1.0;0.998	T	0.05273	-1.0895	10	0.87932	D	0	.	12.7583	0.57347	0.0:0.0:1.0:0.0	.	66;73;73;73;73;73	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	E	73;66;73;73;73;66;73;72	ENSP00000356939:G73E;ENSP00000356937:G66E;ENSP00000386038:G73E;ENSP00000404329:G73E;ENSP00000236937:G73E;ENSP00000356938:G66E;ENSP00000351497:G73E	ENSP00000236937:G73E	G	+	2	0	FCGR2B	159907890	0.988000	0.35896	0.112000	0.21494	0.005000	0.04900	4.740000	0.62087	2.059000	0.61396	0.462000	0.41574	GGG		0.577	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		20	35	0	0	0	1	0	20	35				
CATSPER1	117144	broad.mit.edu	37	11	65793506	65793506	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65793506G>A	ENST00000312106.5	-	1	482	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	115	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCTCATCATGGTAGTCCTCAC	0.607																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(343-345)taC>taT		cation channel, sperm associated 1							109.0	98.0	102.0					11																	65793506		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793506G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.345C>T	11.37:g.65793506G>A							p.Y115Y	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	482	-			115			His-rich.		Q96P76	Silent	SNP	ENST00000312106.5	37	c.345C>T	CCDS8127.1																																																																																				0.607	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		25	79	0	0	0	1	0	25	79				
CPD	1362	broad.mit.edu	37	17	28749894	28749894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:28749894C>T	ENST00000225719.4	+	5	1586	c.1510C>T	c.(1510-1512)Cac>Tac	p.H504Y	CPD_ENST00000543464.2_Missense_Mutation_p.H257Y	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	504	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTTCACCACCACCATTTCCC	0.423																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(1510-1512)Cac>Tac		carboxypeptidase D							171.0	166.0	168.0					17																	28749894		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28749894C>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1510C>T	17.37:g.28749894C>T	ENSP00000225719:p.His504Tyr					CPD_ENST00000543464.2_Missense_Mutation_p.H257Y	p.H504Y	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			5	1586	+			504			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1510C>T	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906924	0.92107	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.03524	3.9;3.9	5.77	5.77	0.91146	Peptidase M14, carboxypeptidase A (1);	0.088198	0.85682	D	0.000000	T	0.12135	0.0295	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	T	0.02275	-1.1184	10	0.66056	D	0.02	.	18.9713	0.92716	0.0:1.0:0.0:0.0	.	257;504	F5GZH6;O75976	.;CBPD_HUMAN	Y	504;257	ENSP00000225719:H504Y;ENSP00000444443:H257Y	ENSP00000225719:H504Y	H	+	1	0	CPD	25774020	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.111000	0.77077	2.728000	0.93425	0.650000	0.86243	CAC		0.423	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		30	122	0	0	0	1	0	30	122				
GOT2	2806	broad.mit.edu	37	16	58743471	58743471	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:58743471C>T	ENST00000245206.5	-	9	1148	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	GOT2_ENST00000434819.2_Splice_Site_p.W297*	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	340					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)			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)	CTTCTTGCAGCCTGTAAAGAA	0.507																																						ENST00000245206.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.e9-1		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						257.0	252.0	254.0					16																	58743471		2198	4300	6498	SO:0001630	splice_region_variant	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58743471C>T		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.1020-1G>A	16.37:g.58743471C>T						GOT2_ENST00000434819.2_Splice_Site_p.W297_splice	p.W340_splice	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			9	1148	-			340					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Splice_Site	SNP	ENST00000245206.5	37	c.1019_splice	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	36	5.662984	0.96745	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9812	0.89141	0.0:1.0:0.0:0.0	.	.	.	.	X	340;297	.	.	W	-	3	0	GOT2	57300972	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	7.717000	0.84732	2.477000	0.83638	0.644000	0.83932	TGG		0.507	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3		Nonsense_Mutation	14	281	0	0	0	1	0	14	281				
C7orf25	79020	broad.mit.edu	37	7	42949837	42949837	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:42949837C>T	ENST00000350427.4	-	2	938	c.663G>A	c.(661-663)caG>caA	p.Q221Q	C7orf25_ENST00000431882.2_Silent_p.Q279Q|C7orf25_ENST00000447342.1_Silent_p.Q221Q|C7orf25_ENST00000438029.1_Silent_p.Q221Q|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	221										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTCTGGTCACCTGCAAAAGTT	0.433																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(661-663)caG>caA		chromosome 7 open reading frame 25							71.0	72.0	72.0					7																	42949837		2203	4300	6503	SO:0001819	synonymous_variant	79020							g.chr7:42949837C>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.663G>A	7.37:g.42949837C>T						C7orf25_ENST00000438029.1_Silent_p.Q221Q|C7orf25_ENST00000431882.2_Silent_p.Q279Q|C7orf25_ENST00000447342.1_Silent_p.Q221Q|PSMA2_ENST00000442788.1_3'UTR	p.Q221Q			Q9BPX7	CG025_HUMAN			2	938	-			221					A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	37	c.663G>A	CCDS5466.1																																																																																				0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		40	112	0	0	0	1	0	40	112				
GLI2	2736	broad.mit.edu	37	2	121746917	121746917	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:121746917C>T	ENST00000452319.1	+	14	3487	c.3427C>T	c.(3427-3429)Cct>Tct	p.P1143S	GLI2_ENST00000314490.11_Missense_Mutation_p.P815S|GLI2_ENST00000361492.4_Missense_Mutation_p.P1143S					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAATAACATGCCTGTGCAGTG	0.632																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3427-3429)Cct>Tct		GLI family zinc finger 2							28.0	27.0	28.0					2																	121746917		2191	4270	6461	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746917C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3427C>T	2.37:g.121746917C>T	ENSP00000390436:p.Pro1143Ser					GLI2_ENST00000361492.4_Missense_Mutation_p.P1143S|GLI2_ENST00000314490.11_Missense_Mutation_p.P815S	p.P1143S			P10070	GLI2_HUMAN			14	3487	+	Renal(3;0.0496)	Prostate(154;0.0623)	1143						Missense_Mutation	SNP	ENST00000452319.1	37	c.3427C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429218	0.83776	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.22945	1.93;1.93;2.08	4.87	4.87	0.63330	.	0.108087	0.64402	D	0.000004	T	0.53334	0.1790	M	0.75777	2.31	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.58188	-0.7680	10	0.87932	D	0	.	18.2578	0.90025	0.0:1.0:0.0:0.0	.	1143;798;798;815	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	S	1143;1143;815	ENSP00000390436:P1143S;ENSP00000354586:P1143S;ENSP00000312694:P815S	ENSP00000312694:P815S	P	+	1	0	GLI2	121463387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.550000	0.82173	2.542000	0.85734	0.449000	0.29647	CCT		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		13	25	0	0	0	1	0	13	25				
INSRR	3645	broad.mit.edu	37	1	156819108	156819108	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156819108C>T	ENST00000368195.3	-	6	1770	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	458					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCCTGTCACCTCCTCCAGTC	0.647																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1372-1374)gaG>gaA		insulin receptor-related receptor							112.0	113.0	112.0					1																	156819108		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156819108C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1374G>A	1.37:g.156819108C>T						NTRK1_ENST00000392302.2_Intron	p.E458E	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			6	1770	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		458					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1374G>A	CCDS1160.1																																																																																				0.647	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		17	69	0	0	0	1	0	17	69				
KIFC3	3801	broad.mit.edu	37	16	57803513	57803513	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:57803513C>T	ENST00000379655.4	-	9	1469	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	KIFC3_ENST00000465878.2_Silent_p.K265K|KIFC3_ENST00000540079.2_Silent_p.K302K|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000445690.2_Silent_p.K404K|KIFC3_ENST00000562903.1_Silent_p.K265K|KIFC3_ENST00000539578.1_Silent_p.K346K|KIFC3_ENST00000543930.1_Silent_p.K265K|KIFC3_ENST00000421376.2_Silent_p.K265K|KIFC3_ENST00000541240.1_Silent_p.K426K	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	404					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCACCTCGGCCTTGACACTCC	0.657																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1210-1212)aaG>aaA		kinesin family member C3							38.0	41.0	40.0					16																	57803513		2198	4300	6498	SO:0001819	synonymous_variant	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57803513C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1212G>A	16.37:g.57803513C>T						KIFC3_ENST00000541240.1_Silent_p.K426K|KIFC3_ENST00000562903.1_Silent_p.K265K|KIFC3_ENST00000421376.2_Silent_p.K265K|KIFC3_ENST00000465878.2_Silent_p.K265K|KIFC3_ENST00000445690.2_Silent_p.K404K|KIFC3_ENST00000540079.2_Silent_p.K302K|KIFC3_ENST00000539578.1_Silent_p.K346K|KIFC3_ENST00000543930.1_Silent_p.K265K	p.K404K	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			9	1469	-		all_neural(199;0.224)	404					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.1212G>A	CCDS10789.2																																																																																				0.657	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		13	18	0	0	0	1	0	13	18				
SYNJ2	8871	broad.mit.edu	37	6	158516650	158516650	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158516650C>T	ENST00000355585.4	+	27	3820	c.3745C>T	c.(3745-3747)Ccc>Tcc	p.P1249S	SYNJ2_ENST00000367112.1_Splice_Site_p.P334S|SYNJ2_ENST00000367122.2_Splice_Site_p.P1204S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1249	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTTTCTCAGCCCCTGTCACC	0.527																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e27-1		synaptojanin 2							73.0	76.0	75.0					6																	158516650		2203	4300	6503	SO:0001630	splice_region_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516650C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3745-1C>T	6.37:g.158516650C>T						SYNJ2_ENST00000367122.2_Splice_Site_p.P1204_splice|SYNJ2_ENST00000367112.1_Splice_Site_p.P334_splice	p.P1249_splice	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	3820	+			1249			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Splice_Site	SNP	ENST00000355585.4	37	c.3744_splice	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592814	0.46214	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92965	-3.08;-3.14;0.58	5.39	4.28	0.50868	.	0.296877	0.29822	N	0.011117	T	0.78836	0.4346	L	0.42245	1.32	0.80722	D	1	B;B	0.22146	0.065;0.065	B;B	0.16289	0.01;0.015	T	0.74850	-0.3524	9	.	.	.	.	7.3693	0.26792	0.0:0.6967:0.1812:0.1221	.	644;1249	B4DLC4;O15056	.;SYNJ2_HUMAN	S	1204;1249;334	ENSP00000356089:P1204S;ENSP00000347792:P1249S;ENSP00000356079:P334S	.	P	+	1	0	SYNJ2	158436638	0.993000	0.37304	0.883000	0.34634	0.990000	0.78478	0.540000	0.23191	1.405000	0.46838	0.650000	0.86243	CCC		0.527	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		Missense_Mutation	34	79	0	0	0	1	0	34	79				
ADCY2	108	broad.mit.edu	37	5	7727295	7727295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:7727295C>T	ENST00000338316.4	+	14	1881	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	ADCY2_ENST00000537121.1_Missense_Mutation_p.P418S|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	598					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CACGGCACTGCCAGCGTTCAA	0.502																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1792-1794)Cca>Tca		adenylate cyclase 2 (brain)							181.0	158.0	166.0					5																	7727295		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7727295C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1792C>T	5.37:g.7727295C>T	ENSP00000342952:p.Pro598Ser					ADCY2_ENST00000537121.1_Missense_Mutation_p.P418S|RP11-711G10.1_ENST00000514105.2_RNA	p.P598S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			14	1881	+			598					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1792C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384489	0.82792	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.76186	-1.0;-1.0	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.85221	0.5647	M	0.73217	2.22	0.58432	D	0.999993	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.988	D	0.86715	0.1938	10	0.72032	D	0.01	.	15.7101	0.77620	0.0:1.0:0.0:0.0	.	418;598	B7Z2C1;Q08462	.;ADCY2_HUMAN	S	598;431;418	ENSP00000342952:P598S;ENSP00000444803:P418S	ENSP00000342952:P598S	P	+	1	0	ADCY2	7780295	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.984000	0.76186	2.433000	0.82419	0.650000	0.86243	CCA		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		11	41	0	0	0	1	0	11	41				
CILP2	148113	broad.mit.edu	37	19	19655733	19655733	+	Silent	SNP	C	C	T	rs372806682		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19655733C>T	ENST00000291495.5	+	8	2464	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	CILP2_ENST00000586018.1_Silent_p.L799L	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	793						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGCCTGCCTCCCCGCCTTCT	0.741																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2395-2397)ctC>ctT		cartilage intermediate layer protein 2		C		0,3914		0,0,1957	6.0	8.0	7.0		2379	-0.5	1.0	19		7	10,8014		0,10,4002	no	coding-synonymous	CILP2	NM_153221.2		0,10,5959	TT,TC,CC		0.1246,0.0,0.0838		793/1157	19655733	10,11928	1957	4012	5969	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655733C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2379C>T	19.37:g.19655733C>T						CILP2_ENST00000291495.4_Silent_p.L793L	p.L799L			Q8IUL8	CILP2_HUMAN			8	2499	+			793					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2397C>T	CCDS12405.1																																																																																				0.741	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		9	8	0	0	0	1	0	9	8				
NDUFAF1	51103	broad.mit.edu	37	15	41688825	41688825	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41688825C>T	ENST00000260361.4	-	2	814	c.433G>A	c.(433-435)Gga>Aga	p.G145R		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	145					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTTCTGCCTCCAATCGTCTTA	0.488																																						ENST00000260361.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(433-435)Gga>Aga		NADH dehydrogenase (ubiquinone) complex I, assembly factor 1							92.0	87.0	88.0					15																	41688825		2203	4300	6503	SO:0001583	missense	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41688825C>T	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.433G>A	15.37:g.41688825C>T	ENSP00000260361:p.Gly145Arg						p.G145R	NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	2	814	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	145					Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	c.433G>A	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778629	0.90195	.	.	ENSG00000137806	ENST00000260361	D	0.88586	-2.4	4.7	4.7	0.59300	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96545	0.9403	10	0.87932	D	0	-13.2143	18.0656	0.89389	0.0:1.0:0.0:0.0	.	145	Q9Y375	CIA30_HUMAN	R	145	ENSP00000260361:G145R	ENSP00000260361:G145R	G	-	1	0	NDUFAF1	39476117	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.624000	0.83124	2.334000	0.79466	0.449000	0.29647	GGA		0.488	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		4	89	0	0	0	1	0	4	89				
ANO6	196527	broad.mit.edu	37	12	45814909	45814909	+	Missense_Mutation	SNP	C	C	T	rs143494717		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:45814909C>T	ENST00000320560.8	+	18	2475	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.S758F|ANO6_ENST00000435642.1_Missense_Mutation_p.S758F|ANO6_ENST00000423947.3_Missense_Mutation_p.S779F|ANO6_ENST00000441606.2_Missense_Mutation_p.S740F	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	758					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TACTACTGGTCCTTCTCCGTC	0.453																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2272-2274)tCc>tTc		anoctamin 6		C	PHE/SER,PHE/SER,PHE/SER,PHE/SER,PHE/SER	0,4406		0,0,2203	190.0	160.0	170.0		2273,2219,2273,2273,2336	5.1	1.0	12	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ANO6	NM_001025356.2,NM_001142678.1,NM_001142679.1,NM_001142680.1,NM_001204803.1	155,155,155,155,155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	758/911,740/893,758/930,758/930,779/932	45814909	1,13005	2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45814909C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2273C>T	12.37:g.45814909C>T	ENSP00000320087:p.Ser758Phe					ANO6_ENST00000441606.2_Missense_Mutation_p.S740F|ANO6_ENST00000423947.3_Missense_Mutation_p.S779F|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.S758F|ANO6_ENST00000435642.1_Missense_Mutation_p.S758F	p.S758F	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			18	2475	+			758					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2273C>T	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345899	0.82022	0.0	1.16E-4	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.70986	-0.53;-0.41;-0.53;-0.4;-0.4	5.05	5.05	0.67936	.	0.058296	0.64402	D	0.000001	D	0.83825	0.5338	M	0.78801	2.425	0.51482	D	0.99992	D;B;D;D	0.76494	0.992;0.171;0.999;0.958	D;B;D;P	0.69654	0.944;0.149;0.965;0.772	T	0.82226	-0.0562	10	0.34782	T	0.22	.	19.2834	0.94061	0.0:1.0:0.0:0.0	.	740;779;758;758	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	F	758;779;758;758;740	ENSP00000391417:S758F;ENSP00000409126:S779F;ENSP00000413840:S758F;ENSP00000320087:S758F;ENSP00000413137:S740F	ENSP00000320087:S758F	S	+	2	0	ANO6	44101176	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.956000	0.70315	2.717000	0.92951	0.650000	0.86243	TCC		0.453	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		6	93	0	0	0	1	0	6	93				
ASTN1	460	broad.mit.edu	37	1	176992704	176992704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:176992704C>T	ENST00000367654.3	-	7	1485	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	425					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGAAGCGGCTCCCTGCAGG	0.557																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1273-1275)aGc>aAc		astrotactin 1							39.0	37.0	37.0					1																	176992704		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992704C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1274G>A	1.37:g.176992704C>T	ENSP00000356626:p.Ser425Asn					ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N	p.S425N			O14525	ASTN1_HUMAN			7	1287	-			425					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1274G>A		.	.	.	.	.	.	.	.	.	.	C	16.80	3.221929	0.58560	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.21191	2.02;2.43;2.43;2.03	5.77	5.77	0.91146	.	0.181563	0.64402	D	0.000014	T	0.33556	0.0867	L	0.32530	0.975	0.50171	D	0.999858	D;D;P	0.63046	0.992;0.977;0.886	P;P;P	0.57009	0.811;0.709;0.461	T	0.02020	-1.1228	10	0.72032	D	0.01	-30.8582	19.5786	0.95455	0.0:1.0:0.0:0.0	.	425;425;425	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	425	ENSP00000356629:S425N;ENSP00000354536:S425N;ENSP00000356626:S425N;ENSP00000395041:S425N	ENSP00000354536:S425N	S	-	2	0	ASTN1	175259327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.921000	0.63397	2.726000	0.93360	0.655000	0.94253	AGC		0.557	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		5	30	0	0	0	1	0	5	30				
ITGAD	3681	broad.mit.edu	37	16	31426282	31426282	+	Silent	SNP	C	C	T	rs144306080		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:31426282C>T	ENST00000389202.2	+	18	2302	c.2253C>T	c.(2251-2253)gcC>gcT	p.A751A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	751					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGTGCTGGCCGTGGGCTCAC	0.537													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19491	0.0		0.0	False		,,,				2504	0.0					ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2251-2253)gcC>gcT		integrin, alpha D		C		7,4387	11.4+/-27.6	0,7,2190	113.0	102.0	105.0		2253	-9.1	0.0	16	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	ITGAD	NM_005353.2		0,7,6490	TT,TC,CC		0.0,0.1593,0.0539		751/1162	31426282	7,12987	2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31426282C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2253C>T	16.37:g.31426282C>T							p.A751A	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			18	2302	+			751					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2253C>T	CCDS32438.1																																																																																				0.537	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	66	0	0	0	1	0	7	66				
BRCA2	675	broad.mit.edu	37	13	32953609	32953609	+	Nonsense_Mutation	SNP	G	G	A	rs80359731|rs397508018		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:32953609G>A	ENST00000380152.3	+	22	9143	c.8910G>A	c.(8908-8910)tgG>tgA	p.W2970*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.W2970*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2970					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAACCGTGTGGAAGTTGCGTA	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8908-8910)tgG>tgA	Homologous recombination	breast cancer 2, early onset							129.0	124.0	126.0					13																	32953609		2203	4300	6503	SO:0001587	stop_gained	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32953609G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8910G>A	13.37:g.32953609G>A	ENSP00000369497:p.Trp2970*	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Nonsense_Mutation_p.W2970*	p.W2970*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	22	9137	+		Lung SC(185;0.0262)	2970					O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	c.8910G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	50	17.239419	0.99882	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9695	0.80001	0.0:0.1348:0.8652:0.0	.	.	.	.	X	2970	.	ENSP00000369497:W2970X	W	+	3	0	BRCA2	31851609	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.837000	0.69381	2.706000	0.92434	0.563000	0.77884	TGG		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		20	48	0	0	0	1	0	20	48				
CORIN	10699	broad.mit.edu	37	4	47676487	47676487	+	Missense_Mutation	SNP	C	C	T	rs542258831	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:47676487C>T	ENST00000273857.4	-	10	1279	c.1280G>A	c.(1279-1281)aGa>aAa	p.R427K	CORIN_ENST00000504584.1_Missense_Mutation_p.R390K|CORIN_ENST00000505909.1_Missense_Mutation_p.R390K|CORIN_ENST00000508498.1_Missense_Mutation_p.R288K|CORIN_ENST00000502252.1_Missense_Mutation_p.R360K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	427		Cleavage; by autolysis.			female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTAGAGGCATCTTTGGTCTCC	0.428													C|||	2	0.000399361	0.0	0.0	5008	,	,		20297	0.0		0.0	False		,,,				2504	0.002					ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1279-1281)aGa>aAa		corin, serine peptidase							216.0	195.0	202.0					4																	47676487		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47676487C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1280G>A	4.37:g.47676487C>T	ENSP00000273857:p.Arg427Lys					CORIN_ENST00000504584.1_Missense_Mutation_p.R390K|CORIN_ENST00000508498.1_Missense_Mutation_p.R288K|CORIN_ENST00000505909.1_Missense_Mutation_p.R390K|CORIN_ENST00000502252.1_Missense_Mutation_p.R360K	p.R427K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			10	1279	-			427					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1280G>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.448039	0.01080	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.92495	-2.57;-2.56;-2.56;-2.45;-3.05	4.83	2.1	0.27182	.	0.768100	0.12449	N	0.467964	D	0.86264	0.5891	L	0.43152	1.355	0.24831	N	0.992526	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.0;0.001	T	0.72623	-0.4237	10	0.24483	T	0.36	.	7.0797	0.25223	0.0:0.5733:0.2948:0.1319	.	390;390;360;427	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	K	427;288;360;390;390	ENSP00000273857:R427K;ENSP00000425597:R288K;ENSP00000424212:R360K;ENSP00000425401:R390K;ENSP00000423216:R390K	ENSP00000273857:R427K	R	-	2	0	CORIN	47371244	0.994000	0.37717	0.997000	0.53966	0.115000	0.19883	1.566000	0.36396	0.719000	0.32188	0.650000	0.86243	AGA		0.428	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			44	44	0	0	0	1	0	44	44				
CTCFL	140690	broad.mit.edu	37	20	56087678	56087678	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:56087678C>T	ENST00000608263.1	-	7	2122	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	CTCFL_ENST00000608858.1_5'Flank|CTCFL_ENST00000608425.1_Silent_p.K487K|CTCFL_ENST00000433949.3_Silent_p.K282K|CTCFL_ENST00000609232.1_Silent_p.K487K|CTCFL_ENST00000608440.1_Silent_p.K487K|CTCFL_ENST00000502686.2_Silent_p.K225K|CTCFL_ENST00000422869.2_Silent_p.K487K|CTCFL_ENST00000423479.3_Silent_p.K487K|CTCFL_ENST00000243914.3_Silent_p.K487K|CTCFL_ENST00000608903.1_Silent_p.K225K|CTCFL_ENST00000429804.3_Silent_p.K437K|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000539382.1_Silent_p.K282K|CTCFL_ENST00000371196.2_Silent_p.K487K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	487					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AGTGTTTGCACTTGAACCTCT	0.473																																						ENST00000429804.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1309-1311)aaG>aaA		CCCTC-binding factor (zinc finger protein)-like							117.0	100.0	106.0					20																	56087678		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56087678C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1461G>A	20.37:g.56087678C>T						CTCFL_ENST00000433949.2_Silent_p.K487K|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000371196.2_Silent_p.K487K|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Silent_p.K487K|CTCFL_ENST00000422869.2_Silent_p.K487K|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000243914.3_Silent_p.K487K|CTCFL_ENST00000539382.1_Silent_p.K282K|CTCFL_ENST00000502686.2_Silent_p.K225K	p.K437K	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		7	1871	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		487					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.1311G>A	CCDS13459.1																																																																																				0.473	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		29	49	0	0	0	1	0	29	49				
DDX59	83479	broad.mit.edu	37	1	200633100	200633100	+	Missense_Mutation	SNP	C	C	T	rs558924701	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:200633100C>T	ENST00000331314.6	-	3	1132	c.919G>A	c.(919-921)Gta>Ata	p.V307I	DDX59_ENST00000367348.3_Missense_Mutation_p.V307I|DDX59_ENST00000447706.2_Missense_Mutation_p.V307I	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	307	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAGCCCCCTACAAGAAGCACA	0.428													C|||	9	0.00179712	0.0	0.0014	5008	,	,		18367	0.0		0.0	False		,,,				2504	0.0082					ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(919-921)Gta>Ata		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							140.0	123.0	129.0					1																	200633100		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200633100C>T	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.919G>A	1.37:g.200633100C>T	ENSP00000330460:p.Val307Ile					DDX59_ENST00000331314.6_Missense_Mutation_p.V307I|DDX59_ENST00000367348.3_Missense_Mutation_p.V307I	p.V307I			Q5T1V6	DDX59_HUMAN			3	1070	-			307			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.919G>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558522	0.65538	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000367346;ENST00000331314	T;T;T	0.12879	2.64;2.64;2.64	5.75	5.75	0.90469	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	N	0.17631	0.505	0.80722	D	1	P;P	0.52061	0.95;0.95	P;P	0.59487	0.858;0.858	T	0.01360	-1.1375	10	0.40728	T	0.16	-23.0482	19.9417	0.97165	0.0:1.0:0.0:0.0	.	307;307	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	I	307;307;7;307	ENSP00000394367:V307I;ENSP00000356317:V307I;ENSP00000330460:V307I	ENSP00000330460:V307I	V	-	1	0	DDX59	198899723	1.000000	0.71417	0.100000	0.21137	0.143000	0.21401	5.810000	0.69179	2.720000	0.93068	0.655000	0.94253	GTA		0.428	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		15	45	0	0	0	1	0	15	45				
POC1A	25886	broad.mit.edu	37	3	52172272	52172272	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52172272G>A	ENST00000296484.2	-	7	765	c.726C>T	c.(724-726)aaC>aaT	p.N242N	POC1A_ENST00000474012.1_Silent_p.N204N|POC1A_ENST00000394970.2_Silent_p.N242N	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	242					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TGATCAGGTAGTTTCCCGACG	0.602																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(724-726)aaC>aaT		POC1 centriolar protein A							101.0	86.0	91.0					3																	52172272		2203	4300	6503	SO:0001819	synonymous_variant	25886					centriole|microtubule basal body		g.chr3:52172272G>A	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.726C>T	3.37:g.52172272G>A						POC1A_ENST00000474012.1_Silent_p.N204N|POC1A_ENST00000296484.2_Silent_p.N242N	p.N242N	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			7	1043	-			242					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Silent	SNP	ENST00000296484.2	37	c.726C>T	CCDS2846.1																																																																																				0.602	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		16	16	0	0	0	1	0	16	16				
MARVELD3	91862	broad.mit.edu	37	16	71668380	71668380	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:71668380C>T	ENST00000268485.3	+	3	924	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_3'UTR	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	294	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				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)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGTGTCCTGCGGGTCCCGTG	0.587																																						ENST00000268485.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(880-882)Cgg>Tgg		MARVEL domain containing 3							87.0	78.0	81.0					16																	71668380		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71668380C>T	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	ENST00000268485.3:c.880C>T	16.37:g.71668380C>T	ENSP00000268485:p.Arg294Trp					MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_3'UTR	p.R294W	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN			3	924	+		Ovarian(137;0.125)	294			MARVEL.		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	c.880C>T	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077127	0.55753	.	.	ENSG00000140832	ENST00000268485	T	0.52526	0.66	5.55	5.55	0.83447	Marvel (1);	.	.	.	.	T	0.67144	0.2862	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68507	-0.5390	9	0.72032	D	0.01	.	18.51	0.90913	0.0:1.0:0.0:0.0	.	294	Q96A59	MALD3_HUMAN	W	294	ENSP00000268485:R294W	ENSP00000268485:R294W	R	+	1	2	MARVELD3	70225881	1.000000	0.71417	0.977000	0.42913	0.026000	0.11368	5.175000	0.65021	2.606000	0.88127	0.655000	0.94253	CGG		0.587	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		18	47	0	0	0	1	0	18	47				
PLEKHA4	57664	broad.mit.edu	37	19	49348817	49348817	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49348817C>T	ENST00000263265.6	-	15	2178	c.1623G>A	c.(1621-1623)ggG>ggA	p.G541G	PLEKHA4_ENST00000355496.5_Silent_p.G516G	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	541						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CAGGAGGCCGCCCCCAGTCAG	0.562																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1621-1623)ggG>ggA		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							50.0	57.0	55.0					19																	49348817		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49348817C>T	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1623G>A	19.37:g.49348817C>T						PLEKHA4_ENST00000355496.5_Silent_p.G516G	p.G541G	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	15	2178	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	541					Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	c.1623G>A	CCDS12737.1																																																																																				0.562	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			28	41	0	0	0	1	0	28	41				
TBC1D1	23216	broad.mit.edu	37	4	38055908	38055908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:38055908C>T	ENST00000261439.4	+	12	2354	c.1999C>T	c.(1999-2001)Ctc>Ttc	p.L667F	TBC1D1_ENST00000508802.1_Missense_Mutation_p.L761F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	667					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCAGATATTCCTCCGAGTAGC	0.502																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(1999-2001)Ctc>Ttc		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							103.0	109.0	107.0					4																	38055908		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38055908C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1999C>T	4.37:g.38055908C>T	ENSP00000261439:p.Leu667Phe					TBC1D1_ENST00000508802.1_Missense_Mutation_p.L761F	p.L667F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			12	2354	+			667					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.1999C>T	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.074245|4.074245	0.76415|0.76415	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803;ENST00000421339|ENST00000510573	T;T;T;T|.	0.55588|.	3.3;0.51;0.51;0.51|.	5.64|5.64	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.47455|.	D|.	0.000230|.	T|T	0.73361|0.73361	0.3577|0.3577	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.91635|.	0.994;0.999;0.986;0.994|.	T|T	0.74520|0.74520	-0.3638|-0.3638	10|5	0.52906|.	T|.	0.07|.	-19.5359|-19.5359	10.5382|10.5382	0.45018|0.45018	0.0:0.8534:0.0:0.1466|0.0:0.8534:0.0:0.1466	.|.	667;761;399;667|.	B9A6J6;E9PGH8;Q6PJJ8;Q86TI0|.	.;.;.;TBCD1_HUMAN|.	F|L	761;667;538;135|354	ENSP00000423651:L761F;ENSP00000261439:L667F;ENSP00000396877:L538F;ENSP00000410167:L135F|.	ENSP00000261439:L667F|.	L|P	+|+	1|2	0|0	TBC1D1|TBC1D1	37732303|37732303	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.976000|0.976000	0.68499|0.68499	1.261000|1.261000	0.32980|0.32980	1.387000|1.387000	0.46486|0.46486	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.502	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		60	77	0	0	0	1	0	60	77				
TNFSF8	944	broad.mit.edu	37	9	117666517	117666517	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:117666517G>A	ENST00000223795.2	-	4	512	c.399C>T	c.(397-399)atC>atT	p.I133I	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	133					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CAGGGAATTGGATCACCAGAT	0.413																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(397-399)atC>atT		tumor necrosis factor (ligand) superfamily, member 8							152.0	146.0	148.0					9																	117666517		2203	4300	6503	SO:0001819	synonymous_variant	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666517G>A	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.399C>T	9.37:g.117666517G>A						TNFSF8_ENST00000474301.1_5'UTR	p.I133I	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			4	512	-			133					O43404	Silent	SNP	ENST00000223795.2	37	c.399C>T	CCDS6810.1																																																																																				0.413	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			43	69	0	0	0	1	0	43	69				
PTPN13	5783	broad.mit.edu	37	4	87724901	87724901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:87724901C>T	ENST00000411767.2	+	43	6608	c.6545C>T	c.(6544-6546)cCt>cTt	p.P2182L	PTPN13_ENST00000436978.1_Missense_Mutation_p.P2187L|PTPN13_ENST00000511467.1_Missense_Mutation_p.P2187L|PTPN13_ENST00000316707.6_Missense_Mutation_p.P1991L|PTPN13_ENST00000427191.2_Missense_Mutation_p.P2163L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2182					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCTGTACTCCCTGTCGTCAAA	0.423																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6559-6561)cCt>cTt		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							166.0	158.0	160.0					4																	87724901		1914	4126	6040	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87724901C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6545C>T	4.37:g.87724901C>T	ENSP00000407249:p.Pro2182Leu					PTPN13_ENST00000511467.1_Missense_Mutation_p.P2187L|PTPN13_ENST00000316707.6_Missense_Mutation_p.P1991L|PTPN13_ENST00000427191.2_Missense_Mutation_p.P2163L|PTPN13_ENST00000411767.2_Missense_Mutation_p.P2182L	p.P2187L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	43	7040	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2182					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6560C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704136	0.68615	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.18	5.18	0.71444	.	0.143052	0.32563	N	0.005937	T	0.23249	0.0562	M	0.68593	2.085	0.58432	D	0.999992	D;D;D;D	0.61080	0.97;0.989;0.981;0.989	P;P;P;P	0.51701	0.57;0.677;0.477;0.677	T	0.05370	-1.0889	10	0.08179	T	0.78	.	16.1397	0.81513	0.0:0.8667:0.1333:0.0	.	1991;2163;2182;2187	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	2163;2187;1991;2182;2187;2131	ENSP00000408368:P2163L;ENSP00000394794:P2187L;ENSP00000322675:P1991L;ENSP00000407249:P2182L;ENSP00000426626:P2187L	ENSP00000322675:P1991L	P	+	2	0	PTPN13	87943925	0.993000	0.37304	0.127000	0.21898	0.694000	0.40290	5.023000	0.64084	2.562000	0.86427	0.555000	0.69702	CCT		0.423	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			6	117	0	0	0	1	0	6	117				
KIAA1522	57648	broad.mit.edu	37	1	33237558	33237558	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:33237558C>T	ENST00000373480.1	+	6	2704	c.2601C>T	c.(2599-2601)ccC>ccT	p.P867P	KIAA1522_ENST00000401073.2_Silent_p.P926P|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.P878P	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	867	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTGCCCCCTCCTCAGGGC	0.706																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2776-2778)ccC>ccT		KIAA1522							9.0	11.0	10.0					1																	33237558		1867	4053	5920	SO:0001819	synonymous_variant	57648							g.chr1:33237558C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2601C>T	1.37:g.33237558C>T						KIAA1522_ENST00000373480.1_Silent_p.P867P|KIAA1522_ENST00000373481.3_Silent_p.P878P|KIAA1522_ENST00000294521.3_Intron	p.P926P	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2848	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	867			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.2778C>T	CCDS55588.1																																																																																				0.706	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			3	16	0	0	0	1	0	3	16				
PTPN14	5784	broad.mit.edu	37	1	214543031	214543031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:214543031C>T	ENST00000366956.5	-	17	3234	c.3040G>A	c.(3040-3042)Ggt>Agt	p.G1014S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1014	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTTCGTCCACCCTCCTAAATC	0.428																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3040-3042)Ggt>Agt		protein tyrosine phosphatase, non-receptor type 14							149.0	142.0	144.0					1																	214543031		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214543031C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3040G>A	1.37:g.214543031C>T	ENSP00000355923:p.Gly1014Ser					PTPN14_ENST00000543945.1_3'UTR	p.G1014S	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	17	3234	-			1014			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.3040G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666595	0.47677	.	.	ENSG00000152104	ENST00000366956	T	0.13901	2.55	5.51	4.4	0.53042	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.108734	0.64402	D	0.000007	T	0.11707	0.0285	L	0.37697	1.125	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.08472	-1.0720	10	0.25751	T	0.34	.	13.0056	0.58703	0.0:0.8659:0.0:0.1341	.	1014	Q15678	PTN14_HUMAN	S	1014	ENSP00000355923:G1014S	ENSP00000355923:G1014S	G	-	1	0	PTPN14	212609654	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	3.984000	0.56923	2.564000	0.86499	0.650000	0.86243	GGT		0.428	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		9	78	0	0	0	1	0	9	78				
FHOD1	29109	broad.mit.edu	37	16	67264590	67264590	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67264590G>A	ENST00000258201.4	-	18	3019	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	924	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGGCACGCAGGGCTGGGGCCA	0.652																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2770-2772)gcC>gcT		formin homology 2 domain containing 1							94.0	98.0	97.0					16																	67264590		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264590G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2772C>T	16.37:g.67264590G>A						FHOD1_ENST00000567687.1_Silent_p.A503A	p.A924A	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	18	3019	-		Ovarian(137;0.0563)	924			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.2772C>T	CCDS10834.1																																																																																				0.652	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			31	142	0	0	0	1	0	31	142				
STON1	11037	broad.mit.edu	37	2	48809515	48809515	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:48809515C>T	ENST00000406226.1	+	3	1938	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	STON1-GTF2A1L_ENST00000405008.1_Silent_p.A581A|STON1_ENST00000404752.1_Silent_p.A581A|STON1_ENST00000309835.3_Silent_p.A581A|STON1-GTF2A1L_ENST00000309827.2_Silent_p.A581A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A581A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A581A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A581A	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	581	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGATCAAGGCCCTTTGGACCA	0.493																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1741-1743)gcC>gcT		stonin 1							96.0	98.0	97.0					2																	48809515		2203	4300	6503	SO:0001819	synonymous_variant	11037							g.chr2:48809515C>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1743C>T	2.37:g.48809515C>T						STON1-GTF2A1L_ENST00000405008.1_Silent_p.A581A|STON1_ENST00000406226.1_Silent_p.A581A|STON1_ENST00000404752.1_Silent_p.A581A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A581A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A581A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A581A|STON1-GTF2A1L_ENST00000309827.2_Silent_p.A581A	p.A581A					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1753	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.1743C>T	CCDS1841.1																																																																																				0.493	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		50	56	0	0	0	1	0	50	56				
LRP6	4040	broad.mit.edu	37	12	12288108	12288108	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:12288108C>T	ENST00000261349.4	-	17	3810		c.e17+1		LRP6_ENST00000543091.1_Splice_Site|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Splice_Site	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6						anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AACATATTTACCTCCACATGA	0.408																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.e17+1		low density lipoprotein receptor-related protein 6							160.0	140.0	147.0					12																	12288108		2203	4300	6503	SO:0001630	splice_region_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12288108C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3733+1G>A	12.37:g.12288108C>T						LRP6_ENST00000540415.1_Splice_Site|LRP6_ENST00000543091.1_Splice_Site|BCL2L14_ENST00000396369.1_Intron		NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			17	3810	-		Prostate(47;0.0865)						Q17RZ2	Splice_Site	SNP	ENST00000261349.4	37		CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404517	0.83230	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9019	0.96988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP6	12179375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.781000	0.95711	0.650000	0.86243	.		0.408	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		Intron	14	91	0	0	0	1	0	14	91				
ANLN	54443	broad.mit.edu	37	7	36445834	36445834	+	Missense_Mutation	SNP	G	G	A	rs28657426		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36445834G>A	ENST00000265748.2	+	4	753	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	ANLN_ENST00000396068.2_Missense_Mutation_p.E178K	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	178	Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCCATCAGAGGAAAAGGCTGC	0.458																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(532-534)Gaa>Aaa		anillin, actin binding protein							78.0	79.0	79.0					7																	36445834		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36445834G>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.532G>A	7.37:g.36445834G>A	ENSP00000265748:p.Glu178Lys					ANLN_ENST00000396068.2_Missense_Mutation_p.E178K	p.E178K	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			4	753	+			178			Nuclear localization.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.532G>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	9.467	1.094580	0.20471	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865	T;T;T	0.30448	4.13;4.13;1.53	5.46	3.59	0.41128	.	1.065450	0.07125	N	0.844609	T	0.30510	0.0767	L	0.48362	1.52	0.09310	N	1	B;P;P;P	0.44195	0.098;0.736;0.828;0.736	B;B;B;B	0.39531	0.021;0.159;0.302;0.159	T	0.22487	-1.0215	10	0.56958	D	0.05	-1.868	10.8327	0.46669	0.0712:0.1323:0.7964:0.0	rs28657426	55;178;178;178	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	K	178;178;156	ENSP00000265748:E178K;ENSP00000379380:E178K;ENSP00000404979:E156K	ENSP00000265748:E178K	E	+	1	0	ANLN	36412359	1.000000	0.71417	0.083000	0.20561	0.102000	0.19082	3.782000	0.55401	1.392000	0.46585	0.557000	0.71058	GAA		0.458	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		27	84	0	0	0	1	0	27	84				
MET	4233	broad.mit.edu	37	7	116398544	116398544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116398544C>T	ENST00000318493.6	+	9	2321	c.2134C>T	c.(2134-2136)Cca>Tca	p.P712S	MET_ENST00000397752.3_Missense_Mutation_p.P712S|MET_ENST00000436117.2_Missense_Mutation_p.P712S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGTTATACCCCAGCCCAAAC	0.343			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2134-2136)Cca>Tca		met proto-oncogene							100.0	91.0	94.0					7																	116398544		1832	4082	5914	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116398544C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2134C>T	7.37:g.116398544C>T	ENSP00000317272:p.Pro712Ser					MET_ENST00000318493.6_Missense_Mutation_p.P712S|MET_ENST00000436117.2_Missense_Mutation_p.P712S	p.P712S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		9	2334	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	712			IPT/TIG 2.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2134C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625673	0.87560	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	D;D;D	0.86030	-2.06;-2.06;-2.06	5.37	5.37	0.77165	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	L	0.47716	1.5	0.80722	D	1	D;B;D;D;D	0.89917	1.0;0.032;0.984;0.984;1.0	D;B;D;P;D	0.91635	0.999;0.083;0.914;0.833;0.986	D	0.89084	0.3478	10	0.41790	T	0.15	.	19.4734	0.94973	0.0:1.0:0.0:0.0	.	712;712;712;712;712	B5A929;E7EQ94;B5A930;P08581-2;P08581	.;.;.;.;MET_HUMAN	S	712	ENSP00000380860:P712S;ENSP00000317272:P712S;ENSP00000410980:P712S	ENSP00000317272:P712S	P	+	1	0	MET	116185780	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.571000	0.67404	2.690000	0.91761	0.460000	0.39030	CCA		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			54	267	0	0	0	1	0	54	267				
DCSTAMP	81501	broad.mit.edu	37	8	105361381	105361381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:105361381G>A	ENST00000297581.2	+	2	650	c.601G>A	c.(601-603)Gca>Aca	p.A201T	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A201T|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	201					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GTACCAGATGGCAACAACCAC	0.547																																						ENST00000297581.2																			0											c.(601-603)Gca>Aca		dendrocyte expressed seven transmembrane protein							107.0	98.0	101.0					8																	105361381		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361381G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.601G>A	8.37:g.105361381G>A	ENSP00000297581:p.Ala201Thr					DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A201T	p.A201T	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	650	+			201					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.601G>A	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	1.073	-0.669168	0.03403	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.29917	1.55	5.53	-2.05	0.07321	.	1.167300	0.05867	N	0.624036	T	0.12347	0.0300	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29150	-1.0021	9	.	.	.	-0.1719	7.0143	0.24879	0.2825:0.0:0.5492:0.1683	.	201	Q9H295	TM7S4_HUMAN	T	201	ENSP00000297581:A201T	.	A	+	1	0	TM7SF4	105430557	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.030000	0.12308	-0.297000	0.08934	-0.459000	0.05422	GCA		0.547	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		10	118	0	0	0	1	0	10	118				
TANC1	85461	broad.mit.edu	37	2	160031627	160031627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:160031627C>T	ENST00000263635.6	+	12	1904	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	TANC1_ENST00000454300.1_Missense_Mutation_p.S450F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	556					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGCCTCCGATCCTGTGTGCAG	0.582																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(1666-1668)tCc>tTc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							67.0	71.0	69.0					2																	160031627		1992	4165	6157	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160031627C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1667C>T	2.37:g.160031627C>T	ENSP00000263635:p.Ser556Phe					TANC1_ENST00000454300.1_Missense_Mutation_p.S450F	p.S556F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			12	1904	+			556					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.1667C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092489	0.94149	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72051	-0.6;-0.62	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.85089	0.5617	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.87578	0.996;0.998;0.96	D	0.85675	0.1297	10	0.87932	D	0	.	20.142	0.98061	0.0:1.0:0.0:0.0	.	548;450;556	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	F	450;556	ENSP00000396339:S450F;ENSP00000263635:S556F	ENSP00000263635:S556F	S	+	2	0	TANC1	159739873	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.814000	0.86154	2.754000	0.94517	0.655000	0.94253	TCC		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			57	94	0	0	0	1	0	57	94				
METTL16	79066	broad.mit.edu	37	17	2323752	2323752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:2323752C>T	ENST00000263092.6	-	10	1328	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.D183N	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	401							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TGAATGACGTCCTCAGGAGCT	0.547																																						ENST00000263092.5																			0				kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1201-1203)Gac>Aac		methyltransferase like 16							93.0	98.0	97.0					17																	2323752		1861	4090	5951	SO:0001583	missense	79066						methyltransferase activity	g.chr17:2323752C>T	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.1201G>A	17.37:g.2323752C>T	ENSP00000263092:p.Asp401Asn					METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.D183N	p.D401N	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN			10	1328	-			401					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	c.1201G>A	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.526021	0.27299	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.46063	0.91;0.88	5.95	3.98	0.46160	.	0.307999	0.39759	N	0.001280	T	0.33177	0.0854	L	0.35723	1.085	0.20764	N	0.999858	B	0.12013	0.005	B	0.12156	0.007	T	0.15954	-1.0419	10	0.30854	T	0.27	-1.5375	13.2107	0.59822	0.0:0.9094:0.0:0.0906	.	401	Q86W50	MET16_HUMAN	N	401;81;183	ENSP00000263092:D401N;ENSP00000443633:D183N	ENSP00000263092:D401N	D	-	1	0	METTL16	2270502	0.918000	0.31147	0.798000	0.32154	0.424000	0.31475	3.446000	0.52928	0.860000	0.35481	0.655000	0.94253	GAC		0.547	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		42	92	0	0	0	1	0	42	92				
PDIA2	64714	broad.mit.edu	37	16	336854	336854	+	Missense_Mutation	SNP	C	C	T	rs138762531	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:336854C>T	ENST00000219406.6	+	10	1460	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	PDIA2_ENST00000404312.1_Missense_Mutation_p.T478I	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	481	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TACAAAAGCACCAGGGACCTG	0.652																																						ENST00000219406.6																			0				breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1441-1443)aCc>aTc		protein disulfide isomerase family A, member 2							13.0	15.0	15.0					16																	336854		1882	4078	5960	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:336854C>T	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1442C>T	16.37:g.336854C>T	ENSP00000219406:p.Thr481Ile					PDIA2_ENST00000404312.1_Missense_Mutation_p.T478I	p.T481I	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN			10	1460	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	481			Thioredoxin 2.		A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.1442C>T	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979583	0.34942	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312;ENST00000435833	T;T;T	0.03413	3.94;3.94;3.94	4.07	4.07	0.47477	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.833225	0.10689	N	0.645418	T	0.03651	0.0104	N	0.12182	0.205	0.26383	N	0.976703	B	0.19935	0.04	B	0.33121	0.158	T	0.38802	-0.9644	10	0.66056	D	0.02	.	9.2434	0.37511	0.3435:0.6565:0.0:0.0	.	481	Q13087	PDIA2_HUMAN	I	481;450;478;110	ENSP00000219406:T481I;ENSP00000384410:T478I;ENSP00000405081:T110I	ENSP00000219406:T481I	T	+	2	0	PDIA2	276855	0.008000	0.16893	0.841000	0.33234	0.635000	0.38103	0.633000	0.24598	2.124000	0.65301	0.561000	0.74099	ACC		0.652	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		11	15	0	0	0	1	0	11	15				
SIK3	23387	broad.mit.edu	37	11	116741093	116741093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:116741093C>T	ENST00000292055.4	-	14	1623	c.1588G>A	c.(1588-1590)Gac>Aac	p.D530N	SIK3_ENST00000446921.2_Missense_Mutation_p.D540N|SIK3_ENST00000542607.1_Missense_Mutation_p.D482N|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.D429N|SIK3_ENST00000488337.1_5'Flank|SIK3_ENST00000375300.1_Missense_Mutation_p.D588N	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	530					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTCTCCTCGTCCACAGGGGTA	0.562											OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1762-1764)Gac>Aac		SIK family kinase 3							80.0	71.0	74.0					11																	116741093		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116741093C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1588G>A	11.37:g.116741093C>T	ENSP00000292055:p.Asp530Asn		OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_ENST00000446921.2_Missense_Mutation_p.D540N|SIK3_ENST00000434315.2_Missense_Mutation_p.D429N|SIK3_ENST00000542607.1_Missense_Mutation_p.D482N|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.D530N	p.D588N			Q9Y2K2	SIK3_HUMAN			14	1767	-			530					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.1762G>A	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.040226|5.040226	0.93630|0.93630	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921;ENST00000413553	T;T;T;T|.	0.73363|.	-0.68;-0.72;-0.74;-0.28|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Protein kinase-like domain (1);|.	0.000000|.	0.41605|.	U|.	0.000842|.	T|T	0.69052|0.69052	0.3068|0.3068	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.87578|.	0.998;0.954;0.96|.	T|T	0.63134|0.63134	-0.6705|-0.6705	10|5	0.59425|.	D|.	0.04|.	.|.	20.006|20.006	0.97435|0.97435	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	482;429;530|.	A1A5A8;A1A5A9;Q9Y2K2|.	.;.;SIK3_HUMAN|.	N|E	588;530;482;429|581;504;490	ENSP00000364449:D588N;ENSP00000292055:D530N;ENSP00000438108:D482N;ENSP00000415873:D429N|.	ENSP00000292055:D530N|.	D|G	-|-	1|2	0|0	SIK3|SIK3	116246303|116246303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.270000|7.270000	0.78493|0.78493	2.739000|2.739000	0.93911|0.93911	0.591000|0.591000	0.81541|0.81541	GAC|GGA		0.562	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		4	32	0	0	0	1	0	4	32				
MXRA5	25878	broad.mit.edu	37	X	3236023	3236023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:3236023G>A	ENST00000217939.6	-	6	5853	c.5699C>T	c.(5698-5700)aCc>aTc	p.T1900I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1900	Ig-like C2-type 3.					extracellular vesicular exosome (GO:0070062)				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)				TTGTATCCTGGTATTCGGAGT	0.443																																						ENST00000217939.6																			0				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						c.(5698-5700)aCc>aTc		matrix-remodelling associated 5							37.0	30.0	33.0					X																	3236023		2202	4296	6498	SO:0001583	missense	25878					extracellular region		g.chrX:3236023G>A	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.5699C>T	X.37:g.3236023G>A	ENSP00000217939:p.Thr1900Ile						p.T1900I	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	5853	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1900			Ig-like C2-type 3.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5699C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	10.39	1.337286	0.24253	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67523	-0.27	3.22	3.22	0.36961	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35838	U	0.002953	T	0.74336	0.3703	L	0.49256	1.55	0.36602	D	0.874716	D	0.76494	0.999	D	0.73708	0.981	T	0.77879	-0.2423	10	0.41790	T	0.15	.	12.0209	0.53342	0.0:0.1712:0.8288:0.0	.	1900	Q9NR99	MXRA5_HUMAN	I	1900	ENSP00000217939:T1900I	ENSP00000217939:T1900I	T	-	2	0	MXRA5	3246023	1.000000	0.71417	0.005000	0.12908	0.123000	0.20343	3.538000	0.53597	1.239000	0.43787	0.529000	0.55759	ACC		0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		18	24	0	0	0	1	0	18	24				
PURA	5813	broad.mit.edu	37	5	139494027	139494027	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139494027G>A	ENST00000331327.3	+	1	320	c.261G>A	c.(259-261)aaG>aaA	p.K87K		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	87					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCCTGAAGATCGCCGAGG	0.627																																						ENST00000331327.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(259-261)aaG>aaA		purine-rich element binding protein A							23.0	23.0	23.0					5																	139494027		2203	4300	6503	SO:0001819	synonymous_variant	5813				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139494027G>A	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.261G>A	5.37:g.139494027G>A							p.K87K	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	320	+			87						Silent	SNP	ENST00000331327.3	37	c.261G>A	CCDS4220.1																																																																																				0.627	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	NM_005859		6	18	0	0	0	1	0	6	18				
TACC2	10579	broad.mit.edu	37	10	123971004	123971004	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:123971004A>T	ENST00000369005.1	+	9	7404	c.7064A>T	c.(7063-7065)aAa>aTa	p.K2355I	TACC2_ENST00000515603.1_Missense_Mutation_p.K2310I|TACC2_ENST00000260733.3_Missense_Mutation_p.K433I|TACC2_ENST00000369000.1_Missense_Mutation_p.K59I|TACC2_ENST00000369001.1_Missense_Mutation_p.K59I|TACC2_ENST00000358010.1_Missense_Mutation_p.K501I|TACC2_ENST00000513429.1_Missense_Mutation_p.K501I|TACC2_ENST00000368999.1_Missense_Mutation_p.K433I|TACC2_ENST00000515273.1_Missense_Mutation_p.K2359I|TACC2_ENST00000453444.2_Missense_Mutation_p.K2359I|TACC2_ENST00000360561.3_Missense_Mutation_p.K433I|TACC2_ENST00000369004.3_Missense_Mutation_p.K433I|TACC2_ENST00000334433.3_Missense_Mutation_p.K2355I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2355	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCACCTCAAAAATGCAGGAG	0.463																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7063-7065)aAa>aTa		transforming, acidic coiled-coil containing protein 2							170.0	185.0	180.0					10																	123971004		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123971004A>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7064A>T	10.37:g.123971004A>T	ENSP00000358001:p.Lys2355Ile					TACC2_ENST00000369004.3_Missense_Mutation_p.K433I|TACC2_ENST00000369000.1_Missense_Mutation_p.K59I|TACC2_ENST00000368999.1_Missense_Mutation_p.K433I|TACC2_ENST00000358010.1_Missense_Mutation_p.K501I|TACC2_ENST00000453444.2_Missense_Mutation_p.K2359I|TACC2_ENST00000260733.3_Missense_Mutation_p.K433I|TACC2_ENST00000515603.1_Missense_Mutation_p.K2310I|TACC2_ENST00000515273.1_Missense_Mutation_p.K2359I|TACC2_ENST00000360561.3_Missense_Mutation_p.K433I|TACC2_ENST00000513429.1_Missense_Mutation_p.K501I|TACC2_ENST00000369001.1_Missense_Mutation_p.K59I|TACC2_ENST00000334433.3_Missense_Mutation_p.K2355I	p.K2355I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7404	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2355			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7064A>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.413254	0.62511	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.22743	3.79;3.37;3.83;3.82;3.79;3.37;3.83;1.96;1.94;3.24;3.25;3.24;3.25;2.86;2.23	4.74	4.74	0.60224	.	0.000000	0.39407	N	0.001375	T	0.36608	0.0973	L	0.39633	1.23	0.41898	D	0.990408	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.998;0.998;0.999;0.999;0.994;0.999;0.999	D;D;D;D;D;D;D;D;D;D	0.85130	0.984;0.993;0.997;0.993;0.993;0.977;0.977;0.918;0.977;0.997	T	0.07195	-1.0785	10	0.38643	T	0.18	-14.573	14.5623	0.68148	1.0:0.0:0.0:0.0	.	450;2359;433;2310;2359;433;433;59;501;2355	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	I	2355;501;2359;2310;2355;501;2359;2345;59;59;433;433;433;433;450;94	ENSP00000358001:K2355I;ENSP00000425062:K501I;ENSP00000424467:K2359I;ENSP00000427618:K2310I;ENSP00000334280:K2355I;ENSP00000350701:K501I;ENSP00000395048:K2359I;ENSP00000357997:K59I;ENSP00000357996:K59I;ENSP00000353763:K433I;ENSP00000357995:K433I;ENSP00000422815:K433I;ENSP00000260733:K433I;ENSP00000420967:K450I;ENSP00000422725:K94I	ENSP00000260733:K433I	K	+	2	0	TACC2	123960994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.144000	0.58057	1.911000	0.55334	0.454000	0.30748	AAA		0.463	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			99	25	0	0	0	1	0	99	25				
BRPF3	27154	broad.mit.edu	37	6	36168506	36168506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36168506C>T	ENST00000357641.6	+	2	660	c.407C>T	c.(406-408)gCc>gTc	p.A136V	BRPF3_ENST00000543502.1_Missense_Mutation_p.A136V|BRPF3_ENST00000443324.2_Missense_Mutation_p.A136V|BRPF3_ENST00000534400.1_Missense_Mutation_p.A136V|BRPF3_ENST00000534694.1_Missense_Mutation_p.A136V|BRPF3_ENST00000339717.7_Missense_Mutation_p.A136V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	136					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTGCCTGCTGCCTACTACCGC	0.562																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(406-408)gCc>gTc		bromodomain and PHD finger containing, 3							87.0	77.0	81.0					6																	36168506		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168506C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.407C>T	6.37:g.36168506C>T	ENSP00000350267:p.Ala136Val					BRPF3_ENST00000339717.7_Missense_Mutation_p.A136V|BRPF3_ENST00000534694.1_Missense_Mutation_p.A136V|BRPF3_ENST00000534400.1_Missense_Mutation_p.A136V|BRPF3_ENST00000543502.1_Missense_Mutation_p.A136V|BRPF3_ENST00000443324.2_Missense_Mutation_p.A136V	p.A136V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	660	+			136					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.407C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555529	0.65425	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.63	5.63	0.86233	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	L	0.53780	1.695	0.58432	D	0.999995	P;P;D	0.67145	0.943;0.943;0.996	P;P;D	0.63597	0.808;0.808;0.916	T	0.18053	-1.0349	10	0.16896	T	0.51	.	15.2423	0.73480	0.0:0.86:0.14:0.0	.	136;136;136	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	V	136	ENSP00000350267:A136V;ENSP00000345419:A136V;ENSP00000434501:A136V;ENSP00000445352:A136V;ENSP00000387368:A136V;ENSP00000436504:A136V	ENSP00000345419:A136V	A	+	2	0	BRPF3	36276484	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.651000	0.67951	2.666000	0.90696	0.558000	0.71614	GCC		0.562	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		18	37	0	0	0	1	0	18	37				
CNTROB	116840	broad.mit.edu	37	17	7838346	7838346	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7838346C>T	ENST00000563694.1	+	4	1402	c.477C>T	c.(475-477)gcC>gcT	p.A159A	CNTROB_ENST00000565740.1_Silent_p.A159A|CNTROB_ENST00000380262.3_Silent_p.A159A|CNTROB_ENST00000380255.3_Silent_p.A159A	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	159					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTAGCTCAGCCCAAGCCCTGG	0.557																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(475-477)gcC>gcT		centrobin, centrosomal BRCA2 interacting protein							72.0	72.0	72.0					17																	7838346		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7838346C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.477C>T	17.37:g.7838346C>T						CNTROB_ENST00000563694.1_Silent_p.A159A|CNTROB_ENST00000380255.3_Silent_p.A159A|CNTROB_ENST00000565740.1_Silent_p.A159A	p.A159A	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			4	1402	+		Prostate(122;0.173)	159					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.477C>T	CCDS11126.1																																																																																				0.557	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		29	47	0	0	0	1	0	29	47				
LINS	55180	broad.mit.edu	37	15	101114143	101114143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:101114143C>T	ENST00000314742.8	-	5	1157	c.935G>A	c.(934-936)gGt>gAt	p.G312D	LINS_ENST00000561308.1_Missense_Mutation_p.G312D|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Missense_Mutation_p.G193D	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	312										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GAGGTCTTCACCCACTTTACA	0.458																																						ENST00000314742.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(934-936)gGt>gAt		lines homolog (Drosophila)							108.0	97.0	101.0					15																	101114143		2203	4300	6503	SO:0001583	missense	55180							g.chr15:101114143C>T	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.935G>A	15.37:g.101114143C>T	ENSP00000318423:p.Gly312Asp					LINS_ENST00000561308.1_Missense_Mutation_p.G312D|LINS_ENST00000560133.1_Missense_Mutation_p.G193D|LINS_ENST00000559149.1_5'UTR	p.G312D	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			5	1157	-			312					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.935G>A	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231968	0.79688	.	.	ENSG00000140471	ENST00000314742	T	0.13538	2.58	6.07	6.07	0.98685	.	0.102496	0.64402	D	0.000003	T	0.38081	0.1027	M	0.72894	2.215	0.36418	D	0.864121	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;0.992	T	0.32322	-0.9911	10	0.66056	D	0.02	-26.1768	15.7545	0.78013	0.0:0.9334:0.0:0.0666	.	193;312;312	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	D	312	ENSP00000318423:G312D	ENSP00000318423:G312D	G	-	2	0	LINS	98931666	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	3.979000	0.56888	2.885000	0.99019	0.655000	0.94253	GGT		0.458	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		21	43	0	0	0	1	0	21	43				
ART1	417	broad.mit.edu	37	11	3681478	3681478	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:3681478C>T	ENST00000250693.1	+	3	830	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	243					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		AGGTGCTGATCCCCCCCTTTG	0.607																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(727-729)atC>atT		ADP-ribosyltransferase 1	Becaplermin(DB00102)						50.0	51.0	51.0					11																	3681478		2201	4298	6499	SO:0001819	synonymous_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681478C>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.729C>T	11.37:g.3681478C>T							p.I243I	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	830	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	243					Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	c.729C>T	CCDS7744.1																																																																																				0.607	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		18	15	0	0	0	1	0	18	15				
PLEKHA8	84725	broad.mit.edu	37	7	30092453	30092453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:30092453G>A	ENST00000449726.1	+	7	1117	c.767G>A	c.(766-768)aGt>aAt	p.S256N	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S256N|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S256N|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S256N	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	256					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGCATATCAAGTGAGGAAAAT	0.284																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(766-768)aGt>aAt		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							35.0	33.0	34.0					7																	30092453		2184	4295	6479	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30092453G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.767G>A	7.37:g.30092453G>A	ENSP00000397947:p.Ser256Asn					PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S256N|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S256N|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S256N	p.S256N	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			7	1117	+			256					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.767G>A	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760624	0.31137	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.85	4.02	0.46733	.	0.512221	0.20573	N	0.089681	T	0.12817	0.0311	N	0.08118	0	0.23896	N	0.996532	P;P;P;P	0.37276	0.589;0.454;0.557;0.514	B;B;B;B	0.35971	0.211;0.073;0.215;0.064	T	0.06661	-1.0814	9	0.31617	T	0.26	-24.4176	3.7421	0.08534	0.0914:0.2087:0.5551:0.1448	.	256;256;256;256	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	N	256;256;256;256;282	.	ENSP00000258679:S256N	S	+	2	0	PLEKHA8	30058978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.952000	0.40343	1.483000	0.48342	0.655000	0.94253	AGT		0.284	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		9	44	0	0	0	1	0	9	44				
PKHD1	5314	broad.mit.edu	37	6	51777325	51777325	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:51777325G>A	ENST00000371117.3	-	38	6446	c.6171C>T	c.(6169-6171)gcC>gcT	p.A2057A	PKHD1_ENST00000340994.4_Silent_p.A2057A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2057					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGTGTCTAGGGCATGGGCAG	0.453																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6169-6171)gcC>gcT		polycystic kidney and hepatic disease 1 (autosomal recessive)							136.0	123.0	128.0					6																	51777325		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51777325G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6171C>T	6.37:g.51777325G>A						PKHD1_ENST00000340994.4_Silent_p.A2057A	p.A2057A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			38	6446	-	Lung NSC(77;0.0605)		2057					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.6171C>T	CCDS4935.1																																																																																				0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		27	54	0	0	0	1	0	27	54				
FCRL3	115352	broad.mit.edu	37	1	157665355	157665355	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:157665355G>A	ENST00000368184.3	-	8	1466	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.A392V|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	392	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CACAGTGTGGGCCCTGGGAGC	0.572																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1174-1176)gCc>gTc		Fc receptor-like 3							43.0	44.0	44.0					1																	157665355		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665355G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1175C>T	1.37:g.157665355G>A	ENSP00000357167:p.Ala392Val					FCRL3_ENST00000368186.5_Missense_Mutation_p.A392V|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	p.A392V	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			8	1466	-	all_hematologic(112;0.0378)		392			Ig-like C2-type 5.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1175C>T	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	3.730	-0.055663	0.07362	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.02737	4.18;4.18	5.56	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.146929	0.31438	N	0.007643	T	0.01661	0.0053	M	0.73430	2.235	0.09310	N	1	B;B;B	0.21071	0.029;0.004;0.051	B;B;B	0.29077	0.098;0.081;0.046	T	0.45775	-0.9238	10	0.26408	T	0.33	.	9.8717	0.41177	0.2527:0.0:0.7473:0.0	.	392;297;392	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	V	392	ENSP00000357169:A392V;ENSP00000357167:A392V	ENSP00000292392:A392V	A	-	2	0	FCRL3	155931979	0.001000	0.12720	0.067000	0.19924	0.002000	0.02628	0.086000	0.14935	0.044000	0.15775	-0.797000	0.03246	GCC		0.572	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		15	40	0	0	0	1	0	15	40				
COG1	9382	broad.mit.edu	37	17	71202370	71202370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:71202370G>A	ENST00000299886.4	+	11	2668	c.2588G>A	c.(2587-2589)aGc>aAc	p.S863N		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	863					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CACCTCAACAGCAACCTTCAT	0.448																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(2587-2589)aGc>aAc		component of oligomeric golgi complex 1							127.0	109.0	115.0					17																	71202370		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71202370G>A		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2588G>A	17.37:g.71202370G>A	ENSP00000299886:p.Ser863Asn						p.S863N	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		11	2668	+			863					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.2588G>A	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058776	0.36277	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.23147	1.92;1.92	5.7	5.7	0.88788	.	0.155080	0.64402	D	0.000008	T	0.41003	0.1140	L	0.49640	1.575	0.44652	D	0.997635	D;D;D	0.67145	0.996;0.973;0.996	P;P;P	0.59546	0.859;0.663;0.859	T	0.03875	-1.0996	10	0.39692	T	0.17	-30.9408	15.3353	0.74247	0.0:0.139:0.861:0.0	.	863;863;863	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	N	863	ENSP00000400111:S863N;ENSP00000299886:S863N	ENSP00000299886:S863N	S	+	2	0	COG1	68713965	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	3.803000	0.55560	2.683000	0.91414	0.655000	0.94253	AGC		0.448	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			28	48	0	0	0	1	0	28	48				
FMN2	56776	broad.mit.edu	37	1	240371468	240371468	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:240371468C>T	ENST00000319653.9	+	5	3586	c.3356C>T	c.(3355-3357)cCc>cTc	p.P1119L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1119	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGGGCATACCCCCTCCTCCC	0.716																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3355-3357)cCc>cTc		formin 2							8.0	10.0	9.0					1																	240371468		2095	4133	6228	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371468C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3356C>T	1.37:g.240371468C>T	ENSP00000318884:p.Pro1119Leu						p.P1119L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3586	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1119			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3356C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	10.09	1.253844	0.22965	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.16	2.19	0.27852	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.000000	0.53938	D	0.000045	T	0.79197	0.4405	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.80096	-0.1525	9	.	.	.	.	9.5382	0.39235	0.2112:0.7888:0.0:0.0	.	1119	Q9NZ56	FMN2_HUMAN	L	1119	ENSP00000318884:P1119L	.	P	+	2	0	FMN2	238438091	0.011000	0.17503	0.005000	0.12908	0.013000	0.08279	1.878000	0.39608	0.615000	0.30124	0.484000	0.47621	CCC		0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		2	3	0	0	0	1	0	2	3				
KIAA2022	340533	broad.mit.edu	37	X	73963466	73963466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:73963466G>A	ENST00000055682.6	-	3	1537	c.926C>T	c.(925-927)tCc>tTc	p.S309F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	309					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)			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						AATTTTCAGGGAGCAGACATC	0.398																																						ENST00000373468.1																			0				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						c.(925-927)tCc>tTc		KIAA2022							106.0	91.0	96.0					X																	73963466		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963466G>A		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.926C>T	X.37:g.73963466G>A	ENSP00000055682:p.Ser309Phe					KIAA2022_ENST00000055682.5_Missense_Mutation_p.S309F	p.S309F			Q5QGS0	K2022_HUMAN			3	1577	-			309					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.926C>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573781	0.65765	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.36699	1.24;1.24	5.83	5.83	0.93111	.	0.053505	0.85682	D	0.000000	T	0.57621	0.2066	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58584	-0.7611	10	0.87932	D	0	-7.618	19.0708	0.93136	0.0:0.0:1.0:0.0	.	309	Q5QGS0	K2022_HUMAN	F	309	ENSP00000362567:S309F;ENSP00000055682:S309F	ENSP00000055682:S309F	S	-	2	0	KIAA2022	73880191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.453000	0.82957	0.600000	0.82982	TCC		0.398	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		5	117	0	0	0	1	0	5	117				
AXIN2	8313	broad.mit.edu	37	17	63554681	63554681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:63554681C>T	ENST00000375702.5	-	1	166	c.58G>A	c.(58-60)Gat>Aat	p.D20N	AXIN2_ENST00000307078.5_Missense_Mutation_p.D20N|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	20					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)			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						CGCGGGGCATCCTCACGGAAG	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				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						c.(58-60)Gat>Aat		axin 2							31.0	35.0	34.0					17																	63554681		2202	4299	6501	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554681C>T	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.58G>A	17.37:g.63554681C>T	ENSP00000364854:p.Asp20Asn					CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.D20N	p.D20N	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	371	-			20					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.58G>A		.	.	.	.	.	.	.	.	.	.	C	14.11	2.437723	0.43224	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.79940	-0.4;-1.32;-0.4	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.89184	0.3546	10	0.72032	D	0.01	-17.2731	16.5149	0.84297	0.0:1.0:0.0:0.0	.	20;20;20	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	N	20	ENSP00000302625:D20N;ENSP00000441151:D20N;ENSP00000364854:D20N	ENSP00000302625:D20N	D	-	1	0	AXIN2	60985143	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	7.345000	0.79337	2.163000	0.67991	0.561000	0.74099	GAT		0.617	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		6	36	0	0	0	1	0	6	36				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	56	0	0	0	1	0	5	56				
PCDHB5	26167	broad.mit.edu	37	5	140515372	140515372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140515372C>T	ENST00000231134.5	+	1	573	c.356C>T	c.(355-357)aCt>aTt	p.T119I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	119	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTTTCAAACTGATCTGCAG	0.463																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(355-357)aCt>aTt									61.0	68.0	66.0					5																	140515372		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515372C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.356C>T	5.37:g.140515372C>T	ENSP00000231134:p.Thr119Ile						p.T119I	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	573	+			119			Cadherin 1.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.356C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	3.452	-0.111719	0.06881	.	.	ENSG00000113209	ENST00000231134	T	0.42513	0.97	5.37	-0.111	0.13576	Cadherin (1);	.	.	.	.	T	0.10766	0.0263	N	0.00258	-1.755	0.09310	N	1	B	0.19817	0.039	B	0.17098	0.017	T	0.34775	-0.9815	9	0.20519	T	0.43	.	8.2483	0.31702	0.0:0.262:0.1193:0.6187	.	119	Q9Y5E4	PCDB5_HUMAN	I	119	ENSP00000231134:T119I	ENSP00000231134:T119I	T	+	2	0	PCDHB5	140495556	0.000000	0.05858	0.449000	0.26957	0.891000	0.51852	-0.211000	0.09332	-0.218000	0.10018	-0.378000	0.06908	ACT		0.463	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		26	53	0	0	0	1	0	26	53				
SP6	80320	broad.mit.edu	37	17	45925666	45925666	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:45925666G>A	ENST00000536300.1	-	2	461	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	SP6_ENST00000342234.2_Missense_Mutation_p.P44S	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	44					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						AGCGGGGAGGGGTAGTCCCCG	0.711																																						ENST00000536300.1																			0				large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						c.(130-132)Ccc>Tcc		Sp6 transcription factor							10.0	12.0	11.0					17																	45925666		2171	4261	6432	SO:0001583	missense	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45925666G>A		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.130C>T	17.37:g.45925666G>A	ENSP00000438209:p.Pro44Ser					SP6_ENST00000342234.2_Missense_Mutation_p.P44S	p.P44S	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN			2	461	-			44					B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	c.130C>T	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402149	0.42613	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.08720	3.06;3.06	4.44	4.44	0.53790	.	0.000000	0.43416	D	0.000579	T	0.04770	0.0129	N	0.08118	0	0.32778	N	0.50288	P	0.37233	0.588	B	0.30646	0.118	T	0.22765	-1.0207	10	0.42905	T	0.14	.	15.9866	0.80157	0.0:0.0:1.0:0.0	.	44	Q3SY56	SP6_HUMAN	S	44	ENSP00000340799:P44S;ENSP00000438209:P44S	ENSP00000340799:P44S	P	-	1	0	SP6	43280665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.575000	0.53870	2.288000	0.76882	0.462000	0.41574	CCC		0.711	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		10	14	0	0	0	1	0	10	14				
GPX8	493869	broad.mit.edu	37	5	54459990	54459990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:54459990C>T	ENST00000503787.1	+	3	649	c.574C>T	c.(574-576)Cct>Tct	p.P192S	GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.P141S|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000296734.6_3'UTR	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	192					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	AGTCATCAGGCCTGACATAGC	0.423																																						ENST00000503787.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(574-576)Cct>Tct		glutathione peroxidase 8 (putative)	Glutathione(DB00143)						59.0	60.0	60.0					5																	54459990		2203	4300	6503	SO:0001583	missense	493869				response to oxidative stress	integral to membrane	glutathione peroxidase activity	g.chr5:54459990C>T	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.574C>T	5.37:g.54459990C>T	ENSP00000423822:p.Pro192Ser					CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.P141S|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000296734.6_3'UTR|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000296733.1_Intron	p.P192S	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN			3	649	+			192						Missense_Mutation	SNP	ENST00000503787.1	37	c.574C>T	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031953	0.54790	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.03689	3.84;3.84	5.92	5.92	0.95590	Thioredoxin-like fold (2);	0.146527	0.64402	D	0.000006	T	0.04497	0.0123	L	0.35793	1.09	0.37966	D	0.933139	P;P	0.49253	0.808;0.921	B;B	0.37888	0.146;0.26	T	0.57201	-0.7852	10	0.20519	T	0.43	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	141;192	E7ETY7;Q8TED1	.;GPX8_HUMAN	S	192;141	ENSP00000423822:P192S;ENSP00000427466:P141S	ENSP00000423822:P192S	P	+	1	0	GPX8	54495747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.863000	0.48396	2.794000	0.96219	0.650000	0.86243	CCT		0.423	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		10	40	0	0	0	1	0	10	40				
PANK4	55229	broad.mit.edu	37	1	2447003	2447003	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:2447003C>T	ENST00000378466.3	-	10	1384	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R	PANK4_ENST00000435556.3_Missense_Mutation_p.G419R	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	458					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCCTCACCCCGTCCAGGGCC	0.662																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(1372-1374)Ggg>Agg		pantothenate kinase 4							56.0	56.0	56.0					1																	2447003		2202	4300	6502	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2447003C>T	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1372G>A	1.37:g.2447003C>T	ENSP00000367727:p.Gly458Arg					PANK4_ENST00000435556.3_Missense_Mutation_p.G419R	p.G458R	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	10	1384	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	458					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.1372G>A	CCDS42.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970965	0.74246	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.06449	3.3;3.3	5.35	5.35	0.76521	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.15132	0.0365	L	0.47190	1.495	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.54590	0.756;0.756	T	0.00443	-1.1736	10	0.44086	T	0.13	-46.6325	18.0422	0.89322	0.0:1.0:0.0:0.0	.	419;458	E9PHT6;Q9NVE7	.;PANK4_HUMAN	R	458;419	ENSP00000367727:G458R;ENSP00000421433:G419R	ENSP00000367727:G458R	G	-	1	0	PANK4	2436863	1.000000	0.71417	0.985000	0.45067	0.804000	0.45430	7.052000	0.76634	2.519000	0.84933	0.561000	0.74099	GGG		0.662	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			4	65	0	0	0	1	0	4	65				
ETS2	2114	broad.mit.edu	37	21	40190487	40190487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:40190487G>A	ENST00000360214.3	+	8	1188	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	ETS2_ENST00000360938.3_Missense_Mutation_p.R243Q	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	243					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CCCAAGTCTCGGCTCAGCTCC	0.547																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(727-729)cGg>cAg		v-ets avian erythroblastosis virus E26 oncogene homolog 2							237.0	230.0	232.0					21																	40190487		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40190487G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.728G>A	21.37:g.40190487G>A	ENSP00000353344:p.Arg243Gln					ETS2_ENST00000360938.3_Missense_Mutation_p.R243Q	p.R243Q	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			8	1188	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	243					A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.728G>A	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	8.422	0.846687	0.16963	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000456966	T;T;T	0.30714	2.81;2.81;1.52	6.16	4.38	0.52667	.	0.587337	0.19087	N	0.123063	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	1	B;B	0.16603	0.001;0.018	B;B	0.04013	0.001;0.001	T	0.26677	-1.0096	10	0.10377	T	0.69	.	9.5813	0.39490	0.2573:0.0:0.7427:0.0	.	243;243	P15036;C9JAG2	ETS2_HUMAN;.	Q	243	ENSP00000353344:R243Q;ENSP00000354194:R243Q;ENSP00000411086:R243Q	ENSP00000353344:R243Q	R	+	2	0	ETS2	39112357	0.886000	0.30341	0.157000	0.22605	0.465000	0.32709	2.961000	0.49168	0.947000	0.37659	0.650000	0.86243	CGG		0.547	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			11	260	0	0	0	1	0	11	260				
PPP1R17	10842	broad.mit.edu	37	7	31735136	31735136	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:31735136A>G	ENST00000342032.3	+	3	764	c.136A>G	c.(136-138)Aag>Gag	p.K46E	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	46					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAAGCCTAGAAAGGGAAAAAA	0.393																																						ENST00000342032.3																			0											c.(136-138)Aag>Gag		protein phosphatase 1, regulatory subunit 17							107.0	109.0	108.0					7																	31735136		2203	4300	6503	SO:0001583	missense	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735136A>G	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.136A>G	7.37:g.31735136A>G	ENSP00000340125:p.Lys46Glu					PPP1R17_ENST00000409146.3_Intron	p.K46E	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	764	+			46					B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.136A>G	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941312	0.53079	.	.	ENSG00000106341	ENST00000342032	T	0.37915	1.17	5.45	4.3	0.51218	.	0.063994	0.64402	D	0.000005	T	0.29882	0.0747	L	0.52364	1.645	0.80722	D	1	P	0.40107	0.703	B	0.35470	0.203	T	0.11084	-1.0602	10	0.45353	T	0.12	-21.6618	10.7572	0.46243	0.9246:0.0:0.0754:0.0	.	46	O96001	PPR17_HUMAN	E	46	ENSP00000340125:K46E	ENSP00000340125:K46E	K	+	1	0	C7orf16	31701661	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.470000	0.53100	2.195000	0.70347	0.533000	0.62120	AAG		0.393	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		51	108	0	0	0	1	0	51	108				
DST	667	broad.mit.edu	37	6	56458746	56458746	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:56458746C>T	ENST00000361203.3	-	44	11815	c.11808G>A	c.(11806-11808)gaG>gaA	p.E3936E	DST_ENST00000370754.5_Silent_p.E4116E|DST_ENST00000370769.4_Silent_p.E3938E|DST_ENST00000446842.2_Silent_p.E3612E|DST_ENST00000421834.2_Silent_p.E1850E|DST_ENST00000312431.6_Silent_p.E3936E|DST_ENST00000370788.2_Silent_p.E1850E|DST_ENST00000244364.6_Silent_p.E1524E			Q03001	DYST_HUMAN	dystonin	3936					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTAGCCAGTGCTCAAACTCGG	0.413																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(12346-12348)gaG>gaA		dystonin							97.0	92.0	93.0					6																	56458746		1922	4136	6058	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458746C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11808G>A	6.37:g.56458746C>T						DST_ENST00000361203.3_Silent_p.E3936E|DST_ENST00000370788.2_Silent_p.E1850E|DST_ENST00000312431.6_Silent_p.E3936E|DST_ENST00000370769.4_Silent_p.E3938E|DST_ENST00000244364.6_Silent_p.E1524E|DST_ENST00000446842.2_Silent_p.E3612E|DST_ENST00000421834.2_Silent_p.E1850E	p.E4116E			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		48	12347	-	Lung NSC(77;0.103)		3936					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.12348G>A																																																																																					0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		27	58	0	0	0	1	0	27	58				
LIMA1	51474	broad.mit.edu	37	12	50571396	50571396	+	Silent	SNP	C	C	T	rs370081421		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:50571396C>T	ENST00000341247.4	-	11	1880	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	LIMA1_ENST00000547825.1_Silent_p.K275K|LIMA1_ENST00000552909.1_Silent_p.K416K|LIMA1_ENST00000552823.1_Silent_p.K417K|LIMA1_ENST00000552491.1_Silent_p.K274K|LIMA1_ENST00000394943.3_Silent_p.K578K|LIMA1_ENST00000552783.1_Silent_p.K418K	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	577					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATCGTCTTAGCTTCTTCAGAT	0.483																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(823-825)aaG>aaA		LIM domain and actin binding 1		C	,,	0,4406		0,0,2203	123.0	124.0	124.0		1734,1254,1731	2.7	1.0	12		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LIMA1	NM_001113546.1,NM_001113547.1,NM_016357.4	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	578/761,418/601,577/760	50571396	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571396C>T	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1731G>A	12.37:g.50571396C>T						LIMA1_ENST00000552823.1_Silent_p.K417K|LIMA1_ENST00000552909.1_Silent_p.K416K|LIMA1_ENST00000394943.3_Silent_p.K578K|LIMA1_ENST00000552491.1_Silent_p.K274K|LIMA1_ENST00000341247.4_Silent_p.K577K|LIMA1_ENST00000552783.1_Silent_p.K418K	p.K275K	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			5	2094	-			577					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	c.825G>A	CCDS8802.1																																																																																				0.483	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		18	159	0	0	0	1	0	18	159				
DVL3	1857	broad.mit.edu	37	3	183885705	183885705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:183885705G>A	ENST00000313143.3	+	13	1598	c.1350G>A	c.(1348-1350)tgG>tgA	p.W450*	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Nonsense_Mutation_p.W433*	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	450	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.			W -> C (in Ref. 1; AAB47447). {ECO:0000305}.	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)			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)			TGGTGGACTGGCTGTACCACA	0.587																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1348-1350)tgG>tgA		dishevelled segment polarity protein 3							77.0	70.0	72.0					3																	183885705		2203	4300	6503	SO:0001587	stop_gained	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183885705G>A	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.1350G>A	3.37:g.183885705G>A	ENSP00000316054:p.Trp450*					DVL3_ENST00000431765.1_Nonsense_Mutation_p.W433*|EIF2B5_ENST00000444495.1_Intron	p.W450*	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		13	1598	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		450	W -> C (in Ref. 1; AAB47447).		DEP.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Nonsense_Mutation	SNP	ENST00000313143.3	37	c.1350G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	39	7.793336	0.98492	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1942	19.1164	0.93343	0.0:0.0:1.0:0.0	.	.	.	.	X	450;450;433	.	ENSP00000316054:W450X	W	+	3	0	DVL3	185368399	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.524000	0.85096	0.655000	0.94253	TGG		0.587	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		4	55	0	0	0	1	0	4	55				
ZBTB40	9923	broad.mit.edu	37	1	22817893	22817893	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22817893G>A	ENST00000375647.4	+	3	905	c.698G>A	c.(697-699)gGa>gAa	p.G233E	ZBTB40_ENST00000404138.1_Splice_Site_p.G233E|ZBTB40_ENST00000374651.4_Splice_Site_p.G233E	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	233					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTACATTTAGGATGTGAAAGG	0.328																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.e4-1		zinc finger and BTB domain containing 40							55.0	60.0	59.0					1																	22817893		2203	4300	6503	SO:0001630	splice_region_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22817893G>A	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.698-1G>A	1.37:g.22817893G>A						ZBTB40_ENST00000375647.4_Splice_Site_p.G233_splice|ZBTB40_ENST00000374651.4_Splice_Site_p.G233_splice	p.G233_splice	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	4	1209	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	233					O75066|Q5TFU5|Q8N1R1	Splice_Site	SNP	ENST00000375647.4	37	c.697_splice	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348690	0.24426	.	.	ENSG00000184677	ENST00000404138;ENST00000374649;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.15	1.42	0.22433	.	0.483471	0.19056	N	0.123912	T	0.34454	0.0898	N	0.00368	-1.59	0.24132	N	0.995761	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34976	-0.9807	9	.	.	.	.	1.7743	0.03018	0.5689:0.1472:0.1541:0.1297	.	233;233	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	E	233;187;233;233;233	ENSP00000384527:G233E;ENSP00000364798:G233E;ENSP00000383098:G233E;ENSP00000363782:G233E	.	G	+	2	0	ZBTB40	22690480	.	.	0.028000	0.17463	0.001000	0.01503	.	.	-0.198000	0.10333	-3.302000	0.00046	GGA		0.328	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870	Missense_Mutation	8	74	0	0	0	1	0	8	74				
PDCD11	22984	broad.mit.edu	37	10	105164795	105164795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105164795C>T	ENST00000369797.3	+	5	513	c.419C>T	c.(418-420)cCt>cTt	p.P140L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	140	S1 motif 1. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTCACTTGCCTGAACTTTTC	0.473																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(418-420)cCt>cTt		programmed cell death 11							142.0	125.0	131.0					10																	105164795		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105164795C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.419C>T	10.37:g.105164795C>T	ENSP00000358812:p.Pro140Leu						p.P140L	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	5	513	+		Colorectal(252;0.0747)|Breast(234;0.128)	140			S1 motif 1.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.419C>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466363	0.43839	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.15952	2.38	4.87	3.95	0.45737	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.235195	0.44902	D	0.000407	T	0.16811	0.0404	L	0.52364	1.645	0.51233	D	0.999918	B	0.30511	0.282	B	0.20577	0.03	T	0.02546	-1.1143	10	0.48119	T	0.1	-2.9574	14.7051	0.69183	0.0:0.8538:0.1462:0.0	.	140	Q14690	RRP5_HUMAN	L	140	ENSP00000358812:P140L	ENSP00000358812:P140L	P	+	2	0	PDCD11	105154785	0.758000	0.28405	0.998000	0.56505	0.660000	0.38997	1.769000	0.38522	1.036000	0.39998	0.462000	0.41574	CCT		0.473	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			3	46	0	0	0	1	0	3	46				
KMT2C	58508	broad.mit.edu	37	7	151945064	151945064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151945064C>T	ENST00000262189.6	-	14	2673	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	KMT2C_ENST00000355193.2_Missense_Mutation_p.V819I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	819					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTGGAGTGACTGAGATGTAA	0.418																																						ENST00000355193.2																			0											c.(2455-2457)Gtc>Atc		lysine (K)-specific methyltransferase 2C							370.0	318.0	335.0					7																	151945064		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945064C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2455G>A	7.37:g.151945064C>T	ENSP00000262189:p.Val819Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.V819I	p.V819I							14	2673	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2455G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.141395|2.141395	0.37825|0.37825	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	D|D;D	0.87334|0.83419	-2.24|-1.72;-1.72	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.41712	.|D	.|0.000825	T|T	0.76335|0.76335	0.3973|0.3973	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B	.|0.25772	.|0.134	.|B	.|0.17433	.|0.018	T|T	0.73616|0.73616	-0.3926|-0.3926	7|10	0.26408|0.56958	T|D	0.33|0.05	.|.	16.0607|16.0607	0.80836|0.80836	0.0:0.866:0.134:0.0|0.0:0.866:0.134:0.0	.|.	.|819	.|Q8NEZ4	.|MLL3_HUMAN	N|I	14|819	ENSP00000403483:S14N|ENSP00000262189:V819I;ENSP00000347325:V819I	ENSP00000403483:S14N|ENSP00000262189:V819I	S|V	-|-	2|1	0|0	MLL3|MLL3	151575997|151575997	0.903000|0.903000	0.30736|0.30736	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.774000|1.774000	0.38573|0.38573	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	AGT|GTC		0.418	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			10	476	0	0	0	1	0	10	476				
ZBBX	79740	broad.mit.edu	37	3	167000266	167000266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:167000266G>A	ENST00000392766.2	-	19	2237	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S	ZBBX_ENST00000392764.1_Missense_Mutation_p.P604S|ZBBX_ENST00000392767.2_Missense_Mutation_p.P633S|ZBBX_ENST00000307529.5_Missense_Mutation_p.P672S|ZBBX_ENST00000455345.2_Missense_Mutation_p.P672S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	633						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P672S(1)|p.P633S(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GCTGTTGAAGGTCTCTGTGAT	0.353																																						ENST00000392766.2																			2	Substitution - Missense(2)	p.P672S(1)|p.P633S(1)	skin(2)	NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1897-1899)Cct>Tct		zinc finger, B-box domain containing							114.0	110.0	112.0					3																	167000266		1815	4065	5880	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167000266G>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1897C>T	3.37:g.167000266G>A	ENSP00000376519:p.Pro633Ser					ZBBX_ENST00000307529.5_Missense_Mutation_p.P672S|ZBBX_ENST00000455345.2_Missense_Mutation_p.P672S|ZBBX_ENST00000392767.2_Missense_Mutation_p.P633S|ZBBX_ENST00000392764.1_Missense_Mutation_p.P604S	p.P633S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			19	2237	-			633					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1897C>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466586	0.26335	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.57273	0.61;0.61;1.25;1.25;0.41	4.81	3.93	0.45458	.	0.000000	0.49916	D	0.000138	T	0.64692	0.2621	L	0.55481	1.735	0.28354	N	0.920744	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.938	T	0.60265	-0.7297	10	0.66056	D	0.02	-5.7245	11.0396	0.47823	0.0:0.1885:0.8115:0.0	.	672;633	A8MT70-2;A8MT70	.;ZBBX_HUMAN	S	633;633;672;672;604	ENSP00000376519:P633S;ENSP00000376520:P633S;ENSP00000390232:P672S;ENSP00000305065:P672S;ENSP00000376517:P604S	ENSP00000305065:P672S	P	-	1	0	ZBBX	168482960	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	2.815000	0.48018	1.013000	0.39391	-0.181000	0.13052	CCT		0.353	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		33	20	0	0	0	1	0	33	20				
CCDC134	79879	broad.mit.edu	37	22	42204924	42204924	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42204924C>T	ENST00000255784.5	+	2	134	c.30C>T	c.(28-30)ctC>ctT	p.L10L	CCDC134_ENST00000402061.3_Silent_p.L10L	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	10						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TGGCCTTCCTCTTTGTCCTGC	0.483																																						ENST00000255784.5																			0				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						c.(28-30)ctC>ctT		coiled-coil domain containing 134							201.0	160.0	174.0					22																	42204924		2203	4300	6503	SO:0001819	synonymous_variant	79879					extracellular region		g.chr22:42204924C>T	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.30C>T	22.37:g.42204924C>T						CCDC134_ENST00000402061.3_Silent_p.L10L	p.L10L	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN			2	134	+			10						Silent	SNP	ENST00000255784.5	37	c.30C>T	CCDS33654.1																																																																																				0.483	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		10	44	0	0	0	1	0	10	44				
SLC45A4	57210	broad.mit.edu	37	8	142231731	142231731	+	Silent	SNP	G	G	A	rs146246063		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:142231731G>A	ENST00000024061.3	-	2	529	c.222C>T	c.(220-222)gcC>gcT	p.A74A	SLC45A4_ENST00000517878.1_Silent_p.A125A|SLC45A4_ENST00000519067.1_Silent_p.A74A|SLC45A4_ENST00000433583.2_Silent_p.A67A	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493)			CAACGCAGAGGGCGAGGATGA	0.617																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(220-222)gcC>gcT		solute carrier family 45, member 4							74.0	81.0	79.0					8																	142231731		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231731G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.222C>T	8.37:g.142231731G>A						SLC45A4_ENST00000433583.2_Silent_p.A67A|SLC45A4_ENST00000517878.1_Silent_p.A125A|SLC45A4_ENST00000024061.3_Silent_p.A74A	p.A74A			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	525	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		125					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.222C>T	CCDS34948.1																																																																																				0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		38	41	0	0	0	1	0	38	41				
ARID1A	8289	broad.mit.edu	37	1	27059220	27059220	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27059220C>T	ENST00000324856.7	+	4	2228	c.1857C>T	c.(1855-1857)acC>acT	p.T619T	ARID1A_ENST00000374152.2_Silent_p.T236T|ARID1A_ENST00000457599.2_Silent_p.T619T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	619					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCAATGACCTCCAGTAAGG	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1855-1857)acC>acT		AT rich interactive domain 1A (SWI-like)							132.0	121.0	125.0					1																	27059220		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059220C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1857C>T	1.37:g.27059220C>T						ARID1A_ENST00000374152.2_Silent_p.T236T|ARID1A_ENST00000457599.2_Silent_p.T619T	p.T619T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2228	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	619					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.1857C>T	CCDS285.1																																																																																				0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		32	58	0	0	0	1	0	32	58				
CSTF2T	23283	broad.mit.edu	37	10	53459118	53459118	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:53459118G>A	ENST00000331173.4	-	1	237	c.192C>T	c.(190-192)taC>taT	p.Y64Y	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	64	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCTGGTCTTGGTATTCGCAGA	0.522																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(190-192)taC>taT		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							113.0	121.0	118.0					10																	53459118		2203	4300	6503	SO:0001819	synonymous_variant	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53459118G>A	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.192C>T	10.37:g.53459118G>A						PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	p.Y64Y	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	237	-			64			RRM.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Silent	SNP	ENST00000331173.4	37	c.192C>T	CCDS7245.1																																																																																				0.522	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		61	90	0	0	0	1	0	61	90				
TULP4	56995	broad.mit.edu	37	6	158924623	158924623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158924623G>A	ENST00000367097.3	+	13	5285	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1310					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGTGATGGTAGAGACTGCAGA	0.587																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(3928-3930)Gag>Aag		tubby like protein 4							55.0	58.0	57.0					6																	158924623		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924623G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3928G>A	6.37:g.158924623G>A	ENSP00000356064:p.Glu1310Lys					TULP4_ENST00000367094.2_Intron	p.E1310K	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	5285	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1310					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.3928G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677335	0.68042	.	.	ENSG00000130338	ENST00000367097	T	0.70749	-0.51	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.63843	1.955	0.80722	D	1	P	0.47762	0.9	P	0.46419	0.516	T	0.72228	-0.4354	10	0.62326	D	0.03	-39.2487	16.1625	0.81731	0.0:0.1333:0.8667:0.0	.	1310	Q9NRJ4	TULP4_HUMAN	K	1310	ENSP00000356064:E1310K	ENSP00000356064:E1310K	E	+	1	0	TULP4	158844611	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	7.360000	0.79487	2.696000	0.92011	0.561000	0.74099	GAG		0.587	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		6	73	0	0	0	1	0	6	73				
LOXL4	84171	broad.mit.edu	37	10	100021874	100021874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:100021874G>A	ENST00000260702.3	-	3	524	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	125	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TACGTCTTCTGAGTGACTGCA	0.597																																						ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.(373-375)tCa>tTa		lysyl oxidase-like 4							59.0	53.0	55.0					10																	100021874		2203	4300	6503	SO:0001583	missense	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100021874G>A	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.374C>T	10.37:g.100021874G>A	ENSP00000260702:p.Ser125Leu						p.S125L	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	3	524	-		Colorectal(252;0.234)	125			SRCR 1.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	c.374C>T	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402063	0.25291	.	.	ENSG00000138131	ENST00000260702	T	0.46451	0.87	4.82	3.92	0.45320	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.660827	0.14827	N	0.296090	T	0.46073	0.1374	M	0.84683	2.71	0.09310	N	1	P	0.35174	0.488	B	0.37198	0.243	T	0.48103	-0.9064	10	0.46703	T	0.11	.	5.5174	0.16914	0.0815:0.1476:0.6362:0.1347	.	125	Q96JB6	LOXL4_HUMAN	L	125	ENSP00000260702:S125L	ENSP00000260702:S125L	S	-	2	0	LOXL4	100011864	0.051000	0.20477	0.702000	0.30337	0.001000	0.01503	0.922000	0.28734	1.035000	0.39972	-0.136000	0.14681	TCA		0.597	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		16	27	0	0	0	1	0	16	27				
CD244	51744	broad.mit.edu	37	1	160806015	160806015	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:160806015C>T	ENST00000368033.3	-	6	961	c.879G>A	c.(877-879)ggG>ggA	p.G293G	CD244_ENST00000368034.4_Silent_p.G288G|CD244_ENST00000322302.7_Silent_p.G196G|CD244_ENST00000368032.2_Silent_p.G288G|CD244_ENST00000481677.1_Intron			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	293					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGATGGTGCTCCCCCCTCCAG	0.507																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(862-864)ggG>ggA		CD244 molecule, natural killer cell receptor 2B4							113.0	99.0	104.0					1																	160806015		2203	4300	6503	SO:0001819	synonymous_variant	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160806015C>T	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.879G>A	1.37:g.160806015C>T						CD244_ENST00000481677.1_Intron|CD244_ENST00000368032.2_Silent_p.G288G|CD244_ENST00000322302.7_Silent_p.G196G|CD244_ENST00000368033.3_Silent_p.G293G	p.G288G	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	1041	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		293					Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Silent	SNP	ENST00000368033.3	37	c.864G>A	CCDS53399.1																																																																																				0.507	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		11	21	0	0	0	1	0	11	21				
STRN4	29888	broad.mit.edu	37	19	47223979	47223979	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:47223979C>T	ENST00000263280.6	-	17	2191	c.2142G>A	c.(2140-2142)gtG>gtA	p.V714V	STRN4_ENST00000539396.1_Silent_p.V595V|STRN4_ENST00000391910.3_Silent_p.V721V|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	714						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGATCTCCTGCACGCACGTTT	0.637																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2161-2163)gtG>gtA		striatin, calmodulin binding protein 4							155.0	111.0	126.0					19																	47223979		2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47223979C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2142G>A	19.37:g.47223979C>T						STRN4_ENST00000539396.1_Silent_p.V595V|STRN4_ENST00000263280.6_Silent_p.V714V	p.V721V			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	17	2613	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	714					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.2163G>A	CCDS12690.1																																																																																				0.637	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			19	20	0	0	0	1	0	19	20				
PSEN2	5664	broad.mit.edu	37	1	227079515	227079515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:227079515C>T	ENST00000366783.3	+	11	1478	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S	PSEN2_ENST00000391872.2_Missense_Mutation_p.P381S|PSEN2_ENST00000340188.4_Missense_Mutation_p.P315S|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000472139.2_Missense_Mutation_p.P204S|PSEN2_ENST00000422240.2_Missense_Mutation_p.P347S|PSEN2_ENST00000366782.1_Missense_Mutation_p.P381S	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	348					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GACTGGCTACCCAGGGGAGGA	0.582																																						ENST00000366782.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(1141-1143)Cca>Tca		presenilin 2 (Alzheimer disease 4)							75.0	74.0	74.0					1																	227079515		2203	4300	6503	SO:0001583	missense	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227079515C>T	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.1042C>T	1.37:g.227079515C>T	ENSP00000355747:p.Pro348Ser					PSEN2_ENST00000391872.2_Missense_Mutation_p.P381S|PSEN2_ENST00000422240.2_Missense_Mutation_p.P347S|PSEN2_ENST00000472139.2_Missense_Mutation_p.P204S|PSEN2_ENST00000340188.4_Missense_Mutation_p.P315S|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000366783.3_Missense_Mutation_p.P348S	p.P381S			P49810	PSN2_HUMAN			11	1641	+		Prostate(94;0.0771)	348					A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	c.1141C>T	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242038	0.58995	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99735	-6.57;-5.93;-6.55;-6.58;-6.58;-6.24	4.69	2.63	0.31362	.	0.927286	0.09141	N	0.842990	D	0.97529	0.9191	N	0.16743	0.435	0.29360	N	0.864711	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.006	D	0.98272	1.0504	10	0.07482	T	0.82	.	6.7545	0.23505	0.1911:0.5958:0.2131:0.0	.	347;348	A8K8D4;P49810	.;PSN2_HUMAN	S	348;315;347;381;381;204	ENSP00000355747:P348S;ENSP00000339860:P315S;ENSP00000403737:P347S;ENSP00000355746:P381S;ENSP00000375745:P381S;ENSP00000427806:P204S	ENSP00000339860:P315S	P	+	1	0	PSEN2	225146138	0.662000	0.27439	0.954000	0.39281	0.968000	0.65278	0.852000	0.27764	1.138000	0.42230	0.563000	0.77884	CCA		0.582	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		4	26	0	0	0	1	0	4	26				
SYT15	83849	broad.mit.edu	37	10	46963952	46963952	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:46963952C>T	ENST00000374321.4	-	7	1077	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	SYT15_ENST00000503753.1_Silent_p.V337V|SYT15_ENST00000374325.3_Silent_p.V337V|SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374323.4_Silent_p.V390V|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	337	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGGAGCCCAGCACAGCTGAAG	0.527																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1168-1170)gtG>gtA		synaptotagmin XV							102.0	104.0	104.0					10																	46963952		2076	4215	6291	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46963952C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1011G>A	10.37:g.46963952C>T						SYT15_ENST00000503753.1_Silent_p.V337V|SYT15_ENST00000374325.3_Silent_p.V337V|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Silent_p.V337V	p.V390V			Q9BQS2	SYT15_HUMAN			6	1757	-			337					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.1170G>A	CCDS44376.1																																																																																				0.527	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		6	57	0	0	0	1	0	6	57				
CRB2	286204	broad.mit.edu	37	9	126129460	126129460	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:126129460G>A	ENST00000373631.3	+	5	765	c.764G>A	c.(763-765)gGc>gAc	p.G255D	CRB2_ENST00000373629.2_5'Flank|CRB2_ENST00000359999.3_Missense_Mutation_p.G255D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	255	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGCTACAGCGGCGAGCTGTGC	0.677																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(763-765)gGc>gAc		crumbs homolog 2 (Drosophila)							49.0	59.0	56.0					9																	126129460		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126129460G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.764G>A	9.37:g.126129460G>A	ENSP00000362734:p.Gly255Asp					CRB2_ENST00000359999.3_Missense_Mutation_p.G255D	p.G255D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			5	765	+			255			EGF-like 5.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.764G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138981	0.77775	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.98150	-4.75;-4.75	5.1	5.1	0.69264	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.46442	D	0.000296	D	0.98623	0.9539	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.97110	1.0;0.836	D	0.99795	1.1033	10	0.87932	D	0	.	16.0053	0.80359	0.0:0.0:1.0:0.0	.	255;255	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	D	255	ENSP00000353092:G255D;ENSP00000362734:G255D	ENSP00000353092:G255D	G	+	2	0	CRB2	125169281	1.000000	0.71417	0.940000	0.37924	0.320000	0.28249	7.380000	0.79704	2.373000	0.80994	0.643000	0.83706	GGC		0.677	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		8	105	0	0	0	1	0	8	105				
INTS6	26512	broad.mit.edu	37	13	51948542	51948542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:51948542C>T	ENST00000311234.4	-	15	2378	c.1906G>A	c.(1906-1908)Gct>Act	p.A636T	INTS6_ENST00000425000.1_Missense_Mutation_p.A204T|INTS6_ENST00000398119.2_Missense_Mutation_p.A623T|INTS6_ENST00000490542.1_Missense_Mutation_p.A320T|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.A458T	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	636					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TGAGGTCCAGCCACAAATTCA	0.393																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1906-1908)Gct>Act		integrator complex subunit 6							112.0	115.0	114.0					13																	51948542		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51948542C>T	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1906G>A	13.37:g.51948542C>T	ENSP00000310260:p.Ala636Thr					INTS6_ENST00000425000.1_Missense_Mutation_p.A204T|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Missense_Mutation_p.A623T|INTS6_ENST00000497989.1_Missense_Mutation_p.A458T|INTS6_ENST00000490542.1_Missense_Mutation_p.A320T	p.A636T	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	15	2378	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	636					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.1906G>A	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666680	0.29604	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.18	4.2	0.49525	.	0.101299	0.64402	D	0.000002	T	0.17450	0.0419	N	0.20483	0.58	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06917	-1.0800	10	0.14252	T	0.57	-13.5538	10.5331	0.44988	0.3706:0.6294:0.0:0.0	.	636	Q9UL03	INT6_HUMAN	T	636;623;458;204;320	ENSP00000310260:A636T;ENSP00000381187:A623T;ENSP00000419871:A458T;ENSP00000406915:A204T;ENSP00000419984:A320T	ENSP00000310260:A636T	A	-	1	0	INTS6	50846543	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	2.775000	0.47702	2.555000	0.86185	0.591000	0.81541	GCT		0.393	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		32	35	0	0	0	1	0	32	35				
FOXM1	2305	broad.mit.edu	37	12	2968032	2968032	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:2968032G>A	ENST00000359843.3	-	9	2132	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	Y_RNA_ENST00000410561.1_RNA|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.P673P|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000342628.2_Silent_p.P726P	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	688					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGTTGCCAAAGGGGACGGAGA	0.572																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(2176-2178)ccC>ccT		forkhead box M1							58.0	62.0	60.0					12																	2968032		2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968032G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2064C>T	12.37:g.2968032G>A						FOXM1_ENST00000359843.3_Silent_p.P688P|FOXM1_ENST00000361953.3_Silent_p.P673P|ITFG2_ENST00000545509.1_Intron	p.P726P	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2291	-			688					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.2178C>T	CCDS8515.1																																																																																				0.572	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		14	68	0	0	0	1	0	14	68				
NRG1	3084	broad.mit.edu	37	8	32621582	32621582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:32621582C>T	ENST00000405005.3	+	12	1585	c.1585C>T	c.(1585-1587)Caa>Taa	p.Q529*	NRG1_ENST00000356819.4_Nonsense_Mutation_p.Q534*|NRG1_ENST00000519301.1_Nonsense_Mutation_p.Q479*|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Nonsense_Mutation_p.Q526*|NRG1_ENST00000287845.5_Nonsense_Mutation_p.Q500*|NRG1_ENST00000539990.1_Nonsense_Mutation_p.Q372*|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000338921.4_Nonsense_Mutation_p.Q537*			Q02297	NRG1_HUMAN	neuregulin 1	529					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGAAACGACCCAAGAGTACGA	0.542																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1609-1611)Caa>Taa		neuregulin 1							62.0	56.0	58.0					8																	32621582		2203	4300	6503	SO:0001587	stop_gained	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621582C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1585C>T	8.37:g.32621582C>T	ENSP00000384620:p.Gln529*					NRG1_ENST00000539990.1_Nonsense_Mutation_p.Q372*|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Nonsense_Mutation_p.Q529*|NRG1_ENST00000356819.4_Nonsense_Mutation_p.Q534*|NRG1_ENST00000405005.2_Nonsense_Mutation_p.Q529*|NRG1_ENST00000287842.3_Nonsense_Mutation_p.Q526*|NRG1_ENST00000519301.1_Nonsense_Mutation_p.Q479*|NRG1_ENST00000287845.5_Nonsense_Mutation_p.Q500*	p.Q537*			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	2126	+		Breast(100;0.203)	529					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Nonsense_Mutation	SNP	ENST00000405005.3	37	c.1609C>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	39	7.623184	0.98396	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	.	.	.	5.75	5.75	0.90469	.	0.138669	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3661	19.9364	0.97143	0.0:1.0:0.0:0.0	.	.	.	.	X	479;602;537;534;529;500;526;529;372	.	.	Q	+	1	0	NRG1	32741124	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.603000	0.67619	2.724000	0.93272	0.455000	0.32223	CAA		0.542	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			21	20	0	0	0	1	0	21	20				
MUSK	4593	broad.mit.edu	37	9	113459691	113459691	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:113459691G>A	ENST00000374448.4	+	5	707	c.573G>A	c.(571-573)gtG>gtA	p.V191V	MUSK_ENST00000374439.1_Silent_p.V73V|MUSK_ENST00000416899.2_Silent_p.V191V|MUSK_ENST00000374440.3_Silent_p.V73V|MUSK_ENST00000189978.5_Silent_p.V191V	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	191	Ig-like 2.				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)			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						ATCGATGTGTGGCAAAAAACA	0.488																																						ENST00000416899.2																			0				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						c.(571-573)gtG>gtA		muscle, skeletal, receptor tyrosine kinase							139.0	140.0	140.0					9																	113459691		1951	4152	6103	SO:0001819	synonymous_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113459691G>A	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.573G>A	9.37:g.113459691G>A						MUSK_ENST00000374440.3_Silent_p.V73V|MUSK_ENST00000189978.5_Silent_p.V191V|MUSK_ENST00000374448.4_Silent_p.V191V|MUSK_ENST00000374439.1_Silent_p.V73V	p.V191V			O15146	MUSK_HUMAN			5	699	+			191			Ig-like 2.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	c.573G>A	CCDS48005.1																																																																																				0.488	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				11	79	0	0	0	1	0	11	79				
DSCAM	1826	broad.mit.edu	37	21	41719806	41719806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:41719806G>A	ENST00000400454.1	-	6	1478	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	334	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACGCTGCAGGACAAGGAAAC	0.493																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1000-1002)tCc>tTc		Down syndrome cell adhesion molecule							119.0	108.0	111.0					21																	41719806		1951	4160	6111	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719806G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1001C>T	21.37:g.41719806G>A	ENSP00000383303:p.Ser334Phe						p.S334F	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			6	1478	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	334			Ig-like C2-type 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1001C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825138	0.50739	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68624	-0.34;-0.34	5.58	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057131	0.64402	N	0.000001	T	0.61123	0.2322	L	0.45698	1.435	0.44985	D	0.998005	B	0.15141	0.012	B	0.15052	0.012	T	0.59069	-0.7523	10	0.54805	T	0.06	.	14.5561	0.68101	0.0707:0.0:0.9293:0.0	.	334	O60469	DSCAM_HUMAN	F	334;86	ENSP00000383303:S334F;ENSP00000385342:S86F	ENSP00000383303:S334F	S	-	2	0	DSCAM	40641676	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.860000	0.86993	1.349000	0.45751	0.655000	0.94253	TCC		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		61	132	0	0	0	1	0	61	132				
LRRC14	9684	broad.mit.edu	37	8	145741860	145741860	+	5'Flank	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145741860C>T	ENST00000292524.1	+	0	0				LRRC14_ENST00000529022.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.E215K|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGTGATTCCTCTGAGCCTAGA	0.602																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(643-645)Gag>Aag	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							16.0	17.0	17.0					8																	145741860		1919	4120	6039	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145741860C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741860C>T	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.E215K	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	684	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		215					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.643G>A	CCDS6432.1																																																																																				0.602	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		6	15	0	0	0	1	0	6	15				
LIMA1	51474	broad.mit.edu	37	12	50594611	50594611	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:50594611C>T	ENST00000341247.4	-	7	1070	c.921G>A	c.(919-921)gaG>gaA	p.E307E	LIMA1_ENST00000547825.1_Silent_p.E5E|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552909.1_Silent_p.E147E|LIMA1_ENST00000552823.1_Silent_p.E147E|LIMA1_ENST00000552491.1_Silent_p.E5E|LIMA1_ENST00000394943.3_Silent_p.E307E|LIMA1_ENST00000552783.1_Silent_p.E147E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	307					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGGGCACATTCTCCTTTTGCT	0.408																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(13-15)gaG>gaA		LIM domain and actin binding 1							276.0	272.0	274.0					12																	50594611		2203	4300	6503	SO:0001819	synonymous_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50594611C>T	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.921G>A	12.37:g.50594611C>T						LIMA1_ENST00000552823.1_Silent_p.E147E|LIMA1_ENST00000552909.1_Silent_p.E147E|LIMA1_ENST00000394943.3_Silent_p.E307E|LIMA1_ENST00000552491.1_Silent_p.E5E|LIMA1_ENST00000341247.4_Silent_p.E307E|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552783.1_Silent_p.E147E	p.E5E	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			1	1284	-			307					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	c.15G>A	CCDS8802.1																																																																																				0.408	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		95	153	0	0	0	1	0	95	153				
ENOX2	10495	broad.mit.edu	37	X	129804055	129804055	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:129804055G>A	ENST00000370927.1	-	5	686	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ENOX2_ENST00000394363.1_Missense_Mutation_p.A193V|ENOX2_ENST00000338144.3_Missense_Mutation_p.A222V|ENOX2_ENST00000370935.1_Missense_Mutation_p.A193V			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	222					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CTCCTCTCTGGCTAGCATACG	0.502																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(664-666)gCc>gTc		ecto-NOX disulfide-thiol exchanger 2							202.0	151.0	168.0					X																	129804055		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129804055G>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.665C>T	X.37:g.129804055G>A	ENSP00000359965:p.Ala222Val					ENOX2_ENST00000370935.1_Missense_Mutation_p.A193V|ENOX2_ENST00000394363.1_Missense_Mutation_p.A193V|ENOX2_ENST00000370927.1_Missense_Mutation_p.A222V	p.A222V	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			8	1082	-			222					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.665C>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272954	0.95429	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.64830	0.994;0.994	D;D	0.63703	0.917;0.917	T	0.72887	-0.4156	8	.	.	.	-15.9542	14.9352	0.70948	0.0:0.0:1.0:0.0	.	222;250	Q16206;A4QPE1	ENOX2_HUMAN;.	V	193;193;222;193;250;222;193	.	.	A	-	2	0	ENOX2	129631736	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	9.165000	0.94761	2.407000	0.81776	0.600000	0.82982	GCC		0.502	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		23	57	0	0	0	1	0	23	57				
GALNT5	11227	broad.mit.edu	37	2	158156073	158156073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:158156073G>A	ENST00000259056.4	+	6	2496	c.2011G>A	c.(2011-2013)Gct>Act	p.A671T	RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	671	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCCTGTCATGGCTGGTGGATT	0.408																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(2011-2013)Gct>Act		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							87.0	82.0	83.0					2																	158156073		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158156073G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2011G>A	2.37:g.158156073G>A	ENSP00000259056:p.Ala671Thr						p.A671T	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			6	2496	+			671			Catalytic subdomain B.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2011G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670953	0.96754	.	.	ENSG00000136542	ENST00000259056	T	0.58506	0.33	5.85	5.85	0.93711	Glycosyl transferase, family 2 (1);	0.107339	0.64402	D	0.000008	T	0.82250	0.4996	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.85354	0.1103	10	0.87932	D	0	.	19.7726	0.96373	0.0:0.0:1.0:0.0	.	671	Q7Z7M9	GALT5_HUMAN	T	671	ENSP00000259056:A671T	ENSP00000259056:A671T	A	+	1	0	GALNT5	157864319	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.771000	0.95319	0.561000	0.74099	GCT		0.408	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		4	69	0	0	0	1	0	4	69				
TRMT1	55621	broad.mit.edu	37	19	13226149	13226149	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:13226149C>T	ENST00000592062.1	-	6	1155	c.585G>A	c.(583-585)cgG>cgA	p.R195R	TRMT1_ENST00000221504.8_Silent_p.R195R|TRMT1_ENST00000357720.4_Silent_p.R195R|TRMT1_ENST00000592892.1_5'Flank|TRMT1_ENST00000437766.1_Silent_p.R195R			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	195	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCTGGACATTCCGGCGTATGA	0.592																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(583-585)cgG>cgA		tRNA methyltransferase 1 homolog (S. cerevisiae)							81.0	70.0	74.0					19																	13226149		2203	4300	6503	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13226149C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.585G>A	19.37:g.13226149C>T						TRMT1_ENST00000221504.8_Silent_p.R195R|TRMT1_ENST00000357720.4_Silent_p.R195R|TRMT1_ENST00000437766.1_Silent_p.R195R	p.R195R			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	6	1155	-			195					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.585G>A	CCDS12293.1																																																																																				0.592	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		3	46	0	0	0	1	0	3	46				
UCN3	114131	broad.mit.edu	37	10	5416007	5416007	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:5416007C>T	ENST00000380433.3	+	2	552	c.324C>T	c.(322-324)cgC>cgT	p.R108R		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	108					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						GAAAGCCACGCCAGGACACGG	0.597																																						ENST00000380433.3																			0				endometrium(1)|large_intestine(1)	2						c.(322-324)cgC>cgT		urocortin 3							72.0	72.0	72.0					10																	5416007		2203	4300	6503	SO:0001819	synonymous_variant	114131					extracellular region	hormone activity	g.chr10:5416007C>T	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"""Endogenous ligands"""	17781	protein-coding gene	gene with protein product	"""stresscopin"", ""prepro-urocortin 3"""	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.324C>T	10.37:g.5416007C>T							p.R108R	NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN			2	552	+			108					Q496H2|Q5SR91	Silent	SNP	ENST00000380433.3	37	c.324C>T	CCDS7065.1																																																																																				0.597	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		3	39	0	0	0	1	0	3	39				
NDST3	9348	broad.mit.edu	37	4	119154236	119154236	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:119154236C>T	ENST00000296499.5	+	9	2292	c.1889C>T	c.(1888-1890)aCc>aTc	p.T630I	NDST3_ENST00000433996.2_Missense_Mutation_p.T549I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	630	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGCCCAAAAACCTTTGAGGAG	0.373																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1888-1890)aCc>aTc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							139.0	138.0	139.0					4																	119154236		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119154236C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1889C>T	4.37:g.119154236C>T	ENSP00000296499:p.Thr630Ile					NDST3_ENST00000433996.2_Missense_Mutation_p.T549I	p.T630I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			9	2292	+			630			Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1889C>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802594	0.90623	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	D;T	0.82984	-1.67;0.56	5.64	5.64	0.86602	Sulfotransferase domain (1);	0.053230	0.64402	D	0.000001	D	0.92570	0.7640	M	0.87456	2.885	0.44547	D	0.9975	P;D	0.61697	0.822;0.99	P;D	0.72625	0.46;0.978	D	0.93260	0.6642	10	0.87932	D	0	.	19.7051	0.96069	0.0:1.0:0.0:0.0	.	549;630	B4DI67;O95803	.;NDST3_HUMAN	I	630;549	ENSP00000296499:T630I;ENSP00000396625:T549I	ENSP00000296499:T630I	T	+	2	0	NDST3	119373684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.694000	0.84235	2.645000	0.89757	0.637000	0.83480	ACC		0.373	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		6	120	0	0	0	1	0	6	120				
NAT10	55226	broad.mit.edu	37	11	34135329	34135329	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:34135329G>A	ENST00000257829.3	+	5	645	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	NAT10_ENST00000531159.2_Missense_Mutation_p.V75M|NAT10_ENST00000527971.1_Missense_Mutation_p.V147M	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	147						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGGTGGGCTAGTGGTCATCCT	0.453																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(439-441)Gtg>Atg		N-acetyltransferase 10 (GCN5-related)							142.0	126.0	131.0					11																	34135329		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34135329G>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.439G>A	11.37:g.34135329G>A	ENSP00000257829:p.Val147Met					NAT10_ENST00000531159.2_Missense_Mutation_p.V75M|NAT10_ENST00000527971.1_Missense_Mutation_p.V147M	p.V147M	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			5	645	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	147					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.439G>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431217	0.83776	.	.	ENSG00000135372	ENST00000257829;ENST00000531159;ENST00000527971	T;T	0.40476	1.04;1.03	5.92	4.83	0.62350	Domain of unknown function DUF1726 (1);	0.117279	0.64402	D	0.000020	T	0.73768	0.3629	H	0.95679	3.705	0.58432	D	0.999996	D	0.52996	0.957	D	0.66847	0.947	T	0.81593	-0.0862	10	0.87932	D	0	-26.0683	15.9916	0.80208	0.0742:0.0:0.9258:0.0	.	147	Q9H0A0	NAT10_HUMAN	M	147;75;147	ENSP00000257829:V147M;ENSP00000433011:V75M	ENSP00000257829:V147M	V	+	1	0	NAT10	34091905	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.595000	0.61048	2.822000	0.97130	0.650000	0.86243	GTG		0.453	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		25	145	0	0	0	1	0	25	145				
KIAA1109	84162	broad.mit.edu	37	4	123109080	123109080	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:123109080C>T	ENST00000264501.4	+	9	1031	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P220S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P220S			Q2LD37	K1109_HUMAN	KIAA1109	220					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCACTACCAGCCGCAAACTCT	0.343																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(658-660)Ccg>Tcg		KIAA1109							111.0	98.0	102.0					4																	123109080		1846	4074	5920	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123109080C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.658C>T	4.37:g.123109080C>T	ENSP00000264501:p.Pro220Ser					KIAA1109_ENST00000455637.1_Missense_Mutation_p.P220S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P220S	p.P220S			Q2LD37	K1109_HUMAN			9	1031	+			220					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.658C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.188302|4.188302	0.78789|0.78789	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|D;D;D	.|0.94497	.|-3.44;-3.44;-3.44	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.129984	.|0.29699	.|N	.|0.011428	D|D	0.96747|0.96747	0.8938|0.8938	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.96973|0.96973	0.9710|0.9710	5|10	.|0.72032	.|D	.|0.01	.|.	19.5959|19.5959	0.95538|0.95538	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|220	.|Q2LD37	.|K1109_HUMAN	V|S	52|220	.|ENSP00000264501:P220S;ENSP00000373390:P220S;ENSP00000389925:P220S	.|ENSP00000264501:P220S	A|P	+|+	2|1	0|0	KIAA1109|KIAA1109	123328530|123328530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.424000|0.424000	0.31475|0.31475	7.731000|7.731000	0.84895|0.84895	2.631000|2.631000	0.89168|0.89168	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.343	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		16	86	0	0	0	1	0	16	86				
ZNF433	163059	broad.mit.edu	37	19	12125683	12125683	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12125683C>T	ENST00000344980.6	-	4	2169	c.1999G>A	c.(1999-2001)Gct>Act	p.A667T	ZNF433_ENST00000419886.2_Missense_Mutation_p.A632T|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	667					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ATGCAGTGAGCCCTTCCATGC	0.498																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1894-1896)Gct>Act		zinc finger protein 433							48.0	51.0	50.0					19																	12125683		2147	4256	6403	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12125683C>T	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1999G>A	19.37:g.12125683C>T	ENSP00000339767:p.Ala667Thr					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.A667T|CTD-2006C1.2_ENST00000406892.2_RNA	p.A632T			Q8N7K0	ZN433_HUMAN			5	2185	-			667					Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.1894G>A	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	4.713	0.132539	0.09032	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.05996	3.36;3.47	1.23	-1.85	0.07784	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01765	0.0056	N	0.00894	-1.105	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46148	-0.9212	9	0.25751	T	0.34	.	4.5968	0.12334	0.0:0.5455:0.0:0.4545	.	667	Q8N7K0	ZN433_HUMAN	T	632;667	ENSP00000393416:A632T;ENSP00000339767:A667T	ENSP00000339767:A667T	A	-	1	0	ZNF433	11986683	0.001000	0.12720	0.000000	0.03702	0.235000	0.25334	0.490000	0.22403	-0.553000	0.06158	-0.752000	0.03492	GCT		0.498	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		3	26	0	0	0	1	0	3	26				
PRM1	5619	broad.mit.edu	37	16	11375045	11375045	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:11375045G>A	ENST00000312511.3	-	1	162	c.51C>T	c.(49-51)cgC>cgT	p.R17R	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	17					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)	DNA binding (GO:0003677)	p.0?(1)		large_intestine(2)|skin(2)	4						TTTGTCTCTGGCGGTAATATC	0.622																																						ENST00000312511.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|skin(2)	4						c.(49-51)cgC>cgT		protamine 1							110.0	101.0	104.0					16																	11375045		2197	4300	6497	SO:0001819	synonymous_variant	5619				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11375045G>A		CCDS10547.1	16p13.2	2009-08-06			ENSG00000175646	ENSG00000175646			9447	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 1"""	182880					Standard	NM_002761		Approved	CT94.1	uc002dav.3	P04553	OTTHUMG00000090521	ENST00000312511.3:c.51C>T	16.37:g.11375045G>A						RMI2_ENST00000572173.1_Intron	p.R17R	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN			1	162	-			17						Silent	SNP	ENST00000312511.3	37	c.51C>T	CCDS10547.1																																																																																				0.622	PRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207010.1			44	90	0	0	0	1	0	44	90				
LRRC14	9684	broad.mit.edu	37	8	145742862	145742862	+	5'Flank	SNP	C	C	T	rs551963857		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145742862C>T	ENST00000292524.1	+	0	0				LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Missense_Mutation_p.R50H|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCCGTGGTACGCTTCAGAGT	0.756													C|||	1	0.000199681	0.0008	0.0	5008	,	,		9352	0.0		0.0	False		,,,				2504	0.0					ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(148-150)cGt>cAt	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							6.0	7.0	7.0					8																	145742862		1606	3772	5378	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145742862C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742862C>T	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.R50H	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	190	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		50					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.149G>A	CCDS6432.1																																																																																				0.756	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		3	8	0	0	0	1	0	3	8				
PTPRU	10076	broad.mit.edu	37	1	29602244	29602244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:29602244G>A	ENST00000345512.3	+	8	1558	c.1429G>A	c.(1429-1431)Gtc>Atc	p.V477I	PTPRU_ENST00000460170.2_Missense_Mutation_p.V477I|PTPRU_ENST00000356870.3_Missense_Mutation_p.V477I|PTPRU_ENST00000428026.2_Missense_Mutation_p.V477I|PTPRU_ENST00000373779.3_Missense_Mutation_p.V477I|PTPRU_ENST00000323874.8_Missense_Mutation_p.V477I	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	477	Fibronectin type-III 2. {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)			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)		GGGCAAGGAGGTCACTTTCCA	0.547																																						ENST00000373779.3																			0				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						c.(1429-1431)Gtc>Atc		protein tyrosine phosphatase, receptor type, U							86.0	70.0	75.0					1																	29602244		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29602244G>A	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.1429G>A	1.37:g.29602244G>A	ENSP00000334941:p.Val477Ile					PTPRU_ENST00000323874.8_Missense_Mutation_p.V477I|PTPRU_ENST00000345512.3_Missense_Mutation_p.V477I|PTPRU_ENST00000428026.2_Missense_Mutation_p.V477I|PTPRU_ENST00000460170.2_Missense_Mutation_p.V477I|PTPRU_ENST00000356870.3_Missense_Mutation_p.V477I	p.V477I	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		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)	8	1558	+		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)	477			Fibronectin type-III 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1429G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611619	0.66558	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.4	3.38	0.38709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.42743	0.1216	L	0.34521	1.04	0.44880	D	0.997898	P;P;P;P;P	0.45176	0.852;0.852;0.852;0.77;0.77	B;B;B;B;B	0.43728	0.429;0.429;0.429;0.247;0.247	T	0.25641	-1.0126	9	.	.	.	.	11.4096	0.49919	0.0:0.1363:0.7223:0.1414	.	477;477;477;477;477	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	I	477	ENSP00000334941:V477I;ENSP00000362884:V477I;ENSP00000349333:V477I;ENSP00000314987:V477I;ENSP00000392332:V477I;ENSP00000432906:V477I	.	V	+	1	0	PTPRU	29474831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.294000	0.51787	1.393000	0.46605	0.643000	0.83706	GTC		0.547	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			3	21	0	0	0	1	0	3	21				
RP11-337C18.8	0	broad.mit.edu	37	1	146650026	146650026	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:146650026G>A	ENST00000607149.1	+	0	350				RP11-337C18.9_ENST00000606152.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							TGGTGAAGAAGCAGGTGCTTA	0.473																																						ENST00000607149.1																			0																																																			0							g.chr1:146650026G>A																													1.37:g.146650026G>A														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.473	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			10	89	0	0	0	1	0	10	89				
LRP1	4035	broad.mit.edu	37	12	57566985	57566985	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57566985G>A	ENST00000243077.3	+	21	3664	c.3198G>A	c.(3196-3198)gaG>gaA	p.E1066E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1066	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACTGATGAGTTCCAGTGCC	0.647											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(3196-3198)gaG>gaA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						64.0	58.0	60.0					12																	57566985		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57566985G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3198G>A	12.37:g.57566985G>A			OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024		p.E1066E	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	21	3664	+			1066			LDL-receptor class A 8.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.3198G>A	CCDS8932.1																																																																																				0.647	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	52	0	0	0	1	0	4	52				
ETV3L	440695	broad.mit.edu	37	1	157062643	157062643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:157062643C>T	ENST00000454449.2	-	5	1168	c.884G>A	c.(883-885)gGt>gAt	p.G295D		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	295					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CTCACCCGCACCCTGTCCCAG	0.632																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(883-885)gGt>gAt		ets variant 3-like							36.0	38.0	37.0					1																	157062643		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062643C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.884G>A	1.37:g.157062643C>T	ENSP00000430271:p.Gly295Asp						p.G295D	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			5	1168	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	295						Missense_Mutation	SNP	ENST00000454449.2	37	c.884G>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288391	0.40494	.	.	ENSG00000253831	ENST00000454449	T	0.33865	1.39	4.28	1.32	0.21799	.	.	.	.	.	T	0.10551	0.0258	L	0.29908	0.895	0.09310	N	1	B	0.18610	0.029	B	0.17722	0.019	T	0.33523	-0.9865	9	0.66056	D	0.02	.	7.6153	0.28154	0.0:0.7152:0.0:0.2848	.	295	Q6ZN32	ETV3L_HUMAN	D	295	ENSP00000430271:G295D	ENSP00000430271:G295D	G	-	2	0	ETV3L	155329267	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.465000	0.22004	0.092000	0.17331	-0.258000	0.10820	GGT		0.632	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		5	33	0	0	0	1	0	5	33				
INTS7	25896	broad.mit.edu	37	1	212150061	212150061	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:212150061C>T	ENST00000366994.3	-	12	1575	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	INTS7_ENST00000440600.2_Splice_Site_p.V442M|INTS7_ENST00000366993.3_Splice_Site_p.V491M|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Splice_Site_p.V491M	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	491					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GCCAAACTCACCTAACATTGG	0.398																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.e12-1		integrator complex subunit 7							118.0	111.0	113.0					1																	212150061		2203	4300	6503	SO:0001630	splice_region_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212150061C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1471-1G>A	1.37:g.212150061C>T						INTS7_ENST00000366992.3_Splice_Site_p.V491_splice|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Splice_Site_p.V491_splice|INTS7_ENST00000440600.2_Splice_Site_p.V442_splice	p.V491_splice	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	12	1575	-			491					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Splice_Site	SNP	ENST00000366994.3	37	c.1470_splice	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489817	0.64074	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.66995	-0.24;-0.24;-0.24;1.83	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.052891	0.85682	D	0.000000	T	0.80037	0.4550	L	0.55481	1.735	0.80722	D	1	P;P;D;P	0.76494	0.655;0.655;0.999;0.655	P;P;D;P	0.83275	0.558;0.558;0.996;0.558	T	0.78575	-0.2151	10	0.49607	T	0.09	-23.3349	19.9596	0.97236	0.0:1.0:0.0:0.0	.	442;491;491;491	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	M	491;491;491;442	ENSP00000355961:V491M;ENSP00000355960:V491M;ENSP00000355959:V491M;ENSP00000388908:V442M	ENSP00000355959:V491M	V	-	1	0	INTS7	210216684	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.477000	0.81069	2.726000	0.93360	0.655000	0.94253	GTG		0.398	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	Missense_Mutation	37	19	0	0	0	1	0	37	19				
SYNJ2	8871	broad.mit.edu	37	6	158507893	158507893	+	Missense_Mutation	SNP	C	C	T	rs200417174	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158507893C>T	ENST00000355585.4	+	23	3290	c.3215C>T	c.(3214-3216)gCg>gTg	p.A1072V	SYNJ2_ENST00000367112.1_Missense_Mutation_p.A157V|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Missense_Mutation_p.A1072V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1072					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCAGATGACGCGGACCTGGTG	0.647													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16201	0.0		0.0	False		,,,				2504	0.001					ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3214-3216)gCg>gTg		synaptojanin 2							44.0	45.0	44.0					6																	158507893		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158507893C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3215C>T	6.37:g.158507893C>T	ENSP00000347792:p.Ala1072Val					SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Missense_Mutation_p.A157V|SYNJ2_ENST00000367121.3_Missense_Mutation_p.A1072V	p.A1072V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	23	3290	+			1072					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3215C>T	CCDS5254.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.80	3.894825	0.72639	.	.	ENSG00000078269	ENST00000367121;ENST00000355585;ENST00000367112	D;D;T	0.94376	-3.41;-3.26;0.7	5.02	5.02	0.67125	.	0.282808	0.25222	N	0.032236	D	0.85155	0.5632	L	0.29908	0.895	0.80722	D	1	D;D	0.58620	0.983;0.972	B;P	0.45099	0.403;0.469	T	0.77456	-0.2581	10	0.23891	T	0.37	.	18.3485	0.90329	0.0:1.0:0.0:0.0	.	1072;1072	O15056;O15056-3	SYNJ2_HUMAN;.	V	1072;1072;157	ENSP00000356088:A1072V;ENSP00000347792:A1072V;ENSP00000356079:A157V	ENSP00000347792:A1072V	A	+	2	0	SYNJ2	158427881	0.262000	0.24073	0.653000	0.29593	0.785000	0.44390	3.698000	0.54771	-1.059000	0.03193	-0.838000	0.03060	GCG		0.647	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			11	30	0	0	0	1	0	11	30				
HHAT	55733	broad.mit.edu	37	1	210577993	210577993	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:210577993C>T	ENST00000367010.1	+	6	881	c.654C>T	c.(652-654)ccC>ccT	p.P218P	HHAT_ENST00000308852.6_Silent_p.P173P|HHAT_ENST00000545781.1_Silent_p.P155P|HHAT_ENST00000391905.3_Silent_p.P218P|HHAT_ENST00000545154.1_Silent_p.P219P|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Silent_p.P218P|HHAT_ENST00000537898.1_Silent_p.P153P|HHAT_ENST00000261458.3_Silent_p.P218P	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	218					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ACAATGGGCCCATCCTCAGCT	0.527																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(652-654)ccC>ccT		hedgehog acyltransferase							70.0	66.0	67.0					1																	210577993		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210577993C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.654C>T	1.37:g.210577993C>T						HHAT_ENST00000391905.3_Silent_p.P218P|HHAT_ENST00000413764.2_Silent_p.P218P|HHAT_ENST00000308852.6_Silent_p.P173P|HHAT_ENST00000545781.1_Silent_p.P155P|HHAT_ENST00000537898.1_Silent_p.P153P|HHAT_ENST00000261458.3_Silent_p.P218P|HHAT_ENST00000545154.1_Silent_p.P219P|HHAT_ENST00000541565.1_Intron	p.P218P	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	6	881	+			218					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.654C>T	CCDS1495.1																																																																																				0.527	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		33	46	0	0	0	1	0	33	46				
GPR83	10888	broad.mit.edu	37	11	94126715	94126715	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:94126715T>A	ENST00000243673.2	-	3	754	c.583A>T	c.(583-585)Acc>Tcc	p.T195S	GPR83_ENST00000539203.2_Missense_Mutation_p.T153S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	195					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTAGCCATGGTCCAGATGACA	0.463																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(583-585)Acc>Tcc		G protein-coupled receptor 83							184.0	162.0	170.0					11																	94126715		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94126715T>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.583A>T	11.37:g.94126715T>A	ENSP00000243673:p.Thr195Ser					GPR83_ENST00000539203.2_Missense_Mutation_p.T153S	p.T195S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			3	754	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	195					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.583A>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222455	0.39300	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.37411	1.2;1.2	5.63	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.430896	0.26688	N	0.023011	T	0.18173	0.0436	N	0.10645	0.015	0.24190	N	0.995557	B	0.09022	0.002	B	0.18263	0.021	T	0.17349	-1.0372	10	0.38643	T	0.18	.	8.2377	0.31636	0.0:0.2864:0.0:0.7136	.	195	Q9NYM4	GPR83_HUMAN	S	195;153	ENSP00000243673:T195S;ENSP00000441550:T153S	ENSP00000243673:T195S	T	-	1	0	GPR83	93766363	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.243000	0.32767	0.334000	0.23590	0.459000	0.35465	ACC		0.463	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		26	36	0	0	0	1	0	26	36				
LMAN1L	79748	broad.mit.edu	37	15	75113065	75113065	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75113065G>A	ENST00000309664.5	+	8	1003	c.864G>A	c.(862-864)agG>agA	p.R288R	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.R276R	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	288						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGCACCAGGGAGGATGTAA	0.622																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(862-864)agG>agA		lectin, mannose-binding, 1 like							77.0	77.0	77.0					15																	75113065		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75113065G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.864G>A	15.37:g.75113065G>A						LMAN1L_ENST00000379709.3_Silent_p.R276R	p.R288R	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			8	1003	+			288					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.864G>A	CCDS10270.1																																																																																				0.622	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			34	52	0	0	0	1	0	34	52				
NOL11	25926	broad.mit.edu	37	17	65734416	65734416	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:65734416G>A	ENST00000253247.4	+	14	1823	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	SNORA38B_ENST00000363524.1_RNA|NOL11_ENST00000535137.1_Missense_Mutation_p.D388N	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	570					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGCCCCAGGACGAAACAAA	0.383																																						ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(1708-1710)Gac>Aac		nucleolar protein 11							64.0	70.0	68.0					17																	65734416		2202	4300	6502	SO:0001583	missense	25926					nucleolus		g.chr17:65734416G>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1708G>A	17.37:g.65734416G>A	ENSP00000253247:p.Asp570Asn					NOL11_ENST00000535137.1_Missense_Mutation_p.D388N	p.D570N	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		14	1823	+	all_cancers(12;1.54e-10)		570					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.1708G>A	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572391	0.28092	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.44482	0.92	5.22	2.13	0.27403	.	1.270750	0.04834	N	0.439251	T	0.35008	0.0917	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20140	-1.0284	10	0.23891	T	0.37	-0.4032	6.7748	0.23615	0.2883:0.0:0.7117:0.0	.	570	Q9H8H0	NOL11_HUMAN	N	570;388	ENSP00000253247:D570N	ENSP00000253247:D570N	D	+	1	0	NOL11	63164878	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.008000	0.12788	0.698000	0.31739	0.585000	0.79938	GAC		0.383	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		24	52	0	0	0	1	0	24	52				
PRSS21	10942	broad.mit.edu	37	16	2871372	2871372	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2871372C>T	ENST00000005995.3	+	6	753	c.711C>T	c.(709-711)gaC>gaT	p.D237D	PRSS21_ENST00000455114.1_Silent_p.D235D|PRSS21_ENST00000450020.3_Silent_p.D223D|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	237	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CCCAGGGTGACTCAGGTGGAC	0.642																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.(703-705)gaC>gaT		protease, serine, 21 (testisin)							46.0	50.0	49.0					16																	2871372		2198	4300	6498	SO:0001819	synonymous_variant	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2871372C>T	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.711C>T	16.37:g.2871372C>T						PRSS21_ENST00000450020.3_Silent_p.D223D|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Silent_p.D237D	p.D235D	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			6	811	+			237			Peptidase S1.		Q9NS34|Q9P2V6	Silent	SNP	ENST00000005995.3	37	c.705C>T	CCDS10478.1																																																																																				0.642	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		14	32	0	0	0	1	0	14	32				
ZNF862	643641	broad.mit.edu	37	7	149544895	149544895	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149544895C>T	ENST00000223210.4	+	4	558	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	105					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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ACAGTCCCTCCCGCCTCAGAA	0.542																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(313-315)Ccg>Tcg		zinc finger protein 862							41.0	45.0	44.0					7																	149544895		1953	4133	6086	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149544895C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.313C>T	7.37:g.149544895C>T	ENSP00000223210:p.Pro105Ser						p.P105S	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			4	558	+			105					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.313C>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744208	0.69418	.	.	ENSG00000106479	ENST00000223210;ENST00000460379	T	0.02525	4.26	5.39	5.39	0.77823	.	0.000000	0.51477	D	0.000099	T	0.11793	0.0287	L	0.55481	1.735	0.22842	N	0.998665	D	0.89917	1.0	D	0.83275	0.996	T	0.01869	-1.1257	10	0.56958	D	0.05	-26.6961	14.6842	0.69037	0.0:1.0:0.0:0.0	.	105	O60290	ZN862_HUMAN	S	105;21	ENSP00000223210:P105S	ENSP00000223210:P105S	P	+	1	0	ZNF862	149175828	0.035000	0.19736	0.104000	0.21259	0.004000	0.04260	1.669000	0.37492	2.537000	0.85549	0.655000	0.94253	CCG		0.542	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		4	26	0	0	0	1	0	4	26				
G3BP2	9908	broad.mit.edu	37	4	76570721	76570721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:76570721C>T	ENST00000359707.4	-	12	2127	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	G3BP2_ENST00000395719.3_Missense_Mutation_p.D448N|G3BP2_ENST00000357854.3_Missense_Mutation_p.D415N	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	448	Gly-rich.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCATCACGATCACGCATCATT	0.577																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1342-1344)Gat>Aat		GTPase activating protein (SH3 domain) binding protein 2							233.0	180.0	198.0					4																	76570721		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76570721C>T	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1342G>A	4.37:g.76570721C>T	ENSP00000352738:p.Asp448Asn					G3BP2_ENST00000395719.3_Missense_Mutation_p.D448N|G3BP2_ENST00000357854.3_Missense_Mutation_p.D415N	p.D448N	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		12	2127	-			448			Gly-rich.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1342G>A	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973065	0.74246	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	D;D;D	0.84223	-1.82;-1.82;-1.82	6.17	6.17	0.99709	.	0.040322	0.85682	D	0.000000	D	0.88695	0.6506	L	0.36672	1.1	0.80722	D	1	P;D	0.63880	0.93;0.993	P;D	0.70935	0.619;0.971	T	0.83138	-0.0110	10	0.15066	T	0.55	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	415;448	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	N	448;448;415	ENSP00000379069:D448N;ENSP00000352738:D448N;ENSP00000350518:D415N	ENSP00000350518:D415N	D	-	1	0	G3BP2	76789745	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.395000	0.79876	2.941000	0.99782	0.655000	0.94253	GAT		0.577	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		7	64	0	0	0	1	0	7	64				
PPAPDC3	84814	broad.mit.edu	37	9	134165639	134165639	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:134165639G>A	ENST00000372264.3	+	1	559	c.255G>A	c.(253-255)ctG>ctA	p.L85L	PPAPDC3_ENST00000372261.1_Silent_p.L85L	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	85	interaction with MTOR. {ECO:0000250}.				negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCAACTCCCTGCTGGCCATCG	0.647																																						ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(253-255)ctG>ctA		phosphatidic acid phosphatase type 2 domain containing 3							79.0	76.0	77.0					9																	134165639		2203	4300	6503	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165639G>A	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.255G>A	9.37:g.134165639G>A						PPAPDC3_ENST00000372261.1_Silent_p.L85L	p.L85L	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	559	+	all_hematologic(7;0.0119)		85			interaction with MTOR (By similarity).		Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.255G>A	CCDS6942.1																																																																																				0.647	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		42	84	0	0	0	1	0	42	84				
VEZT	55591	broad.mit.edu	37	12	95645794	95645794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:95645794G>A	ENST00000436874.1	+	2	220	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	VEZT_ENST00000261219.6_5'UTR|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	39					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACCAAAAACAGAAAAATGCAC	0.383																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(115-117)Gaa>Aaa		vezatin, adherens junctions transmembrane protein							111.0	106.0	108.0					12																	95645794		1861	4097	5958	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95645794G>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.115G>A	12.37:g.95645794G>A	ENSP00000410083:p.Glu39Lys					VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	p.E39K	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			2	220	+			39					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.115G>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574926	0.86542	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000552821;ENST00000397796	T;T;T	0.55930	2.12;0.73;0.49	5.76	5.76	0.90799	.	0.220206	0.38058	U	0.001829	T	0.47893	0.1470	L	0.58669	1.825	0.80722	D	1	B;B	0.29612	0.251;0.093	B;B	0.26614	0.071;0.033	T	0.41627	-0.9498	10	0.34782	T	0.22	-39.6457	12.4262	0.55548	0.0792:0.0:0.9208:0.0	.	39;39	C9J154;Q9HBM0	.;VEZA_HUMAN	K	39;39;58;30;39	ENSP00000410083:E39K;ENSP00000449591:E39K;ENSP00000449701:E58K	ENSP00000380898:E39K	E	+	1	0	VEZT	94169925	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.757000	0.55212	2.721000	0.93114	0.655000	0.94253	GAA		0.383	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		30	59	0	0	0	1	0	30	59				
CDH9	1007	broad.mit.edu	37	5	26988307	26988307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:26988307C>T	ENST00000231021.4	-	2	306	c.134G>A	c.(133-135)gGt>gAt	p.G45D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	45					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TAGCATTTTACCGTCATCTTT	0.408																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(133-135)gGt>gAt		cadherin 9, type 2 (T1-cadherin)							135.0	129.0	131.0					5																	26988307		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988307C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.134G>A	5.37:g.26988307C>T	ENSP00000231021:p.Gly45Asp						p.G45D	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			2	306	-			45					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.134G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	8.790	0.930365	0.18131	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.58358	0.51;0.34;1.87	5.64	1.93	0.25924	.	0.670270	0.16208	N	0.224620	T	0.37073	0.0990	L	0.34521	1.04	0.09310	N	1	B;B	0.18863	0.031;0.0	B;B	0.21151	0.033;0.002	T	0.20672	-1.0268	9	.	.	.	.	7.8116	0.29234	0.0:0.5959:0.0:0.4041	.	45;45	E7EPN0;Q9ULB4	.;CADH9_HUMAN	D	45	ENSP00000231021:G45D;ENSP00000426239:G45D;ENSP00000422538:G45D	.	G	-	2	0	CDH9	27024064	0.033000	0.19621	0.002000	0.10522	0.672000	0.39443	1.747000	0.38298	0.340000	0.23745	0.591000	0.81541	GGT		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		9	30	0	0	0	1	0	9	30				
ABCC12	94160	broad.mit.edu	37	16	48162392	48162392	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:48162392C>T	ENST00000311303.3	-	9	1838	c.1493G>A	c.(1492-1494)aGc>aAc	p.S498N	ABCC12_ENST00000448542.1_Missense_Mutation_p.S498N|ABCC12_ENST00000416054.1_Missense_Mutation_p.S498N	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	498	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AAAGCTTATGCTGTGCAGAAC	0.537																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1492-1494)aGc>aAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							272.0	216.0	235.0					16																	48162392		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48162392C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1493G>A	16.37:g.48162392C>T	ENSP00000311030:p.Ser498Asn					ABCC12_ENST00000416054.1_Missense_Mutation_p.S498N|ABCC12_ENST00000448542.1_Missense_Mutation_p.S498N	p.S498N	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			9	1838	-		all_cancers(37;0.0474)|all_lung(18;0.047)	498			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1493G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.552072	0.00918	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.92446	-2.55;-2.55;-3.04	5.24	4.15	0.48705	ABC transporter-like (1);	0.244967	0.45867	N	0.000324	T	0.67021	0.2849	N	0.00308	-1.67	0.19945	N	0.999943	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.63088	-0.6715	10	0.02654	T	1	.	6.6114	0.22753	0.0:0.1895:0.0:0.8105	.	498;498	Q96J65-2;Q96J65	.;MRP9_HUMAN	N	498;498;440;498	ENSP00000311030:S498N;ENSP00000401855:S498N;ENSP00000413046:S498N	ENSP00000311030:S498N	S	-	2	0	ABCC12	46719893	0.884000	0.30299	0.895000	0.35142	0.198000	0.23893	1.450000	0.35134	0.827000	0.34685	-0.320000	0.08662	AGC		0.537	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		40	61	0	0	0	1	0	40	61				
SYT5	6861	broad.mit.edu	37	19	55685905	55685905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55685905C>T	ENST00000354308.3	-	8	1309	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	SYT5_ENST00000590851.1_Missense_Mutation_p.V310M|SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.V314M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	314	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCACAGGGCACCTCGAAGCTG	0.522																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(940-942)Gtg>Atg		synaptotagmin V							187.0	181.0	183.0					19																	55685905		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55685905C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.940G>A	19.37:g.55685905C>T	ENSP00000346265:p.Val314Met					SYT5_ENST00000590851.1_Missense_Mutation_p.V310M|SYT5_ENST00000537500.1_Missense_Mutation_p.V314M|CTD-2587H24.5_ENST00000591665.1_RNA	p.V314M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	8	1309	-			314			C2 2.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.940G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073504	0.76415	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.74947	-0.89;-0.89	3.42	3.42	0.39159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.138244	0.47093	D	0.000247	D	0.86973	0.6062	M	0.86805	2.84	0.46478	D	0.999066	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.989;0.995	D	0.89453	0.3731	10	0.66056	D	0.02	.	14.7937	0.69863	0.0:1.0:0.0:0.0	.	310;313;314	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	M	314;314;310	ENSP00000442896:V314M;ENSP00000346265:V314M	ENSP00000346265:V314M	V	-	1	0	SYT5	60377717	0.970000	0.33590	1.000000	0.80357	0.996000	0.88848	0.251000	0.18257	2.220000	0.72140	0.561000	0.74099	GTG		0.522	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		55	87	0	0	0	1	0	55	87				
HLF	3131	broad.mit.edu	37	17	53345407	53345407	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:53345407C>T	ENST00000226067.5	+	2	884	c.411C>T	c.(409-411)ggC>ggT	p.G137G	HLF_ENST00000573945.1_Silent_p.G52G|HLF_ENST00000430986.2_Silent_p.G52G|HLF_ENST00000575345.1_Silent_p.G52G	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	137					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						TTCACCCTGGCATCCCATCTC	0.617			T	TCF3	ALL																																	ENST00000226067.5				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(409-411)ggC>ggT		hepatic leukemia factor							66.0	68.0	67.0					17																	53345407		2203	4300	6503	SO:0001819	synonymous_variant	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53345407C>T		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.411C>T	17.37:g.53345407C>T						HLF_ENST00000575345.1_Silent_p.G52G|HLF_ENST00000430986.2_Silent_p.G52G|HLF_ENST00000573945.1_Silent_p.G52G	p.G137G	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN			2	884	+			137					A8K1X8|Q6FHS9	Silent	SNP	ENST00000226067.5	37	c.411C>T	CCDS11585.1																																																																																				0.617	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		4	73	0	0	0	1	0	4	73				
WIPI1	55062	broad.mit.edu	37	17	66431795	66431795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:66431795G>A	ENST00000262139.5	-	6	586	c.587C>T	c.(586-588)gCc>gTc	p.A196V	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A114V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	196					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GGAGCCTGAGGCATTGAAGGT	0.522											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(586-588)gCc>gTc		WD repeat domain, phosphoinositide interacting 1							311.0	261.0	278.0					17																	66431795		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66431795G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.587C>T	17.37:g.66431795G>A	ENSP00000262139:p.Ala196Val		OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1091	WIPI1_ENST00000546360.1_Missense_Mutation_p.A114V|WIPI1_ENST00000589459.1_5'UTR	p.A196V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			6	586	-			196					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.587C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	9.573	1.121631	0.20877	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.51817	0.69;2.28	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.512503	0.22227	N	0.062863	T	0.46776	0.1410	L	0.57536	1.79	0.39727	D	0.97155	B	0.06786	0.001	B	0.10450	0.005	T	0.44574	-0.9319	10	0.14656	T	0.56	-7.415	19.2672	0.93993	0.0:0.0:1.0:0.0	.	196	Q5MNZ9	WIPI1_HUMAN	V	196;114	ENSP00000262139:A196V;ENSP00000437345:A114V	ENSP00000262139:A196V	A	-	2	0	WIPI1	63943390	1.000000	0.71417	0.406000	0.26421	0.203000	0.24098	5.790000	0.69038	2.552000	0.86080	0.555000	0.69702	GCC		0.522	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		7	73	0	0	0	1	0	7	73				
RP1L1	94137	broad.mit.edu	37	8	10467925	10467925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:10467925G>A	ENST00000382483.3	-	4	3906	c.3683C>T	c.(3682-3684)aCa>aTa	p.T1228I		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1228					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)				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)		GGGCAGCTCTGTCCCCTGTGT	0.577																																						ENST00000382483.3																			0				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						c.(3682-3684)aCa>aTa		retinitis pigmentosa 1-like 1							38.0	41.0	40.0					8																	10467925		1995	4166	6161	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467925G>A	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.3683C>T	8.37:g.10467925G>A	ENSP00000371923:p.Thr1228Ile						p.T1228I	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3906	-			1228					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3683C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	4.306	0.056008	0.08291	.	.	ENSG00000183638	ENST00000382483	T	0.04049	3.72	4.38	-7.69	0.01263	.	1.614530	0.04045	N	0.303878	T	0.01489	0.0048	N	0.04508	-0.205	0.09310	N	1	B	0.26744	0.158	B	0.17433	0.018	T	0.42799	-0.9430	10	0.07990	T	0.79	-0.1817	0.7665	0.01016	0.272:0.3013:0.2268:0.1998	.	1228	A6NKC6	.	I	1228	ENSP00000371923:T1228I	ENSP00000371923:T1228I	T	-	2	0	RP1L1	10505335	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.187000	0.09656	-1.589000	0.01625	-1.099000	0.02127	ACA		0.577	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			6	38	0	0	0	1	0	6	38				
SLC11A1	6556	broad.mit.edu	37	2	219254723	219254723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219254723C>T	ENST00000233202.6	+	9	1266	c.926C>T	c.(925-927)gCc>gTc	p.A309V	SLC11A1_ENST00000539932.1_Missense_Mutation_p.A191V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	309					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.A309D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGGCAGGCCTTCTACCAG	0.542																																						ENST00000233202.6																			1	Substitution - Missense(1)	p.A309D(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(925-927)gCc>gTc		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							165.0	128.0	141.0					2																	219254723		2203	4300	6503	SO:0001583	missense	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219254723C>T	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.926C>T	2.37:g.219254723C>T	ENSP00000233202:p.Ala309Val					SLC11A1_ENST00000539932.1_Missense_Mutation_p.A191V	p.A309V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1266	+		Renal(207;0.0474)	309					C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.926C>T	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387113	0.82902	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.68479	-0.33;-0.33	5.1	5.1	0.69264	.	0.069495	0.64402	D	0.000014	T	0.71290	0.3322	L	0.49778	1.585	0.58432	D	0.999998	B;B;B	0.24132	0.036;0.098;0.022	B;B;B	0.39935	0.05;0.314;0.117	T	0.71613	-0.4540	10	0.87932	D	0	-28.5017	18.704	0.91631	0.0:1.0:0.0:0.0	.	309;191;309	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	V	309;191	ENSP00000233202:A309V;ENSP00000443435:A191V	ENSP00000233202:A309V	A	+	2	0	SLC11A1	218962967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.472000	0.60189	2.650000	0.89964	0.561000	0.74099	GCC		0.542	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		4	35	0	0	0	1	0	4	35				
USP11	8237	broad.mit.edu	37	X	47104197	47104197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:47104197C>T	ENST00000218348.3	+	15	2089	c.2089C>T	c.(2089-2091)Ctc>Ttc	p.L697F	USP11_ENST00000377107.2_Missense_Mutation_p.L654F	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	697	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GTGCCCGTTCCTCCTGGACAA	0.632																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1960-1962)Ctc>Ttc		ubiquitin specific peptidase 11							41.0	32.0	35.0					X																	47104197		2202	4299	6501	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47104197C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2089C>T	X.37:g.47104197C>T	ENSP00000218348:p.Leu697Phe					USP11_ENST00000218348.3_Missense_Mutation_p.L697F	p.L654F			P51784	UBP11_HUMAN			15	2314	+			697					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1960C>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220142	0.39201	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21543	2.02;2.0	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.882556	0.09529	N	0.789835	T	0.20740	0.0499	L	0.38175	1.15	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.11329	0.006;0.005	T	0.12268	-1.0554	10	0.56958	D	0.05	-10.4401	12.6126	0.56560	0.0:1.0:0.0:0.0	.	423;697	B3KP28;P51784	.;UBP11_HUMAN	F	654;697	ENSP00000366311:L654F;ENSP00000218348:L697F	ENSP00000218348:L697F	L	+	1	0	USP11	46989141	0.027000	0.19231	0.025000	0.17156	0.541000	0.35023	0.927000	0.28818	2.030000	0.59900	0.422000	0.28245	CTC		0.632	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		13	20	0	0	0	1	0	13	20				
FKBP9P1	360132	broad.mit.edu	37	7	55750467	55750467	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:55750467G>A	ENST00000455909.1	-	0	750					NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						TCAAAGCCAGGAGCGAGTTTC	0.493																																						ENST00000455909.1																			0				endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like							87.0	74.0	78.0					7																	55750467		692	1578	2270			360132							g.chr7:55750467G>A																													7.37:g.55750467G>A								NR_027340.1|NR_027342.1						0	750	-								B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																						0.493	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			27	50	0	0	0	1	0	27	50				
SLC13A4	26266	broad.mit.edu	37	7	135384243	135384243	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:135384243C>T	ENST00000354042.4	-	8	1454	c.765G>A	c.(763-765)aaG>aaA	p.K255K		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	255					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGGACCTGTACTTTCTGTTCA	0.547																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(763-765)aaG>aaA		solute carrier family 13 (sodium/sulfate symporter), member 4							201.0	154.0	170.0					7																	135384243		2203	4300	6503	SO:0001819	synonymous_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135384243C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.765G>A	7.37:g.135384243C>T							p.K255K	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			8	1454	-			255					A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	c.765G>A	CCDS5840.1																																																																																				0.547	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		18	62	0	0	0	1	0	18	62				
TMEM108	66000	broad.mit.edu	37	3	133109097	133109097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:133109097G>A	ENST00000321871.6	+	5	1734	c.1524G>A	c.(1522-1524)tgG>tgA	p.W508*	TMEM108_ENST00000393130.3_Nonsense_Mutation_p.W508*|TMEM108_ENST00000508711.1_Nonsense_Mutation_p.W38*	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	508						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAGCTACTGGAACAACACCA	0.532																																						ENST00000321871.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1522-1524)tgG>tgA		transmembrane protein 108							372.0	343.0	352.0					3																	133109097		2203	4300	6503	SO:0001587	stop_gained	66000					integral to membrane		g.chr3:133109097G>A	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1524G>A	3.37:g.133109097G>A	ENSP00000324651:p.Trp508*					TMEM108_ENST00000393130.3_Nonsense_Mutation_p.W508*|TMEM108_ENST00000508711.1_Nonsense_Mutation_p.W38*	p.W508*	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN			5	1734	+			508					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Nonsense_Mutation	SNP	ENST00000321871.6	37	c.1524G>A	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	G	39	7.772390	0.98480	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000508711	.	.	.	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3654	18.6207	0.91319	0.0:0.0:1.0:0.0	.	.	.	.	X	508;508;38	.	ENSP00000324651:W508X	W	+	3	0	TMEM108	134591787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.404000	0.97306	2.391000	0.81399	0.655000	0.94253	TGG		0.532	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		25	288	0	0	0	1	0	25	288				
RUNX2	860	broad.mit.edu	37	6	45399648	45399648	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:45399648G>A	ENST00000371438.1	+	3	830	c.472G>A	c.(472-474)Gcg>Acg	p.A158T	RUNX2_ENST00000371432.3_Missense_Mutation_p.A144T|RUNX2_ENST00000359524.5_Missense_Mutation_p.A144T|RUNX2_ENST00000352853.5_Missense_Mutation_p.A226T|RUNX2_ENST00000465038.2_Missense_Mutation_p.A158T|RUNX2_ENST00000541979.1_Missense_Mutation_p.A226T|RUNX2_ENST00000576263.1_Missense_Mutation_p.A158T|RUNX2_ENST00000371436.6_Missense_Mutation_p.A158T	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	158	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TACTGTCATGGCGGGTAACGA	0.478																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(472-474)Gcg>Acg		runt-related transcription factor 2							187.0	178.0	181.0					6																	45399648		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45399648G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.472G>A	6.37:g.45399648G>A	ENSP00000360493:p.Ala158Thr					RUNX2_ENST00000541979.1_Missense_Mutation_p.A226T|RUNX2_ENST00000359524.5_Missense_Mutation_p.A144T|RUNX2_ENST00000576263.1_Missense_Mutation_p.A158T|RUNX2_ENST00000465038.2_Missense_Mutation_p.A158T|RUNX2_ENST00000371436.6_Missense_Mutation_p.A158T|RUNX2_ENST00000371432.3_Missense_Mutation_p.A144T|RUNX2_ENST00000352853.5_Missense_Mutation_p.A226T	p.A158T	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			3	830	+			158			Runt.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.472G>A	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	32	5.151215	0.94645	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99582	-6.22;-6.22;-6.22;-6.22;-6.22;-6.22;-6.22	4.96	4.96	0.65561	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.995	D	0.97459	1.0033	10	0.87932	D	0	-5.7625	18.5833	0.91180	0.0:0.0:1.0:0.0	.	226;158;144	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	T	158;226;226;158;158;144;144	ENSP00000420707:A158T;ENSP00000319087:A226T;ENSP00000446290:A226T;ENSP00000360493:A158T;ENSP00000360491:A158T;ENSP00000352514:A144T;ENSP00000360486:A144T	ENSP00000319087:A226T	A	+	1	0	RUNX2	45507626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.375000	0.97178	2.450000	0.82876	0.650000	0.86243	GCG		0.478	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		8	120	0	0	0	1	0	8	120				
LRP3	4037	broad.mit.edu	37	19	33695656	33695656	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:33695656C>T	ENST00000253193.7	+	4	575	c.373C>T	c.(373-375)Cca>Tca	p.P125S	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	125	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTCCGCCATCCCACCTGCCTT	0.662																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(373-375)Cca>Tca		low density lipoprotein receptor-related protein 3							69.0	67.0	68.0					19																	33695656		2203	4300	6503	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33695656C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.373C>T	19.37:g.33695656C>T	ENSP00000253193:p.Pro125Ser					LRP3_ENST00000592484.1_3'UTR	p.P125S	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			4	575	+	Esophageal squamous(110;0.137)		125			CUB 1.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.373C>T	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024211	0.75390	.	.	ENSG00000130881	ENST00000253193	T	0.35421	1.31	4.3	4.3	0.51218	CUB (5);	0.132333	0.52532	D	0.000075	T	0.61986	0.2391	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62882	-0.6760	10	0.30854	T	0.27	-20.4482	16.2683	0.82601	0.0:1.0:0.0:0.0	.	125	O75074	LRP3_HUMAN	S	125	ENSP00000253193:P125S	ENSP00000253193:P125S	P	+	1	0	LRP3	38387496	1.000000	0.71417	0.986000	0.45419	0.601000	0.36947	7.543000	0.82106	2.397000	0.81536	0.561000	0.74099	CCA		0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			8	76	0	0	0	1	0	8	76				
PI4K2B	55300	broad.mit.edu	37	4	25258262	25258262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:25258262G>A	ENST00000264864.6	+	4	911	c.722G>A	c.(721-723)gGt>gAt	p.G241D	PI4K2B_ENST00000512921.1_Missense_Mutation_p.G145D	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	241	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CCAAAAGTGGGTAGAAAGTTT	0.418																																						ENST00000264864.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15						c.(721-723)gGt>gAt		phosphatidylinositol 4-kinase type 2 beta							110.0	112.0	111.0					4																	25258262		2203	4300	6503	SO:0001583	missense	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25258262G>A	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.722G>A	4.37:g.25258262G>A	ENSP00000264864:p.Gly241Asp					PI4K2B_ENST00000512921.1_Missense_Mutation_p.G145D	p.G241D	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN			4	911	+		Breast(46;0.173)	241			PI3K/PI4K.		Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	c.722G>A	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837671	0.91117	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T	0.50001	0.76	6.07	6.07	0.98685	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.044682	0.85682	D	0.000000	T	0.75049	0.3797	M	0.89715	3.055	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.78823	-0.2052	10	0.66056	D	0.02	-17.8402	17.0665	0.86559	0.0:0.1347:0.8652:0.0	.	241	Q8TCG2	P4K2B_HUMAN	D	145;241;210	ENSP00000264864:G241D	ENSP00000264864:G241D	G	+	2	0	PI4K2B	24867360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.359000	0.66074	2.885000	0.99019	0.655000	0.94253	GGT		0.418	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		26	65	0	0	0	1	0	26	65				
UCP2	7351	broad.mit.edu	37	11	73689479	73689479	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:73689479C>T	ENST00000310473.3	-	0	787				UCP2_ENST00000536983.1_De_novo_Start_OutOfFrame|UCP2_ENST00000542615.1_5'Flank	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)						aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GACAGGGGCACCTTTAATCAG	0.537																																					Colon(191;388 2040 43557 45622 48925)	ENST00000310473.3																			0				large_intestine(1)|lung(3)|prostate(1)	5								uncoupling protein 2 (mitochondrial, proton carrier)																																						7351				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73689479C>T	U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.-56G>A	11.37:g.73689479C>T						UCP2_ENST00000536983.1_De_novo_Start_OutOfFrame		NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN			0	787	-	Breast(11;0.000112)							Q4PJH8|Q53HM3	Translation_Start_Site	SNP	ENST00000310473.3	37		CCDS8228.1																																																																																				0.537	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		6	6	0	0	0	1	0	6	6				
SPATA12	353324	broad.mit.edu	37	3	57108055	57108055	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:57108055C>T	ENST00000334325.1	+	2	1008	c.333C>T	c.(331-333)ctC>ctT	p.L111L	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	111										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CTCCAGCTCTCCTGATACAGC	0.443																																						ENST00000334325.1																			0				large_intestine(2)|lung(1)	3						c.(331-333)ctC>ctT		spermatogenesis associated 12							77.0	78.0	78.0					3																	57108055		2203	4300	6503	SO:0001819	synonymous_variant	353324							g.chr3:57108055C>T	AY221117	CCDS2879.1	3p21.2	2012-09-19			ENSG00000186451	ENSG00000186451			23221	protein-coding gene	gene with protein product		609869				22981541, 17251597	Standard	NM_181727		Approved		uc003dij.1	Q7Z6I5	OTTHUMG00000158862	ENST00000334325.1:c.333C>T	3.37:g.57108055C>T						ARHGEF3_ENST00000338458.4_Intron	p.L111L	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)	2	1008	+			111					A0AVA8|B2RMW1	Silent	SNP	ENST00000334325.1	37	c.333C>T	CCDS2879.1																																																																																				0.443	SPATA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352457.2	NM_181727		19	57	0	0	0	1	0	19	57				
CDCA7L	55536	broad.mit.edu	37	7	21947805	21947805	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:21947805C>T	ENST00000406877.3	-	4	903	c.624G>A	c.(622-624)caG>caA	p.Q208Q	CDCA7L_ENST00000373934.4_Silent_p.Q162Q|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Silent_p.Q174Q	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	208					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)				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						CTGAACTCTCCTGGCTCTCAT	0.478																																						ENST00000406877.3																			0				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						c.(622-624)caG>caA		cell division cycle associated 7-like							76.0	68.0	71.0					7																	21947805		2203	4300	6503	SO:0001819	synonymous_variant	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21947805C>T		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.624G>A	7.37:g.21947805C>T						CDCA7L_ENST00000373934.4_Silent_p.Q162Q|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Silent_p.Q174Q	p.Q208Q	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			4	903	-			208					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	ENST00000406877.3	37	c.624G>A	CCDS5374.1																																																																																				0.478	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		10	45	0	0	0	1	0	10	45				
ARHGAP21	57584	broad.mit.edu	37	10	24896470	24896470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:24896470G>A	ENST00000396432.2	-	11	3128	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S668L|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	880					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTCATCATATGATTTTGATCT	0.378																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2641-2643)tCa>tTa		Rho GTPase activating protein 21							107.0	108.0	107.0					10																	24896470		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24896470G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2642C>T	10.37:g.24896470G>A	ENSP00000379709:p.Ser881Leu					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S668L|ARHGAP21_ENST00000493154.1_5'UTR	p.S881L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			11	3128	-			880					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2642C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	35	5.539828	0.96474	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65434	-0.6169	10	0.62326	D	0.03	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	871;880	F8W9U9;Q5T5U3	.;RHG21_HUMAN	L	881;668;871;881;716	ENSP00000379709:S881L;ENSP00000365604:S668L;ENSP00000365592:S871L;ENSP00000405018:S881L	ENSP00000365604:S668L	S	-	2	0	ARHGAP21	24936476	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.412000	0.97347	2.820000	0.97059	0.650000	0.86243	TCA		0.378	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		6	103	0	0	0	1	0	6	103				
FNDC1	84624	broad.mit.edu	37	6	159687190	159687190	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:159687190G>A	ENST00000297267.9	+	21	5559	c.5359G>A	c.(5359-5361)Gtg>Atg	p.V1787M	FNDC1_ENST00000340366.6_Missense_Mutation_p.V1724M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1787					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACGGCAATATGTGAAGCGCAC	0.463																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(5359-5361)Gtg>Atg		fibronectin type III domain containing 1							149.0	144.0	146.0					6																	159687190		1979	4170	6149	SO:0001583	missense	84624					extracellular region		g.chr6:159687190G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5359G>A	6.37:g.159687190G>A	ENSP00000297267:p.Val1787Met					FNDC1_ENST00000340366.6_Missense_Mutation_p.V1724M	p.V1787M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	21	5559	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1787					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5359G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.331561|5.331561	0.95733|0.95733	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.70631	.|-0.5;-0.5	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80854|0.80854	0.4703|0.4703	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.76879|0.76879	-0.2796|-0.2796	5|9	.|.	.|.	.|.	-24.8357|-24.8357	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1787	.|Q4ZHG4	.|FNDC1_HUMAN	Y|M	1682|1787;1724	.|ENSP00000297267:V1787M;ENSP00000342460:V1724M	.|.	C|V	+|+	2|1	0|0	FNDC1|FNDC1	159607180|159607180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.751000|9.751000	0.98889|0.98889	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.463	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		30	56	0	0	0	1	0	30	56				
ANKRD26	22852	broad.mit.edu	37	10	27382613	27382613	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:27382613C>T	ENST00000376087.4	-	2	523		c.e2+1		ANKRD26_ENST00000436985.2_Splice_Site	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26						glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTACTATATACCTTCATCAGA	0.388																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.e2+1		ankyrin repeat domain 26							94.0	90.0	91.0					10																	27382613		1952	4169	6121	SO:0001630	splice_region_variant	22852					centrosome		g.chr10:27382613C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.357+1G>A	10.37:g.27382613C>T						ANKRD26_ENST00000436985.2_Splice_Site		NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			2	523	-								A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Splice_Site	SNP	ENST00000376087.4	37		CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077444	0.94000	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9643	0.64199	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD26	27422619	1.000000	0.71417	0.613000	0.29037	0.940000	0.58332	6.996000	0.76263	2.160000	0.67779	0.491000	0.48974	.		0.388	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		Intron	5	71	0	0	0	1	0	5	71				
JAK1	3716	broad.mit.edu	37	1	65316547	65316547	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:65316547C>T	ENST00000342505.4	-	12	1943	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	565					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)			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)	GGTAGACGGGCTGCCACTCCT	0.582			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				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						c.(1693-1695)caG>caA		Janus kinase 1							42.0	46.0	45.0					1																	65316547		1958	4156	6114	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65316547C>T	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.1695G>A	1.37:g.65316547C>T							p.Q565Q	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	12	1943	-			565					Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.1695G>A	CCDS41346.1																																																																																				0.582	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		15	24	0	0	0	1	0	15	24				
GRIN2A	2903	broad.mit.edu	37	16	10031818	10031818	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:10031818G>A	ENST00000396573.2	-	4	1314	c.1005C>T	c.(1003-1005)caC>caT	p.H335H	GRIN2A_ENST00000566670.1_5'Flank|GRIN2A_ENST00000535259.1_Silent_p.H178H|GRIN2A_ENST00000404927.2_Silent_p.H335H|GRIN2A_ENST00000396575.2_Silent_p.H335H|GRIN2A_ENST00000562109.1_Silent_p.H335H|GRIN2A_ENST00000330684.3_Silent_p.H335H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	335					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTTCTTACGGGTGCAAGGTGT	0.507																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1003-1005)caC>caT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						53.0	51.0	51.0					16																	10031818		2197	4300	6497	SO:0001819	synonymous_variant	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10031818G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1005C>T	16.37:g.10031818G>A						GRIN2A_ENST00000562109.1_Silent_p.H335H|GRIN2A_ENST00000535259.1_Silent_p.H178H|GRIN2A_ENST00000404927.2_Silent_p.H335H|GRIN2A_ENST00000396575.2_Silent_p.H335H|GRIN2A_ENST00000330684.3_Silent_p.H335H	p.H335H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1314	-			335					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.1005C>T	CCDS10539.1																																																																																				0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	28	0	0	0	1	0	6	28				
RNF40	9810	broad.mit.edu	37	16	30773969	30773969	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30773969C>T	ENST00000324685.6	+	2	538	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.P35S|C16orf93_ENST00000543610.1_5'UTR|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.P35S|RNF40_ENST00000402121.3_Missense_Mutation_p.P35S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	35					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TCTTATCGAGCCCATTCGTCT	0.612																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(103-105)Ccc>Tcc		ring finger protein 40, E3 ubiquitin protein ligase							63.0	57.0	59.0					16																	30773969		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30773969C>T	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.103C>T	16.37:g.30773969C>T	ENSP00000325677:p.Pro35Ser					RNF40_ENST00000402121.3_Missense_Mutation_p.P35S|RNF40_ENST00000357890.5_Missense_Mutation_p.P35S|RNF40_ENST00000563683.1_Missense_Mutation_p.P35S|C16orf93_ENST00000543610.1_5'UTR	p.P35S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		2	538	+			35					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.103C>T	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203449	0.95033	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.35789	1.29;1.3;1.29	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	M	0.80422	2.495	0.80722	D	1	D;D;P;P	0.89917	1.0;1.0;0.83;0.908	D;D;P;P	0.83275	0.996;0.996;0.627;0.758	T	0.66380	-0.5938	10	0.66056	D	0.02	-27.3286	18.4386	0.90656	0.0:1.0:0.0:0.0	.	35;35;35;35	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	S	35	ENSP00000325677:P35S;ENSP00000350563:P35S;ENSP00000384942:P35S	ENSP00000325677:P35S	P	+	1	0	RNF40	30681470	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.536000	0.53582	2.894000	0.99253	0.655000	0.94253	CCC		0.612	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		4	24	0	0	0	1	0	4	24				
NLK	51701	broad.mit.edu	37	17	26370172	26370172	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26370172G>A	ENST00000407008.3	+	1	991	c.273G>A	c.(271-273)caG>caA	p.Q91Q	NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Silent_p.Q91Q	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	91	Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGCAACAACAGCCATATTTCC	0.642																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(271-273)caG>caA		nemo-like kinase							60.0	52.0	55.0					17																	26370172		2203	4300	6503	SO:0001819	synonymous_variant	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26370172G>A	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.273G>A	17.37:g.26370172G>A						NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Silent_p.Q91Q	p.Q91Q	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	991	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		91					B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	37	c.273G>A	CCDS11224.2																																																																																				0.642	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		3	33	0	0	0	1	0	3	33				
FAM171A1	221061	broad.mit.edu	37	10	15255174	15255174	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:15255174C>T	ENST00000378116.4	-	8	2419	c.2413G>A	c.(2413-2415)Gtc>Atc	p.V805I	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	805						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGGGTACAGACCGTGGTCCCA	0.632																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2413-2415)Gtc>Atc		family with sequence similarity 171, member A1							62.0	54.0	57.0					10																	15255174		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255174C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2413G>A	10.37:g.15255174C>T	ENSP00000367356:p.Val805Ile						p.V805I	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2419	-			805					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2413G>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650596	0.29336	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.33216	1.42	5.13	4.22	0.49857	.	0.533088	0.19918	N	0.103144	T	0.35364	0.0929	M	0.68952	2.095	0.20873	N	0.999838	P	0.36354	0.549	B	0.37780	0.258	T	0.17992	-1.0351	10	0.33940	T	0.23	-19.4203	15.0696	0.72024	0.143:0.857:0.0:0.0	.	805	Q5VUB5	F1711_HUMAN	I	805;804	ENSP00000367356:V805I	ENSP00000367356:V805I	V	-	1	0	FAM171A1	15295180	0.740000	0.28207	0.206000	0.23566	0.935000	0.57460	3.477000	0.53151	1.365000	0.46057	0.563000	0.77884	GTC		0.632	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		21	49	0	0	0	1	0	21	49				
CDH1	999	broad.mit.edu	37	16	68867205	68867205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:68867205G>A	ENST00000261769.5	+	16	2643	c.2452G>A	c.(2452-2454)Gct>Act	p.A818T	CDH1_ENST00000422392.2_Missense_Mutation_p.A757T|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	818	Required for binding alpha, beta and gamma catenins.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCTGAAAGCGGCTGATACTGA	0.488			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		0				NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(2452-2454)Gct>Act		cadherin 1, type 1, E-cadherin (epithelial)							78.0	79.0	78.0					16																	68867205		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68867205G>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2452G>A	16.37:g.68867205G>A	ENSP00000261769:p.Ala818Thr					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.A757T	p.A818T	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	16	2643	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	818			Required for binding alpha, beta and gamma catenins.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.2452G>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046177	0.75846	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.79247	-1.25;-1.25	6.04	6.04	0.98038	Cadherin, cytoplasmic domain (1);	0.000000	0.50627	D	0.000109	D	0.91250	0.7242	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91931	0.5555	10	0.72032	D	0.01	.	20.1899	0.98228	0.0:0.0:1.0:0.0	.	757;818	Q9UII8;P12830	.;CADH1_HUMAN	T	818;836;757	ENSP00000261769:A818T;ENSP00000414946:A757T	ENSP00000261769:A818T	A	+	1	0	CDH1	67424706	1.000000	0.71417	0.612000	0.29024	0.053000	0.15095	9.807000	0.99171	2.873000	0.98535	0.563000	0.77884	GCT		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		13	80	0	0	0	1	0	13	80				
MACF1	23499	broad.mit.edu	37	1	39895507	39895507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39895507G>A	ENST00000372915.3	+	63	16672	c.16585G>A	c.(16585-16587)Gtg>Atg	p.V5529M	MACF1_ENST00000545844.1_Missense_Mutation_p.V3571M|MACF1_ENST00000539005.1_Missense_Mutation_p.V3441M|MACF1_ENST00000567887.1_Missense_Mutation_p.V5670M|MACF1_ENST00000564288.1_Missense_Mutation_p.V5633M|MACF1_ENST00000317713.7_Missense_Mutation_p.V3571M|MACF1_ENST00000289893.4_Missense_Mutation_p.V4073M|MACF1_ENST00000361689.2_Missense_Mutation_p.V3571M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5529					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)			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)			AGGTGAGGAGGTGTTACTTAT	0.423																																						ENST00000564288.1																			0				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						c.(16897-16899)Gtg>Atg		microtubule-actin crosslinking factor 1							83.0	96.0	91.0					1																	39895507		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39895507G>A	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.16585G>A	1.37:g.39895507G>A	ENSP00000362006:p.Val5529Met					MACF1_ENST00000361689.2_Missense_Mutation_p.V3571M|MACF1_ENST00000317713.7_Missense_Mutation_p.V3571M|MACF1_ENST00000289893.4_Missense_Mutation_p.V4073M|MACF1_ENST00000567887.1_Missense_Mutation_p.V5670M|MACF1_ENST00000539005.1_Missense_Mutation_p.V3441M|MACF1_ENST00000545844.1_Missense_Mutation_p.V3571M|MACF1_ENST00000372915.3_Missense_Mutation_p.V5529M	p.V5633M			Q9UPN3	MACF1_HUMAN	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)		65	17674	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5638					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16897G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.245223|4.245223	0.80024|0.80024	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.48522	.|1.29;0.81;1.29;1.3;0.81;1.29	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.000000	.|0.52532	.|D	.|0.000069	T|T	0.70876|0.70876	0.3274|0.3274	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.991	T|T	0.70633|0.70633	-0.4818|-0.4818	5|10	.|0.72032	.|D	.|0.01	.|.	20.6526|20.6526	0.99598|0.99598	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5529;3571;3515	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	D|M	2574|3571;5529;3571;3571;3441;4073	.|ENSP00000439537:V3571M;ENSP00000362006:V5529M;ENSP00000354573:V3571M;ENSP00000313438:V3571M;ENSP00000444364:V3441M;ENSP00000289893:V4073M	.|ENSP00000289893:V4073M	G|V	+|+	2|1	0|0	MACF1|MACF1	39668094|39668094	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.938000|0.938000	0.57974|0.57974	8.015000|8.015000	0.88690|0.88690	2.890000|2.890000	0.99128|0.99128	0.586000|0.586000	0.80456|0.80456	GGT|GTG		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		6	161	0	0	0	1	0	6	161				
GPC3	2719	broad.mit.edu	37	X	132887690	132887690	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:132887690C>T	ENST00000370818.3	-	3	1296	c.851G>A	c.(850-852)gGc>gAc	p.G284D	GPC3_ENST00000394299.2_Missense_Mutation_p.G284D|GPC3_ENST00000543339.1_Missense_Mutation_p.G230D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	284					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TGCCATACAGCCTTGCATGAC	0.483			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(850-852)gGc>gAc		glypican 3							572.0	365.0	435.0					X																	132887690		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887690C>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.851G>A	X.37:g.132887690C>T	ENSP00000359854:p.Gly284Asp					GPC3_ENST00000394299.2_Missense_Mutation_p.G284D|GPC3_ENST00000543339.1_Missense_Mutation_p.G230D	p.G284D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			3	1296	-	Acute lymphoblastic leukemia(192;0.000127)		284					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.851G>A	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.56|16.56	3.157002|3.157002	0.57259|0.57259	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000406757|ENST00000370818;ENST00000394299;ENST00000543339	.|T;T;T	.|0.66460	.|-0.21;-0.21;-0.21	5.96|5.96	5.1|5.1	0.69264|0.69264	.|Glypican, conserved site (1);	.|0.098556	.|0.64402	.|D	.|0.000001	T|T	0.80412|0.80412	0.4618|0.4618	M|M	0.77616|0.77616	2.38|2.38	0.42295|0.42295	D|D	0.992155|0.992155	.|D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.999	.|D;D;D;D	.|0.91635	.|0.971;0.999;0.971;0.971	T|T	0.82289|0.82289	-0.0531|-0.0531	5|10	.|0.87932	.|D	.|0	.|.	10.4079|10.4079	0.44274|0.44274	0.1507:0.7076:0.1418:0.0|0.1507:0.7076:0.1418:0.0	.|.	.|268;230;284;284	.|B4DTD8;G3V1R0;C9JLE3;P51654	.|.;.;.;GPC3_HUMAN	T|D	14|284;284;230	.|ENSP00000359854:G284D;ENSP00000377836:G284D;ENSP00000444222:G230D	.|ENSP00000359854:G284D	A|G	-|-	1|2	0|0	GPC3|GPC3	132715356|132715356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.478000|4.478000	0.60230|0.60230	1.266000|1.266000	0.44231|0.44231	0.594000|0.594000	0.82650|0.82650	GCT|GGC		0.483	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		42	98	0	0	0	1	0	42	98				
SYCP2L	221711	broad.mit.edu	37	6	10928682	10928682	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:10928682C>T	ENST00000283141.6	+	18	1783	c.1487C>T	c.(1486-1488)cCt>cTt	p.P496L	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	496						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ccgcaacaACCTGTGAGTACA	0.517																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.e18+1		synaptonemal complex protein 2-like							95.0	100.0	98.0					6																	10928682		1894	4104	5998	SO:0001630	splice_region_variant	221711					nucleus		g.chr6:10928682C>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1488+1C>T	6.37:g.10928682C>T						RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	p.P496_splice	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		18	1783	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	496					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Splice_Site	SNP	ENST00000283141.6	37	c.1488_splice	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	C	8.504	0.864858	0.17250	.	.	ENSG00000153157	ENST00000283141	T	0.18810	2.19	1.42	1.42	0.22433	.	3.356540	0.01537	U	0.019077	T	0.04407	0.0121	N	0.14661	0.345	0.18873	N	0.999986	B	0.17268	0.021	B	0.10450	0.005	T	0.26258	-1.0108	10	0.33940	T	0.23	.	6.2246	0.20701	0.0:1.0:0.0:0.0	.	496	Q5T4T6	SYC2L_HUMAN	L	496	ENSP00000283141:P496L	ENSP00000283141:P496L	P	+	2	0	SYCP2L	11036668	0.186000	0.23225	0.060000	0.19600	0.060000	0.15804	1.197000	0.32211	1.069000	0.40788	0.511000	0.50034	CCT		0.517	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	Missense_Mutation	17	30	0	0	0	1	0	17	30				
ZNF416	55659	broad.mit.edu	37	19	58083878	58083878	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58083878G>A	ENST00000196489.3	-	4	1616	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	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)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACATACATAAGGCCTTTCTGC	0.448																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1393-1395)cCt>cTt		zinc finger protein 416							101.0	96.0	98.0					19																	58083878		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58083878G>A	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1394C>T	19.37:g.58083878G>A	ENSP00000196489:p.Pro465Leu						p.P465L	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1616	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	465					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1394C>T	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303873	0.40795	.	.	ENSG00000083817	ENST00000196489;ENST00000428052	T	0.27557	1.66	3.34	3.34	0.38264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50257	0.1605	L	0.60067	1.865	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.55016	-0.8206	9	0.66056	D	0.02	.	13.9453	0.64080	0.0:0.0:1.0:0.0	.	465	Q9BWM5	ZN416_HUMAN	L	465;363	ENSP00000196489:P465L	ENSP00000196489:P465L	P	-	2	0	ZNF416	62775690	1.000000	0.71417	0.005000	0.12908	0.286000	0.27126	5.207000	0.65197	1.868000	0.54150	0.563000	0.77884	CCT		0.448	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		5	143	0	0	0	1	0	5	143				
DDX28	55794	broad.mit.edu	37	16	68055766	68055766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:68055766G>A	ENST00000332395.5	-	1	2004	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000565263.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	447	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TATGTCTCGGGAGCTCTTCTG	0.512																																						ENST00000332395.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(1339-1341)tCc>tTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							75.0	73.0	74.0					16																	68055766		2198	4300	6498	SO:0001583	missense	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68055766G>A	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1340C>T	16.37:g.68055766G>A	ENSP00000332340:p.Ser447Phe						p.S447F	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	2004	-		Ovarian(137;0.0563)	447			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000332395.5	37	c.1340C>T	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689401	0.29962	.	.	ENSG00000182810	ENST00000332395	T	0.76578	-1.03	5.81	4.86	0.63082	Helicase, C-terminal (3);	0.942075	0.09017	N	0.860707	T	0.73877	0.3643	L	0.51422	1.61	0.09310	N	1	B	0.17852	0.024	B	0.28553	0.091	T	0.62728	-0.6793	10	0.72032	D	0.01	-16.1093	7.0801	0.25227	0.0821:0.0:0.6303:0.2876	.	447	Q9NUL7	DDX28_HUMAN	F	447	ENSP00000332340:S447F	ENSP00000332340:S447F	S	-	2	0	DDX28	66613267	0.013000	0.17824	1.000000	0.80357	0.951000	0.60555	1.472000	0.35376	2.752000	0.94435	0.557000	0.71058	TCC		0.512	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		5	48	0	0	0	1	0	5	48				
INHA	3623	broad.mit.edu	37	2	220437227	220437227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220437227C>T	ENST00000243786.2	+	1	311	c.131C>T	c.(130-132)cCc>cTc	p.P44L	OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000404537.1_5'Flank|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373873.4_5'Flank|OBSL1_ENST00000603926.1_5'Flank|OBSL1_ENST00000373876.1_5'Flank|OBSL1_ENST00000289656.3_5'Flank|OBSL1_ENST00000265318.4_5'Flank	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	44					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTGGGGCCCCCCGCGGTGACC	0.687											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000243786.2																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(130-132)cCc>cTc		inhibin, alpha							17.0	20.0	19.0					2																	220437227		2200	4297	6497	SO:0001583	missense	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220437227C>T		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.131C>T	2.37:g.220437227C>T	ENSP00000243786:p.Pro44Leu		OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	INHA_ENST00000489456.1_Intron	p.P44L	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	1	311	+		Renal(207;0.0183)	44					A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	c.131C>T	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968691	0.53614	.	.	ENSG00000123999	ENST00000243786	D	0.86562	-2.14	4.99	4.99	0.66335	.	0.120124	0.56097	D	0.000031	D	0.88640	0.6491	M	0.86502	2.82	0.80722	D	1	D	0.53312	0.959	B	0.43623	0.425	D	0.87518	0.2444	10	0.09590	T	0.72	-19.6904	18.4881	0.90836	0.0:1.0:0.0:0.0	.	44	P05111	INHA_HUMAN	L	44	ENSP00000243786:P44L	ENSP00000243786:P44L	P	+	2	0	INHA	220145471	0.949000	0.32298	0.842000	0.33263	0.060000	0.15804	4.057000	0.57455	2.604000	0.88044	0.555000	0.69702	CCC		0.687	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			3	15	0	0	0	1	0	3	15				
DNAJC11	55735	broad.mit.edu	37	1	6727854	6727854	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:6727854C>T	ENST00000377577.5	-	4	416	c.293G>A	c.(292-294)aGa>aAa	p.R98K	DNAJC11_ENST00000294401.7_Missense_Mutation_p.R98K|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R60K|DNAJC11_ENST00000349363.6_Missense_Mutation_p.R60K|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R8K	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	98						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				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)		AGCAGGGGTTCTCCTCCTTTC	0.512																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(292-294)aGa>aAa		DnaJ (Hsp40) homolog, subfamily C, member 11							66.0	63.0	64.0					1																	6727854		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727854C>T	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.293G>A	1.37:g.6727854C>T	ENSP00000366800:p.Arg98Lys					DNAJC11_ENST00000377573.5_Missense_Mutation_p.R8K|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R60K|DNAJC11_ENST00000349363.6_Missense_Mutation_p.R60K|DNAJC11_ENST00000294401.7_Missense_Mutation_p.R98K	p.R98K	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		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)	4	416	-	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)	98					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.293G>A	CCDS87.1	.	.	.	.	.	.	.	.	.	.	c	14.29	2.491212	0.44249	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T;T;T	0.27557	2.64;1.99;1.66;2.63;2.51;2.25;2.54	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	L	0.28274	0.84	0.58432	D	0.999999	B;B;B;B	0.33448	0.412;0.048;0.029;0.036	B;B;B;B	0.31686	0.134;0.034;0.076;0.067	T	0.04090	-1.0978	10	0.02654	T	1	-17.5194	18.8701	0.92309	0.0:1.0:0.0:0.0	.	8;74;98;98	B4DGD5;Q5TH61;Q9NVH1-3;Q9NVH1	.;.;.;DJC11_HUMAN	K	98;74;60;98;60;8;98	ENSP00000366800:R98K;ENSP00000415871:R74K;ENSP00000326304:R60K;ENSP00000294401:R98K;ENSP00000444020:R60K;ENSP00000366796:R8K;ENSP00000410194:R98K	ENSP00000294401:R98K	R	-	2	0	DNAJC11	6650441	1.000000	0.71417	0.964000	0.40570	0.823000	0.46562	7.090000	0.76916	2.687000	0.91594	0.651000	0.88453	AGA		0.512	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		19	12	0	0	0	1	0	19	12				
NLRC5	84166	broad.mit.edu	37	16	57115520	57115520	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:57115520C>T	ENST00000262510.6	+	48	5712	c.5487C>T	c.(5485-5487)atC>atT	p.I1829I	NLRC5_ENST00000539144.1_Silent_p.I1800I|NLRC5_ENST00000308149.7_Silent_p.I1800I|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1829					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCCAAGTCATCCGGTAACAGA	0.622																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5485-5487)atC>atT		NLR family, CARD domain containing 5							87.0	91.0	90.0					16																	57115520		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57115520C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5487C>T	16.37:g.57115520C>T						NLRC5_ENST00000308149.7_Silent_p.I1800I|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Silent_p.I1800I	p.I1829I	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			48	5712	+		all_neural(199;0.225)	1829					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.5487C>T	CCDS10773.1																																																																																				0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		15	100	0	0	0	1	0	15	100				
GPR85	54329	broad.mit.edu	37	7	112724657	112724657	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:112724657C>T	ENST00000297146.3	-	3	723	c.120G>A	c.(118-120)ctG>ctA	p.L40L	GPR85_ENST00000449591.1_Silent_p.L40L|GPR85_ENST00000424100.1_Silent_p.L40L|GPR85_ENST00000501255.2_Silent_p.L40L|GPR85_ENST00000487573.1_5'Flank	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	40					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AAATGGAGATCAGGAGGTTGC	0.433																																						ENST00000501255.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(118-120)ctG>ctA		G protein-coupled receptor 85							98.0	95.0	96.0					7																	112724657		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724657C>T	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.120G>A	7.37:g.112724657C>T						GPR85_ENST00000449591.1_Silent_p.L40L|GPR85_ENST00000424100.1_Silent_p.L40L|GPR85_ENST00000297146.2_Silent_p.L40L	p.L40L	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN			3	743	-			40					Q9JHI6|Q9NPD1	Silent	SNP	ENST00000297146.3	37	c.120G>A	CCDS5758.1																																																																																				0.433	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			23	64	0	0	0	1	0	23	64				
ABHD17C	58489	broad.mit.edu	37	15	80988289	80988289	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:80988289C>T	ENST00000258884.4	+	1	646	c.519C>T	c.(517-519)gtC>gtT	p.V173V	RP11-28H5.2_ENST00000607458.1_lincRNA|ABHD17C_ENST00000558464.1_Silent_p.V173V|ABHD17C_ENST00000560609.1_Intron	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	173							hydrolase activity (GO:0016787)										GATACGGCGTCAGCTCGGGCA	0.657																																						ENST00000258884.4																			0											c.(517-519)gtC>gtT		abhydrolase domain containing 17C							16.0	13.0	14.0					15																	80988289		2192	4270	6462	SO:0001819	synonymous_variant	58489							g.chr15:80988289C>T		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.519C>T	15.37:g.80988289C>T						ABHD17C_ENST00000560609.1_Intron|ABHD17C_ENST00000558464.1_Silent_p.V173V	p.V173V	NM_021214.1	NP_067037.1					1	646	+								Q1RMD6|Q9NPM1	Silent	SNP	ENST00000258884.4	37	c.519C>T	CCDS45323.1																																																																																				0.657	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		3	14	0	0	0	1	0	3	14				
PPP1R36	145376	broad.mit.edu	37	14	65032346	65032346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:65032346G>A	ENST00000298705.1	+	6	466	c.370G>A	c.(370-372)Gtt>Att	p.V124I	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	124					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CTTTTCAGTTGTTACTTTGCT	0.353																																						ENST00000298705.1																			0											c.(370-372)Gtt>Att		protein phosphatase 1, regulatory subunit 36							246.0	182.0	204.0					14																	65032346		2203	4300	6503	SO:0001583	missense	145376							g.chr14:65032346G>A		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.370G>A	14.37:g.65032346G>A	ENSP00000298705:p.Val124Ile					RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	p.V124I	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN			6	466	+			124					Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	c.370G>A	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335346	0.60853	.	.	ENSG00000165807	ENST00000298705	T	0.32272	1.46	5.66	5.66	0.87406	.	0.259409	0.27249	N	0.020226	T	0.50222	0.1603	M	0.67953	2.075	0.29681	N	0.841681	D	0.65815	0.995	P	0.59643	0.861	T	0.52624	-0.8551	10	0.62326	D	0.03	-18.6729	15.2579	0.73599	0.0:0.0:1.0:0.0	.	124	Q96LQ0	PPR36_HUMAN	I	124	ENSP00000298705:V124I	ENSP00000298705:V124I	V	+	1	0	C14orf50	64102099	1.000000	0.71417	0.998000	0.56505	0.099000	0.18886	3.533000	0.53561	2.657000	0.90304	0.655000	0.94253	GTT		0.353	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		6	57	0	0	0	1	0	6	57				
GDI1	2664	broad.mit.edu	37	X	153670114	153670114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153670114C>T	ENST00000447750.2	+	8	1299	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	GDI1_ENST00000465640.1_3'UTR|FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	322					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					AATAATCATCCCCCAGAACCA	0.547																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(964-966)Ccc>Tcc		GDP dissociation inhibitor 1							128.0	111.0	117.0					X																	153670114		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153670114C>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.964C>T	X.37:g.153670114C>T	ENSP00000394071:p.Pro322Ser					GDI1_ENST00000465640.1_3'UTR	p.P322S	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			8	1299	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		322					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.964C>T	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816935	0.90790	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.59772	0.24	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.80909	0.4714	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.85575	0.1236	10	0.87932	D	0	-11.35	15.3157	0.74074	0.0:1.0:0.0:0.0	.	322	P31150	GDIA_HUMAN	S	322;306	ENSP00000394071:P322S	ENSP00000358756:P306S	P	+	1	0	GDI1	153323308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.207000	0.71202	0.436000	0.28706	CCC		0.547	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		31	67	0	0	0	1	0	31	67				
MEFV	4210	broad.mit.edu	37	16	3294498	3294498	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:3294498C>T	ENST00000219596.1	-	7	1740	c.1701G>A	c.(1699-1701)gtG>gtA	p.V567V	MEFV_ENST00000536379.1_Silent_p.V356V|MEFV_ENST00000339854.4_Silent_p.V387V|MEFV_ENST00000541159.1_Silent_p.V356V	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	567	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TGCTCTTCTCCACAAACTCTG	0.493																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1699-1701)gtG>gtA		Mediterranean fever	Colchicine(DB01394)						175.0	158.0	164.0					16																	3294498		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3294498C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1701G>A	16.37:g.3294498C>T						MEFV_ENST00000536379.1_Silent_p.V356V|MEFV_ENST00000339854.4_Silent_p.V387V|MEFV_ENST00000541159.1_Silent_p.V356V	p.V567V	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			7	1740	-			567					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1701G>A	CCDS10498.1																																																																																				0.493	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		10	143	0	0	0	1	0	10	143				
VGLL3	389136	broad.mit.edu	37	3	87027886	87027886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:87027886C>T	ENST00000398399.2	-	2	556	c.193G>A	c.(193-195)Gag>Aag	p.E65K	VGLL3_ENST00000383698.3_Missense_Mutation_p.E65K	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		tcatcctcctcctcTTGTTTG	0.483																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(193-195)Gag>Aag		vestigial like 3 (Drosophila)							53.0	55.0	54.0					3																	87027886		2068	4222	6290	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027886C>T	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.193G>A	3.37:g.87027886C>T	ENSP00000381436:p.Glu65Lys					VGLL3_ENST00000383698.3_Missense_Mutation_p.E65K	p.E65K	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	556	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	65						Missense_Mutation	SNP	ENST00000398399.2	37	c.193G>A	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848939	0.32699	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.46063	0.89;0.88	5.14	5.14	0.70334	.	0.573874	0.17623	N	0.167641	T	0.48447	0.1500	N	0.19112	0.55	0.52099	D	0.999947	D	0.69078	0.997	D	0.75020	0.985	T	0.30297	-0.9983	10	0.11485	T	0.65	-9.148	18.6123	0.91290	0.0:1.0:0.0:0.0	.	65	A8MV65	VGLL3_HUMAN	K	65	ENSP00000381436:E65K;ENSP00000373199:E65K	ENSP00000373199:E65K	E	-	1	0	VGLL3	87110576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.231000	0.65327	2.391000	0.81399	0.655000	0.94253	GAG		0.483	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		8	22	0	0	0	1	0	8	22				
UGT2A3	79799	broad.mit.edu	37	4	69811172	69811172	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69811172C>T	ENST00000251566.4	-	2	746	c.716G>A	c.(715-717)gGa>gAa	p.G239E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	239					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTGGGCCTTCCTCAATAAAA	0.299																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e2-1		UDP glucuronosyltransferase 2 family, polypeptide A3							70.0	68.0	68.0					4																	69811172		2203	4300	6503	SO:0001630	splice_region_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69811172C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.716-1G>A	4.37:g.69811172C>T						UGT2A3_ENST00000420231.2_5'UTR	p.G239_splice	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			2	746	-			239					Q9H6S4	Splice_Site	SNP	ENST00000251566.4	37	c.715_splice	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116638	0.56505	.	.	ENSG00000135220	ENST00000251566	T	0.59906	0.23	3.09	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80839	-0.1203	10	0.66056	D	0.02	.	11.9388	0.52888	0.0:1.0:0.0:0.0	.	239	Q6UWM9	UD2A3_HUMAN	E	239	ENSP00000251566:G239E	ENSP00000251566:G239E	G	-	2	0	UGT2A3	69845761	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	4.116000	0.57871	1.712000	0.51347	0.484000	0.47621	GGA		0.299	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	Missense_Mutation	17	53	0	0	0	1	0	17	53				
ANK2	287	broad.mit.edu	37	4	114214681	114214681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:114214681C>T	ENST00000357077.4	+	22	2515	c.2462C>T	c.(2461-2463)aCc>aTc	p.T821I	ANK2_ENST00000264366.6_Missense_Mutation_p.T821I|ANK2_ENST00000506722.1_Missense_Mutation_p.T800I|ANK2_ENST00000394537.3_Missense_Mutation_p.T821I|ANK2_ENST00000509550.1_Missense_Mutation_p.T30I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	821					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)			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)		GAGGAGGTCACCACCACCACC	0.473																																						ENST00000357077.4																			0				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						c.(2461-2463)aCc>aTc		ankyrin 2, neuronal							130.0	115.0	120.0					4																	114214681		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114214681C>T	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.2462C>T	4.37:g.114214681C>T	ENSP00000349588:p.Thr821Ile					ANK2_ENST00000394537.3_Missense_Mutation_p.T821I|ANK2_ENST00000509550.1_Missense_Mutation_p.T30I|ANK2_ENST00000264366.6_Missense_Mutation_p.T821I|ANK2_ENST00000506722.1_Missense_Mutation_p.T800I	p.T821I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	22	2515	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	821					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2462C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363130	0.41902	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.75589	-0.07;0.05;-0.17;-0.07;-0.16;-0.17;-0.22;-0.95	5.14	5.14	0.70334	Ankyrin repeat-containing domain (1);	0.000000	0.53938	D	0.000058	T	0.47116	0.1428	N	0.01729	-0.75	0.80722	D	1	B;B;B;B;B;B	0.24368	0.005;0.078;0.0;0.076;0.001;0.102	B;B;B;B;B;B	0.22753	0.002;0.028;0.006;0.041;0.004;0.033	T	0.49579	-0.8925	10	0.39692	T	0.17	.	9.3905	0.38370	0.0:0.8413:0.0:0.1587	.	30;821;821;821;800;800	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	I	800;767;800;836;821;821;821;800;30	ENSP00000423799:T800I;ENSP00000421011:T767I;ENSP00000421067:T800I;ENSP00000424722:T836I;ENSP00000378044:T821I;ENSP00000349588:T821I;ENSP00000264366:T821I;ENSP00000426944:T30I	ENSP00000264366:T821I	T	+	2	0	ANK2	114434130	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.074000	0.57577	2.378000	0.81104	0.655000	0.94253	ACC		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		12	25	0	0	0	1	0	12	25				
GPR45	11250	broad.mit.edu	37	2	105858978	105858978	+	Silent	SNP	G	G	A	rs141451236		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:105858978G>A	ENST00000258456.1	+	1	779	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCTCAACACGGTCCGCAAGA	0.677																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(661-663)acG>acA		G protein-coupled receptor 45		G		0,4406		0,0,2203	61.0	60.0	60.0		663	-5.5	0.7	2	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR45	NM_007227.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		221/373	105858978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858978G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.663G>A	2.37:g.105858978G>A							p.T221T	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	779	+			221					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.663G>A	CCDS2066.1																																																																																				0.677	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		8	60	0	0	0	1	0	8	60				
AP1G2	8906	broad.mit.edu	37	14	24035776	24035776	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24035776G>A	ENST00000308724.5	-	2	1079	c.324C>T	c.(322-324)atC>atT	p.I108I	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Silent_p.I108I	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	108					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTCACTTCTTGATGCTGTTGG	0.537																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(322-324)atC>atT		adaptor-related protein complex 1, gamma 2 subunit							237.0	234.0	235.0					14																	24035776		2203	4300	6503	SO:0001819	synonymous_variant	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24035776G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.324C>T	14.37:g.24035776G>A						RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Silent_p.I108I|AP1G2_ENST00000556277.1_5'UTR	p.I108I	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	2	1079	-	all_cancers(95;0.000251)		108					D3DS51|O75504	Silent	SNP	ENST00000308724.5	37	c.324C>T	CCDS9602.1																																																																																				0.537	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		100	121	0	0	0	1	0	100	121				
MED12	9968	broad.mit.edu	37	X	70342717	70342717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70342717G>A	ENST00000374080.3	+	10	1510	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	MED12_ENST00000374102.1_Missense_Mutation_p.G493E|MED12_ENST00000333646.6_Missense_Mutation_p.G493E			Q93074	MED12_HUMAN	mediator complex subunit 12	493					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCAAGGATGGGCATGAGGTA	0.458			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(1477-1479)gGg>gAg		mediator complex subunit 12							84.0	69.0	74.0					X																	70342717		1959	4138	6097	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70342717G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1478G>A	X.37:g.70342717G>A	ENSP00000363193:p.Gly493Glu					MED12_ENST00000374102.1_Missense_Mutation_p.G493E|MED12_ENST00000374080.3_Missense_Mutation_p.G493E	p.G493E	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			10	1677	+	Renal(35;0.156)		493					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1478G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	15.24	2.776076	0.49786	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	4.98	4.98	0.66077	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.118294	0.56097	D	0.000023	T	0.33206	0.0855	L	0.44542	1.39	0.48762	D	0.999707	B;P;P;B	0.47484	0.27;0.896;0.597;0.452	B;P;B;B	0.45276	0.209;0.475;0.209;0.314	T	0.04347	-1.0958	10	0.34782	T	0.22	-11.6646	17.4831	0.87679	0.0:0.0:1.0:0.0	.	493;340;493;493	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	E	493;493;493;493;461	ENSP00000333125:G493E;ENSP00000363215:G493E;ENSP00000363193:G493E;ENSP00000414203:G461E	ENSP00000333125:G493E	G	+	2	0	MED12	70259442	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.004000	0.76317	2.312000	0.78011	0.509000	0.49947	GGG		0.458	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		25	49	0	0	0	1	0	25	49				
PSD2	84249	broad.mit.edu	37	5	139219719	139219719	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139219719G>A	ENST00000274710.3	+	14	2281	c.2076G>A	c.(2074-2076)gaG>gaA	p.E692E		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	692					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGGCCGAGGAGTACCGGT	0.582																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(2074-2076)gaG>gaA		pleckstrin and Sec7 domain containing 2							129.0	116.0	121.0					5																	139219719		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139219719G>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.2076G>A	5.37:g.139219719G>A							p.E692E	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	2281	+			692					D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.2076G>A	CCDS4216.1																																																																																				0.582	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		4	83	0	0	0	1	0	4	83				
NR1H3	10062	broad.mit.edu	37	11	47283127	47283127	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47283127C>T	ENST00000467728.1	+	5	1976	c.738C>T	c.(736-738)agC>agT	p.S246S	NR1H3_ENST00000481889.2_Silent_p.S201S|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000441012.2_Silent_p.S246S|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000395397.3_Silent_p.S201S|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	246	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						ATCCCCATAGCCGGGAGGCCC	0.592																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(736-738)agC>agT		nuclear receptor subfamily 1, group H, member 3							60.0	61.0	61.0					11																	47283127		2201	4298	6499	SO:0001819	synonymous_variant	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47283127C>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.738C>T	11.37:g.47283127C>T						NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000395397.3_Silent_p.S201S|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Silent_p.S246S|NR1H3_ENST00000481889.2_Silent_p.S201S|NR1H3_ENST00000407404.1_Intron	p.S246S			Q13133	NR1H3_HUMAN			5	1976	+			246			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	ENST00000467728.1	37	c.738C>T	CCDS7929.1																																																																																				0.592	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			5	55	0	0	0	1	0	5	55				
NCKAP5	344148	broad.mit.edu	37	2	133540216	133540216	+	Missense_Mutation	SNP	C	C	T	rs372843136		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:133540216C>T	ENST00000409261.1	-	14	4541	c.4168G>A	c.(4168-4170)Gcc>Acc	p.A1390T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1390T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1390										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGGTGAAGGCCTGCTGGTCT	0.597																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4168-4170)Gcc>Acc		NCK-associated protein 5		C	THR/ALA,	0,4006		0,0,2003	47.0	51.0	49.0		4168,	-4.1	0.0	2		49	1,8307		0,1,4153	no	missense,intron	NCKAP5	NM_207363.2,NM_207481.3	58,	0,1,6156	TT,TC,CC		0.012,0.0,0.0081	benign,	1390/1910,	133540216	1,12313	2003	4154	6157	SO:0001583	missense	344148						protein binding	g.chr2:133540216C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4168G>A	2.37:g.133540216C>T	ENSP00000387128:p.Ala1390Thr					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1390T|NCKAP5_ENST00000409213.1_Intron	p.A1390T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4541	-			1390					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4168G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.131353	0.01756	0.0	1.2E-4	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10288	2.89;2.89	5.23	-4.12	0.03916	.	1.645620	0.04470	U	0.375842	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	0.999999	B	0.11235	0.004	B	0.10450	0.005	T	0.37526	-0.9702	10	0.14252	T	0.57	.	0.3975	0.00421	0.2969:0.1434:0.1869:0.3728	.	1390	O14513	NCKP5_HUMAN	T	1390	ENSP00000387128:A1390T;ENSP00000380603:A1390T	ENSP00000380603:A1390T	A	-	1	0	NCKAP5	133256686	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.962000	0.03841	-0.606000	0.05746	-0.251000	0.11542	GCC		0.597	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		24	40	0	0	0	1	0	24	40				
RNF32	140545	broad.mit.edu	37	7	156468416	156468416	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:156468416G>A	ENST00000405335.1	+	9	1120	c.711G>A	c.(709-711)ctG>ctA	p.L237L	LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000432459.2_Silent_p.L237L|RNF32_ENST00000392743.2_Silent_p.L237L|RNF32_ENST00000311822.8_Silent_p.L237L|RNF32_ENST00000317955.5_Silent_p.L237L|RNF32_ENST00000343665.4_Silent_p.L213L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	237						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACCGCATCCTGTGCTCATACA	0.532																																						ENST00000405335.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(709-711)ctG>ctA		ring finger protein 32							117.0	116.0	116.0					7																	156468416		2203	4300	6503	SO:0001819	synonymous_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156468416G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.711G>A	7.37:g.156468416G>A						RNF32_ENST00000317955.5_Silent_p.L237L|RNF32_ENST00000311822.8_Silent_p.L237L|RNF32_ENST00000343665.4_Silent_p.L213L|RNF32_ENST00000432459.2_Silent_p.L237L|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000392743.2_Silent_p.L237L	p.L237L			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	9	1120	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	237					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	37	c.711G>A	CCDS5944.1																																																																																				0.532	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		17	61	0	0	0	1	0	17	61				
CLEC16A	23274	broad.mit.edu	37	16	11219860	11219860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:11219860C>T	ENST00000409790.1	+	22	2728	c.2498C>T	c.(2497-2499)cCc>cTc	p.P833L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.P815L|CLEC16A_ENST00000381822.2_5'Flank	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAATCCAGCCCACCACTGAA	0.627																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2497-2499)cCc>cTc		C-type lectin domain family 16, member A							169.0	181.0	177.0					16																	11219860		1986	4165	6151	SO:0001583	missense	23274							g.chr16:11219860C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2498C>T	16.37:g.11219860C>T	ENSP00000387122:p.Pro833Leu					CLEC16A_ENST00000409552.3_Missense_Mutation_p.P815L	p.P833L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			22	2728	+			833						Missense_Mutation	SNP	ENST00000409790.1	37	c.2498C>T	CCDS45409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.392196|4.392196	0.83011|0.83011	.|.	.|.	ENSG00000038532|ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552;ENST00000436973|ENST00000428742	T|.	0.42900|.	0.96|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67078|0.67078	0.2855|0.2855	L|L	0.41079|0.41079	1.255|1.255	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	T|T	0.61083|0.61083	-0.7134|-0.7134	10|6	0.05721|.	T|.	0.95|.	-17.1007|-17.1007	19.1456|19.1456	0.93467|0.93467	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	833;815|.	Q2KHT3;Q2KHT3-2|.	CL16A_HUMAN;.|.	L|S	833;833;815;26|77	ENSP00000387122:P833L|.	ENSP00000386495:P815L|.	P|P	+|+	2|1	0|0	CLEC16A|CLEC16A	11127361|11127361	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.360000|0.360000	0.29518|0.29518	7.441000|7.441000	0.80485|0.80485	2.763000|2.763000	0.94921|0.94921	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.627	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		12	210	0	0	0	1	0	12	210				
ZNF182	7569	broad.mit.edu	37	X	47836929	47836929	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:47836929C>T	ENST00000396965.1	-	7	907	c.557G>A	c.(556-558)gGa>gAa	p.G186E	ZNF182_ENST00000305127.6_Missense_Mutation_p.G186E|ZNF182_ENST00000376943.3_Missense_Mutation_p.G167E	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTTGCACATCCATTATCATA	0.333																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(556-558)gGa>gAa		zinc finger protein 182							63.0	57.0	59.0					X																	47836929		2203	4299	6502	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836929C>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.557G>A	X.37:g.47836929C>T	ENSP00000380165:p.Gly186Glu					ZNF182_ENST00000305127.6_Missense_Mutation_p.G186E|ZNF182_ENST00000376943.3_Missense_Mutation_p.G167E	p.G186E	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	907	-			186					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.557G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.784905	0.00078	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06528	3.29;3.29;3.29	3.87	2.1	0.27182	.	.	.	.	.	T	0.01905	0.0060	N	0.01640	-0.785	0.29133	N	0.879491	B;B;B	0.12013	0.004;0.005;0.001	B;B;B	0.15870	0.014;0.003;0.003	T	0.44862	-0.9300	9	0.02654	T	1	.	7.2269	0.26020	0.0:0.7683:0.0:0.2317	.	166;167;186	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	E	167;186;186	ENSP00000366142:G167E;ENSP00000380165:G186E;ENSP00000306351:G186E	ENSP00000306351:G186E	G	-	2	0	ZNF182	47721873	0.000000	0.05858	0.933000	0.37362	0.278000	0.26855	-0.170000	0.09897	0.438000	0.26450	0.594000	0.82650	GGA		0.333	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		8	70	0	0	0	1	0	8	70				
SPNS2	124976	broad.mit.edu	37	17	4434074	4434074	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4434074G>A	ENST00000329078.3	+	4	931	c.721G>A	c.(721-723)Ggc>Agc	p.G241S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	241					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CATCCCACTGGGCAGGTGAGA	0.602																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(721-723)Ggc>Agc		spinster homolog 2 (Drosophila)							57.0	50.0	52.0					17																	4434074		1568	3582	5150	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4434074G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.721G>A	17.37:g.4434074G>A	ENSP00000333292:p.Gly241Ser						p.G241S	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			4	931	+			241					B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.721G>A	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264610	0.95399	.	.	ENSG00000183018	ENST00000329078	T	0.76578	-1.03	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.127918	0.52532	D	0.000071	D	0.89079	0.6613	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91402	0.5144	10	0.87932	D	0	.	15.7728	0.78184	0.0:0.0:1.0:0.0	.	241	Q8IVW8	SPNS2_HUMAN	S	241	ENSP00000333292:G241S	ENSP00000333292:G241S	G	+	1	0	SPNS2	4380823	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.944000	0.87722	2.130000	0.65690	0.561000	0.74099	GGC		0.602	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			6	24	0	0	0	1	0	6	24				
BICD2	23299	broad.mit.edu	37	9	95481636	95481636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:95481636C>T	ENST00000375512.3	-	5	1358	c.1291G>A	c.(1291-1293)Ggg>Agg	p.G431R	BICD2_ENST00000356884.6_Missense_Mutation_p.G431R	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	431					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCTCAGGCCCGTTGATGTCC	0.642																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1291-1293)Ggg>Agg		bicaudal D homolog 2 (Drosophila)							139.0	110.0	120.0					9																	95481636		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481636C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1291G>A	9.37:g.95481636C>T	ENSP00000364662:p.Gly431Arg					BICD2_ENST00000375512.3_Missense_Mutation_p.G431R	p.G431R	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1358	-			431					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1291G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670791	0.88348	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.54866	0.55;0.55	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60667	-0.7218	10	0.18276	T	0.48	-68.9516	16.6104	0.84881	0.0:1.0:0.0:0.0	.	431;431	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	R	431	ENSP00000349351:G431R;ENSP00000364662:G431R	ENSP00000349351:G431R	G	-	1	0	BICD2	94521457	1.000000	0.71417	0.952000	0.39060	0.923000	0.55619	5.972000	0.70448	2.605000	0.88082	0.561000	0.74099	GGG		0.642	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		22	29	0	0	0	1	0	22	29				
HS1BP3	64342	broad.mit.edu	37	2	20840754	20840754	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:20840754G>A	ENST00000304031.3	-	3	410	c.385C>T	c.(385-387)Cca>Tca	p.P129S	HS1BP3_ENST00000402541.1_Missense_Mutation_p.P129S|HS1BP3_ENST00000406618.3_Missense_Mutation_p.P129S	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	129	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGCTCTGGGCTGCCTGCC	0.617																																						ENST00000402541.1																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(385-387)Cca>Tca		HCLS1 binding protein 3							118.0	122.0	121.0					2																	20840754		2203	4300	6503	SO:0001583	missense	64342				cell communication		phosphatidylinositol binding	g.chr2:20840754G>A		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.385C>T	2.37:g.20840754G>A	ENSP00000305193:p.Pro129Ser					HS1BP3_ENST00000304031.3_Missense_Mutation_p.P129S|HS1BP3_ENST00000406618.3_Missense_Mutation_p.P129S	p.P129S			Q53T59	H1BP3_HUMAN			3	399	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		129			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	ENST00000304031.3	37	c.385C>T	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781520	0.90282	.	.	ENSG00000118960	ENST00000304031;ENST00000402541;ENST00000406618	T;T;T	0.38240	1.15;1.15;1.15	4.65	4.65	0.58169	Phox homologous domain (5);	0.000000	0.64402	D	0.000001	T	0.56529	0.1991	L	0.54323	1.7	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.91635	0.999;0.988;0.913	T	0.59166	-0.7505	10	0.54805	T	0.06	-10.6638	17.5538	0.87885	0.0:0.0:1.0:0.0	.	129;129;129	B5MC96;F6TR53;Q53T59	.;.;H1BP3_HUMAN	S	129	ENSP00000305193:P129S;ENSP00000384984:P129S;ENSP00000385788:P129S	ENSP00000305193:P129S	P	-	1	0	HS1BP3	20704235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.166000	0.64965	2.121000	0.65114	0.561000	0.74099	CCA		0.617	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		11	74	0	0	0	1	0	11	74				
DYNC1H1	1778	broad.mit.edu	37	14	102506659	102506659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:102506659G>A	ENST00000360184.4	+	63	11941	c.11777G>A	c.(11776-11778)gGc>gAc	p.G3926D	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3926					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGATCCAGGGCCTGACTGTG	0.577																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(11776-11778)gGc>gAc		dynein, cytoplasmic 1, heavy chain 1							68.0	71.0	70.0					14																	102506659		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102506659G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11777G>A	14.37:g.102506659G>A	ENSP00000348965:p.Gly3926Asp					RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.G3926D	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			63	11941	+			3926					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.11777G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789192	0.70337	.	.	ENSG00000197102	ENST00000360184	T	0.08546	3.08	5.82	5.82	0.92795	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.12860	0.0312	L	0.46947	1.48	0.80722	D	1	B	0.20368	0.044	B	0.24701	0.055	T	0.04078	-1.0979	10	0.54805	T	0.06	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	3926	Q14204	DYHC1_HUMAN	D	3926	ENSP00000348965:G3926D	ENSP00000348965:G3926D	G	+	2	0	DYNC1H1	101576412	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.869000	0.99810	2.761000	0.94854	0.655000	0.94253	GGC		0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		16	29	0	0	0	1	0	16	29				
MAPK8IP3	23162	broad.mit.edu	37	16	1810397	1810397	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1810397G>A	ENST00000250894.4	+	12	1475	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V434M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	440					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)			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						CTTGAATGTGGTGAAGAATGA	0.587																																						ENST00000250894.4																			0				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						c.(1318-1320)Gtg>Atg		mitogen-activated protein kinase 8 interacting protein 3							94.0	100.0	98.0					16																	1810397		2040	4186	6226	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1810397G>A	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.1318G>A	16.37:g.1810397G>A	ENSP00000250894:p.Val440Met					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V434M	p.V440M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			12	1475	+			440					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1318G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715139	0.68844	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.54675	0.56;0.57	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.993;0.998	T	0.78745	-0.2084	10	0.87932	D	0	-30.4798	18.9294	0.92558	0.0:0.0:1.0:0.0	.	441;434;440	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	M	440;434	ENSP00000250894:V440M;ENSP00000348290:V434M	ENSP00000250894:V440M	V	+	1	0	MAPK8IP3	1750398	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	9.780000	0.99024	2.571000	0.86741	0.561000	0.74099	GTG		0.587	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		28	44	0	0	0	1	0	28	44				
CABP7	164633	broad.mit.edu	37	22	30123755	30123755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:30123755G>A	ENST00000216144.3	+	2	555	c.214G>A	c.(214-216)Gtg>Atg	p.V72M		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			GCCCAACGAGGTGGAGCTGGA	0.642																																						ENST00000216144.3																			0				lung(1)|skin(3)	4						c.(214-216)Gtg>Atg		calcium binding protein 7							98.0	80.0	86.0					22																	30123755		2203	4300	6503	SO:0001583	missense	164633					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr22:30123755G>A	BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"""EF-hand domain containing"""	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.214G>A	22.37:g.30123755G>A	ENSP00000216144:p.Val72Met						p.V72M	NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)		2	555	+			72			EF-hand 2.			Missense_Mutation	SNP	ENST00000216144.3	37	c.214G>A	CCDS13867.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423488	0.62733	.	.	ENSG00000100314	ENST00000216144	T	0.71341	-0.56	5.59	5.59	0.84812	EF-hand-like domain (1);	0.116331	0.64402	D	0.000019	T	0.78666	0.4319	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80580	-0.1319	10	0.87932	D	0	-21.7903	18.1409	0.89639	0.0:0.0:1.0:0.0	.	72	Q86V35	CABP7_HUMAN	M	72	ENSP00000216144:V72M	ENSP00000216144:V72M	V	+	1	0	CABP7	28453755	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.916000	0.87491	2.631000	0.89168	0.561000	0.74099	GTG		0.642	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527		4	65	0	0	0	1	0	4	65				
YLPM1	56252	broad.mit.edu	37	14	75230527	75230527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75230527G>A	ENST00000552421.1	+	1	459	c.335G>A	c.(334-336)gGg>gAg	p.G112E	YLPM1_ENST00000325680.7_Missense_Mutation_p.G112E|YLPM1_ENST00000238571.3_Missense_Mutation_p.G112E			P49750	YLPM1_HUMAN	YLP motif containing 1	112	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCGCCACCCGGGCCGGCCCTC	0.682																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(334-336)gGg>gAg		YLP motif containing 1							40.0	48.0	45.0					14																	75230527		1910	4107	6017	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230527G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.335G>A	14.37:g.75230527G>A	ENSP00000447921:p.Gly112Glu					YLPM1_ENST00000238571.3_Missense_Mutation_p.G112E|YLPM1_ENST00000552421.1_Missense_Mutation_p.G112E	p.G112E	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	459	+			112			Pro-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.335G>A		.	.	.	.	.	.	.	.	.	.	G	8.154	0.787973	0.16258	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.21543	2.0;2.0;2.0	4.74	3.84	0.44239	.	0.204155	0.34676	N	0.003763	T	0.12433	0.0302	N	0.14661	0.345	0.09310	N	0.999998	P	0.44429	0.835	P	0.47645	0.553	T	0.13415	-1.0510	10	0.02654	T	1	-4.9057	7.6798	0.28507	0.0:0.156:0.5447:0.2992	.	112	P49750-4	.	E	112	ENSP00000447921:G112E;ENSP00000324463:G112E;ENSP00000238571:G112E	ENSP00000238571:G112E	G	+	2	0	YLPM1	74300280	0.998000	0.40836	0.943000	0.38184	0.715000	0.41141	2.256000	0.43231	1.212000	0.43366	-0.188000	0.12872	GGG		0.682	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		35	53	0	0	0	1	0	35	53				
SEC16A	9919	broad.mit.edu	37	9	139370930	139370930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139370930C>T	ENST00000371706.3	-	1	637	c.604G>A	c.(604-606)Gag>Aag	p.E202K	SEC16A_ENST00000313050.7_Missense_Mutation_p.E380K|SEC16A_ENST00000431893.2_Missense_Mutation_p.E202K|SEC16A_ENST00000290037.6_Missense_Mutation_p.E202K			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	202					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTTCTGTCTCTCCCCCTTGG	0.582																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1138-1140)Gag>Aag		SEC16 homolog A (S. cerevisiae)							20.0	22.0	22.0					9																	139370930		1897	4120	6017	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139370930C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.604G>A	9.37:g.139370930C>T	ENSP00000360771:p.Glu202Lys					SEC16A_ENST00000290037.6_Missense_Mutation_p.E202K|SEC16A_ENST00000371706.3_Missense_Mutation_p.E202K|SEC16A_ENST00000431893.2_Missense_Mutation_p.E202K	p.E380K	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1211	-		Myeloproliferative disorder(178;0.0511)	202					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.1138G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.795455	0.96952	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.36340	1.27;1.27;1.26;1.27	5.21	5.21	0.72293	.	0.061143	0.64402	D	0.000005	T	0.60090	0.2242	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;P	0.69479	0.946;0.964;0.964;0.877	T	0.62530	-0.6835	10	0.62326	D	0.03	-32.9844	18.1086	0.89528	0.0:1.0:0.0:0.0	.	380;202;202;7	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	K	380;202;202;202;7	ENSP00000325827:E380K;ENSP00000360771:E202K;ENSP00000290037:E202K;ENSP00000387583:E202K	ENSP00000290037:E202K	E	-	1	0	SEC16A	138490751	1.000000	0.71417	0.918000	0.36340	0.991000	0.79684	7.216000	0.77974	2.589000	0.87451	0.655000	0.94253	GAG		0.582	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		12	15	0	0	0	1	0	12	15				
NGLY1	55768	broad.mit.edu	37	3	25777559	25777559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:25777559G>A	ENST00000280700.5	-	7	1245	c.1085C>T	c.(1084-1086)cCa>cTa	p.P362L	NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000467224.1_5'Flank|NGLY1_ENST00000417874.2_Missense_Mutation_p.P320L|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.P362L	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	362					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATAAAGGAGTGGCTTGTCACA	0.403																																						ENST00000280700.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1084-1086)cCa>cTa		N-glycanase 1							57.0	55.0	56.0					3																	25777559		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25777559G>A	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.1085C>T	3.37:g.25777559G>A	ENSP00000280700:p.Pro362Leu					NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.P362L|NGLY1_ENST00000417874.2_Missense_Mutation_p.P320L	p.P362L	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN			7	1245	-			362					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1085C>T	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154341	0.94686	.	.	ENSG00000151092	ENST00000280700;ENST00000396649;ENST00000417874	T;T;T	0.64803	-0.12;-0.12;-0.12	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.90122	0.4200	10	0.87932	D	0	-12.3264	20.1253	0.97977	0.0:0.0:1.0:0.0	.	320;362;362	B4DJE9;Q96IV0-3;Q96IV0	.;.;NGLY1_HUMAN	L	362;362;320	ENSP00000280700:P362L;ENSP00000379886:P362L;ENSP00000389888:P320L	ENSP00000280700:P362L	P	-	2	0	NGLY1	25752563	1.000000	0.71417	0.786000	0.31890	0.937000	0.57800	9.799000	0.99117	2.832000	0.97577	0.655000	0.94253	CCA		0.403	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			32	46	0	0	0	1	0	32	46				
KIF20B	9585	broad.mit.edu	37	10	91497470	91497470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:91497470G>A	ENST00000371728.3	+	20	2937	c.2872G>A	c.(2872-2874)Gag>Aag	p.E958K	KIF20B_ENST00000394289.2_Missense_Mutation_p.E958K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E918K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.E988K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	958					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)			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						TCAAGAACAGGAGGAAAAGAT	0.289																																						ENST00000416354.1																			0				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						c.(2962-2964)Gag>Aag		kinesin family member 20B							57.0	61.0	59.0					10																	91497470		2186	4292	6478	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91497470G>A	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.2872G>A	10.37:g.91497470G>A	ENSP00000360793:p.Glu958Lys					KIF20B_ENST00000394289.2_Missense_Mutation_p.E958K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E918K|KIF20B_ENST00000371728.3_Missense_Mutation_p.E958K|KIF20B_ENST00000478929.1_3'UTR	p.E988K			Q96Q89	KI20B_HUMAN			20	3034	+			958					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.2962G>A		.	.	.	.	.	.	.	.	.	.	G	8.226	0.803620	0.16467	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.70282	-0.38;-0.38;-0.47;-0.4	5.8	2.94	0.34122	.	0.638895	0.14516	N	0.314755	T	0.56543	0.1992	L	0.38531	1.155	0.25865	N	0.983777	B;B	0.14805	0.007;0.011	B;B	0.16289	0.006;0.015	T	0.37267	-0.9713	10	0.11182	T	0.66	-0.0354	10.2859	0.43566	0.2144:0.0:0.7856:0.0	.	958;918	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	918;988;958;958	ENSP00000260753:E918K;ENSP00000411545:E988K;ENSP00000377830:E958K;ENSP00000360793:E958K	ENSP00000260753:E918K	E	+	1	0	KIF20B	91487450	0.996000	0.38824	0.961000	0.40146	0.293000	0.27360	1.366000	0.34193	0.359000	0.24239	0.591000	0.81541	GAG		0.289	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		15	87	0	0	0	1	0	15	87				
AIM1	202	broad.mit.edu	37	6	106968507	106968507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:106968507C>T	ENST00000369066.3	+	2	2687	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S		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)				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)		TGCCATGCCTCCTATTCACGA	0.438																																						ENST00000369066.3																			0				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						c.(2200-2202)Cct>Tct		absent in melanoma 1							63.0	67.0	65.0					6																	106968507		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968507C>T	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.2200C>T	6.37:g.106968507C>T	ENSP00000358062:p.Pro734Ser						p.P734S	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	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)	2	2687	+	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)	734					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2200C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281336	0.80692	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.76578	-1.03	6.17	6.17	0.99709	.	0.279648	0.30979	N	0.008491	D	0.87533	0.6201	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86392	0.1736	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	734	Q9Y4K1	AIM1_HUMAN	S	1142;734	ENSP00000358062:P734S	ENSP00000285105:P1142S	P	+	1	0	AIM1	107075200	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.632000	0.61311	2.941000	0.99782	0.655000	0.94253	CCT		0.438	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			16	52	0	0	0	1	0	16	52				
PCDHA2	56146	broad.mit.edu	37	5	140175721	140175721	+	Missense_Mutation	SNP	C	C	T	rs566698414		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140175721C>T	ENST00000526136.1	+	1	1172	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P391L|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P391L	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGACGCCCCACGTCCCT	0.582													.|||	1	0.000199681	0.0	0.0	5008	,	,		21060	0.0		0.001	False		,,,				2504	0.0					ENST00000526136.1																			0				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						c.(1171-1173)cCc>cTc									142.0	120.0	127.0					5																	140175721		2203	4300	6503	SO:0001583	missense	0							g.chr5:140175721C>T	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.1172C>T	5.37:g.140175721C>T	ENSP00000431748:p.Pro391Leu					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P391L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P391L	p.P391L	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1172	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1172C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	8.001	0.755303	0.15846	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.60040	0.22;0.22;0.22	3.98	3.03	0.35002	Cadherin (4);Cadherin-like (1);	0.382752	0.18763	U	0.131821	T	0.64962	0.2646	M	0.82630	2.6	0.09310	N	1	B;B;B	0.27791	0.189;0.136;0.189	B;B;B	0.36766	0.232;0.144;0.232	T	0.64550	-0.6381	10	0.72032	D	0.01	.	13.2914	0.60272	0.1582:0.8418:0.0:0.0	.	391;391;391	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	391	ENSP00000430584:P391L;ENSP00000367372:P391L;ENSP00000431748:P391L	ENSP00000367372:P391L	P	+	2	0	PCDHA2	140155905	0.000000	0.05858	0.022000	0.16811	0.192000	0.23643	0.036000	0.13819	1.920000	0.55613	0.650000	0.86243	CCC		0.582	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		42	110	0	0	0	1	0	42	110				
PRKAG2	51422	broad.mit.edu	37	7	151372690	151372690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151372690G>A	ENST00000287878.4	-	4	1004	c.500C>T	c.(499-501)aCc>aTc	p.T167I	PRKAG2_ENST00000392801.2_Missense_Mutation_p.T123I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.T43I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.T43I|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	167					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GGTCACTTGGGTGGGTGTTGA	0.592																																						ENST00000287878.4																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(499-501)aCc>aTc		protein kinase, AMP-activated, gamma 2 non-catalytic subunit							132.0	111.0	118.0					7																	151372690		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151372690G>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.500C>T	7.37:g.151372690G>A	ENSP00000287878:p.Thr167Ile					PRKAG2_ENST00000392801.2_Missense_Mutation_p.T123I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.T43I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.T43I|PRKAG2_ENST00000461529.1_5'UTR	p.T167I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	4	1004	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	167					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.500C>T	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.427957	0.83667	.	.	ENSG00000106617	ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D	0.89123	-2.08;-2.46;-2.46;-2.47	5.43	5.43	0.79202	.	0.118043	0.56097	D	0.000032	D	0.91365	0.7276	L	0.32530	0.975	0.58432	D	0.999997	D;D;D	0.89917	0.988;1.0;0.999	P;D;P	0.83275	0.543;0.996;0.897	D	0.90142	0.4214	10	0.33141	T	0.24	.	18.2916	0.90133	0.0:0.0:1.0:0.0	.	43;167;167	B7Z6X8;Q8NCK6;Q9UGJ0	.;.;AAKG2_HUMAN	I	167;43;43;123	ENSP00000287878:T167I;ENSP00000419577:T43I;ENSP00000406544:T43I;ENSP00000376549:T123I	ENSP00000287878:T167I	T	-	2	0	PRKAG2	151003623	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.694000	0.74587	2.554000	0.86153	0.550000	0.68814	ACC		0.592	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		28	106	0	0	0	1	0	28	106				
LRRC14	9684	broad.mit.edu	37	8	145741244	145741244	+	5'Flank	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145741244C>T	ENST00000292524.1	+	0	0				LRRC14_ENST00000529022.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.E388K|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCAAAACACTCCCCTTTCTTC	0.602																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1162-1164)Gag>Aag	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							47.0	52.0	50.0					8																	145741244		2006	4162	6168	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145741244C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741244C>T	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.E388K	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		6	1203	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		388					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1162G>A	CCDS6432.1																																																																																				0.602	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		10	18	0	0	0	1	0	10	18				
SC5D	6309	broad.mit.edu	37	11	121177953	121177953	+	Missense_Mutation	SNP	G	G	A	rs104894296		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:121177953G>A	ENST00000392789.2	+	5	869	c.632G>A	c.(631-633)gGt>gAt	p.G211D	SC5D_ENST00000528991.1_3'UTR|SC5D_ENST00000534230.1_Splice_Site|SC5D_ENST00000264027.4_Missense_Mutation_p.G211D	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	211			G -> D (in LATHST). {ECO:0000269|PubMed:12189593}.		cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										ATTCATGACGGTGATTTTCGT	0.353																																						ENST00000264027.4																			0						GRCh37	CM022834	SC5DL	M	rs104894296	c.(631-633)gGt>gAt		sterol-C5-desaturase							185.0	185.0	185.0					11																	121177953		2203	4299	6502	SO:0001583	missense	6309							g.chr11:121177953G>A		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.632G>A	11.37:g.121177953G>A	ENSP00000376539:p.Gly211Asp					SC5D_ENST00000392789.2_Missense_Mutation_p.G211D|SC5D_ENST00000528991.1_3'UTR|SC5D_ENST00000534230.1_Splice_Site	p.G211D	NM_006918.4	NP_008849.2					5	1006	+								O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.632G>A	CCDS8435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|G	25.4|25.4	4.630273|4.630273	0.87660|0.87660	.|.	.|.	ENSG00000109929|ENSG00000109929	ENST00000534230|ENST00000264027;ENST00000392789	.|D;D	.|0.85258	.|-1.96;-1.96	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Fatty acid hydroxylase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.94958	.|0.8369	H|H	0.94462|0.94462	3.54|3.54	0.80722|0.80722	A|A	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	.|D	.|0.95517	.|0.8591	.|9	.|0.87932	.|D	.|0	.|-19.7942	19.3122|19.3122	0.94192|0.94192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|211	.|O75845	.|SC5D_HUMAN	.|D	-1|211	.|ENSP00000264027:G211D;ENSP00000376539:G211D	.|ENSP00000264027:G211D	.|G	+|+	.|2	.|0	SC5DL|SC5DL	120683163|120683163	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	7.864000|7.864000	0.87037|0.87037	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	.|GGT		0.353	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		8	217	0	0	0	1	0	8	217				
ASB4	51666	broad.mit.edu	37	7	95165794	95165794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:95165794G>A	ENST00000325885.5	+	4	1095	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	342					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TGAAGTTGTAGTCAATGCCTA	0.408																																						ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(1024-1026)Gtc>Atc		ankyrin repeat and SOCS box containing 4							160.0	122.0	135.0					7																	95165794		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95165794G>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1024G>A	7.37:g.95165794G>A	ENSP00000321388:p.Val342Ile						p.V342I	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	1095	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		342					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1024G>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623988	0.46840	.	.	ENSG00000005981	ENST00000325885	T	0.41065	1.01	5.05	5.05	0.67936	.	0.136777	0.49305	D	0.000147	T	0.27384	0.0672	N	0.24115	0.695	0.80722	D	1	B	0.28998	0.23	B	0.27715	0.082	T	0.08452	-1.0721	10	0.02654	T	1	-18.7186	17.0353	0.86473	0.0:0.0:1.0:0.0	.	342	Q9Y574	ASB4_HUMAN	I	342	ENSP00000321388:V342I	ENSP00000321388:V342I	V	+	1	0	ASB4	95003730	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	5.298000	0.65710	2.543000	0.85770	0.650000	0.86243	GTC		0.408	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		11	37	0	0	0	1	0	11	37				
HOXD12	3238	broad.mit.edu	37	2	176964572	176964572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:176964572C>T	ENST00000406506.2	+	1	115	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	HOXD12_ENST00000404162.2_Missense_Mutation_p.L15F			P35452	HXD12_HUMAN	homeobox D12	15					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGTGGGCTCGCTTCTGAATCT	0.582																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(43-45)Ctt>Ttt		homeobox D12							77.0	82.0	80.0					2																	176964572		1878	4090	5968	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964572C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.43C>T	2.37:g.176964572C>T	ENSP00000385586:p.Leu15Phe					HOXD12_ENST00000404162.2_Missense_Mutation_p.L15F	p.L15F			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	115	+			15					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.43C>T	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998736	0.74818	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.36340	1.26;1.26	5.56	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.86953	2.85	0.58432	D	0.999991	D;P	0.69078	0.997;0.912	P;P	0.59357	0.856;0.559	T	0.63037	-0.6726	10	0.72032	D	0.01	.	10.4454	0.44490	0.0:0.8477:0.0:0.1523	.	15;15	B5MCD3;P35452	.;HXD12_HUMAN	F	15	ENSP00000385586:L15F;ENSP00000385132:L15F	ENSP00000385132:L15F	L	+	1	0	HOXD12	176672818	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.130000	0.57964	0.725000	0.32318	-0.137000	0.14449	CTT		0.582	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		38	56	0	0	0	1	0	38	56				
TRIM71	131405	broad.mit.edu	37	3	32915357	32915357	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:32915357G>A	ENST00000383763.5	+	2	963	c.900G>A	c.(898-900)gaG>gaA	p.E300E		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	300					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTGTCGTGAGTGCACAATGG	0.597																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(898-900)gaG>gaA		tripartite motif containing 71, E3 ubiquitin protein ligase							242.0	248.0	246.0					3																	32915357		2088	4232	6320	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32915357G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.900G>A	3.37:g.32915357G>A							p.E300E	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			2	963	+			300						Silent	SNP	ENST00000383763.5	37	c.900G>A	CCDS43060.1																																																																																				0.597	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		136	201	0	0	0	1	0	136	201				
TOPBP1	11073	broad.mit.edu	37	3	133337087	133337087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:133337087G>A	ENST00000260810.5	-	21	3693	c.3562C>T	c.(3562-3564)Cct>Tct	p.P1188S		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1188					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCATGTAAAGGCTTTTGAAAA	0.373								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(3562-3564)Cct>Tct	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							89.0	84.0	85.0					3																	133337087		1842	4089	5931	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133337087G>A	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3562C>T	3.37:g.133337087G>A	ENSP00000260810:p.Pro1188Ser						p.P1188S	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			21	3693	-			1188					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.3562C>T	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.501249	0.01001	.	.	ENSG00000163781	ENST00000260810	T	0.09255	3.0	6.17	2.83	0.33086	.	0.094055	0.85682	N	0.000000	T	0.02727	0.0082	N	0.03050	-0.425	0.32651	N	0.519415	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.36163	-0.9759	10	0.02654	T	1	.	2.8942	0.05686	0.3532:0.2291:0.4177:0.0	.	1101;1188	A0AV47;Q92547	.;TOPB1_HUMAN	S	1188	ENSP00000260810:P1188S	ENSP00000260810:P1188S	P	-	1	0	TOPBP1	134819777	0.999000	0.42202	0.550000	0.28217	0.021000	0.10359	1.687000	0.37680	1.620000	0.50308	0.655000	0.94253	CCT		0.373	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		19	8	0	0	0	1	0	19	8				
PIN1	5300	broad.mit.edu	37	19	9958869	9958869	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9958869G>A	ENST00000247970.4	+	3	404				PIN1_ENST00000588695.1_Intron|PIN1_ENST00000380889.6_Intron|PIN1_ENST00000587625.1_Silent_p.G145G	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1						cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						ACCCTGAGGGGTAGAGGCCAG	0.662											OREG0025226	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000587625.1																			0				skin(3)	3						c.(433-435)ggG>ggA		peptidylprolyl cis/trans isomerase, NIMA-interacting 1																																				SO:0001627	intron_variant	5300				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding	g.chr19:9958869G>A		CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"""			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.382+53G>A	19.37:g.9958869G>A			OREG0025226	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	660	PIN1_ENST00000588695.1_Intron|PIN1_ENST00000247970.4_Intron|PIN1_ENST00000380889.6_Intron	p.G145G			Q13526	PIN1_HUMAN			3	457	+			0			PpiC.		A8K4V9|Q53X75	Silent	SNP	ENST00000247970.4	37	c.435G>A	CCDS12220.1																																																																																				0.662	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1			3	9	0	0	0	1	0	3	9				
ERCC5	2073	broad.mit.edu	37	13	103518677	103518677	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103518677G>A	ENST00000355739.4	+	10	3688	c.2265G>A	c.(2263-2265)caG>caA	p.Q755Q	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.A1181T|ERCC5_ENST00000375954.1_5'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	755	I-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTCAAAAACAGCAGCAAGAAC	0.448			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000602836.1			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073		"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E					0											c.(3541-3543)Gca>Aca									60.0	64.0	62.0					13																	103518677		2203	4300	6503	SO:0001819	synonymous_variant	0		Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103518677G>A	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2265G>A	13.37:g.103518677G>A						ERCC5_ENST00000355739.4_Silent_p.Q755Q|ERCC5_ENST00000375954.1_5'UTR	p.A1181T	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			18	3541	+			0					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.3541G>A	CCDS32004.1																																																																																				0.448	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			4	65	0	0	0	1	0	4	65				
PXDN	7837	broad.mit.edu	37	2	1667503	1667503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:1667503C>T	ENST00000252804.4	-	12	1491	c.1441G>A	c.(1441-1443)Gtc>Atc	p.V481I	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	481	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)			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)		GATGACAGGACCAGGTGCCGC	0.602																																						ENST00000252804.4																			0				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						c.(1441-1443)Gtc>Atc		peroxidasin homolog (Drosophila)							61.0	69.0	67.0					2																	1667503		2030	4172	6202	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1667503C>T	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.1441G>A	2.37:g.1667503C>T	ENSP00000252804:p.Val481Ile						p.V481I	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	12	1491	-	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)	481			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1441G>A	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.96|17.96	3.515585|3.515585	0.64634|0.64634	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.68624|.	-0.34|.	5.79|5.79	4.91|4.91	0.64330|0.64330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.51346|.	0.1669|.	N|N	0.21240|0.21240	0.645|0.645	0.54753|0.54753	D|D	0.999984|0.999984	B;B|.	0.16396|.	0.014;0.017|.	B;B|.	0.29785|.	0.06;0.107|.	T|.	0.42682|.	-0.9437|.	10|.	0.13470|.	T|.	0.59|.	-60.4014|-60.4014	14.2657|14.2657	0.66116|0.66116	0.0:0.929:0.0:0.071|0.0:0.929:0.0:0.071	.|.	481;481|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	I|X	481|476	ENSP00000252804:V481I|.	ENSP00000252804:V481I|.	V|W	-|-	1|3	0|0	PXDN|PXDN	1646510|1646510	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.892000|0.892000	0.51952|0.51952	3.081000|3.081000	0.50120|0.50120	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GTC|TGG		0.602	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		7	71	0	0	0	1	0	7	71				
CENPE	1062	broad.mit.edu	37	4	104065547	104065547	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:104065547C>T	ENST00000265148.3	-	33	5175	c.5086G>A	c.(5086-5088)Gag>Aag	p.E1696K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1671K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1696					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAGAGTCTCCTCCACACTC	0.383																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(5086-5088)Gag>Aag		centromere protein E, 312kDa							169.0	165.0	166.0					4																	104065547		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104065547C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5086G>A	4.37:g.104065547C>T	ENSP00000265148:p.Glu1696Lys					CENPE_ENST00000380026.3_Missense_Mutation_p.E1671K	p.E1696K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	33	5175	-			1696					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.5086G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196005	0.38806	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71817	-0.6;-0.6	5.13	4.29	0.51040	.	.	.	.	.	T	0.80105	0.4562	M	0.76574	2.34	0.20403	N	0.9999	D;D	0.69078	0.997;0.971	D;P	0.68483	0.958;0.818	T	0.67639	-0.5619	9	0.27785	T	0.31	.	8.2938	0.31973	0.0:0.7578:0.157:0.0852	.	1671;1696	Q02224-3;Q02224	.;CENPE_HUMAN	K	1696;1696;1671	ENSP00000265148:E1696K;ENSP00000369365:E1671K	ENSP00000265148:E1696K	E	-	1	0	CENPE	104284996	0.036000	0.19791	0.118000	0.21660	0.246000	0.25737	1.237000	0.32695	1.174000	0.42811	0.544000	0.68410	GAG		0.383	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	122	0	0	0	1	0	4	122				
UBIAD1	29914	broad.mit.edu	37	1	11333787	11333787	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11333787C>T	ENST00000376810.5	+	1	525	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	UBIAD1_ENST00000376804.2_Silent_p.L67L	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	67					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACCGGTGGCCCTGGGCAGTGC	0.642																																						ENST00000376810.5																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(199-201)Ctg>Ttg		UbiA prenyltransferase domain containing 1							88.0	79.0	82.0					1																	11333787		2203	4300	6503	SO:0001819	synonymous_variant	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11333787C>T		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.199C>T	1.37:g.11333787C>T						UBIAD1_ENST00000376804.2_Silent_p.L67L	p.L67L	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	1	525	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	67					B3KQG3|Q53GX3|Q5THD4	Silent	SNP	ENST00000376810.5	37	c.199C>T	CCDS129.1																																																																																				0.642	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		30	42	0	0	0	1	0	30	42				
ZNF484	83744	broad.mit.edu	37	9	95608530	95608530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:95608530C>T	ENST00000375495.3	-	5	2687	c.2539G>A	c.(2539-2541)Ggc>Agc	p.G847S	ZNF484_ENST00000395506.3_Missense_Mutation_p.G849S|ZNF484_ENST00000332591.6_Missense_Mutation_p.G811S|ZNF484_ENST00000395505.2_Missense_Mutation_p.G811S|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	847					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAAAGTTGGCCTTGGTCACCT	0.423																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2431-2433)Ggc>Agc		zinc finger protein 484							146.0	139.0	141.0					9																	95608530		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608530C>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2539G>A	9.37:g.95608530C>T	ENSP00000364645:p.Gly847Ser					ZNF484_ENST00000332591.6_Missense_Mutation_p.G811S|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.G847S|ZNF484_ENST00000395506.3_Missense_Mutation_p.G849S	p.G811S	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	2523	-			847					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2431G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	5.579	0.291675	0.10567	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.06294	3.32;3.47;3.49;3.32	2.62	0.442	0.16582	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.46498	-0.9187	9	0.02654	T	1	.	5.3225	0.15889	0.0:0.5831:0.0:0.4169	.	849;847	B4DRI2;Q5JVG2	.;ZN484_HUMAN	S	811;849;847;811	ENSP00000378881:G811S;ENSP00000378882:G849S;ENSP00000364645:G847S;ENSP00000364646:G811S	ENSP00000364646:G811S	G	-	1	0	ZNF484	94648351	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.229000	0.09098	0.086000	0.17137	0.643000	0.83706	GGC		0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		7	158	0	0	0	1	0	7	158				
ITGA6	3655	broad.mit.edu	37	2	173335719	173335719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:173335719C>T	ENST00000264106.6	+	5	864	c.661C>T	c.(661-663)Caa>Taa	p.Q221*	ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000375221.2_Nonsense_Mutation_p.Q221*|ITGA6_ENST00000409080.1_Nonsense_Mutation_p.Q221*|ITGA6_ENST00000264107.7_Nonsense_Mutation_p.Q221*			P23229	ITA6_HUMAN	integrin, alpha 6	221					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCGTGTAGAGCAAAAGAATAA	0.358																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(661-663)Caa>Taa		integrin, alpha 6							99.0	88.0	92.0					2																	173335719		2203	4300	6503	SO:0001587	stop_gained	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173335719C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.661C>T	2.37:g.173335719C>T	ENSP00000264106:p.Gln221*					ITGA6_ENST00000264106.6_Nonsense_Mutation_p.Q221*|ITGA6_ENST00000409080.1_Nonsense_Mutation_p.Q221*|ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000264107.7_Nonsense_Mutation_p.Q221*	p.Q221*			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		5	864	+			221					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Nonsense_Mutation	SNP	ENST00000264106.6	37	c.661C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.535286	0.98342	.	.	ENSG00000091409	ENST00000412899;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000409080;ENST00000442250	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.7126	0.96102	0.0:1.0:0.0:0.0	.	.	.	.	X	107;221;221;221;221;221	.	ENSP00000264106:Q221X	Q	+	1	0	ITGA6	173043965	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.818000	0.86416	2.664000	0.90586	0.650000	0.86243	CAA		0.358	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				20	45	0	0	0	1	0	20	45				
KLHL22	84861	broad.mit.edu	37	22	20843327	20843327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:20843327C>T	ENST00000328879.4	-	2	328	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	58	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATGTGTCTGCCCTCCACCACC	0.567																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(172-174)Ggc>Agc		kelch-like family member 22							84.0	65.0	71.0					22																	20843327		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20843327C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.172G>A	22.37:g.20843327C>T	ENSP00000331682:p.Gly58Ser					KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000470335.1_5'UTR	p.G58S	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		2	328	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	58			BTB.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.172G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	c	35	5.499870	0.96355	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;1.66	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.051227	0.85682	D	0.000000	T	0.80303	0.4598	M	0.64676	1.99	0.80722	D	1	D	0.54964	0.969	P	0.55112	0.769	T	0.78388	-0.2223	10	0.30854	T	0.27	.	16.1034	0.81203	0.0:1.0:0.0:0.0	.	58	Q53GT1	KLH22_HUMAN	S	58;90;58;92;58;90	ENSP00000331682:G58S;ENSP00000403999:G90S;ENSP00000398616:G58S;ENSP00000397882:G92S;ENSP00000409092:G58S;ENSP00000402746:G90S	ENSP00000331682:G58S	G	-	1	0	KLHL22	19173327	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.462000	0.66707	2.406000	0.81754	0.550000	0.68814	GGC		0.567	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		9	20	0	0	0	1	0	9	20				
PHLDB1	23187	broad.mit.edu	37	11	118514591	118514591	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118514591C>T	ENST00000361417.2	+	15	3362	c.2951C>T	c.(2950-2952)tCc>tTc	p.S984F	PHLDB1_ENST00000527898.1_Missense_Mutation_p.S20F|PHLDB1_ENST00000524713.1_Missense_Mutation_p.S127F|PHLDB1_ENST00000356063.5_Missense_Mutation_p.S937F|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	984										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ctcccctcctcctctggctct	0.652																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2950-2952)tCc>tTc		pleckstrin homology-like domain, family B, member 1							28.0	33.0	31.0					11																	118514591		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118514591C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2951C>T	11.37:g.118514591C>T	ENSP00000354498:p.Ser984Phe					PHLDB1_ENST00000524713.1_Missense_Mutation_p.S127F|PHLDB1_ENST00000527898.1_Missense_Mutation_p.S20F|PHLDB1_ENST00000356063.5_Missense_Mutation_p.S937F|PHLDB1_ENST00000534672.1_3'UTR	p.S984F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	15	3362	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	984					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.2951C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.493976	0.64186	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.49720	1.43;1.4;0.86;0.77	5.3	5.3	0.74995	.	0.575585	0.17324	N	0.178369	T	0.61961	0.2389	L	0.40543	1.245	0.38310	D	0.943236	D;D;P;D;D;D;P	0.76494	0.998;0.999;0.82;0.991;0.997;0.989;0.874	D;D;B;P;D;P;P	0.85130	0.992;0.997;0.231;0.73;0.932;0.689;0.541	T	0.65676	-0.6110	10	0.66056	D	0.02	-15.5827	16.4433	0.83908	0.0:1.0:0.0:0.0	.	122;127;348;728;937;937;984	B7Z2B9;B4DK17;B0YJ65;Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;.;.;.;PHLB1_HUMAN	F	984;743;348;937;20;127	ENSP00000354498:S984F;ENSP00000348359:S937F;ENSP00000435388:S20F;ENSP00000434905:S127F	ENSP00000348359:S937F	S	+	2	0	PHLDB1	118019801	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.510000	0.53393	2.478000	0.83669	0.655000	0.94253	TCC		0.652	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		9	20	0	0	0	1	0	9	20				
COL5A3	50509	broad.mit.edu	37	19	10089619	10089619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10089619C>T	ENST00000264828.3	-	40	2997	c.2912G>A	c.(2911-2913)gGg>gAg	p.G971E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	971	Collagen-like 5.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCAGCTGGCCCTTCTTTCCC	0.607																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2911-2913)gGg>gAg		collagen, type V, alpha 3							15.0	16.0	16.0					19																	10089619		2203	4299	6502	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10089619C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2912G>A	19.37:g.10089619C>T	ENSP00000264828:p.Gly971Glu						p.G971E	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		40	2997	-			971			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2912G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	c	15.69	2.909204	0.52439	.	.	ENSG00000080573	ENST00000264828	D	0.99619	-6.28	4.43	4.43	0.53597	.	0.000000	0.64402	U	0.000001	D	0.99819	0.9920	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96582	0.9431	10	0.72032	D	0.01	.	14.5441	0.68015	0.0:1.0:0.0:0.0	.	971	P25940	CO5A3_HUMAN	E	971	ENSP00000264828:G971E	ENSP00000264828:G971E	G	-	2	0	COL5A3	9950619	0.998000	0.40836	0.988000	0.46212	0.015000	0.08874	6.836000	0.75349	2.021000	0.59480	0.450000	0.29827	GGG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		8	10	0	0	0	1	0	8	10				
VEZT	55591	broad.mit.edu	37	12	95656847	95656847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:95656847C>T	ENST00000436874.1	+	4	529	c.424C>T	c.(424-426)Cct>Tct	p.P142S	VEZT_ENST00000261219.6_Missense_Mutation_p.P94S|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	142					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CCTGGCAACCCCTAATATTTG	0.448																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(424-426)Cct>Tct		vezatin, adherens junctions transmembrane protein							195.0	194.0	194.0					12																	95656847		1900	4114	6014	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95656847C>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.424C>T	12.37:g.95656847C>T	ENSP00000410083:p.Pro142Ser					VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.P94S	p.P142S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			4	529	+			142					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.424C>T	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831877	0.71258	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000551472;ENST00000552821;ENST00000546445;ENST00000397792;ENST00000397796	T;T;T;T;T;T	0.52526	2.39;0.77;2.4;0.66;0.73;2.4	5.54	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.71581	2.175	0.44966	D	0.997982	D;P;D;D	0.89917	1.0;0.912;0.97;0.972	D;P;P;P	0.87578	0.998;0.476;0.676;0.573	T	0.66228	-0.5976	10	0.30854	T	0.27	-20.9438	16.3039	0.82841	0.0:0.8674:0.1326:0.0	.	142;142;94;94	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	S	142;112;94;161;133;64;94;142	ENSP00000410083:P142S;ENSP00000449591:P112S;ENSP00000261219:P94S;ENSP00000449701:P161S;ENSP00000447151:P64S;ENSP00000380894:P94S	ENSP00000261219:P94S	P	+	1	0	VEZT	94180978	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.686000	0.54685	1.316000	0.45131	-0.282000	0.10007	CCT		0.448	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		61	135	0	0	0	1	0	61	135				
HOXA10	3206	broad.mit.edu	37	7	27213919	27213919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:27213919C>T	ENST00000283921.4	-	1	6	c.7G>A	c.(7-9)Gcc>Acc	p.A3T	HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000396344.4_Intron|HOXA10_ENST00000521421.1_5'Flank	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	3					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCTTTCTGGCTGACATTTCT	0.572																																						ENST00000283921.4																			0				breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(7-9)Gcc>Acc		homeobox A10							42.0	49.0	47.0					7																	27213919		1234	2623	3857	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213919C>T		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.7G>A	7.37:g.27213919C>T	ENSP00000283921:p.Ala3Thr					HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	p.A3T	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN			1	6	-			3					O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.7G>A	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120938	0.77436	.	.	ENSG00000253293	ENST00000283921	D	0.93247	-3.19	5.43	5.43	0.79202	.	.	.	.	.	D	0.93566	0.7946	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	P	0.61132	0.884	D	0.94714	0.7895	9	0.87932	D	0	.	19.23	0.93834	0.0:1.0:0.0:0.0	.	3	P31260	HXA10_HUMAN	T	3	ENSP00000283921:A3T	ENSP00000283921:A3T	A	-	1	0	HOXA10	27180444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.534000	0.67167	2.522000	0.85027	0.561000	0.74099	GCC		0.572	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			15	104	0	0	0	1	0	15	104				
FLG2	388698	broad.mit.edu	37	1	152325172	152325172	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:152325172C>T	ENST00000388718.5	-	3	5162	c.5090G>A	c.(5089-5091)gGa>gAa	p.G1697E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1697					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGTCTGTCCATGAGTAGT	0.498																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5089-5091)gGa>gAa		filaggrin family member 2							415.0	361.0	379.0					1																	152325172		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325172C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5090G>A	1.37:g.152325172C>T	ENSP00000373370:p.Gly1697Glu					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G1697E	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5162	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1697					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5090G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	2.092	-0.408101	0.04832	.	.	ENSG00000143520	ENST00000388718	T	0.01902	4.57	4.43	2.54	0.30619	.	.	.	.	.	T	0.00412	0.0013	L	0.28274	0.84	0.09310	N	1	B	0.34241	0.444	B	0.24974	0.057	T	0.40553	-0.9557	9	0.02654	T	1	0.0042	7.1663	0.25693	0.0:0.7868:0.0:0.2132	.	1697	Q5D862	FILA2_HUMAN	E	1697	ENSP00000373370:G1697E	ENSP00000373370:G1697E	G	-	2	0	FLG2	150591796	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.033000	0.12246	0.435000	0.26365	0.456000	0.33151	GGA		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		106	258	0	0	0	1	0	106	258				
ARVCF	421	broad.mit.edu	37	22	19964979	19964979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:19964979C>T	ENST00000263207.3	-	9	2120	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	ARVCF_ENST00000406259.1_Missense_Mutation_p.R610K|ARVCF_ENST00000401994.1_Missense_Mutation_p.R547K|ARVCF_ENST00000406522.1_Missense_Mutation_p.R547K|ARVCF_ENST00000344269.3_Missense_Mutation_p.R547K	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	610	Poly-Arg.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ATCATCCCGCCTCCGGCGCTG	0.662																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1828-1830)aGg>aAg		armadillo repeat gene deleted in velocardiofacial syndrome							67.0	70.0	69.0					22																	19964979		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19964979C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1829G>A	22.37:g.19964979C>T	ENSP00000263207:p.Arg610Lys					ARVCF_ENST00000406522.1_Missense_Mutation_p.R547K|ARVCF_ENST00000401994.1_Missense_Mutation_p.R547K|ARVCF_ENST00000406259.1_Missense_Mutation_p.R610K|ARVCF_ENST00000344269.3_Missense_Mutation_p.R547K	p.R610K	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			9	2120	-	Colorectal(54;0.0993)		610			Poly-Arg.		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1829G>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	7.698	0.692511	0.15039	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	4.05	3.03	0.35002	Armadillo-type fold (1);	0.174595	0.48286	N	0.000189	T	0.35422	0.0931	N	0.00637	-1.305	0.33457	D	0.584472	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35251	-0.9796	9	.	.	.	-13.4048	5.2168	0.15346	0.0:0.648:0.0:0.3519	.	610;132	O00192;E7EV58	ARVC_HUMAN;.	K	610;547;547;547;610	ENSP00000263207:R610K;ENSP00000342042:R547K;ENSP00000384341:R547K;ENSP00000384732:R547K;ENSP00000385444:R610K	.	R	-	2	0	ARVCF	18344979	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.949000	0.40313	1.292000	0.44672	0.563000	0.77884	AGG		0.662	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		28	60	0	0	0	1	0	28	60				
UGT2B7	7364	broad.mit.edu	37	4	69978278	69978278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69978278G>A	ENST00000305231.7	+	6	1460	c.1414G>A	c.(1414-1416)Gga>Aga	p.G472R	UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	472					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCGCCACAAAGGAGCTAAACA	0.468																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1414-1416)Gga>Aga		UDP glucuronosyltransferase 2 family, polypeptide B7							154.0	147.0	150.0					4																	69978278		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978278G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1414G>A	4.37:g.69978278G>A	ENSP00000304811:p.Gly472Arg					UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR	p.G472R	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			6	1460	+			472					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1414G>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993682	0.54041	.	.	ENSG00000171234	ENST00000305231	D	0.81739	-1.53	2.13	2.13	0.27403	.	0.000000	0.64402	U	0.000004	D	0.87334	0.6151	M	0.85099	2.735	0.80722	D	1	P	0.49961	0.93	P	0.60345	0.873	D	0.87247	0.2270	9	.	.	.	.	9.956	0.41666	0.0:0.0:1.0:0.0	.	472	P16662	UD2B7_HUMAN	R	472	ENSP00000304811:G472R	.	G	+	1	0	UGT2B7	70012867	1.000000	0.71417	0.968000	0.41197	0.552000	0.35366	8.547000	0.90665	1.192000	0.43071	0.306000	0.20318	GGA		0.468	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		42	254	0	0	0	1	0	42	254				
PML	5371	broad.mit.edu	37	15	74315287	74315287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74315287G>A	ENST00000268058.3	+	3	817	c.721G>A	c.(721-723)Gac>Aac	p.D241N	PML_ENST00000435786.2_Missense_Mutation_p.D241N|PML_ENST00000569477.1_Missense_Mutation_p.D241N|PML_ENST00000436891.3_Missense_Mutation_p.D241N|PML_ENST00000567543.1_Missense_Mutation_p.D241N|PML_ENST00000569965.1_Missense_Mutation_p.D241N|PML_ENST00000395135.3_Missense_Mutation_p.D241N|PML_ENST00000395132.2_Missense_Mutation_p.D241N|PML_ENST00000354026.6_Missense_Mutation_p.D241N|PML_ENST00000565898.1_Missense_Mutation_p.D241N|PML_ENST00000359928.4_Missense_Mutation_p.D241N|PML_ENST00000268059.6_Missense_Mutation_p.D241N|PML_ENST00000564428.1_Missense_Mutation_p.D241N|PML_ENST00000563500.1_Missense_Mutation_p.D241N|PML_ENST00000569161.1_3'UTR	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	241					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGAGGAGCTGGACGCCATGAC	0.672			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(721-723)Gac>Aac		promyelocytic leukemia							32.0	28.0	29.0					15																	74315287		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74315287G>A	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.721G>A	15.37:g.74315287G>A	ENSP00000268058:p.Asp241Asn					PML_ENST00000268058.3_Missense_Mutation_p.D241N|PML_ENST00000569477.1_Missense_Mutation_p.D241N|PML_ENST00000563500.1_Missense_Mutation_p.D241N|PML_ENST00000395132.2_Missense_Mutation_p.D241N|PML_ENST00000435786.2_Missense_Mutation_p.D241N|PML_ENST00000395135.3_Missense_Mutation_p.D241N|PML_ENST00000359928.4_Missense_Mutation_p.D241N|PML_ENST00000354026.6_Missense_Mutation_p.D241N|PML_ENST00000569965.1_Missense_Mutation_p.D241N|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.D241N|PML_ENST00000268059.6_Missense_Mutation_p.D241N|PML_ENST00000436891.3_Missense_Mutation_p.D241N|PML_ENST00000564428.1_Missense_Mutation_p.D241N	p.D241N			P29590	PML_HUMAN			3	805	+			241					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.721G>A	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703643	0.48412	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T;T	0.56103	0.48;0.48;0.87;0.48	4.82	1.68	0.24146	.	0.705821	0.12528	N	0.461066	T	0.53481	0.1799	L	0.54323	1.7	0.18873	N	0.999984	B;P;P;P;B;P;P;P;P;P;D;B	0.57257	0.202;0.833;0.799;0.82;0.041;0.784;0.955;0.89;0.948;0.646;0.979;0.267	B;P;B;B;B;B;P;P;P;B;P;B	0.56434	0.079;0.499;0.366;0.366;0.054;0.316;0.649;0.466;0.549;0.196;0.798;0.079	T	0.39542	-0.9609	10	0.20519	T	0.43	-9.0744	4.1388	0.10183	0.0884:0.1573:0.5918:0.1626	.	191;241;241;241;241;241;241;241;241;241;241;244	Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	N	241	ENSP00000353004:D241N;ENSP00000394642:D241N;ENSP00000268058:D241N;ENSP00000378564:D241N	ENSP00000268058:D241N	D	+	1	0	PML	72102340	0.872000	0.30054	0.221000	0.23827	0.772000	0.43724	1.088000	0.30877	0.432000	0.26286	0.313000	0.20887	GAC		0.672	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		4	10	0	0	0	1	0	4	10				
GCN1L1	10985	broad.mit.edu	37	12	120580667	120580667	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120580667G>A	ENST00000300648.6	-	43	5586	c.5574C>T	c.(5572-5574)gcC>gcT	p.A1858A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1858					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCCTCAGAGGCAGTTTCTG	0.542																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5572-5574)gcC>gcT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							154.0	154.0	154.0					12																	120580667		2050	4202	6252	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120580667G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5574C>T	12.37:g.120580667G>A							p.A1858A	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			43	5586	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1858					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5574C>T	CCDS41847.1																																																																																				0.542	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			29	60	0	0	0	1	0	29	60				
SRRM2	23524	broad.mit.edu	37	16	2811732	2811732	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2811732G>A	ENST00000301740.8	+	11	1752	c.1203G>A	c.(1201-1203)cgG>cgA	p.R401R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	401	Pro-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCCAACTCGGGACCGTTCAC	0.597																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1201-1203)cgG>cgA		serine/arginine repetitive matrix 2							125.0	131.0	129.0					16																	2811732		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2811732G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1203G>A	16.37:g.2811732G>A							p.R401R	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	1752	+			401			Pro-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.1203G>A	CCDS32373.1																																																																																				0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			14	150	0	0	0	1	0	14	150				
SALL1	6299	broad.mit.edu	37	16	51171082	51171082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:51171082C>T	ENST00000251020.4	-	3	3949	c.3916G>A	c.(3916-3918)Gga>Aga	p.G1306R	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.G1209R|SALL1_ENST00000541611.1_Missense_Mutation_p.G129R	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1306					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G1306*(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTTGGTTCCGTTCTCACTG	0.562																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Nonsense(1)	p.G1306*(1)	lung(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3625-3627)Gga>Aga		spalt-like transcription factor 1							78.0	68.0	71.0					16																	51171082		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171082C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3916G>A	16.37:g.51171082C>T	ENSP00000251020:p.Gly1306Arg					SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.G129R|SALL1_ENST00000251020.4_Missense_Mutation_p.G1306R	p.G1209R	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	4056	-		all_cancers(37;0.0322)	1306					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3625G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070507	0.36566	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.50548	0.74;0.74;0.74	5.8	3.72	0.42706	.	0.155570	0.64402	N	0.000020	T	0.43500	0.1250	L	0.59436	1.845	0.58432	D	0.999998	B;B	0.20164	0.042;0.013	B;B	0.12837	0.008;0.007	T	0.34153	-0.9840	10	0.54805	T	0.06	.	11.2066	0.48773	0.0:0.8398:0.0:0.1602	.	1306;129	Q9NSC2;F5H733	SALL1_HUMAN;.	R	1306;1209;1270;129	ENSP00000251020:G1306R;ENSP00000407914:G1209R;ENSP00000442827:G129R	ENSP00000251020:G1306R	G	-	1	0	SALL1	49728583	0.999000	0.42202	0.968000	0.41197	0.997000	0.91878	3.276000	0.51646	0.678000	0.31325	0.643000	0.83706	GGA		0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		24	28	0	0	0	1	0	24	28				
SZT2	23334	broad.mit.edu	37	1	43908645	43908645	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43908645G>A	ENST00000562955.1	+	58	8136	c.8136G>A	c.(8134-8136)agG>agA	p.R2712R	SZT2_ENST00000372442.1_Silent_p.R1870R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2769					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)				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						AGGCCCTAAGGGATATCACGG	0.612																																						ENST00000562955.1																			0				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						c.(8134-8136)agG>agA		seizure threshold 2 homolog (mouse)							64.0	68.0	67.0					1																	43908645		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43908645G>A	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.8136G>A	1.37:g.43908645G>A						SZT2_ENST00000372442.1_Silent_p.R1870R	p.R2712R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			58	8136	+			2769					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.8136G>A	CCDS30694.2																																																																																				0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	55	0	0	0	1	0	4	55				
AKAP9	10142	broad.mit.edu	37	7	91726605	91726605	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:91726605G>A	ENST00000359028.2	+	41	10569	c.10344G>A	c.(10342-10344)caG>caA	p.Q3448Q	AKAP9_ENST00000356239.3_Silent_p.Q3444Q|AKAP9_ENST00000358100.2_Silent_p.Q3394Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3448			Q -> R (in dbSNP:rs34956633).		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)			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)			AGGAATTCCAGAAGCAAGAAC	0.373			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				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						c.(10342-10344)caG>caA		A kinase (PRKA) anchor protein 9							32.0	34.0	33.0					7																	91726605		2200	4300	6500	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91726605G>A	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.10344G>A	7.37:g.91726605G>A						AKAP9_ENST00000358100.2_Silent_p.Q3394Q|AKAP9_ENST00000356239.3_Silent_p.Q3444Q	p.Q3448Q			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		41	10569	+	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)		3448		Q -> R (in dbSNP:rs34956633).			A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.10344G>A																																																																																					0.373	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		6	36	0	0	0	1	0	6	36				
TSSK4	283629	broad.mit.edu	37	14	24677253	24677253	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24677253C>T	ENST00000287913.6	+	4	1056	c.888C>T	c.(886-888)ttC>ttT	p.F296F	TM9SF1_ENST00000530611.1_Intron|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Silent_p.F103F|AL136419.6_ENST00000565988.1_RNA|TSSK4_ENST00000339917.5_Silent_p.F306F|TSSK4_ENST00000556621.1_Silent_p.F220F			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	296					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TGCTCAAGTTCCAGCCTGAGC	0.532																																						ENST00000339917.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(916-918)ttC>ttT		testis-specific serine kinase 4							115.0	86.0	96.0					14																	24677253		2203	4300	6503	SO:0001819	synonymous_variant	283629				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:24677253C>T	AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.888C>T	14.37:g.24677253C>T						TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Silent_p.F103F|TSSK4_ENST00000556621.1_Silent_p.F220F|TSSK4_ENST00000287913.6_Silent_p.F296F	p.F306F	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	4	1122	+			296					Q2TA60|Q6ZNM2	Silent	SNP	ENST00000287913.6	37	c.918C>T	CCDS9618.1																																																																																				0.532	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		13	35	0	0	0	1	0	13	35				
HNRNPD	3184	broad.mit.edu	37	4	83280668	83280668	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83280668C>T	ENST00000313899.7	-	3	692	c.415G>A	c.(415-417)Ggt>Agt	p.G139S	HNRNPD_ENST00000543098.1_Missense_Mutation_p.G87S|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Missense_Mutation_p.G120S|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000353341.4_Missense_Mutation_p.G139S	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	139	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						AAGCCAAAACCCCTTGATCGC	0.373																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(415-417)Ggt>Agt		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							108.0	106.0	106.0					4																	83280668		2203	4300	6503	SO:0001583	missense	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280668C>T	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.415G>A	4.37:g.83280668C>T	ENSP00000313199:p.Gly139Ser					HNRNPD_ENST00000353341.4_Missense_Mutation_p.G139S|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000543098.1_Missense_Mutation_p.G87S|HNRNPD_ENST00000352301.4_Missense_Mutation_p.G120S	p.G139S	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			3	692	-			139			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	c.415G>A	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.734791|5.734791	0.96865|0.96865	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000514671|ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822	.|T;T;T;T;T;T;T;T	.|0.14893	.|2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.86|5.86	5.86|5.86	0.93980|0.93980	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.56529|0.56529	0.1991|0.1991	M|M	0.93978|0.93978	3.48|3.48	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	.|1.0;1.0;1.0;1.0	T|T	0.65837|0.65837	-0.6071|-0.6071	6|10	.|0.87932	.|D	.|0	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|120;139;120;139	.|Q14103-4;Q14103-3;Q14103-2;Q14103	.|.;.;.;HNRPD_HUMAN	E|S	42|139;139;120;87;114;72;139;41;120	.|ENSP00000313199:G139S;ENSP00000313327:G139S;ENSP00000305860:G120S;ENSP00000439380:G87S;ENSP00000420926:G72S;ENSP00000421952:G139S;ENSP00000426666:G41S;ENSP00000422615:G120S	.|ENSP00000307544:G114S	G|G	-|-	2|1	0|0	HNRNPD|HNRNPD	83499692|83499692	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.398000|7.398000	0.79919|0.79919	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGG|GGT		0.373	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		5	108	0	0	0	1	0	5	108				
CNOT2	4848	broad.mit.edu	37	12	70736082	70736082	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:70736082G>A	ENST00000418359.3	+	14	1736	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	CNOT2_ENST00000229195.3_Missense_Mutation_p.D429N|CNOT2_ENST00000551483.1_Missense_Mutation_p.D80N	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	429					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCACATTAGGGATAAGGTGAG	0.294																																						ENST00000551483.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(238-240)Gat>Aat		CCR4-NOT transcription complex, subunit 2							123.0	123.0	123.0					12																	70736082		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70736082G>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.1285G>A	12.37:g.70736082G>A	ENSP00000412091:p.Asp429Asn					CNOT2_ENST00000418359.3_Missense_Mutation_p.D429N|CNOT2_ENST00000229195.3_Missense_Mutation_p.D429N	p.D80N			Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		4	4393	+	Renal(347;0.236)		429					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.238G>A	CCDS31857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.68|19.68	3.872190|3.872190	0.72180|0.72180	.|.	.|.	ENSG00000111596|ENSG00000111596	ENST00000229195;ENST00000418359;ENST00000548159;ENST00000551043;ENST00000551483;ENST00000551710|ENST00000552599;ENST00000548338	T;T;T;T;T;T|.	0.44881|.	1.0;1.0;1.0;1.0;1.0;0.91|.	5.46|5.46	5.46|5.46	0.80206|0.80206	NOT2/NOT3/NOT5 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70413|0.70413	0.3221|0.3221	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	B;B|.	0.34103|.	0.01;0.437|.	B;P|.	0.48488|.	0.025;0.579|.	T|T	0.66416|0.66416	-0.5929|-0.5929	10|5	0.42905|.	T|.	0.14|.	-2.3182|-2.3182	19.3147|19.3147	0.94207|0.94207	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	429;429|.	Q9NZN8-4;Q9NZN8|.	.;CNOT2_HUMAN|.	N|E	429;429;420;429;80;12|139;55	ENSP00000229195:D429N;ENSP00000412091:D429N;ENSP00000449659:D420N;ENSP00000449260:D429N;ENSP00000448883:D80N;ENSP00000447808:D12N|.	ENSP00000229195:D429N|.	D|G	+|+	1|2	0|0	CNOT2|CNOT2	69022349|69022349	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.720000|9.720000	0.98763|0.98763	2.560000|2.560000	0.86352|0.86352	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.294	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			31	46	0	0	0	1	0	31	46				
DLC1	10395	broad.mit.edu	37	8	12957382	12957382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:12957382G>A	ENST00000276297.4	-	9	2873	c.2464C>T	c.(2464-2466)Ctc>Ttc	p.L822F	DLC1_ENST00000512044.2_Missense_Mutation_p.L419F|DLC1_ENST00000358919.2_Missense_Mutation_p.L385F|DLC1_ENST00000520226.1_Missense_Mutation_p.L311F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	822	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			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						CCATTGGTGAGAGCTTTGGGG	0.562																																						ENST00000276297.4																			0				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						c.(2464-2466)Ctc>Ttc		deleted in liver cancer 1							116.0	120.0	119.0					8																	12957382		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957382G>A	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.2464C>T	8.37:g.12957382G>A	ENSP00000276297:p.Leu822Phe					DLC1_ENST00000520226.1_Missense_Mutation_p.L311F|DLC1_ENST00000512044.2_Missense_Mutation_p.L419F|DLC1_ENST00000358919.2_Missense_Mutation_p.L385F	p.L822F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2873	-			822					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2464C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069780	0.76301	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.34472	1.77;1.5;1.45;1.36	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72398	-0.4306	10	0.87932	D	0	.	20.0897	0.97814	0.0:0.0:1.0:0.0	.	822;419;385	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	F	822;385;419;311	ENSP00000276297:L822F;ENSP00000351797:L385F;ENSP00000422595:L419F;ENSP00000428028:L311F	ENSP00000276297:L822F	L	-	1	0	DLC1	13001753	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.406000	0.66357	2.832000	0.97577	0.655000	0.94253	CTC		0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	144	0	0	0	1	0	5	144				
PPIP5K2	23262	broad.mit.edu	37	5	102490578	102490578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:102490578G>A	ENST00000358359.3	+	13	1843	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G445E|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.G445E	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	445					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGAGCTAGGGCAAAATAAT	0.284																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1333-1335)gGg>gAg		diphosphoinositol pentakisphosphate kinase 2							80.0	79.0	80.0					5																	102490578		2203	4299	6502	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102490578G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1334G>A	5.37:g.102490578G>A	ENSP00000351126:p.Gly445Glu					PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G445E|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.G445E	p.G445E			O43314	VIP2_HUMAN			13	1907	+			445					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.1334G>A		.	.	.	.	.	.	.	.	.	.	G	4.881	0.163686	0.09287	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.13196	2.61;2.61;2.61	5.02	5.02	0.67125	.	0.178585	0.38164	N	0.001792	T	0.06690	0.0171	N	0.11106	0.095	0.58432	D	0.999994	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.004;0.003;0.006	T	0.12167	-1.0558	10	0.02654	T	1	.	13.0745	0.59079	0.0784:0.0:0.9216:0.0	.	367;445;445	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	E	445;367;445;445;445	ENSP00000313070:G445E;ENSP00000351126:G445E;ENSP00000416016:G445E	ENSP00000313070:G445E	G	+	2	0	PPIP5K2	102518477	1.000000	0.71417	0.411000	0.26484	0.725000	0.41563	6.745000	0.74860	2.471000	0.83476	0.655000	0.94253	GGG		0.284	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		10	57	0	0	0	1	0	10	57				
ZNF462	58499	broad.mit.edu	37	9	109688784	109688784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:109688784G>A	ENST00000277225.5	+	3	2880	c.2591G>A	c.(2590-2592)cGa>cAa	p.R864Q	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.R864Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	864					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACTACCAACGAATGCACCCA	0.438																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2590-2592)cGa>cAa		zinc finger protein 462							179.0	162.0	168.0					9																	109688784		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688784G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2591G>A	9.37:g.109688784G>A	ENSP00000277225:p.Arg864Gln					ZNF462_ENST00000457913.1_Missense_Mutation_p.R864Q	p.R864Q			Q96JM2	ZN462_HUMAN			3	2880	+			864					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2591G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312148	0.81358	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.12672	2.66;3.06	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.20659	0.0497	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.993;0.992	T	0.31364	-0.9946	9	.	.	.	.	20.2227	0.98327	0.0:0.0:1.0:0.0	.	864;864	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Q	864	ENSP00000277225:R864Q;ENSP00000414570:R864Q	.	R	+	2	0	ZNF462	108728605	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.375000	0.97178	2.778000	0.95560	0.650000	0.86243	CGA		0.438	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		62	137	0	0	0	1	0	62	137				
PCLO	27445	broad.mit.edu	37	7	82582356	82582356	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:82582356G>A	ENST00000333891.9	-	5	8250	c.7913C>T	c.(7912-7914)aCc>aTc	p.T2638I	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.T2638I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGTAGAAGGTCTGTTCTGA	0.453																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(7912-7914)aCc>aTc		piccolo presynaptic cytomatrix protein							90.0	87.0	88.0					7																	82582356		1868	4113	5981	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582356G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7913C>T	7.37:g.82582356G>A	ENSP00000334319:p.Thr2638Ile					PCLO_ENST00000333891.8_Missense_Mutation_p.T2638I	p.T2638I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	8250	-			2569						Missense_Mutation	SNP	ENST00000333891.9	37	c.7913C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.765485	0.00651	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.33	5.14	-0.00129	0.14035	.	.	.	.	.	T	0.10594	0.0259	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33059	-0.9883	9	0.87932	D	0	.	2.5763	0.04807	0.2067:0.4787:0.1486:0.1661	.	2638;2638	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2569;2638;2638	ENSP00000334319:T2638I;ENSP00000388393:T2638I	ENSP00000334319:T2638I	T	-	2	0	PCLO	82420292	0.001000	0.12720	0.012000	0.15200	0.016000	0.09150	0.322000	0.19576	-0.063000	0.13065	-0.282000	0.10007	ACC		0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	92	0	0	0	1	0	6	92				
PRDM5	11107	broad.mit.edu	37	4	121739572	121739572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:121739572C>T	ENST00000264808.3	-	5	826	c.586G>A	c.(586-588)Gag>Aag	p.E196K	PRDM5_ENST00000428209.2_Missense_Mutation_p.E196K|PRDM5_ENST00000515109.1_Missense_Mutation_p.E196K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	196					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AATTCTTTCTCCTCTGTGGGT	0.388																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(586-588)Gag>Aag		PR domain containing 5							89.0	86.0	87.0					4																	121739572		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121739572C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.586G>A	4.37:g.121739572C>T	ENSP00000264808:p.Glu196Lys					PRDM5_ENST00000428209.2_Missense_Mutation_p.E196K|PRDM5_ENST00000515109.1_Missense_Mutation_p.E196K	p.E196K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			5	826	-			196					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.586G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344600	0.95807	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.34859	1.34;1.34;1.34	5.32	5.32	0.75619	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048942	0.85682	D	0.000000	T	0.48390	0.1497	M	0.69185	2.1	0.80722	D	1	P;P;P	0.51791	0.877;0.948;0.877	B;P;B	0.47941	0.411;0.562;0.411	T	0.54186	-0.8331	10	0.72032	D	0.01	-34.1283	19.0126	0.92879	0.0:1.0:0.0:0.0	.	196;196;196	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	K	196	ENSP00000264808:E196K;ENSP00000422309:E196K;ENSP00000404832:E196K	ENSP00000264808:E196K	E	-	1	0	PRDM5	121959022	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.412000	0.80091	2.498000	0.84270	0.555000	0.69702	GAG		0.388	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			20	96	0	0	0	1	0	20	96				
ZNF223	7766	broad.mit.edu	37	19	44564675	44564675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44564675C>T	ENST00000434772.3	+	3	338	c.83C>T	c.(82-84)gCc>gTc	p.A28V	ZNF223_ENST00000585552.1_Missense_Mutation_p.A28V|ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000591793.1_Missense_Mutation_p.A138V	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	28	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)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTGGACCTTGCCCAGAGGAAG	0.532																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(412-414)gCc>gTc		zinc finger protein 223							244.0	220.0	228.0					19																	44564675		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564675C>T	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.83C>T	19.37:g.44564675C>T	ENSP00000401947:p.Ala28Val					ZNF223_ENST00000585552.1_Missense_Mutation_p.A28V|ZNF223_ENST00000434772.3_Missense_Mutation_p.A28V|ZNF223_ENST00000588518.1_Intron	p.A138V			Q9UK11	ZN223_HUMAN			5	496	+		Prostate(69;0.0352)	28		L -> I (in dbSNP:rs6509138).			Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.413C>T	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.935932	0.52972	.	.	ENSG00000178386	ENST00000434772	T	0.02498	4.27	2.37	2.37	0.29283	Krueppel-associated box (4);	.	.	.	.	T	0.10551	0.0258	M	0.73372	2.23	0.23984	N	0.996266	D	0.65815	0.995	D	0.65010	0.931	T	0.07829	-1.0752	9	0.49607	T	0.09	.	8.2357	0.31625	0.2382:0.7618:0.0:0.0	.	28	Q9UK11	ZN223_HUMAN	V	28	ENSP00000401947:A28V	ENSP00000401947:A28V	A	+	2	0	ZNF223	49256515	0.000000	0.05858	0.976000	0.42696	0.863000	0.49368	0.074000	0.14662	1.301000	0.44836	0.305000	0.20034	GCC		0.532	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			66	129	0	0	0	1	0	66	129				
FER1L6	654463	broad.mit.edu	37	8	125074160	125074160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:125074160G>A	ENST00000522917.1	+	25	3421	c.3215G>A	c.(3214-3216)gGg>gAg	p.G1072E	FER1L6_ENST00000399018.1_Missense_Mutation_p.G1072E|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1072	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAGCTTTTGGGAGGAGTACC	0.547																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3214-3216)gGg>gAg		fer-1-like 6 (C. elegans)							100.0	103.0	102.0					8																	125074160		2015	4218	6233	SO:0001583	missense	654463					integral to membrane		g.chr8:125074160G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3215G>A	8.37:g.125074160G>A	ENSP00000428280:p.Gly1072Glu					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G1072E	p.G1072E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		25	3421	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1072			C2 4.			Missense_Mutation	SNP	ENST00000522917.1	37	c.3215G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960973	0.92791	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86432	-2.12;-2.12	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.95345	0.8489	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95903	0.8917	10	0.87932	D	0	-11.8172	19.3787	0.94523	0.0:0.0:1.0:0.0	.	1072	Q2WGJ9	FR1L6_HUMAN	E	1072	ENSP00000428280:G1072E;ENSP00000381982:G1072E	ENSP00000381982:G1072E	G	+	2	0	FER1L6	125143341	1.000000	0.71417	0.836000	0.33094	0.816000	0.46133	9.813000	0.99286	2.738000	0.93877	0.655000	0.94253	GGG		0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		13	74	0	0	0	1	0	13	74				
PTPRK	5796	broad.mit.edu	37	6	128319974	128319974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:128319974G>A	ENST00000368215.3	-	16	2566	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	PTPRK_ENST00000532331.1_Missense_Mutation_p.S873F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S857F|PTPRK_ENST00000524481.1_5'Flank|PTPRK_ENST00000368227.3_Missense_Mutation_p.S869F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S869F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S883F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S857F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	856					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)		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)		CTGGTAAGGGGATTCCGTCCC	0.493																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				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						c.(2605-2607)tCc>tTc		protein tyrosine phosphatase, receptor type, K							124.0	106.0	112.0					6																	128319974		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128319974G>A	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.2567C>T	6.37:g.128319974G>A	ENSP00000357198:p.Ser856Phe					PTPRK_ENST00000368215.3_Missense_Mutation_p.S856F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S857F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S883F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S869F|PTPRK_ENST00000532331.1_Missense_Mutation_p.S873F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S857F	p.S869F			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	17	2972	-			856					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2606C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.866027|3.866027	0.71949|0.71949	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000415046|ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055	.|T;T;T;T;T;T;T;T	.|0.10573	.|3.05;3.07;3.07;3.05;3.07;3.05;3.08;2.86	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20047|0.20047	0.0482|0.0482	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.998;0.999;0.995;0.997	.|D;D;D;D	.|0.80764	.|0.969;0.981;0.986;0.994	T|T	0.01500|0.01500	-1.1339|-1.1339	5|10	.|0.21014	.|T	.|0.42	.|.	19.935|19.935	0.97137|0.97137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|873;857;856;857	.|B7ZMG0;Q15262-3;Q15262;Q15262-2	.|.;.;PTPRK_HUMAN;.	S|F	150|857;869;873;857;869;856;883;116	.|ENSP00000357209:S857F;ENSP00000357210:S869F;ENSP00000432973:S873F;ENSP00000357196:S857F;ENSP00000357193:S869F;ENSP00000357198:S856F;ENSP00000357190:S883F;ENSP00000408180:S116F	.|ENSP00000357190:S883F	P|S	-|-	1|2	0|0	PTPRK|PTPRK	128361667|128361667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.864000|9.864000	0.99589|0.99589	2.705000|2.705000	0.92388|0.92388	0.650000|0.650000	0.86243|0.86243	CCC|TCC		0.493	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			26	36	0	0	0	1	0	26	36				
DSCAM	1826	broad.mit.edu	37	21	41450732	41450732	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:41450732C>T	ENST00000400454.1	-	26	5070	c.4593G>A	c.(4591-4593)aaG>aaA	p.K1531K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1531	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGATGTAGGACTTGGAGAGAG	0.582																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4591-4593)aaG>aaA		Down syndrome cell adhesion molecule							53.0	59.0	57.0					21																	41450732		2131	4252	6383	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41450732C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4593G>A	21.37:g.41450732C>T							p.K1531K	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			26	5070	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1531			Fibronectin type-III 6.		O60468	Silent	SNP	ENST00000400454.1	37	c.4593G>A	CCDS42929.1																																																																																				0.582	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		10	22	0	0	0	1	0	10	22				
MET	4233	broad.mit.edu	37	7	116398635	116398635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116398635C>T	ENST00000318493.6	+	9	2412	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	MET_ENST00000397752.3_Missense_Mutation_p.P742L|MET_ENST00000436117.2_Missense_Mutation_p.P742L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGTGAAGATCCCATTGTCTAT	0.368			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2224-2226)cCc>cTc		met proto-oncogene							81.0	73.0	76.0					7																	116398635		1822	4081	5903	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116398635C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2225C>T	7.37:g.116398635C>T	ENSP00000317272:p.Pro742Leu					MET_ENST00000318493.6_Missense_Mutation_p.P742L|MET_ENST00000436117.2_Missense_Mutation_p.P742L	p.P742L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		9	2425	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	742			IPT/TIG 3.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2225C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075303	0.55646	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117;ENST00000422097	D;D;T;D	0.84516	-1.86;-1.67;0.02;-1.86	5.43	5.43	0.79202	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.095549	0.85682	D	0.000000	D	0.93380	0.7889	M	0.86268	2.805	0.80722	D	1	P;D;D;D;D	0.89917	0.954;0.999;1.0;0.995;0.998	P;D;D;D;D	0.79784	0.69;0.993;0.972;0.964;0.957	D	0.93882	0.7172	10	0.87932	D	0	.	19.6103	0.95602	0.0:1.0:0.0:0.0	.	742;742;742;742;742	B5A929;E7EQ94;B5A930;P08581-2;P08581	.;.;.;.;MET_HUMAN	L	742;742;742;22	ENSP00000380860:P742L;ENSP00000317272:P742L;ENSP00000410980:P742L;ENSP00000398776:P22L	ENSP00000317272:P742L	P	+	2	0	MET	116185871	0.999000	0.42202	0.981000	0.43875	0.020000	0.10135	5.571000	0.67404	2.718000	0.92993	0.585000	0.79938	CCC		0.368	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			9	214	0	0	0	1	0	9	214				
ASAP1	50807	broad.mit.edu	37	8	131130743	131130743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:131130743G>A	ENST00000518721.1	-	19	2013	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	ASAP1_ENST00000357668.1_Missense_Mutation_p.P596S	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	596					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.P596S(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACCTGCCCAGGTTCCAGCAGT	0.363																																						ENST00000357668.1																			1	Substitution - Missense(1)	p.P596S(1)	skin(1)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1786-1788)Cct>Tct		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							104.0	96.0	99.0					8																	131130743		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131130743G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1786C>T	8.37:g.131130743G>A	ENSP00000429900:p.Pro596Ser					ASAP1_ENST00000518721.1_Missense_Mutation_p.P596S	p.P596S			Q9ULH1	ASAP1_HUMAN			18	1813	-			596					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1786C>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.14|11.14	1.549891|1.549891	0.27652|0.27652	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.63096|.	-0.02;-0.02|.	5.65|5.65	2.91|2.91	0.33838|0.33838	Ankyrin repeat-containing domain (2);|.	0.670270|.	0.15811|.	N|.	0.243448|.	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.11756|0.11756	0.17|0.17	0.31048|0.31048	N|N	0.715591|0.715591	B;B;B|.	0.11235|.	0.004;0.004;0.003|.	B;B;B|.	0.06405|.	0.002;0.002;0.001|.	T|T	0.27536|0.27536	-1.0071|-1.0071	10|5	0.51188|.	T|.	0.08|.	.|.	8.2654|8.2654	0.31810|0.31810	0.3009:0.0:0.6991:0.0|0.3009:0.0:0.6991:0.0	.|.	596;596;599|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	S|I	599;596;596|416;9	ENSP00000350297:P596S;ENSP00000429900:P596S|.	ENSP00000344591:P599S|.	P|T	-|-	1|2	0|0	ASAP1|ASAP1	131199925|131199925	0.999000|0.999000	0.42202|0.42202	0.256000|0.256000	0.24389|0.24389	0.730000|0.730000	0.41778|0.41778	1.468000|1.468000	0.35332|0.35332	0.345000|0.345000	0.23873|0.23873	0.650000|0.650000	0.86243|0.86243	CCT|ACC		0.363	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		9	83	0	0	0	1	0	9	83				
TRIP12	9320	broad.mit.edu	37	2	230679905	230679905	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:230679905G>A	ENST00000283943.5	-	10	1675	c.1497C>T	c.(1495-1497)aaC>aaT	p.N499N	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.N202N|TRIP12_ENST00000389044.4_Silent_p.N547N	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	499					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GACAAGCATGGTTCATCTAGA	0.318																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1495-1497)aaC>aaT		thyroid hormone receptor interactor 12							114.0	116.0	116.0					2																	230679905		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230679905G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1497C>T	2.37:g.230679905G>A						TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.N202N|TRIP12_ENST00000389044.4_Silent_p.N547N	p.N499N	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	10	1675	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	499					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.1497C>T	CCDS33391.1																																																																																				0.318	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		36	72	0	0	0	1	0	36	72				
PCDHGB4	8641	broad.mit.edu	37	5	140767929	140767929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140767929G>A	ENST00000519479.1	+	1	478	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	160	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCATGATGCGGATATTGG	0.418																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(478-480)Gcg>Acg									87.0	85.0	86.0					5																	140767929		1968	4166	6134	SO:0001583	missense	0							g.chr5:140767929G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.478G>A	5.37:g.140767929G>A	ENSP00000428288:p.Ala160Thr					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A160T	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	478	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.478G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	14.20	2.463539	0.43736	.	.	ENSG00000253953	ENST00000519479	T	0.55234	0.53	4.99	2.97	0.34412	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67306	0.2879	M	0.85630	2.765	0.22112	N	0.999353	B;P	0.37276	0.257;0.589	B;P	0.46208	0.287;0.507	T	0.63642	-0.6591	9	0.66056	D	0.02	.	15.4197	0.75000	0.0:0.4675:0.5325:0.0	.	160;160	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	T	160	ENSP00000428288:A160T	ENSP00000428288:A160T	A	+	1	0	PCDHGB4	140748113	0.005000	0.15991	0.963000	0.40424	0.088000	0.18126	0.723000	0.25939	1.185000	0.42971	0.655000	0.94253	GCG		0.418	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		22	42	0	0	0	1	0	22	42				
SF1	7536	broad.mit.edu	37	11	64532866	64532866	+	3'UTR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64532866C>T	ENST00000377390.3	-	0	2681				SF1_ENST00000422298.2_3'UTR|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377394.3_Missense_Mutation_p.A571T|SF1_ENST00000334944.5_Missense_Mutation_p.A638T|SF1_ENST00000377387.1_3'UTR|SF1_ENST00000227503.9_3'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATAACTCAGGCTGCTTTGCCG	0.478																																						ENST00000334944.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(1912-1914)Gcc>Acc		splicing factor 1							116.0	124.0	122.0					11																	64532866		2201	4297	6498	SO:0001624	3_prime_UTR_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64532866C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.*424G>A	11.37:g.64532866C>T						SF1_ENST00000377390.3_3'UTR|SF1_ENST00000377387.1_3'UTR|SF1_ENST00000377394.3_Missense_Mutation_p.A571T|SF1_ENST00000227503.9_3'UTR|SF1_ENST00000422298.2_3'UTR	p.A638T	NM_201995.2	NP_973724.1	Q15637	SF01_HUMAN			14	2305	-			0					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.1912G>A	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462777	0.43736	.	.	ENSG00000168066	ENST00000377394;ENST00000334944	T;T	0.59638	0.25;0.77	5.36	4.39	0.52855	.	.	.	.	.	T	0.47875	0.1469	.	.	.	0.80722	D	1	B;B	0.20459	0.045;0.026	B;B	0.17098	0.017;0.017	T	0.51004	-0.8760	8	0.87932	D	0	.	10.5114	0.44864	0.1931:0.8069:0.0:0.0	.	571;638	Q15637-6;Q15637-2	.;.	T	571;638	ENSP00000366611:A571T;ENSP00000334414:A638T	ENSP00000334414:A638T	A	-	1	0	SF1	64289442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.464000	0.35288	2.504000	0.84457	0.462000	0.41574	GCC		0.478	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		7	146	0	0	0	1	0	7	146				
ISLR	3671	broad.mit.edu	37	15	74468114	74468114	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74468114G>A	ENST00000249842.3	+	2	1272	c.915G>A	c.(913-915)caG>caA	p.Q305Q	ISLR_ENST00000395118.1_Silent_p.Q305Q|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	305	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CGCGCTTCCAGGCCTTTGCCA	0.632																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(913-915)caG>caA		immunoglobulin superfamily containing leucine-rich repeat							48.0	50.0	49.0					15																	74468114		2198	4295	6493	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74468114G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.915G>A	15.37:g.74468114G>A						RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.Q305Q	p.Q305Q	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	1272	+			305			Ig-like.			Silent	SNP	ENST00000249842.3	37	c.915G>A	CCDS10260.1																																																																																				0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		30	60	0	0	0	1	0	30	60				
RIMKLB	57494	broad.mit.edu	37	12	8906596	8906596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:8906596C>T	ENST00000538135.1	+	5	1429	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	RIMKLB_ENST00000535829.1_Missense_Mutation_p.R202W|RIMKLB_ENST00000357529.3_Missense_Mutation_p.R202W|RIMKLB_ENST00000299673.5_3'UTR			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	202	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTCTCATGGACGGGATGTACG	0.463																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(604-606)Cgg>Tgg		ribosomal modification protein rimK-like family member B							188.0	168.0	174.0					12																	8906596		1945	4143	6088	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8906596C>T	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.604C>T	12.37:g.8906596C>T	ENSP00000440943:p.Arg202Trp					RIMKLB_ENST00000538135.1_Missense_Mutation_p.R202W|RIMKLB_ENST00000535829.1_Missense_Mutation_p.R202W|RIMKLB_ENST00000299673.5_3'UTR	p.R202W	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			6	1866	+			202			ATP-grasp.		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.604C>T	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121828	0.77436	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	4.83	2.89	0.33648	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.085365	0.47093	U	0.000251	T	0.76709	0.4025	M	0.79123	2.44	0.53688	D	0.999972	D;D	0.89917	1.0;0.999	D;D	0.70935	0.951;0.971	T	0.77925	-0.2405	9	0.72032	D	0.01	.	12.167	0.54135	0.4845:0.5154:0.0:0.0	.	202;202	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	W	202	.	ENSP00000350136:R202W	R	+	1	2	RIMKLB	8797863	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.722000	0.47269	0.474000	0.27392	0.591000	0.81541	CGG		0.463	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		4	110	0	0	0	1	0	4	110				
ZNF621	285268	broad.mit.edu	37	3	40571748	40571748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:40571748G>A	ENST00000339296.5	+	4	652	c.200G>A	c.(199-201)gGg>gAg	p.G67E	ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000403205.2_Missense_Mutation_p.G67E|ZNF621_ENST00000310898.1_Missense_Mutation_p.G67E	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	67	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CTGGAGAGAGGGGAAGCACCA	0.502																																						ENST00000339296.5																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(199-201)gGg>gAg		zinc finger protein 621							124.0	117.0	119.0					3																	40571748		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40571748G>A	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.200G>A	3.37:g.40571748G>A	ENSP00000340841:p.Gly67Glu					ZNF621_ENST00000403205.2_Missense_Mutation_p.G67E|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000310898.1_Missense_Mutation_p.G67E|ZNF621_ENST00000490457.1_3'UTR	p.G67E	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	4	652	+			67			KRAB.		Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.200G>A	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	16.49	3.137786	0.56936	.	.	ENSG00000172888	ENST00000403205;ENST00000310898;ENST00000339296;ENST00000453351	T;T;T;T	0.41758	5.57;0.99;5.57;0.99	3.79	1.7	0.24286	Krueppel-associated box (3);	0.180670	0.27052	N	0.021161	T	0.51244	0.1663	L	0.48174	1.505	0.22213	N	0.999288	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.966	T	0.32666	-0.9898	10	0.87932	D	0	.	7.2471	0.26127	0.2672:0.0:0.7328:0.0	.	67;67	C9JM43;Q6ZSS3	.;ZN621_HUMAN	E	67	ENSP00000386051:G67E;ENSP00000312144:G67E;ENSP00000340841:G67E;ENSP00000408779:G67E	ENSP00000312144:G67E	G	+	2	0	ZNF621	40546752	0.978000	0.34361	0.990000	0.47175	0.887000	0.51463	1.192000	0.32150	0.428000	0.26173	0.655000	0.94253	GGG		0.502	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		18	36	0	0	0	1	0	18	36				
USP34	9736	broad.mit.edu	37	2	61415706	61415706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:61415706C>T	ENST00000398571.2	-	80	10248	c.10172G>A	c.(10171-10173)aGa>aAa	p.R3391K	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3391					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGAGGAGTCTCTGGTCTCATT	0.453																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(10171-10173)aGa>aAa		ubiquitin specific peptidase 34							111.0	107.0	108.0					2																	61415706		1977	4150	6127	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415706C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10172G>A	2.37:g.61415706C>T	ENSP00000381577:p.Arg3391Lys						p.R3391K	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10248	-			3391					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.10172G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	24.3	4.513753	0.85389	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	T	0.03951	3.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	L	0.27053	0.805	0.53688	D	0.999974	P	0.44690	0.841	P	0.57204	0.815	T	0.43410	-0.9393	10	0.18276	T	0.48	.	19.8041	0.96521	0.0:1.0:0.0:0.0	.	3391	Q70CQ2	UBP34_HUMAN	K	3239;3156;3391;269	ENSP00000381577:R3391K	ENSP00000263989:R3239K	R	-	2	0	USP34	61269210	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.150000	0.77403	2.748000	0.94277	0.591000	0.81541	AGA		0.453	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			5	94	0	0	0	1	0	5	94				
SCN10A	6336	broad.mit.edu	37	3	38753922	38753922	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:38753922G>A	ENST00000449082.2	-	22	3818	c.3819C>T	c.(3817-3819)gcC>gcT	p.A1273A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1273					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CGCCCACCAGGGCATCCACCA	0.542																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3817-3819)gcC>gcT		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						77.0	76.0	76.0					3																	38753922		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38753922G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3819C>T	3.37:g.38753922G>A							p.A1273A	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	22	3818	-			1273					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.3819C>T	CCDS33736.1																																																																																				0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		40	50	0	0	0	1	0	40	50				
DYSF	8291	broad.mit.edu	37	2	71730365	71730365	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:71730365C>T	ENST00000258104.3	+	4	535	c.258C>T	c.(256-258)gtC>gtT	p.V86V	DYSF_ENST00000409582.3_Silent_p.V86V|DYSF_ENST00000409651.1_Silent_p.V87V|DYSF_ENST00000409366.1_Silent_p.V87V|DYSF_ENST00000410020.3_Silent_p.V87V|DYSF_ENST00000429174.2_Silent_p.V86V|DYSF_ENST00000410041.1_Silent_p.V87V|DYSF_ENST00000409762.1_Silent_p.V86V|DYSF_ENST00000409744.1_Silent_p.V87V|DYSF_ENST00000413539.2_Silent_p.V86V|DYSF_ENST00000394120.2_Silent_p.V87V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	86					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)			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						AAGCCAAGGTCCCACTCCGAG	0.597																																						ENST00000258104.3																			0				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	GRCh37	CM074151	DYSF	M		c.(256-258)gtC>gtT		dysferlin							116.0	118.0	118.0					2																	71730365		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71730365C>T	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.258C>T	2.37:g.71730365C>T						DYSF_ENST00000409582.3_Silent_p.V86V|DYSF_ENST00000394120.2_Silent_p.V87V|DYSF_ENST00000429174.2_Silent_p.V86V|DYSF_ENST00000413539.2_Silent_p.V86V|DYSF_ENST00000410041.1_Silent_p.V87V|DYSF_ENST00000410020.3_Silent_p.V87V|DYSF_ENST00000409744.1_Silent_p.V87V|DYSF_ENST00000409651.1_Silent_p.V87V|DYSF_ENST00000409366.1_Silent_p.V87V|DYSF_ENST00000409762.1_Silent_p.V86V	p.V86V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			4	535	+			86					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.258C>T	CCDS1918.1																																																																																				0.597	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		6	116	0	0	0	1	0	6	116				
VPS72	6944	broad.mit.edu	37	1	151158381	151158381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:151158381C>T	ENST00000354473.4	-	2	199	c.163G>A	c.(163-165)Gac>Aac	p.D55N	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	55	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCACTTCGTCCTCTGTGTCT	0.517																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(163-165)Gac>Aac		vacuolar protein sorting 72 homolog (S. cerevisiae)							137.0	121.0	127.0					1																	151158381		2203	4300	6503	SO:0001583	missense	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151158381C>T	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.163G>A	1.37:g.151158381C>T	ENSP00000346464:p.Asp55Asn					VPS72_ENST00000496809.1_5'UTR	p.D55N	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	199	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		55			Asp/Glu-rich (acidic).		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	ENST00000354473.4	37	c.163G>A	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172524	0.94807	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.84597	0.5507	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87123	0.2192	9	0.59425	D	0.04	-3.8467	18.4824	0.90817	0.0:1.0:0.0:0.0	.	55	Q15906	VPS72_HUMAN	N	55	.	ENSP00000346464:D55N	D	-	1	0	VPS72	149425005	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.376000	0.79658	2.691000	0.91804	0.561000	0.74099	GAC		0.517	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		6	94	0	0	0	1	0	6	94				
DENND4A	10260	broad.mit.edu	37	15	66048650	66048650	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:66048650C>T	ENST00000431932.2	-	3	347	c.139G>A	c.(139-141)Gat>Aat	p.D47N	DENND4A_ENST00000443035.3_Missense_Mutation_p.D47N	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	47	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ACTGAAACATCTGTAATAGGT	0.363																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(139-141)Gat>Aat		DENN/MADD domain containing 4A							75.0	70.0	72.0					15																	66048650		1822	4078	5900	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66048650C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.139G>A	15.37:g.66048650C>T	ENSP00000396830:p.Asp47Asn					DENND4A_ENST00000431932.2_Missense_Mutation_p.D47N	p.D47N	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			3	354	-			47			MABP.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.139G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358429	0.95854	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.25912	1.77;1.77	5.6	5.6	0.85130	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	T	0.62534	-0.6834	10	0.87932	D	0	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	47;47;47	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	N	47	ENSP00000391167:D47N;ENSP00000396830:D47N	ENSP00000396830:D47N	D	-	1	0	DENND4A	63835704	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.630000	0.89119	0.591000	0.81541	GAT		0.363	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		18	23	0	0	0	1	0	18	23				
TRMT2A	27037	broad.mit.edu	37	22	20100305	20100305	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:20100305G>A	ENST00000252136.7	-	12	2047	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	AC006547.8_ENST00000412713.1_RNA|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Silent_p.A571A|TRMT2A_ENST00000404751.3_Missense_Mutation_p.P561S|TRMT2A_ENST00000403707.3_Silent_p.A553A	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	553					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						GGTTAGATGGGGCTCTGCAGA	0.632																																						ENST00000404751.3																			0				breast(2)|endometrium(2)|lung(5)	9						c.(1681-1683)Ccc>Tcc		tRNA methyltransferase 2 homolog A (S. cerevisiae)							26.0	31.0	29.0					22																	20100305		2202	4300	6502	SO:0001819	synonymous_variant	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20100305G>A	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1659C>T	22.37:g.20100305G>A						TRMT2A_ENST00000439169.2_Silent_p.A571A|TRMT2A_ENST00000403707.3_Silent_p.A553A|TRMT2A_ENST00000252136.7_Silent_p.A553A	p.P561S			Q8IZ69	TRM2A_HUMAN			12	2019	-			0					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.1681C>T	CCDS13774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.863156|1.863156	0.32884|0.32884	.|.	.|.	ENSG00000099899|ENSG00000099899	ENST00000444256|ENST00000404751	.|.	.|.	.|.	5.32|5.32	2.1|2.1	0.27182|0.27182	.|.	.|.	.|.	.|.	.|.	T|T	0.40767|0.40767	0.1130|0.1130	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.09729|0.09729	-1.0661|-1.0661	4|5	.|0.20046	.|T	.|0.44	-25.4106|-25.4106	4.1678|4.1678	0.10315|0.10315	0.2226:0.0:0.4972:0.2802|0.2226:0.0:0.4972:0.2802	.|.	.|.	.|.	.|.	L|S	71|561	.|.	.|ENSP00000384968:P561S	P|P	-|-	2|1	0|0	TRMT2A|TRMT2A	18480305|18480305	0.863000|0.863000	0.29885|0.29885	0.996000|0.996000	0.52242|0.52242	0.894000|0.894000	0.52154|0.52154	-0.042000|-0.042000	0.12063|0.12063	0.386000|0.386000	0.24997|0.24997	0.561000|0.561000	0.74099|0.74099	CCC|CCC		0.632	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		3	55	0	0	0	1	0	3	55				
PSORS1C2	170680	broad.mit.edu	37	6	31106774	31106774	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31106774G>A	ENST00000259845.4	-	1	353	c.30C>T	c.(28-30)atC>atT	p.I10I	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000547221.1_Intron	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	10						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AAAGGACCAGGATCCCCAGGA	0.582																																						ENST00000259845.4																			0				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(28-30)atC>atT		psoriasis susceptibility 1 candidate 2							124.0	104.0	111.0					6																	31106774		2203	4300	6503	SO:0001819	synonymous_variant	170680					extracellular region		g.chr6:31106774G>A	AB031480	CCDS4694.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204538	ENSG00000204538			17199	protein-coding gene	gene with protein product		613526	"""chromosome 6 open reading frame 17"""	C6orf17			Standard	NM_014069		Approved	SPR1	uc003nso.4	Q9UIG4	OTTHUMG00000031081	ENST00000259845.4:c.30C>T	6.37:g.31106774G>A						PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000547221.1_Intron|PSORS1C1_ENST00000259881.9_Intron	p.I10I	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN			1	353	-			10					Q5STD0	Silent	SNP	ENST00000259845.4	37	c.30C>T	CCDS4694.1																																																																																				0.582	PSORS1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076115.3			23	34	0	0	0	1	0	23	34				
B3GALT1	8708	broad.mit.edu	37	2	168725631	168725631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:168725631C>T	ENST00000392690.3	+	1	174	c.82C>T	c.(82-84)Cct>Tct	p.P28S	B3GALT1_ENST00000305861.1_Missense_Mutation_p.P28S|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	28					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TATAACTCGCCCTACTTCTTC	0.463																																						ENST00000305861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(82-84)Cct>Tct		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1							133.0	128.0	130.0					2																	168725631		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168725631C>T	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.82C>T	2.37:g.168725631C>T	ENSP00000376456:p.Pro28Ser					B3GALT1_ENST00000392690.2_Missense_Mutation_p.P28S|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA	p.P28S	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN			2	433	+			28					D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.82C>T	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354975	0.24512	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.36520	1.25;1.25	5.75	5.75	0.90469	.	0.060541	0.64402	D	0.000003	T	0.24314	0.0589	N	0.08118	0	0.58432	D	0.999999	B	0.11235	0.004	B	0.06405	0.002	T	0.04976	-1.0914	10	0.31617	T	0.26	-14.3325	20.3046	0.98621	0.0:1.0:0.0:0.0	.	28	Q9Y5Z6	B3GT1_HUMAN	S	28	ENSP00000303740:P28S;ENSP00000376456:P28S	ENSP00000303740:P28S	P	+	1	0	B3GALT1	168433877	1.000000	0.71417	0.992000	0.48379	0.923000	0.55619	5.701000	0.68325	2.878000	0.98634	0.650000	0.86243	CCT		0.463	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		4	108	0	0	0	1	0	4	108				
ANKFY1	51479	broad.mit.edu	37	17	4100822	4100822	+	Missense_Mutation	SNP	C	C	T	rs577444406		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4100822C>T	ENST00000341657.4	-	8	984	c.949G>A	c.(949-951)Gct>Act	p.A317T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A359T|ANKFY1_ENST00000433651.1_Missense_Mutation_p.A317T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A317T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	317					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGTGTAGCAGCGTTGACAAAG	0.478																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(949-951)Gct>Act		ankyrin repeat and FYVE domain containing 1							67.0	65.0	65.0					17																	4100822		2003	4178	6181	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4100822C>T	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.949G>A	17.37:g.4100822C>T	ENSP00000343362:p.Ala317Thr					ANKFY1_ENST00000433651.1_Missense_Mutation_p.A317T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A317T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A359T	p.A317T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			8	984	-			317					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.949G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.983156	0.74474	.	.	ENSG00000185722	ENST00000341657;ENST00000535427;ENST00000433651	T;T	0.55588	0.52;0.51	4.65	4.65	0.58169	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	L	0.37561	1.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.982;0.989;0.986;0.986	D;P;P;P;P	0.83275	0.996;0.496;0.664;0.534;0.557	T	0.53578	-0.8419	10	0.14252	T	0.57	-12.425	16.689	0.85316	0.0:1.0:0.0:0.0	.	258;317;317;317;359	F5H754;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;.;ANFY1_HUMAN;.;.	T	317;258;317	ENSP00000343362:A317T;ENSP00000416005:A317T	ENSP00000343362:A317T	A	-	1	0	ANKFY1	4047571	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.840000	0.69402	2.399000	0.81585	0.561000	0.74099	GCT		0.478	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		11	24	0	0	0	1	0	11	24				
TMTC1	83857	broad.mit.edu	37	12	29659824	29659824	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:29659824G>A	ENST00000539277.1	-	18	2662	c.2604C>T	c.(2602-2604)cgC>cgT	p.R868R	TMTC1_ENST00000551659.1_Silent_p.R930R|TMTC1_ENST00000552618.1_Silent_p.R892R|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Silent_p.R760R	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTTTTCTAGGCGATCCAATT	0.453																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2278-2280)cgC>cgT		transmembrane and tetratricopeptide repeat containing 1							267.0	260.0	263.0					12																	29659824		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29659824G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2604C>T	12.37:g.29659824G>A						TMTC1_ENST00000551659.1_Silent_p.R930R|TMTC1_ENST00000552618.1_Silent_p.R892R|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Silent_p.R868R	p.R760R	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			18	2753	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		868					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.2280C>T	CCDS53772.1																																																																																				0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		12	110	0	0	0	1	0	12	110				
PDE8B	8622	broad.mit.edu	37	5	76704857	76704857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:76704857G>A	ENST00000264917.5	+	14	1550	c.1505G>A	c.(1504-1506)aGt>aAt	p.S502N	PDE8B_ENST00000340978.3_Missense_Mutation_p.S455N|PDE8B_ENST00000346042.3_Missense_Mutation_p.S405N|PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000505283.1_5'Flank|PDE8B_ENST00000342343.4_Missense_Mutation_p.S482N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	502					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CCTCACACCAGTGATCTTGTT	0.502																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1504-1506)aGt>aAt		phosphodiesterase 8B							75.0	70.0	72.0					5																	76704857		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76704857G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1505G>A	5.37:g.76704857G>A	ENSP00000264917:p.Ser502Asn					PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000342343.4_Missense_Mutation_p.S482N|PDE8B_ENST00000346042.3_Missense_Mutation_p.S405N|PDE8B_ENST00000340978.3_Missense_Mutation_p.S455N	p.S502N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	14	1550	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	502					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1505G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	6.875	0.530847	0.13127	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343	T;T;T;T	0.70749	-0.51;-0.44;-0.51;-0.51	4.48	4.48	0.54585	.	0.085653	0.85682	D	0.000000	T	0.55832	0.1945	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.13145	0.004;0.007;0.007;0.004	B;B;B;B	0.19666	0.026;0.026;0.026;0.012	T	0.51228	-0.8732	10	0.16420	T	0.52	.	17.5311	0.87815	0.0:0.0:1.0:0.0	.	405;455;482;502	O95263-2;O95263-6;O95263-4;O95263	.;.;.;PDE8B_HUMAN	N	455;405;502;482	ENSP00000345446:S455N;ENSP00000330428:S405N;ENSP00000264917:S502N;ENSP00000345646:S482N	ENSP00000264917:S502N	S	+	2	0	PDE8B	76740613	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	5.037000	0.64170	2.200000	0.70718	0.561000	0.74099	AGT		0.502	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		5	40	0	0	0	1	0	5	40				
KCNA6	3742	broad.mit.edu	37	12	4920063	4920063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:4920063C>T	ENST00000280684.3	+	1	1722	c.856C>T	c.(856-858)Cct>Tct	p.P286S	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.P286S			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	286					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTCCGCCTGCCCTAGCAAGCC	0.547										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(856-858)Cct>Tct		potassium voltage-gated channel, shaker-related subfamily, member 6							91.0	85.0	87.0					12																	4920063		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920063C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.856C>T	12.37:g.4920063C>T	ENSP00000280684:p.Pro286Ser	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.P286S	p.P286S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1722	+			286						Missense_Mutation	SNP	ENST00000280684.3	37	c.856C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341352	0.81911	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97480	-4.4;-4.4	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98670	0.9554	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99541	1.0963	10	0.87932	D	0	.	18.0942	0.89483	0.0:1.0:0.0:0.0	.	286	P17658	KCNA6_HUMAN	S	286	ENSP00000408321:P286S;ENSP00000280684:P286S	ENSP00000280684:P286S	P	+	1	0	KCNA6	4790324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.592000	0.82676	2.746000	0.94184	0.655000	0.94253	CCT		0.547	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		14	124	0	0	0	1	0	14	124				
ZNF808	388558	broad.mit.edu	37	19	53057725	53057725	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:53057725C>T	ENST00000359798.4	+	5	1736	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTGGCAATACCTTCCGTCAC	0.438																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1555-1557)aCc>aTc		zinc finger protein 808							134.0	144.0	141.0					19																	53057725		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057725C>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1556C>T	19.37:g.53057725C>T	ENSP00000352846:p.Thr519Ile						p.T519I	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1736	+			519					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1556C>T	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	5.319	0.244147	0.10077	.	.	ENSG00000198482	ENST00000359798	T	0.36157	1.27	1.5	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31263	0.0791	M	0.76727	2.345	0.09310	N	1	B	0.20261	0.043	B	0.20384	0.029	T	0.41124	-0.9526	9	0.87932	D	0	.	0.9972	0.01470	0.326:0.2259:0.309:0.1391	.	519	Q8N4W9	ZN808_HUMAN	I	519	ENSP00000352846:T519I	ENSP00000352846:T519I	T	+	2	0	ZNF808	57749537	.	.	0.000000	0.03702	0.028000	0.11728	.	.	-1.482000	0.01860	-1.086000	0.02197	ACC		0.438	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		26	159	0	0	0	1	0	26	159				
LIN54	132660	broad.mit.edu	37	4	83905679	83905679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83905679G>A	ENST00000340417.3	-	2	696	c.319C>T	c.(319-321)Cct>Tct	p.P107S	LIN54_ENST00000395282.2_Missense_Mutation_p.P107S|LIN54_ENST00000506560.1_Missense_Mutation_p.P107S|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.P107S|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.P107S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	107					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ATAGTCACAGGAGTCTGAGCA	0.383																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(319-321)Cct>Tct		lin-54 homolog (C. elegans)							215.0	215.0	215.0					4																	83905679		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905679G>A	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.319C>T	4.37:g.83905679G>A	ENSP00000341947:p.Pro107Ser					LIN54_ENST00000395282.2_Missense_Mutation_p.P107S|LIN54_ENST00000505397.1_Missense_Mutation_p.P107S|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.P107S|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.P107S|LIN54_ENST00000510557.1_Intron	p.P107S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			2	696	-		Hepatocellular(203;0.114)	107					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.319C>T	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.040040	0.19669	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.36	5.36	0.76844	.	0.060085	0.64402	D	0.000002	T	0.38665	0.1049	N	0.24115	0.695	0.49915	D	0.999839	P;P	0.43826	0.793;0.818	B;B	0.39562	0.303;0.262	T	0.18366	-1.0339	9	0.12766	T	0.61	-13.1651	17.2517	0.87044	0.0:0.0:1.0:0.0	.	107;107	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	S	107	.	ENSP00000341947:P107S	P	-	1	0	LIN54	84124703	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.512000	0.60469	2.505000	0.84491	0.655000	0.94253	CCT		0.383	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		30	190	0	0	0	1	0	30	190				
PLCL1	5334	broad.mit.edu	37	2	198949677	198949677	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:198949677C>T	ENST00000428675.1	+	2	1834	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A381V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	479	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AATAAATTTGCCTTTGTTGCT	0.398																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1435-1437)gCc>gTc		phospholipase C-like 1	Quinacrine(DB01103)						66.0	65.0	65.0					2																	198949677		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949677C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1436C>T	2.37:g.198949677C>T	ENSP00000402861:p.Ala479Val					PLCL1_ENST00000437704.2_Missense_Mutation_p.A381V	p.A479V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1834	+			479			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1436C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210097	0.79240	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.72615	-0.67;-0.67	5.94	5.94	0.96194	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000003	D	0.89375	0.6697	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91259	0.5035	9	.	.	.	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	479;405	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	479;381	ENSP00000402861:A479V;ENSP00000414138:A381V	.	A	+	2	0	PLCL1	198657922	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.808000	0.86044	2.826000	0.97356	0.561000	0.74099	GCC		0.398	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		8	63	0	0	0	1	0	8	63				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	37	0	0	0	1	0	3	37				
NR2F2	7026	broad.mit.edu	37	15	96880846	96880846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:96880846C>T	ENST00000394166.3	+	3	2629	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	NR2F2_ENST00000453270.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000394171.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000421109.2_Nonsense_Mutation_p.Q281*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	414	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TATGGCAATTCAATAAATAAA	0.378																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(1240-1242)Caa>Taa		nuclear receptor subfamily 2, group F, member 2							59.0	66.0	63.0					15																	96880846		2197	4298	6495	SO:0001587	stop_gained	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96880846C>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.1240C>T	15.37:g.96880846C>T	ENSP00000377721:p.Gln414*					NR2F2_ENST00000394171.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000421109.2_Nonsense_Mutation_p.Q281*|NR2F2_ENST00000453270.2_Nonsense_Mutation_p.Q261*	p.Q414*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		3	2629	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		414			Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Nonsense_Mutation	SNP	ENST00000394166.3	37	c.1240C>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	41	8.976000	0.99023	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9156	0.97061	0.0:1.0:0.0:0.0	.	.	.	.	X	281;414;261;261	.	ENSP00000377721:Q414X	Q	+	1	0	NR2F2	94681850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.698000	0.92095	0.650000	0.86243	CAA		0.378	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			6	122	0	0	0	1	0	6	122				
SGK223	157285	broad.mit.edu	37	8	8176542	8176542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:8176542C>T	ENST00000520004.1	-	6	3607	c.3343G>A	c.(3343-3345)Gcg>Acg	p.A1115T	SGK223_ENST00000330777.4_Missense_Mutation_p.A1115T			Q86YV5	SG223_HUMAN		1117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGCTCGTACGCCTCGGGCTCC	0.667																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3343-3345)Gcg>Acg									76.0	84.0	81.0					8																	8176542		2083	4206	6289	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176542C>T																												ENST00000520004.1:c.3343G>A	8.37:g.8176542C>T	ENSP00000428054:p.Ala1115Thr					SGK223_ENST00000330777.4_Missense_Mutation_p.A1115T	p.A1115T			Q86YV5	SG223_HUMAN			6	3607	-			1115			Protein kinase.		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3343G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005412	0.35415	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.65364	-0.15;-0.15	5.48	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.547580	0.19720	N	0.107606	T	0.49236	0.1545	L	0.39898	1.24	0.23478	N	0.997598	P	0.39717	0.684	B	0.35182	0.197	T	0.42832	-0.9428	10	0.39692	T	0.17	.	9.6784	0.40054	0.0:0.6567:0.2693:0.074	.	1115	Q86YV5	SG223_HUMAN	T	1115	ENSP00000330930:A1115T;ENSP00000428054:A1115T	ENSP00000330930:A1115T	A	-	1	0	AC068353.1	8213952	0.147000	0.22687	0.772000	0.31596	0.867000	0.49689	0.525000	0.22956	1.422000	0.47177	0.467000	0.42956	GCG		0.667	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			46	97	0	0	0	1	0	46	97				
BCL2L15	440603	broad.mit.edu	37	1	114424437	114424437	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114424437C>T	ENST00000393316.3	-	3	603	c.432G>A	c.(430-432)ggG>ggA	p.G144G	BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000488450.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000471267.1_Intron	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	144					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCTTGGTTCCCATTGATCA	0.493																																						ENST00000393316.3																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9						c.(430-432)ggG>ggA		BCL2-like 15							88.0	83.0	85.0					1																	114424437		2203	4300	6503	SO:0001819	synonymous_variant	440603				apoptosis			g.chr1:114424437C>T		CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 178"""	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.432G>A	1.37:g.114424437C>T						BCL2L15_ENST00000471267.1_Intron|BCL2L15_ENST00000393320.3_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000488450.1_5'UTR	p.G144G	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	603	-	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)	144					A0PJY6|A8K074|I6LA82	Silent	SNP	ENST00000393316.3	37	c.432G>A	CCDS30809.1																																																																																				0.493	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	NM_001010922		11	21	0	0	0	1	0	11	21				
LRRC4B	94030	broad.mit.edu	37	19	51022155	51022155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:51022155G>A	ENST00000599957.1	-	3	1012	c.815C>T	c.(814-816)gCc>gTc	p.A272V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A272V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	272					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTCGTCGAAGGCGTTGCGCTC	0.657																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(814-816)gCc>gTc		leucine rich repeat containing 4B							70.0	81.0	77.0					19																	51022155		2182	4275	6457	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022155G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.815C>T	19.37:g.51022155G>A	ENSP00000471502:p.Ala272Val					LRRC4B_ENST00000389201.3_Missense_Mutation_p.A272V	p.A272V			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1012	-		all_neural(266;0.131)	272					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.815C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222621	0.79464	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.59083	0.29	4.05	4.05	0.47172	.	0.000000	0.85682	U	0.000000	T	0.60314	0.2259	L	0.49778	1.585	0.80722	D	1	D	0.58970	0.984	P	0.50405	0.64	T	0.66337	-0.5949	10	0.72032	D	0.01	.	14.1137	0.65139	0.0:0.0:1.0:0.0	.	272	Q9NT99	LRC4B_HUMAN	V	272	ENSP00000373853:A272V	ENSP00000373853:A272V	A	-	2	0	LRRC4B	55713967	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.648000	0.98483	2.274000	0.75844	0.561000	0.74099	GCC		0.657	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		26	44	0	0	0	1	0	26	44				
CFAP54	144535	broad.mit.edu	37	12	97150248	97150248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:97150248G>A	ENST00000524981.4	+	57	7876	c.7853G>A	c.(7852-7854)cGt>cAt	p.R2618H				Q96N23	CL055_HUMAN		0																	AAAATAGAACGTCAAATACTA	0.308																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(3205-3207)cGt>cAt									54.0	59.0	57.0					12																	97150248		2202	4299	6501	SO:0001583	missense	0							g.chr12:97150248G>A																												ENST00000524981.4:c.7853G>A	12.37:g.97150248G>A	ENSP00000431759:p.Arg2618His						p.R1069H			Q6ZTY8	CL063_HUMAN			24	3206	+			1043						Missense_Mutation	SNP	ENST00000524981.4	37	c.3206G>A		.	.	.	.	.	.	.	.	.	.	G	16.00	2.998849	0.54147	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.55	3.72	0.42706	.	0.401759	0.23378	N	0.048833	T	0.33876	0.0878	L	0.51422	1.61	0.27573	N	0.949817	B	0.29037	0.231	B	0.21917	0.037	T	0.21895	-1.0232	9	0.44086	T	0.13	-0.384	9.2273	0.37414	0.073:0.0:0.7819:0.1451	.	1043	Q6ZTY8	CL063_HUMAN	H	2618;1043	.	ENSP00000345466:R1043H	R	+	2	0	C12orf63	95674379	0.998000	0.40836	0.981000	0.43875	0.911000	0.54048	3.193000	0.50997	0.812000	0.34326	0.655000	0.94253	CGT		0.308	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			23	24	0	0	0	1	0	23	24				
ACACB	32	broad.mit.edu	37	12	109696128	109696128	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:109696128G>A	ENST00000338432.7	+	46	6438	c.6319G>A	c.(6319-6321)Gca>Aca	p.A2107T	ACACB_ENST00000377848.3_Missense_Mutation_p.A2107T|ACACB_ENST00000377854.5_Missense_Mutation_p.A2037T|ACACB_ENST00000543201.1_Missense_Mutation_p.A773T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2107	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGTGGAGGTGGCAGTCCCTGC	0.637																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6319-6321)Gca>Aca		acetyl-CoA carboxylase beta	Biotin(DB00121)						64.0	56.0	59.0					12																	109696128		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109696128G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6319G>A	12.37:g.109696128G>A	ENSP00000341044:p.Ala2107Thr					ACACB_ENST00000543201.1_Missense_Mutation_p.A773T|ACACB_ENST00000377854.5_Missense_Mutation_p.A2037T|ACACB_ENST00000377848.3_Missense_Mutation_p.A2107T	p.A2107T			O00763	ACACB_HUMAN			46	6438	+			2107			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.6319G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	6.940	0.543277	0.13250	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.14	4.25	0.50352	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.592179	0.18400	N	0.142387	T	0.11665	0.0284	N	0.02181	-0.65	0.29963	N	0.819195	B	0.06786	0.001	B	0.06405	0.002	T	0.12993	-1.0526	10	0.09590	T	0.72	.	12.7059	0.57060	0.0811:0.0:0.9189:0.0	.	2107	O00763	ACACB_HUMAN	T	2107;2107;2037;1338;773	ENSP00000341044:A2107T;ENSP00000367079:A2107T;ENSP00000367085:A2037T;ENSP00000444075:A773T	ENSP00000341044:A2107T	A	+	1	0	ACACB	108180511	0.751000	0.28327	0.839000	0.33178	0.020000	0.10135	2.236000	0.43052	1.319000	0.45190	0.561000	0.74099	GCA		0.637	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		4	6	0	0	0	1	0	4	6				
SPG11	80208	broad.mit.edu	37	15	44892674	44892674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:44892674G>A	ENST00000261866.7	-	21	3693	c.3677C>T	c.(3676-3678)cCc>cTc	p.P1226L	SPG11_ENST00000427534.2_Missense_Mutation_p.P1226L|SPG11_ENST00000535302.2_Missense_Mutation_p.P1226L|SPG11_ENST00000558319.1_Missense_Mutation_p.P1226L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1226					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGCTGCTTGGGAGTCTTGCT	0.418																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(3676-3678)cCc>cTc		spastic paraplegia 11 (autosomal recessive)							105.0	119.0	114.0					15																	44892674		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44892674G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3677C>T	15.37:g.44892674G>A	ENSP00000261866:p.Pro1226Leu					SPG11_ENST00000558319.1_Missense_Mutation_p.P1226L|SPG11_ENST00000427534.2_Missense_Mutation_p.P1226L|SPG11_ENST00000535302.2_Missense_Mutation_p.P1226L	p.P1226L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	21	3693	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1226					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.3677C>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126455	0.77549	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79352	-1.26;-1.26;-1.26	5.64	5.64	0.86602	.	0.219762	0.41938	D	0.000789	D	0.84552	0.5497	M	0.72118	2.19	0.80722	D	1	D;P;D	0.53745	0.962;0.663;0.962	P;P;P	0.53006	0.715;0.468;0.715	D	0.85845	0.1400	10	0.66056	D	0.02	.	19.2998	0.94140	0.0:0.0:1.0:0.0	.	1226;1226;1226	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	L	1226	ENSP00000261866:P1226L;ENSP00000445278:P1226L;ENSP00000396110:P1226L	ENSP00000261866:P1226L	P	-	2	0	SPG11	42679966	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.222000	0.72249	2.643000	0.89663	0.650000	0.86243	CCC		0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			7	148	0	0	0	1	0	7	148				
NUP43	348995	broad.mit.edu	37	6	150057606	150057606	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:150057606C>T	ENST00000340413.2	-	6	867		c.e6+1		NUP43_ENST00000367404.4_Intron|NUP43_ENST00000460354.2_Splice_Site|NUP43_ENST00000367403.3_Splice_Site	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa						carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACAATACTTACTTTCAGCTTC	0.368																																						ENST00000340413.2																			0				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.e6+1		nucleoporin 43kDa							104.0	87.0	93.0					6																	150057606		2203	4300	6503	SO:0001630	splice_region_variant	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150057606C>T	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.790+1G>A	6.37:g.150057606C>T						NUP43_ENST00000460354.2_Splice_Site|NUP43_ENST00000367403.3_Splice_Site|NUP43_ENST00000367404.4_Intron		NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	6	867	-		Ovarian(120;0.0164)						B4E2F0|Q9H8S0	Splice_Site	SNP	ENST00000340413.2	37		CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749187	0.89753	.	.	ENSG00000120253	ENST00000340413;ENST00000460354	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP43	150099299	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.450000	0.80656	2.688000	0.91661	0.603000	0.83216	.		0.368	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887	Intron	12	21	0	0	0	1	0	12	21				
ZNF770	54989	broad.mit.edu	37	15	35274292	35274292	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:35274292C>T	ENST00000356321.4	-	3	1688	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	448					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TAAAGAATTCCTCACCTGATG	0.353																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1342-1344)gaG>gaA		zinc finger protein 770							85.0	88.0	87.0					15																	35274292		2201	4298	6499	SO:0001819	synonymous_variant	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274292C>T	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1344G>A	15.37:g.35274292C>T							p.E448E	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1688	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	448					Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	37	c.1344G>A	CCDS10042.1																																																																																				0.353	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		22	64	0	0	0	1	0	22	64				
KL	9365	broad.mit.edu	37	13	33628054	33628054	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:33628054C>T	ENST00000380099.3	+	2	978	c.970C>T	c.(970-972)Cta>Tta	p.L324L	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Silent_p.L17L	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	324	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGACTTTGTACTAGGTTGGTT	0.433																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(970-972)Cta>Tta		klotho							177.0	170.0	172.0					13																	33628054		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628054C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.970C>T	13.37:g.33628054C>T						KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Silent_p.L17L	p.L324L	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	978	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	324			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.970C>T	CCDS9347.1																																																																																				0.433	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			49	89	0	0	0	1	0	49	89				
ALOX5	240	broad.mit.edu	37	10	45919513	45919513	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:45919513C>T	ENST00000374391.2	+	5	632	c.579C>T	c.(577-579)cgC>cgT	p.R193R	ALOX5_ENST00000542434.1_Silent_p.R193R	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	193	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TCATCAACCGCTTCATGCACA	0.517																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(577-579)cgC>cgT		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						346.0	320.0	329.0					10																	45919513		2203	4300	6503	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45919513C>T	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.579C>T	10.37:g.45919513C>T						ALOX5_ENST00000542434.1_Silent_p.R193R	p.R193R	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			5	632	+		Lung SC(717;0.0257)	193			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.579C>T	CCDS7212.1																																																																																				0.517	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			25	378	0	0	0	1	0	25	378				
SPTBN2	6712	broad.mit.edu	37	11	66460732	66460732	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:66460732G>A	ENST00000533211.1	-	24	5110	c.4779C>T	c.(4777-4779)ttC>ttT	p.F1593F	SPTBN2_ENST00000529997.1_Silent_p.F1593F|SPTBN2_ENST00000309996.2_Silent_p.F1593F			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1593					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CATCGCGGTAGAACTGCTGGG	0.637																																						ENST00000533211.1																			0				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						c.(4777-4779)ttC>ttT		spectrin, beta, non-erythrocytic 2							67.0	70.0	69.0					11																	66460732		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460732G>A	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.4779C>T	11.37:g.66460732G>A						SPTBN2_ENST00000529997.1_Silent_p.F1593F|SPTBN2_ENST00000309996.2_Silent_p.F1593F	p.F1593F			O15020	SPTN2_HUMAN			24	5110	-			1593					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.4779C>T	CCDS8150.1																																																																																				0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	65	0	0	0	1	0	5	65				
PCDH19	57526	broad.mit.edu	37	X	99663152	99663152	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:99663152G>A	ENST00000373034.4	-	1	2119	c.444C>T	c.(442-444)atC>atT	p.I148I	PCDH19_ENST00000255531.7_Silent_p.I148I|PCDH19_ENST00000420881.2_Silent_p.I148I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	148	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGTCCAGCGGGATGCGCGTGC	0.607																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(442-444)atC>atT		protocadherin 19							84.0	83.0	83.0					X																	99663152		2124	4219	6343	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663152G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.444C>T	X.37:g.99663152G>A						PCDH19_ENST00000255531.7_Silent_p.I148I|PCDH19_ENST00000420881.2_Silent_p.I148I	p.I148I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2119	-			148			Cadherin 2.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.444C>T	CCDS55462.1																																																																																				0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		29	79	0	0	0	1	0	29	79				
SUPT16H	11198	broad.mit.edu	37	14	21825504	21825504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21825504C>T	ENST00000216297.2	-	22	2850	c.2512G>A	c.(2512-2514)Gat>Aat	p.D838N		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	838					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|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)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTACCTCATCCAATGTCACC	0.398																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2512-2514)Gat>Aat		suppressor of Ty 16 homolog (S. cerevisiae)							88.0	73.0	78.0					14																	21825504		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21825504C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2512G>A	14.37:g.21825504C>T	ENSP00000216297:p.Asp838Asn						p.D838N	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	22	2850	-	all_cancers(95;0.00115)		838					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2512G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011188	0.93346	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.43	5.43	0.79202	Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	L	0.54323	1.7	0.80722	D	1	P	0.46987	0.888	P	0.50934	0.654	T	0.59768	-0.7392	9	0.28530	T	0.3	-23.4212	18.0282	0.89275	0.0:1.0:0.0:0.0	.	838	Q9Y5B9	SP16H_HUMAN	N	838	.	ENSP00000216297:D838N	D	-	1	0	SUPT16H	20895344	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.031000	0.76491	2.544000	0.85801	0.655000	0.94253	GAT		0.398	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			3	45	0	0	0	1	0	3	45				
MBD1	4152	broad.mit.edu	37	18	47792728	47792728	+	IGR	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:47792728G>A	ENST00000591416.1	-	0	4905				CCDC11_ENST00000398545.4_Missense_Mutation_p.P16L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTTGGGGGTGGGGCCCTTAAC	0.622																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(46-48)cCc>cTc		coiled-coil domain containing 11							99.0	108.0	105.0					18																	47792728		1968	4170	6138	SO:0001628	intergenic_variant	220136							g.chr18:47792728G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669		18.37:g.47792728G>A							p.P16L	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	1	164	-			16					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.47C>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405202	0.62288	.	.	ENSG00000172361	ENST00000398545	T	0.41065	1.01	4.22	4.22	0.49857	.	0.000000	0.44688	U	0.000426	T	0.54287	0.1849	L	0.59436	1.845	0.58432	D	0.999992	D	0.64830	0.994	P	0.59825	0.864	T	0.56306	-0.8001	10	0.66056	D	0.02	-1.627	12.3867	0.55336	0.0:0.0:1.0:0.0	.	16	Q96M91	CCD11_HUMAN	L	16	ENSP00000381553:P16L	ENSP00000381553:P16L	P	-	2	0	CCDC11	46046726	1.000000	0.71417	0.995000	0.50966	0.291000	0.27294	3.817000	0.55668	2.653000	0.90120	0.563000	0.77884	CCC		0.622	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		9	70	0	0	0	1	0	9	70				
IRS4	8471	broad.mit.edu	37	X	107977593	107977593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:107977593C>T	ENST00000372129.2	-	1	2058	c.1982G>A	c.(1981-1983)aGa>aAa	p.R661K	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	661					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGTGGCTCCTCTGTCAACACA	0.522																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1981-1983)aGa>aAa		insulin receptor substrate 4							261.0	266.0	265.0					X																	107977593		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977593C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1982G>A	X.37:g.107977593C>T	ENSP00000361202:p.Arg661Lys						p.R661K	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2058	-			661						Missense_Mutation	SNP	ENST00000372129.2	37	c.1982G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004476	0.35320	.	.	ENSG00000133124	ENST00000372129	T	0.34667	1.35	4.6	3.74	0.42951	.	0.143615	0.42682	D	0.000678	T	0.26268	0.0641	L	0.44542	1.39	0.21386	N	0.999704	B	0.06786	0.001	B	0.06405	0.002	T	0.16482	-1.0401	10	0.20046	T	0.44	-15.3421	7.7239	0.28748	0.0:0.8836:0.0:0.1164	.	661	O14654	IRS4_HUMAN	K	661	ENSP00000361202:R661K	ENSP00000361202:R661K	R	-	2	0	IRS4	107864249	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	1.766000	0.38491	1.061000	0.40601	-0.191000	0.12829	AGA		0.522	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		131	245	0	0	0	1	0	131	245				
PAPOLB	56903	broad.mit.edu	37	7	4899957	4899957	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4899957G>A	ENST00000404991.1	-	1	1668	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	494					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GCAGCAGCTGGTGAAGTTCCT	0.408																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1480-1482)caC>caT		poly(A) polymerase beta (testis specific)							76.0	70.0	72.0					7																	4899957		2008	4208	6216	SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899957G>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1482C>T	7.37:g.4899957G>A						RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.H494H	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1668	-		Ovarian(82;0.0175)	494					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.1482C>T																																																																																					0.408	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		23	68	0	0	0	1	0	23	68				
TJP3	27134	broad.mit.edu	37	19	3740758	3740758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:3740758G>A	ENST00000541714.2	+	14	2302	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	TJP3_ENST00000382008.3_Missense_Mutation_p.E628K|TJP3_ENST00000587686.1_Missense_Mutation_p.E633K|TJP3_ENST00000589378.1_Missense_Mutation_p.E623K|TJP3_ENST00000539908.2_Missense_Mutation_p.E578K|TJP3_ENST00000262968.9_Missense_Mutation_p.E647K	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	614	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.E647K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTTGCGAGAAGGTGGGGC	0.627																																						ENST00000541714.2																			1	Substitution - Missense(1)	p.E647K(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1840-1842)Gaa>Aaa		tight junction protein 3							15.0	16.0	16.0					19																	3740758		2202	4295	6497	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3740758G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1840G>A	19.37:g.3740758G>A	ENSP00000439278:p.Glu614Lys					TJP3_ENST00000587686.1_Missense_Mutation_p.E633K|TJP3_ENST00000589378.1_Missense_Mutation_p.E623K|TJP3_ENST00000262968.9_Missense_Mutation_p.E647K|TJP3_ENST00000382008.3_Missense_Mutation_p.E628K|TJP3_ENST00000539908.2_Missense_Mutation_p.E578K	p.E614K	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	14	2302	+			628			Guanylate kinase-like.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1840G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467667	0.84533	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10763	2.84;3.02;2.84;2.91	5.0	5.0	0.66597	Guanylate kinase/L-type calcium channel (1);	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.999;0.999;0.996;0.988	T	0.35649	-0.9780	10	0.87932	D	0	.	16.8553	0.86004	0.0:0.0:1.0:0.0	.	633;647;628;614	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	K	614;578;628;647	ENSP00000439278:E614K;ENSP00000439991:E578K;ENSP00000371438:E628K;ENSP00000262968:E647K	ENSP00000262968:E647K	E	+	1	0	TJP3	3691758	1.000000	0.71417	0.999000	0.59377	0.299000	0.27559	9.529000	0.98049	2.286000	0.76751	0.655000	0.94253	GAA		0.627	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			3	25	0	0	0	1	0	3	25				
CDK2AP1	8099	broad.mit.edu	37	12	123746287	123746287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123746287G>A	ENST00000261692.2	-	4	865	c.344C>T	c.(343-345)tCc>tTc	p.S115F	RP11-282O18.3_ENST00000543217.2_RNA|RP11-282O18.3_ENST00000542427.2_RNA|CDK2AP1_ENST00000544658.1_Missense_Mutation_p.S87F|CDK2AP1_ENST00000538446.1_Missense_Mutation_p.S87F|RP11-282O18.3_ENST00000541002.3_RNA|RP11-282O18.7_ENST00000602352.1_RNA|CDK2AP1_ENST00000542174.1_Missense_Mutation_p.S87F|RP11-282O18.3_ENST00000544890.1_RNA|CDK2AP1_ENST00000535979.1_Missense_Mutation_p.S87F	NM_001270433.1|NM_001270434.1|NM_004642.3	NP_001257362.1|NP_001257363.1|NP_004633.1	O14519	CDKA1_HUMAN	cyclin-dependent kinase 2 associated protein 1	115					cell cycle (GO:0007049)|DNA-dependent DNA replication (GO:0006261)|positive regulation of protein phosphorylation (GO:0001934)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA polymerase binding (GO:0070182)			lung(2)|stomach(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		AGGCAGCTAGGATCTGGCATT	0.468																																						ENST00000542174.1																			0				lung(2)|stomach(1)	3						c.(259-261)tCc>tTc		cyclin-dependent kinase 2 associated protein 1							158.0	141.0	147.0					12																	123746287		2203	4300	6503	SO:0001583	missense	8099				DNA-dependent DNA replication|protein phosphorylation|S phase of mitotic cell cycle	cytoplasm|nucleus	DNA binding|protein binding	g.chr12:123746287G>A	AB006077	CCDS9245.1, CCDS58289.1	12q24	2008-11-04	2008-11-04		ENSG00000111328	ENSG00000111328			14002	protein-coding gene	gene with protein product		602198	"""CDK2-associated protein 1"""			9331572, 9506968	Standard	NM_004642		Approved	DORC1, doc-1, DOC1, ST19, p12DOC-1	uc001ueq.4	O14519	OTTHUMG00000168854	ENST00000261692.2:c.344C>T	12.37:g.123746287G>A	ENSP00000261692:p.Ser115Phe					CDK2AP1_ENST00000544658.1_Missense_Mutation_p.S87F|CDK2AP1_ENST00000261692.2_Missense_Mutation_p.S115F|CDK2AP1_ENST00000538446.1_Missense_Mutation_p.S87F|CDK2AP1_ENST00000535979.1_Missense_Mutation_p.S87F	p.S87F			O14519	CDKA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)	3	1083	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		115					F5GYA4	Missense_Mutation	SNP	ENST00000261692.2	37	c.260C>T	CCDS9245.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861076	0.91433	.	.	ENSG00000111328	ENST00000261692;ENST00000538446;ENST00000535979;ENST00000542174;ENST00000544658	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	M	0.73962	2.25	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	T	0.81095	-0.1088	9	0.87932	D	0	-18.3923	20.1542	0.98100	0.0:0.0:1.0:0.0	.	115	O14519	CDKA1_HUMAN	F	115;87;87;87;87	.	ENSP00000261692:S115F	S	-	2	0	CDK2AP1	122312240	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.444000	0.97578	2.767000	0.95098	0.563000	0.77884	TCC		0.468	CDK2AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401387.1	NM_004642		6	219	0	0	0	1	0	6	219				
NFKBIB	4793	broad.mit.edu	37	19	39396139	39396139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39396139G>A	ENST00000313582.5	+	3	617	c.583G>A	c.(583-585)Gac>Aac	p.D195N	NFKBIB_ENST00000572515.1_Missense_Mutation_p.D195N|NFKBIB_ENST00000392079.3_Missense_Mutation_p.D163N	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	195	Asp/Glu-rich (acidic).				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GAGTGAGGAGGACTGGAAGCT	0.617																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000392079.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(487-489)Gac>Aac		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							59.0	59.0	59.0					19																	39396139		2203	4300	6503	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39396139G>A	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.583G>A	19.37:g.39396139G>A	ENSP00000312988:p.Asp195Asn					NFKBIB_ENST00000572515.1_Missense_Mutation_p.D195N|NFKBIB_ENST00000313582.5_Missense_Mutation_p.D195N	p.D163N			Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		3	585	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		195					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.487G>A	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393501	0.42410	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.57436	0.4;0.65	4.82	4.82	0.62117	Ankyrin repeat-containing domain (2);	0.112916	0.39759	N	0.001277	T	0.50120	0.1597	N	0.19112	0.55	0.37548	D	0.918571	P;D;B	0.57257	0.884;0.979;0.099	P;P;B	0.54270	0.516;0.747;0.016	T	0.58284	-0.7663	10	0.59425	D	0.04	-31.042	13.5984	0.62004	0.0:0.0:1.0:0.0	.	218;163;195	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	N	218;195;163	ENSP00000312988:D195N;ENSP00000375929:D163N	ENSP00000312988:D195N	D	+	1	0	NFKBIB	44087979	1.000000	0.71417	0.999000	0.59377	0.613000	0.37349	1.885000	0.39678	2.646000	0.89796	0.655000	0.94253	GAC		0.617	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		4	75	0	0	0	1	0	4	75				
PSAPL1	768239	broad.mit.edu	37	4	7435429	7435429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:7435429C>T	ENST00000319098.4	-	1	1271	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	393	Saposin B-type 4. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				lung(4)	4						GCAGAAGCTGCCCTGGTTCTC	0.622																																						ENST00000319098.4																			0				lung(4)	4						c.(1177-1179)gGc>gAc		prosaposin-like 1 (gene/pseudogene)							37.0	40.0	39.0					4																	7435429		2111	4228	6339	SO:0001583	missense	0				sphingolipid metabolic process	extracellular region|lysosome		g.chr4:7435429C>T	DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.1178G>A	4.37:g.7435429C>T	ENSP00000317445:p.Gly393Asp					SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	p.G393D	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN			1	1271	-			393			Saposin B-type 4.		A0A184|Q8N7T4	Missense_Mutation	SNP	ENST00000319098.4	37	c.1178G>A	CCDS47009.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910853	0.33721	.	.	ENSG00000178597	ENST00000319098	D	0.84070	-1.8	3.62	0.544	0.17185	Saposin-like (2);Saposin B (1);	0.360579	0.30901	N	0.008651	T	0.69663	0.3136	L	0.41906	1.305	0.46260	D	0.99895	P	0.37955	0.612	B	0.34824	0.19	T	0.63829	-0.6548	10	0.87932	D	0	1.1559	3.9432	0.09336	0.4173:0.4609:0.0:0.1217	.	393	Q6NUJ1	SAPL1_HUMAN	D	393	ENSP00000317445:G393D	ENSP00000317445:G393D	G	-	2	0	PSAPL1	7486330	0.327000	0.24678	0.993000	0.49108	0.055000	0.15305	0.535000	0.23114	0.325000	0.23359	0.561000	0.74099	GGC		0.622	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1			26	31	0	0	0	1	0	26	31				
FARSB	10056	broad.mit.edu	37	2	223497936	223497936	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:223497936T>G	ENST00000281828.6	-	7	960	c.697A>C	c.(697-699)Atg>Ctg	p.M233L	FARSB_ENST00000536361.1_Missense_Mutation_p.M134L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	233					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATGGGAGGCATTGAAAGGACG	0.353																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(697-699)Atg>Ctg		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						124.0	121.0	122.0					2																	223497936		2203	4299	6502	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223497936T>G	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.697A>C	2.37:g.223497936T>G	ENSP00000281828:p.Met233Leu					FARSB_ENST00000536361.1_Missense_Mutation_p.M134L	p.M233L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	7	960	-		Renal(207;0.0183)	233					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.697A>C	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	T	6.748	0.506843	0.12883	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.27402	1.67;1.67	5.29	5.29	0.74685	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.035049	0.85682	N	0.000000	T	0.13457	0.0326	N	0.03917	-0.325	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.002;0.008	T	0.11131	-1.0600	10	0.02654	T	1	-19.9497	15.5476	0.76118	0.0:0.0:0.0:1.0	.	233;233	A8K666;Q9NSD9	.;SYFB_HUMAN	L	233;134	ENSP00000281828:M233L;ENSP00000442950:M134L	ENSP00000281828:M233L	M	-	1	0	FARSB	223206180	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.490000	0.81461	2.139000	0.66308	0.392000	0.25879	ATG		0.353	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		5	93	0	0	0	1	0	5	93				
FCAMR	83953	broad.mit.edu	37	1	207135714	207135714	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207135714A>G	ENST00000324852.4	-	5	970	c.496T>C	c.(496-498)Tat>Cat	p.Y166H	FCAMR_ENST00000400962.3_Missense_Mutation_p.Y166H|FCAMR_ENST00000486178.1_5'Flank|FCAMR_ENST00000450945.2_Missense_Mutation_p.Y166H	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	121	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CGGTCACGATAGCGATGGTGA	0.567																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(496-498)Tat>Cat		Fc receptor, IgA, IgM, high affinity							109.0	99.0	102.0					1																	207135714		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207135714A>G	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.496T>C	1.37:g.207135714A>G	ENSP00000316491:p.Tyr166His					FCAMR_ENST00000400962.3_Missense_Mutation_p.Y166H|FCAMR_ENST00000450945.2_Missense_Mutation_p.Y166H	p.Y166H	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN			5	970	-			121			Ig-like V-type.		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.496T>C	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.567257	0.45694	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	T;T;T	0.67345	-0.26;-0.26;-0.26	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000044	T	0.80385	0.4613	M	0.76002	2.32	0.34812	D	0.737807	D;D;B;D	0.89917	1.0;1.0;0.434;0.993	D;D;B;D	0.97110	0.999;1.0;0.437;0.982	D	0.86732	0.1949	10	0.62326	D	0.03	-17.3762	12.1879	0.54250	1.0:0.0:0.0:0.0	.	121;141;121;121	Q8WWV6-4;D2KTA8;Q8WWV6-2;Q8WWV6	.;.;.;FCAMR_HUMAN	H	166;166;166;142	ENSP00000383746:Y166H;ENSP00000316491:Y166H;ENSP00000392707:Y166H	ENSP00000316491:Y166H	Y	-	1	0	FCAMR	205202337	1.000000	0.71417	0.287000	0.24848	0.012000	0.07955	3.127000	0.50484	2.131000	0.65755	0.533000	0.62120	TAT		0.567	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		4	60	0	0	0	1	0	4	60				
POF1B	79983	broad.mit.edu	37	X	84600896	84600896	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:84600896G>A	ENST00000262753.4	-	6	838	c.693C>T	c.(691-693)tgC>tgT	p.C231C	POF1B_ENST00000373145.3_Silent_p.C231C	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	231						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATCCACTATGGCACAGTTCAT	0.403																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(691-693)tgC>tgT		premature ovarian failure, 1B							223.0	190.0	201.0					X																	84600896		2203	4300	6503	SO:0001819	synonymous_variant	79983						actin binding	g.chrX:84600896G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.693C>T	X.37:g.84600896G>A						POF1B_ENST00000373145.3_Silent_p.C231C	p.C231C	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			6	838	-			231					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	c.693C>T	CCDS14452.1																																																																																				0.403	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		22	143	0	0	0	1	0	22	143				
ARHGAP12	94134	broad.mit.edu	37	10	32197348	32197348	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:32197348C>T	ENST00000344936.2	-	3	670	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.V146I|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.V146I|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.V146I|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.V146I	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	146					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTTAGGTTGACAGTCTGACCT	0.428																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(436-438)Gtc>Atc		Rho GTPase activating protein 12							135.0	130.0	132.0					10																	32197348		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197348C>T	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.436G>A	10.37:g.32197348C>T	ENSP00000345808:p.Val146Ile					ARHGAP12_ENST00000311380.4_Missense_Mutation_p.V146I|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.V146I|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.V146I|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.V146I	p.V146I	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			3	677	-		Prostate(175;0.0199)	146					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.436G>A	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	6.883	0.532361	0.13127	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.07567	3.23;3.18;3.24;3.24;3.23	5.31	-8.41	0.00961	.	1.327720	0.04652	N	0.407257	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001	T	0.42666	-0.9438	10	0.21014	T	0.42	.	6.8746	0.24139	0.1097:0.4769:0.1841:0.2293	.	146;146;146;146;146;146	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	I	146	ENSP00000310984:V146I;ENSP00000364399:V146I;ENSP00000345808:V146I;ENSP00000379448:V146I;ENSP00000364394:V146I	ENSP00000310984:V146I	V	-	1	0	ARHGAP12	32237354	0.000000	0.05858	0.021000	0.16686	0.812000	0.45895	-0.765000	0.04730	-1.141000	0.02873	-0.147000	0.13772	GTC		0.428	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			5	108	0	0	0	1	0	5	108				
KIF14	9928	broad.mit.edu	37	1	200584562	200584562	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:200584562G>A	ENST00000367350.4	-	3	1726	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	430	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTAGGAGTGGTGCTGCTAGC	0.388																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(1288-1290)Cca>Tca		kinesin family member 14							91.0	88.0	89.0					1																	200584562		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200584562G>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1288C>T	1.37:g.200584562G>A	ENSP00000356319:p.Pro430Ser						p.P430S	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			3	1726	-			430			Kinesin-motor.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.1288C>T	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035862	0.93630	.	.	ENSG00000118193	ENST00000367350	T	0.74526	-0.85	5.64	5.64	0.86602	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.83390	0.5244	M	0.64170	1.965	0.80722	D	1	P	0.45986	0.87	P	0.56278	0.795	T	0.83152	-0.0103	10	0.59425	D	0.04	.	20.0723	0.97728	0.0:0.0:1.0:0.0	.	430	Q15058	KIF14_HUMAN	S	430	ENSP00000356319:P430S	ENSP00000356319:P430S	P	-	1	0	KIF14	198851185	1.000000	0.71417	0.321000	0.25320	0.998000	0.95712	9.319000	0.96338	2.819000	0.97034	0.650000	0.86243	CCA		0.388	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		4	73	0	0	0	1	0	4	73				
CNTNAP2	26047	broad.mit.edu	37	7	147675008	147675008	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:147675008G>A	ENST00000361727.3	+	15	2826	c.2310G>A	c.(2308-2310)gtG>gtA	p.V770V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	770	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGAGCCAAGTGGTGGTTGGAG	0.493										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2308-2310)gtG>gtA		contactin associated protein-like 2							141.0	126.0	131.0					7																	147675008		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147675008G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2310G>A	7.37:g.147675008G>A		HNSCC(39;0.1)					p.V770V	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		15	2826	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	770			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2310G>A	CCDS5889.1																																																																																				0.493	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			17	79	0	0	0	1	0	17	79				
RBM25	58517	broad.mit.edu	37	14	73569942	73569942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:73569942G>A	ENST00000261973.7	+	10	1195	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	RBM25_ENST00000527432.1_Missense_Mutation_p.E304K	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	304	Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agaaagacaggaaattgagaa	0.408																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(910-912)Gaa>Aaa		RNA binding motif protein 25							67.0	62.0	64.0					14																	73569942		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73569942G>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.910G>A	14.37:g.73569942G>A	ENSP00000261973:p.Glu304Lys					RBM25_ENST00000527432.1_Missense_Mutation_p.E304K	p.E304K	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	10	1195	+			304			Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.910G>A	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276457	0.40294	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.40476	1.03;1.03	5.35	5.35	0.76521	.	0.331224	0.38548	N	0.001641	T	0.36936	0.0985	L	0.44542	1.39	0.80722	D	1	B	0.24132	0.098	B	0.24541	0.054	T	0.11717	-1.0576	10	0.17369	T	0.5	.	17.208	0.86923	0.0:0.0:1.0:0.0	.	304	P49756	RBM25_HUMAN	K	304	ENSP00000261973:E304K;ENSP00000431150:E304K	ENSP00000261973:E304K	E	+	1	0	RBM25	72639695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.619000	0.74219	2.665000	0.90641	0.591000	0.81541	GAA		0.408	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		15	15	0	0	0	1	0	15	15				
ADAMTS12	81792	broad.mit.edu	37	5	33751555	33751555	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:33751555C>T	ENST00000504830.1	-	3	923	c.588G>A	c.(586-588)agG>agA	p.R196R	ADAMTS12_ENST00000352040.3_Silent_p.R196R|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Silent_p.R196R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	196					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTCTGCCTCCTGTAAACGA	0.463										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(586-588)agG>agA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							146.0	144.0	145.0					5																	33751555		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33751555C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.588G>A	5.37:g.33751555C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.R196R|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Silent_p.R196R	p.R196R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			3	923	-			196					A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.588G>A	CCDS34140.1																																																																																				0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		6	61	0	0	0	1	0	6	61				
KRTAP10-6	386674	broad.mit.edu	37	21	46011675	46011675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46011675G>A	ENST00000400368.1	-	1	711	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	231	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGCAGACGGGCACGCAGCAG	0.647																																						ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(691-693)Ccc>Tcc		keratin associated protein 10-6							126.0	136.0	133.0					21																	46011675		2203	4300	6503	SO:0001583	missense	386674					keratin filament		g.chr21:46011675G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.691C>T	21.37:g.46011675G>A	ENSP00000383219:p.Pro231Ser					TSPEAR_ENST00000323084.4_Intron	p.P231S	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	711	-			231			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.691C>T	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	a	8.306	0.821028	0.16678	.	.	ENSG00000188155	ENST00000400368	T	0.04119	3.7	2.88	1.96	0.26148	.	.	.	.	.	T	0.06280	0.0162	L	0.58354	1.805	0.09310	N	1	B	0.28233	0.204	B	0.30572	0.117	T	0.33420	-0.9869	9	0.44086	T	0.13	.	5.3963	0.16271	0.2814:0.0:0.7186:0.0	.	231	P60371	KR106_HUMAN	S	231	ENSP00000383219:P231S	ENSP00000383219:P231S	P	-	1	0	KRTAP10-6	44836103	0.041000	0.20044	0.001000	0.08648	0.013000	0.08279	0.288000	0.18939	0.524000	0.28502	0.400000	0.26472	CCC		0.647	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		8	270	0	0	0	1	0	8	270				
CXCR2P1	3580	broad.mit.edu	37	2	218925783	218925783	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:218925783C>T	ENST00000439871.1	-	0	597					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		AGCTAGACCACCTGGCACAGA	0.542																																						ENST00000439871.1																			0																																																			0							g.chr2:218925783C>T	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925783C>T								NR_002712.1						0	597	-									RNA	SNP	ENST00000439871.1	37																																																																																						0.542	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		8	12	0	0	0	1	0	8	12				
TBCC	6903	broad.mit.edu	37	6	42713649	42713649	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:42713649C>T	ENST00000372876.1	-	1	185	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TBCC_ENST00000244625.2_Missense_Mutation_p.E55K	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	55					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGGCTGTTCTCCTTCTCTACC	0.617																																						ENST00000244625.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(163-165)Gag>Aag		tubulin folding cofactor C							85.0	78.0	80.0					6																	42713649		2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713649C>T	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.163G>A	6.37:g.42713649C>T	ENSP00000361967:p.Glu55Lys					TBCC_ENST00000372876.1_Missense_Mutation_p.E55K	p.E55K			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	726	-	Colorectal(47;0.196)		55					Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.163G>A	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835822	0.71373	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.15256	2.44;2.44	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.30446	-0.9978	10	0.72032	D	0.01	-1.4046	18.3311	0.90270	0.0:1.0:0.0:0.0	.	55	Q15814	TBCC_HUMAN	K	55	ENSP00000361967:E55K;ENSP00000244625:E55K	ENSP00000244625:E55K	E	-	1	0	TBCC	42821627	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	7.238000	0.78173	2.500000	0.84329	0.557000	0.71058	GAG		0.617	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		29	49	0	0	0	1	0	29	49				
HECTD4	283450	broad.mit.edu	37	12	112721013	112721013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:112721013G>A	ENST00000430131.2	-	8	1392	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	HECTD4_ENST00000377560.5_Missense_Mutation_p.L333F|HECTD4_ENST00000550722.1_Missense_Mutation_p.L333F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	83					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTACTTAGAAGCATCTCATTA	0.458																																						ENST00000550722.1																			0											c.(997-999)Ctt>Ttt		HECT domain containing E3 ubiquitin protein ligase 4							114.0	104.0	107.0					12																	112721013		1904	4131	6035	SO:0001583	missense	283450							g.chr12:112721013G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.247C>T	12.37:g.112721013G>A	ENSP00000404379:p.Leu83Phe					HECTD4_ENST00000430131.2_Missense_Mutation_p.L83F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L333F	p.L333F	NM_001109662.3	NP_001103132.3					8	1392	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.997C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.493040	0.96339	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.57595	0.67;0.39;0.65	5.75	5.75	0.90469	.	.	.	.	.	T	0.59905	0.2228	N	0.14661	0.345	0.53005	D	0.999962	D	0.65815	0.995	D	0.72982	0.979	T	0.66172	-0.5990	9	0.87932	D	0	.	19.9501	0.97195	0.0:0.0:1.0:0.0	.	83	Q9Y4D8	K0614_HUMAN	F	333;83;333	ENSP00000366783:L333F;ENSP00000404379:L83F;ENSP00000449784:L333F	ENSP00000366783:L333F	L	-	1	0	C12orf51	111205396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.732000	0.93576	0.655000	0.94253	CTT		0.458	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		16	26	0	0	0	1	0	16	26				
CYFIP1	23191	broad.mit.edu	37	15	22928147	22928147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:22928147G>A	ENST00000313077.7	+	4	351	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	CYFIP1_ENST00000560848.1_Missense_Mutation_p.G76S	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCTGGAGGAGGGCCAAGAATA	0.572																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(226-228)Ggc>Agc		cytoplasmic FMR1 interacting protein 1							110.0	108.0	109.0					15																	22928147		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22928147G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.226G>A	15.37:g.22928147G>A	ENSP00000324549:p.Gly76Ser					CYFIP1_ENST00000560848.1_Missense_Mutation_p.G76S	p.G76S	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	4	351	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	76						Missense_Mutation	SNP	ENST00000313077.7	37	c.226G>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528628	0.96446	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.41400	1.0	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.994;0.995	T	0.74714	-0.3572	10	0.49607	T	0.09	-32.6309	19.5226	0.95192	0.0:0.0:1.0:0.0	.	104;76	E7EQ04;Q7L576	.;CYFP1_HUMAN	S	76;104	ENSP00000324549:G76S	ENSP00000324549:G76S	G	+	1	0	CYFIP1	20479588	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.700000	0.98707	2.690000	0.91761	0.555000	0.69702	GGC		0.572	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		4	82	0	0	0	1	0	4	82				
FGFR1OP	11116	broad.mit.edu	37	6	167417853	167417853	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:167417853C>T	ENST00000366847.4	+	5	633	c.402C>T	c.(400-402)cgC>cgT	p.R134R	FGFR1OP_ENST00000349556.4_Silent_p.R134R|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	134					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TGATCAGGCGCTGTCAACAGA	0.413			T	FGFR1	"""MPD, NHL"""																																	ENST00000366847.3				Dom	yes		6	6q27	11116	T	FGFR1 oncogene partner (FOP)			L	FGFR1		"""MPD, NHL"""		0				large_intestine(2)|ovary(1)|stomach(1)	4						c.(400-402)cgC>cgT		FGFR1 oncogene partner							81.0	81.0	81.0					6																	167417853		2203	4300	6503	SO:0001819	synonymous_variant	11116				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:167417853C>T	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.402C>T	6.37:g.167417853C>T						FGFR1OP_ENST00000349556.4_Silent_p.R134R	p.R134R	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)	5	633	+		Breast(66;1.48e-05)|Ovarian(120;0.0607)	134					A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Silent	SNP	ENST00000366847.4	37	c.402C>T	CCDS5296.1																																																																																				0.413	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045		30	43	0	0	0	1	0	30	43				
GTF2H1	2965	broad.mit.edu	37	11	18363099	18363099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:18363099G>A	ENST00000265963.4	+	7	942	c.782G>A	c.(781-783)gGa>gAa	p.G261E	GTF2H1_ENST00000534641.1_Missense_Mutation_p.G145E|GTF2H1_ENST00000453096.2_Missense_Mutation_p.G261E|GTF2H1_ENST00000524753.4_Missense_Mutation_p.G57E	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	261					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GTTTCATTAGGAGTGAAAAAC	0.323								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(781-783)gGa>gAa	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							100.0	110.0	106.0					11																	18363099		2199	4292	6491	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18363099G>A		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.782G>A	11.37:g.18363099G>A	ENSP00000265963:p.Gly261Glu					GTF2H1_ENST00000534641.1_Missense_Mutation_p.G145E|GTF2H1_ENST00000524753.4_Missense_Mutation_p.G57E|GTF2H1_ENST00000453096.2_Missense_Mutation_p.G261E	p.G261E	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			7	942	+			261					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.782G>A	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986626	0.93106	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753	T;T;T;T	0.31247	2.03;2.02;2.03;1.5	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	L	0.52905	1.665	0.80722	D	1	P	0.35124	0.485	B	0.34489	0.184	T	0.11916	-1.0568	10	0.02654	T	1	-17.4635	18.358	0.90364	0.0:0.0:1.0:0.0	.	261	P32780	TF2H1_HUMAN	E	261;145;261;57	ENSP00000393638:G261E;ENSP00000435375:G145E;ENSP00000265963:G261E;ENSP00000436575:G57E	ENSP00000265963:G261E	G	+	2	0	GTF2H1	18319675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.347000	0.79356	2.352000	0.79861	0.561000	0.74099	GGA		0.323	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		48	52	0	0	0	1	0	48	52				
CENPT	80152	broad.mit.edu	37	16	67861692	67861692	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67861692C>T	ENST00000562787.1	-	0	2345				CENPT_ENST00000562947.1_5'Flank|TSNAXIP1_ENST00000415766.3_Silent_p.G576G|TSNAXIP1_ENST00000388833.3_Silent_p.G591G|TSNAXIP1_ENST00000561639.1_Silent_p.G645G	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TGCGAGGGGGCCTGATGACCA	0.622																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(1771-1773)ggC>ggT		translin-associated factor X interacting protein 1							65.0	62.0	63.0					16																	67861692		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67861692C>T	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67861692C>T						TSNAXIP1_ENST00000561639.1_Silent_p.G645G|TSNAXIP1_ENST00000415766.3_Silent_p.G576G	p.G591G	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	16	2150	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	591					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1773C>T	CCDS42182.1																																																																																				0.622	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		11	25	0	0	0	1	0	11	25				
TANGO6	79613	broad.mit.edu	37	16	68894030	68894030	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:68894030C>T	ENST00000261778.1	+	2	350	c.338C>T	c.(337-339)gCa>gTa	p.A113V		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	113						integral component of membrane (GO:0016021)											ATCCGCCTTGCAGCTAATTTC	0.483																																						ENST00000261778.1																			0											c.(337-339)gCa>gTa		transport and golgi organization 6 homolog (Drosophila)							190.0	184.0	186.0					16																	68894030		1953	4157	6110	SO:0001583	missense	79613							g.chr16:68894030C>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.338C>T	16.37:g.68894030C>T	ENSP00000261778:p.Ala113Val						p.A113V	NM_024562.1	NP_078838.1					2	350	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.338C>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	1.022	-0.684604	0.03353	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.41	3.45	0.39498	.	.	.	.	.	T	0.26557	0.0649	L	0.31120	0.905	0.23923	N	0.996456	B	0.12013	0.005	B	0.12156	0.007	T	0.28332	-1.0047	8	0.08837	T	0.75	-1.6167	7.9285	0.29889	0.0:0.7411:0.0:0.2589	.	113	Q9C0B7	TMCO7_HUMAN	V	113	.	ENSP00000261778:A113V	A	+	2	0	TMCO7	67451531	0.660000	0.27420	0.770000	0.31555	0.432000	0.31715	1.096000	0.30976	0.652000	0.30806	-0.258000	0.10820	GCA		0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		64	128	0	0	0	1	0	64	128				
BCOR	54880	broad.mit.edu	37	X	39932442	39932442	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:39932442G>A	ENST00000378444.4	-	4	2385	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A	BCOR_ENST00000397354.3_Silent_p.A719A|BCOR_ENST00000378455.4_Silent_p.A719A|BCOR_ENST00000342274.4_Silent_p.A719A	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	719					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAACCCCAGGGCATCTTGGT	0.567			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2155-2157)gcC>gcT		BCL6 corepressor							51.0	50.0	51.0					X																	39932442		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932442G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2157C>T	X.37:g.39932442G>A						BCOR_ENST00000378444.4_Silent_p.A719A|BCOR_ENST00000397354.3_Silent_p.A719A|BCOR_ENST00000378455.4_Silent_p.A719A	p.A719A	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	2519	-			719					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.2157C>T	CCDS48093.1																																																																																				0.567	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	87	0	0	0	1	0	7	87				
EMD	2010	broad.mit.edu	37	X	153608701	153608701	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153608701C>T	ENST00000369842.4	+	4	661	c.373C>T	c.(373-375)Cca>Tca	p.P125S	EMD_ENST00000369835.3_Missense_Mutation_p.P90S|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	125	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	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)					GACTTCATTCCCAGATGCTGA	0.577																																						ENST00000369842.4																			0				lung(5)	5						c.(373-375)Cca>Tca		emerin							54.0	51.0	52.0					X																	153608701		2203	4299	6502	SO:0001583	missense	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153608701C>T	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.373C>T	X.37:g.153608701C>T	ENSP00000358857:p.Pro125Ser					EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Missense_Mutation_p.P90S	p.P125S	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN			4	661	+	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)		125			Interaction with F-actin (Probable).		Q6FI02	Missense_Mutation	SNP	ENST00000369842.4	37	c.373C>T	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.878859	0.00537	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	D;D	0.85258	-1.54;-1.96	4.24	-2.48	0.06423	.	1.591010	0.03742	N	0.255205	T	0.65386	0.2686	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53500	-0.8430	10	0.25751	T	0.34	-11.7191	4.7806	0.13201	0.0:0.3621:0.3715:0.2663	.	125	P50402	EMD_HUMAN	S	125;90	ENSP00000358857:P125S;ENSP00000358850:P90S	ENSP00000358850:P90S	P	+	1	0	EMD	153261895	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.174000	0.09839	-0.477000	0.06832	-0.435000	0.05868	CCA		0.577	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			20	47	0	0	0	1	0	20	47				
DNMT1	1786	broad.mit.edu	37	19	10251549	10251549	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10251549C>T	ENST00000340748.4	-	31	3618	c.3383G>A	c.(3382-3384)aGc>aAc	p.S1128N	DNMT1_ENST00000540357.1_Missense_Mutation_p.S1128N|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Missense_Mutation_p.S1144N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1128	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)			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)	CTCTGGCTCGCTCGGCTCACA	0.612																																						ENST00000340748.4																			0				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						c.(3382-3384)aGc>aAc		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						85.0	77.0	80.0					19																	10251549		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10251549C>T	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.3383G>A	19.37:g.10251549C>T	ENSP00000345739:p.Ser1128Asn					DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.S1128N|DNMT1_ENST00000359526.4_Missense_Mutation_p.S1144N	p.S1128N			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		31	3618	-			1128			Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3383G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576496	0.28092	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23754	1.9;1.89;1.89	5.48	2.23	0.28157	.	0.785860	0.12492	N	0.464128	T	0.21103	0.0508	L	0.51422	1.61	0.09310	N	1	B;B;B	0.20550	0.046;0.046;0.027	B;B;B	0.19391	0.025;0.025;0.011	T	0.25916	-1.0118	10	0.21014	T	0.42	-5.0461	7.5102	0.27569	0.0:0.7223:0.0:0.2777	.	1128;1144;1128	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	1144;1128;1128;996	ENSP00000352516:S1144N;ENSP00000440457:S1128N;ENSP00000345739:S1128N	ENSP00000345739:S1128N	S	-	2	0	DNMT1	10112549	0.000000	0.05858	0.014000	0.15608	0.074000	0.17049	0.045000	0.14013	0.666000	0.31087	0.655000	0.94253	AGC		0.612	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		35	43	0	0	0	1	0	35	43				
CBL	867	broad.mit.edu	37	11	119142579	119142579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:119142579C>T	ENST00000264033.4	+	3	954	c.578C>T	c.(577-579)gCt>gTt	p.A193V		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	193	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGGAGAAAAGCTTTTGGGGAA	0.333			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(577-579)gCt>gTt		Cbl proto-oncogene, E3 ubiquitin protein ligase							78.0	85.0	83.0					11																	119142579		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119142579C>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.578C>T	11.37:g.119142579C>T	ENSP00000264033:p.Ala193Val						p.A193V	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	3	954	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	193			Cbl-PTB.|EF-hand-like.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.578C>T	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694651	0.68386	.	.	ENSG00000110395	ENST00000264033	T	0.77877	-1.13	5.84	5.84	0.93424	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.047346	0.85682	D	0.000000	T	0.68128	0.2967	L	0.29908	0.895	0.80722	D	1	P	0.46220	0.874	B	0.39258	0.295	T	0.65467	-0.6161	10	0.15499	T	0.54	-17.0558	20.1432	0.98067	0.0:1.0:0.0:0.0	.	193	P22681	CBL_HUMAN	V	193	ENSP00000264033:A193V	ENSP00000264033:A193V	A	+	2	0	CBL	118647789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.769000	0.95229	0.561000	0.74099	GCT		0.333	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		4	87	0	0	0	1	0	4	87				
PPP1R21	129285	broad.mit.edu	37	2	48713874	48713874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:48713874G>A	ENST00000294952.8	+	14	1580	c.1423G>A	c.(1423-1425)Gca>Aca	p.A475T	PPP1R21_ENST00000281394.4_Missense_Mutation_p.A475T|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A475T	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	475						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						ATCAGTAGTGGCATTAACAAA	0.363																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1423-1425)Gca>Aca		protein phosphatase 1, regulatory subunit 21							94.0	93.0	94.0					2																	48713874		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48713874G>A	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1423G>A	2.37:g.48713874G>A	ENSP00000294952:p.Ala475Thr					PPP1R21_ENST00000281394.4_Missense_Mutation_p.A475T|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A475T	p.A475T	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			14	1580	+			475					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1423G>A	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702804	0.48307	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.47	4.58	0.56647	.	0.334193	0.36374	N	0.002627	T	0.41465	0.1160	L	0.43152	1.355	0.34903	D	0.746682	B;B;B;B	0.26845	0.001;0.001;0.002;0.161	B;B;B;B	0.24394	0.003;0.004;0.002;0.053	T	0.48352	-0.9043	9	0.17832	T	0.49	-2.3465	10.9761	0.47467	0.0694:0.0:0.8018:0.1288	.	475;475;475;475	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	T	475	.	ENSP00000281394:A475T	A	+	1	0	KLRAQ1	48567378	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.136000	0.50554	1.289000	0.44618	0.650000	0.86243	GCA		0.363	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		17	47	0	0	0	1	0	17	47				
CST9	128822	broad.mit.edu	37	20	23584248	23584248	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:23584248C>T	ENST00000376971.3	-	2	390	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	127						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					AAGCTGATGCCCTGTCTTACG	0.512																																						ENST00000376971.3																			0				central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(379-381)Ggc>Agc		cystatin 9 (testatin)							195.0	165.0	175.0					20																	23584248		2203	4300	6503	SO:0001583	missense	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23584248C>T	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.379G>A	20.37:g.23584248C>T	ENSP00000366170:p.Gly127Ser						p.G127S	NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN			2	390	-	Colorectal(13;0.0993)		127					B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	c.379G>A	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294778	0.23564	.	.	ENSG00000173335	ENST00000376971	D	0.89681	-2.55	2.04	-3.95	0.04118	.	.	.	.	.	T	0.69513	0.3119	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.55283	-0.8165	9	0.28530	T	0.3	.	0.45	0.00500	0.3262:0.2086:0.2892:0.1761	.	127	Q5W186	CST9_HUMAN	S	127	ENSP00000366170:G127S	ENSP00000366170:G127S	G	-	1	0	CST9	23532248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.390000	0.02528	-1.044000	0.03254	0.561000	0.74099	GGC		0.512	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		39	67	0	0	0	1	0	39	67				
GSTM2	2946	broad.mit.edu	37	1	110211977	110211977	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:110211977C>T	ENST00000241337.4	+	4	293	c.243C>T	c.(241-243)gcC>gcT	p.A81A	GSTM2_ENST00000460717.3_Silent_p.A81A|GSTM2_ENST00000369831.2_Silent_p.A81A|GSTM2_ENST00000369827.3_Silent_p.A79A|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000369829.2_Silent_p.A81A|GSTM2_ENST00000442650.1_Silent_p.A81A	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	81	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGTACATTGCCCGCAAGCACA	0.572																																						ENST00000369831.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(241-243)gcC>gcT		glutathione S-transferase mu 2 (muscle)							228.0	190.0	203.0					1																	110211977		2203	4300	6503	SO:0001819	synonymous_variant	2946							g.chr1:110211977C>T	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.243C>T	1.37:g.110211977C>T						GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000369827.3_Silent_p.A79A|GSTM2_ENST00000369829.2_Silent_p.A81A|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Silent_p.A81A|GSTM2_ENST00000460717.3_Silent_p.A81A|GSTM2_ENST00000241337.4_Silent_p.A81A	p.A81A						all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	4	337	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Silent	SNP	ENST00000241337.4	37	c.243C>T	CCDS808.1																																																																																				0.572	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		12	217	0	0	0	1	0	12	217				
MDC1	9656	broad.mit.edu	37	6	30673338	30673338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30673338C>T	ENST00000376406.3	-	10	4269	c.3622G>A	c.(3622-3624)Gag>Aag	p.E1208K	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E944K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1208	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGCTGGAGCTCAAGGGCTGTG	0.537								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(3622-3624)Gag>Aag	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							156.0	172.0	166.0					6																	30673338		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673338C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3622G>A	6.37:g.30673338C>T	ENSP00000365588:p.Glu1208Lys					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E944K	p.E1208K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	4269	-			1208	Missing (in Ref. 2; CAH18685).		Interaction with the PRKDC complex.|Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3622G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554877	0.27739	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104	T;T	0.10192	2.9;2.9	2.97	2.08	0.27032	.	.	.	.	.	T	0.02455	0.0075	L	0.55834	1.745	0.09310	N	1	B;P	0.37594	0.202;0.601	B;B	0.36534	0.058;0.227	T	0.37454	-0.9705	9	0.06365	T	0.9	.	5.8601	0.18743	0.0:0.843:0.0:0.157	.	944;1208	Q14676-2;Q14676	.;MDC1_HUMAN	K	1208;944;815	ENSP00000365588:E1208K;ENSP00000365587:E944K	ENSP00000365587:E944K	E	-	1	0	MDC1	30781317	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-0.075000	0.11431	0.576000	0.29452	0.423000	0.28283	GAG		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		20	224	0	0	0	1	0	20	224				
MAP3K10	4294	broad.mit.edu	37	19	40698128	40698128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40698128C>T	ENST00000253055.3	+	1	478	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	64	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGGGCAGCTCCCCAGCGGCCG	0.736																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(190-192)Ccc>Tcc		mitogen-activated protein kinase kinase kinase 10							16.0	19.0	18.0					19																	40698128		2192	4291	6483	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40698128C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.190C>T	19.37:g.40698128C>T	ENSP00000253055:p.Pro64Ser						p.P64S	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			1	478	+			64			SH3.		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.190C>T	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119958	0.20877	.	.	ENSG00000130758	ENST00000253055	T	0.73575	-0.76	4.14	3.08	0.35506	Src homology-3 domain (4);Variant SH3 (1);Protein kinase-like domain (1);	0.000000	0.36268	N	0.002683	T	0.49660	0.1570	N	0.10707	0.03	0.30134	N	0.804544	B	0.23442	0.085	B	0.24974	0.057	T	0.42666	-0.9438	10	0.09843	T	0.71	.	9.8318	0.40946	0.0:0.7921:0.2079:0.0	.	64	Q02779	M3K10_HUMAN	S	64	ENSP00000253055:P64S	ENSP00000253055:P64S	P	+	1	0	MAP3K10	45389968	0.042000	0.20092	0.983000	0.44433	0.991000	0.79684	0.570000	0.23653	0.936000	0.37367	0.655000	0.94253	CCC		0.736	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		6	8	0	0	0	1	0	6	8				
POLH	5429	broad.mit.edu	37	6	43550781	43550781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43550781G>A	ENST00000372236.4	+	3	470	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	POLH_ENST00000372226.1_Missense_Mutation_p.V59I|POLH_ENST00000535400.1_5'UTR	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGCATTTGGAGTCACTAGAAG	0.388								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													ENST00000372236.4																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(175-177)Gtc>Atc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), eta							118.0	99.0	106.0					6																	43550781		2203	4300	6503	SO:0001583	missense	5429	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43550781G>A	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.175G>A	6.37:g.43550781G>A	ENSP00000361310:p.Val59Ile					POLH_ENST00000535400.1_5'UTR|POLH_ENST00000372226.1_Missense_Mutation_p.V59I	p.V59I	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		3	470	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		59			UmuC.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	c.175G>A	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487774	0.96323	.	.	ENSG00000170734	ENST00000372236;ENST00000372226	T;T	0.79845	-1.31;-1.31	6.17	6.17	0.99709	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	L	0.41236	1.265	0.80722	D	1	D	0.59767	0.986	D	0.69142	0.962	T	0.80511	-0.1350	10	0.38643	T	0.18	-7.3892	20.4745	0.99168	0.0:0.0:1.0:0.0	.	59	Q9Y253	POLH_HUMAN	I	59	ENSP00000361310:V59I;ENSP00000361300:V59I	ENSP00000361300:V59I	V	+	1	0	POLH	43658759	1.000000	0.71417	0.873000	0.34254	0.990000	0.78478	8.568000	0.90741	2.941000	0.99782	0.655000	0.94253	GTC		0.388	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		6	66	0	0	0	1	0	6	66				
TDRD9	122402	broad.mit.edu	37	14	104471612	104471612	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:104471612G>A	ENST00000409874.4	+	15	1631	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	TDRD9_ENST00000339063.5_Splice_Site_p.R528H	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	528	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TCTTTTCAGCGTTGTCCATTA	0.463																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.e15-1		tudor domain containing 9							75.0	69.0	71.0					14																	104471612		2203	4300	6503	SO:0001630	splice_region_variant	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104471612G>A	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1582-1G>A	14.37:g.104471612G>A						TDRD9_ENST00000339063.5_Splice_Site_p.R528_splice	p.R528_splice	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			15	1631	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	528			Helicase C-terminal.		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Splice_Site	SNP	ENST00000409874.4	37	c.1581_splice	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678069	0.68042	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.03441	3.93;3.93	5.56	5.56	0.83823	Helicase, C-terminal (1);	0.183376	0.37012	N	0.002284	T	0.20981	0.0505	M	0.90425	3.115	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.76071	0.909;0.987	T	0.00325	-1.1816	10	0.87932	D	0	.	10.3292	0.43812	0.0715:0.0:0.7919:0.1365	.	528;528	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	H	528	ENSP00000387303:R528H;ENSP00000343545:R528H	ENSP00000343545:R528H	R	+	2	0	TDRD9	103541365	1.000000	0.71417	0.989000	0.46669	0.780000	0.44128	3.011000	0.49567	2.622000	0.88805	0.655000	0.94253	CGT		0.463	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	Missense_Mutation	10	8	0	0	0	1	0	10	8				
GSG1L	146395	broad.mit.edu	37	16	27895955	27895955	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:27895955G>A	ENST00000447459.2	-	3	486	c.402C>T	c.(400-402)gtC>gtT	p.V134V	GSG1L_ENST00000395724.3_Intron|GSG1L_ENST00000569166.1_5'Flank|GSG1L_ENST00000380897.3_5'UTR|GSG1L_ENST00000380898.2_5'UTR	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	134					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						ACAGCCACAGGACCCCTGTCC	0.572																																						ENST00000447459.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(400-402)gtC>gtT		GSG1-like							97.0	122.0	113.0					16																	27895955		1321	2309	3630	SO:0001819	synonymous_variant	146395					integral to membrane		g.chr16:27895955G>A	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.402C>T	16.37:g.27895955G>A						GSG1L_ENST00000395724.3_Intron|GSG1L_ENST00000380897.3_5'UTR|GSG1L_ENST00000380898.2_5'UTR	p.V134V	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN			3	486	-			134					Q7Z6F8|Q8TB81	Silent	SNP	ENST00000447459.2	37	c.402C>T	CCDS45450.1																																																																																				0.572	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		6	4	0	0	0	1	0	6	4				
HOGA1	112817	broad.mit.edu	37	10	99344566	99344566	+	Missense_Mutation	SNP	G	G	A	rs573292460		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:99344566G>A	ENST00000370646.4	+	1	467	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	HOGA1_ENST00000370647.4_Missense_Mutation_p.A36T|PI4K2A_ENST00000370649.3_Missense_Mutation_p.A36T|PI4K2A_ENST00000555577.1_Missense_Mutation_p.A36T	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	36					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GGTGGACATTGCGGGTATCTA	0.597																																						ENST00000370646.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(106-108)Gcg>Acg		4-hydroxy-2-oxoglutarate aldolase 1							98.0	101.0	100.0					10																	99344566		2203	4300	6503	SO:0001583	missense	112817							g.chr10:99344566G>A	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.106G>A	10.37:g.99344566G>A	ENSP00000359680:p.Ala36Thr					PI4K2A_ENST00000555577.1_Missense_Mutation_p.A36T|PI4K2A_ENST00000370649.3_Missense_Mutation_p.A36T|HOGA1_ENST00000370647.4_Missense_Mutation_p.A36T	p.A36T	NM_138413.3	NP_612422.2					1	467	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.106G>A	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	6.805	0.517601	0.13005	.	.	ENSG00000241935;ENSG00000241935;ENSG00000155252;ENSG00000249967	ENST00000370647;ENST00000370646;ENST00000555577;ENST00000370649	D;D;D;D	0.93659	-2.9;-3.26;-2.08;-2.08	4.96	-6.96	0.01622	Aldolase-type TIM barrel (1);	0.523932	0.21112	N	0.079979	T	0.75391	0.3843	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.15141	0.012;0.0;0.0	B;B;B	0.12156	0.007;0.002;0.002	T	0.71224	-0.4656	10	0.12430	T	0.62	-0.2449	4.9276	0.13901	0.1658:0.0786:0.1818:0.5738	.	36;36;36	E9PAM4;Q86XE5-3;Q86XE5	.;.;HOGA1_HUMAN	T	36	ENSP00000359681:A36T;ENSP00000359680:A36T;ENSP00000452243:A36T;ENSP00000359683:A36T	ENSP00000359680:A36T	A	+	1	0	PI4K2A;HOGA1;RP11-548K23.11	99334556	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-1.652000	0.01988	-1.895000	0.01104	-2.437000	0.00212	GCG		0.597	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		6	84	0	0	0	1	0	6	84				
CLDN15	24146	broad.mit.edu	37	7	100880722	100880722	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100880722G>A	ENST00000401528.1	-	2	1266	c.141C>T	c.(139-141)aaC>aaT	p.N47N	CLDN15_ENST00000308344.5_Silent_p.N47N|FIS1_ENST00000482199.1_5'Flank|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	47					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					TAAACCAGAGGTTCTCGAAGA	0.612																																						ENST00000401528.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(139-141)aaC>aaT		claudin 15							185.0	129.0	148.0					7																	100880722		2203	4300	6503	SO:0001819	synonymous_variant	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100880722G>A	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.141C>T	7.37:g.100880722G>A						CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Silent_p.N47N	p.N47N	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN			2	1266	-	Lung NSC(181;0.168)|all_lung(186;0.215)		47					B3KPB5	Silent	SNP	ENST00000401528.1	37	c.141C>T	CCDS5717.1																																																																																				0.612	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		8	31	0	0	0	1	0	8	31				
EHD4	30844	broad.mit.edu	37	15	42193002	42193002	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42193002C>T	ENST00000220325.4	-	6	1550	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	489	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		AGTCGGCCAGCTTCCAGATCT	0.582																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1465-1467)aaG>aaA		EH-domain containing 4							82.0	70.0	74.0					15																	42193002		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193002C>T	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1467G>A	15.37:g.42193002C>T							p.K489K	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1550	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	489			EF-hand.|EH.		Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1467G>A	CCDS10081.1																																																																																				0.582	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		11	19	0	0	0	1	0	11	19				
DSCAM	1826	broad.mit.edu	37	21	41516479	41516479	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:41516479G>A	ENST00000400454.1	-	17	3675	c.3198C>T	c.(3196-3198)gcC>gcT	p.A1066A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1066	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCGGTTACAGGCCTGCACCA	0.577																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3196-3198)gcC>gcT		Down syndrome cell adhesion molecule							66.0	74.0	71.0					21																	41516479		1939	4136	6075	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41516479G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3198C>T	21.37:g.41516479G>A							p.A1066A	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			17	3675	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1066			Fibronectin type-III 2.		O60468	Silent	SNP	ENST00000400454.1	37	c.3198C>T	CCDS42929.1																																																																																				0.577	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		15	77	0	0	0	1	0	15	77				
BTBD3	22903	broad.mit.edu	37	20	11903721	11903721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:11903721G>A	ENST00000405977.1	+	5	1601	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	BTBD3_ENST00000254977.3_Missense_Mutation_p.A265T|BTBD3_ENST00000378226.2_Missense_Mutation_p.A326T|BTBD3_ENST00000399006.2_Missense_Mutation_p.A265T	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	326					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ACCCACAATGGCCCTCGATGA	0.468																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(976-978)Gcc>Acc		BTB (POZ) domain containing 3							119.0	120.0	119.0					20																	11903721		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11903721G>A	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.976G>A	20.37:g.11903721G>A	ENSP00000384545:p.Ala326Thr					BTBD3_ENST00000399006.2_Missense_Mutation_p.A265T|BTBD3_ENST00000378226.2_Missense_Mutation_p.A326T|BTBD3_ENST00000254977.3_Missense_Mutation_p.A265T	p.A326T			Q9Y2F9	BTBD3_HUMAN			5	1601	+			326					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.976G>A	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	5.462	0.270387	0.10349	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.77229	-1.07;-1.07;-1.08;-1.08	6.16	6.16	0.99307	BTB/Kelch-associated (1);	0.044682	0.85682	D	0.000000	T	0.49813	0.1579	N	0.00750	-1.22	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.58940	-0.7547	10	0.02654	T	1	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	326	Q9Y2F9	BTBD3_HUMAN	T	265;265;326;326	ENSP00000254977:A265T;ENSP00000381971:A265T;ENSP00000384545:A326T;ENSP00000367471:A326T	ENSP00000254977:A265T	A	+	1	0	BTBD3	11851721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.508000	0.67006	2.937000	0.99478	0.650000	0.86243	GCC		0.468	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			14	107	0	0	0	1	0	14	107				
GPATCH2L	55668	broad.mit.edu	37	14	76639984	76639984	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:76639984G>A	ENST00000261530.7	+	5	1050				GPATCH2L_ENST00000556663.1_Missense_Mutation_p.V334I|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.V334I|GPATCH2L_ENST00000312858.5_Intron	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like																		ACCTCTCACAGTTAGCTTGGC	0.488																																						ENST00000556663.1																			0											c.(1000-1002)Gtt>Att		G patch domain containing 2-like							110.0	98.0	102.0					14																	76639984		2203	4300	6503	SO:0001627	intron_variant	55668							g.chr14:76639984G>A	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.984+16G>A	14.37:g.76639984G>A						GPATCH2L_ENST00000261530.7_Intron|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.V334I|GPATCH2L_ENST00000312858.5_Intron	p.V334I							4	1718	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.1000G>A	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	9.490	1.100362	0.20552	.	.	ENSG00000089916	ENST00000557263;ENST00000556663	T;T	0.45276	0.9;0.9	5.71	2.79	0.32731	.	.	.	.	.	T	0.24005	0.0581	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23547	-1.0185	7	.	.	.	.	5.4048	0.16316	0.1894:0.1631:0.6475:0.0	.	334	Q9NWQ4-1	.	I	334	ENSP00000451587:V334I;ENSP00000450657:V334I	.	V	+	1	0	C14orf118	75709737	0.089000	0.21612	0.001000	0.08648	0.027000	0.11550	1.049000	0.30392	0.297000	0.22615	0.655000	0.94253	GTT		0.488	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		7	76	0	0	0	1	0	7	76				
RAD54L2	23132	broad.mit.edu	37	3	51667773	51667773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51667773C>T	ENST00000409535.2	+	7	1131	c.1006C>T	c.(1006-1008)Ccg>Tcg	p.P336S	RAD54L2_ENST00000296477.3_Missense_Mutation_p.P30S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	336	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.P336S(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGCCATTGTGCCGGTAAGAGT	0.507																																						ENST00000409535.1																			1	Substitution - Missense(1)	p.P336S(1)	endometrium(1)	NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(1006-1008)Ccg>Tcg		RAD54-like 2 (S. cerevisiae)							69.0	71.0	70.0					3																	51667773		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51667773C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1006C>T	3.37:g.51667773C>T	ENSP00000386520:p.Pro336Ser					RAD54L2_ENST00000296477.3_Missense_Mutation_p.P30S	p.P336S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	7	1131	+			336			Helicase ATP-binding.		Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.1006C>T	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.018343|5.018343	0.93404|0.93404	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|D;D	.|0.97959	.|-4.63;-4.63	5.19|5.19	5.19|5.19	0.71726|0.71726	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99375|0.99375	0.9780|0.9780	H|H	0.99182|0.99182	4.46|4.46	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.98256|0.98256	1.0496|1.0496	5|10	.|0.87932	.|D	.|0	-11.4359|-11.4359	17.6911|17.6911	0.88269|0.88269	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|336	.|Q9Y4B4	.|ARIP4_HUMAN	V|S	164|336;30	.|ENSP00000386520:P336S;ENSP00000296477:P30S	.|ENSP00000296477:P30S	A|P	+|+	2|1	0|0	RAD54L2|RAD54L2	51642813|51642813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.814000|7.814000	0.86154|0.86154	2.396000|2.396000	0.81511|0.81511	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.507	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		4	81	0	0	0	1	0	4	81				
ERBB2IP	55914	broad.mit.edu	37	5	65370939	65370939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:65370939G>A	ENST00000284037.5	+	23	4233	c.3844G>A	c.(3844-3846)Gca>Aca	p.A1282T	ERBB2IP_ENST00000511297.1_Missense_Mutation_p.A1237T|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.A480T|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.A1241T|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.A1289T|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.A1230T|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.A1241T|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.A1241T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1282					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGCATCTGTGGCAAGGCATCC	0.478																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3844-3846)Gca>Aca		erbb2 interacting protein							110.0	112.0	112.0					5																	65370939		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65370939G>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3844G>A	5.37:g.65370939G>A	ENSP00000284037:p.Ala1282Thr					ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.A1241T|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.A1241T|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.A1230T|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.A1289T|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.A1241T|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.A480T|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.A1237T	p.A1282T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	23	4233	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1282					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.3844G>A	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544151	0.86022	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000512354	T;T;T;T;T;T;T;T	0.37584	1.33;1.3;1.34;1.28;1.48;1.19;1.3;1.35	5.92	5.92	0.95590	.	0.117452	0.56097	D	0.000027	T	0.51787	0.1695	L	0.42245	1.32	0.80722	D	1	P;D;P;P;B;D;D	0.69078	0.487;0.997;0.79;0.892;0.321;0.993;0.996	B;P;B;P;B;P;P	0.61658	0.176;0.86;0.38;0.464;0.212;0.782;0.892	T	0.31110	-0.9955	10	0.37606	T	0.19	.	20.3065	0.98633	0.0:0.0:1.0:0.0	.	480;1241;1289;1289;1237;1282;1241	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.	T	1282;1241;480;1230;1241;1241;1237;1289;119	ENSP00000284037:A1282T;ENSP00000370330:A1241T;ENSP00000397833:A480T;ENSP00000370326:A1230T;ENSP00000370323:A1241T;ENSP00000370325:A1241T;ENSP00000422766:A1237T;ENSP00000426632:A1289T	ENSP00000284037:A1282T	A	+	1	0	ERBB2IP	65406695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.035000	0.93752	2.809000	0.96659	0.650000	0.86243	GCA		0.478	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		6	82	0	0	0	1	0	6	82				
DMWD	1762	broad.mit.edu	37	19	46288939	46288939	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46288939C>T	ENST00000270223.6	-	3	1860	c.1815G>A	c.(1813-1815)cgG>cgA	p.R605R	AC011530.4_ENST00000593999.1_Missense_Mutation_p.G98D|DMWD_ENST00000377735.3_Silent_p.R605R|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	605										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGACTGTGAGCCGCTCCTGGG	0.687																																						ENST00000593999.1																			0											c.(292-294)gGc>gAc									19.0	22.0	21.0					19																	46288939		2199	4298	6497	SO:0001819	synonymous_variant	0							g.chr19:46288939C>T	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1815G>A	19.37:g.46288939C>T						DMWD_ENST00000377735.3_Silent_p.R605R|DMWD_ENST00000270223.6_Silent_p.R605R	p.G98D							1	292	-									Missense_Mutation	SNP	ENST00000270223.6	37	c.293G>A	CCDS33054.1																																																																																				0.687	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		11	13	0	0	0	1	0	11	13				
ATP1A4	480	broad.mit.edu	37	1	160151482	160151482	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:160151482G>A	ENST00000368081.4	+	19	3216	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.E51E	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	915					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGACCTATGAGCAACGAAAAG	0.527																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(2743-2745)gaG>gaA		ATPase, Na+/K+ transporting, alpha 4 polypeptide							140.0	136.0	137.0					1																	160151482		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160151482G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2745G>A	1.37:g.160151482G>A						ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.E51E	p.E915E	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		19	3216	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		915					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.2745G>A	CCDS1197.1																																																																																				0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		13	44	0	0	0	1	0	13	44				
ILF3	3609	broad.mit.edu	37	19	10793300	10793300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10793300C>T	ENST00000590261.1	+	12	1468	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	ILF3_ENST00000449870.1_Missense_Mutation_p.P490S|ILF3_ENST00000592763.1_Missense_Mutation_p.P490S|ILF3_ENST00000250241.8_Missense_Mutation_p.P490S|ILF3_ENST00000407004.3_Missense_Mutation_p.P490S|ILF3_ENST00000318511.3_Missense_Mutation_p.P490S|ILF3_ENST00000420083.1_Missense_Mutation_p.P490S|ILF3_ENST00000588657.1_Missense_Mutation_p.P490S|ILF3_ENST00000589998.1_Missense_Mutation_p.P490S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	490					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGAGGCGAAGCCAGCAGTGGT	0.652																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1468-1470)Cca>Tca		interleukin enhancer binding factor 3, 90kDa							53.0	47.0	49.0					19																	10793300		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10793300C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1468C>T	19.37:g.10793300C>T	ENSP00000468156:p.Pro490Ser					ILF3_ENST00000407004.3_Missense_Mutation_p.P490S|ILF3_ENST00000589998.1_Missense_Mutation_p.P490S|ILF3_ENST00000318511.3_Missense_Mutation_p.P490S|ILF3_ENST00000250241.8_Missense_Mutation_p.P490S|ILF3_ENST00000588657.1_Missense_Mutation_p.P490S|ILF3_ENST00000420083.1_Missense_Mutation_p.P490S|ILF3_ENST00000590261.1_Missense_Mutation_p.P490S|ILF3_ENST00000592763.1_Missense_Mutation_p.P490S	p.P490S	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		13	1785	+			490					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1468C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917240	0.33815	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15487	2.44;2.43;2.42;2.45;2.42	5.22	5.22	0.72569	.	0.573425	0.18504	N	0.139268	T	0.13329	0.0323	N	0.24115	0.695	0.41433	D	0.987875	B;B;P;B;B;P	0.38504	0.009;0.119;0.634;0.063;0.012;0.557	B;B;B;B;B;B	0.35510	0.006;0.041;0.204;0.022;0.013;0.167	T	0.09640	-1.0665	10	0.39692	T	0.17	.	16.055	0.80794	0.0:1.0:0.0:0.0	.	490;490;490;490;490;490	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	S	490	ENSP00000404121:P490S;ENSP00000315205:P490S;ENSP00000405436:P490S;ENSP00000384660:P490S;ENSP00000250241:P490S	ENSP00000250241:P490S	P	+	1	0	ILF3	10654300	1.000000	0.71417	0.900000	0.35374	0.034000	0.12701	3.630000	0.54273	2.594000	0.87642	0.650000	0.86243	CCA		0.652	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			11	21	0	0	0	1	0	11	21				
MMP25	64386	broad.mit.edu	37	16	3107085	3107085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:3107085C>T	ENST00000336577.4	+	5	950	c.713C>T	c.(712-714)gCc>gTc	p.A238V	RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	245					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	TTTGGCCACGCCCTGGGCCTG	0.647																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(712-714)gCc>gTc		matrix metallopeptidase 25							82.0	83.0	83.0					16																	3107085		2197	4300	6497	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3107085C>T	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.713C>T	16.37:g.3107085C>T	ENSP00000337816:p.Ala238Val					RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA	p.A238V	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			5	950	+			238					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.713C>T	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	c	18.90	3.721592	0.68959	.	.	ENSG00000008516	ENST00000336577	T	0.23147	1.92	4.48	3.53	0.40419	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.139822	0.32372	N	0.006193	T	0.32912	0.0845	M	0.68952	2.095	0.43485	D	0.995716	P	0.37441	0.595	B	0.43575	0.424	T	0.12915	-1.0529	10	0.87932	D	0	.	10.0534	0.42230	0.0:0.8996:0.0:0.1004	.	238	Q9NPA2	MMP25_HUMAN	V	238	ENSP00000337816:A238V	ENSP00000337816:A238V	A	+	2	0	MMP25	3047086	0.989000	0.36119	0.984000	0.44739	0.443000	0.32047	4.860000	0.62961	0.886000	0.36113	0.306000	0.20318	GCC		0.647	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		58	77	0	0	0	1	0	58	77				
NUDCD2	134492	broad.mit.edu	37	5	162886873	162886873	+	Missense_Mutation	SNP	G	G	A	rs200145002		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:162886873G>A	ENST00000302764.4	-	1	273	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	HMMR_ENST00000353866.3_5'Flank|NUDCD2_ENST00000517501.1_Missense_Mutation_p.L62F|HMMR_ENST00000432118.2_5'Flank|NUDCD2_ENST00000519395.1_5'Flank|HMMR_ENST00000393915.4_5'Flank|HMMR_ENST00000358715.3_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	62	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		GCTACCTTGAGGATCTCGCGG	0.657																																						ENST00000302764.4																			0				large_intestine(1)|prostate(1)	2						c.(184-186)Ctc>Ttc		NudC domain containing 2							28.0	37.0	34.0					5																	162886873		2199	4295	6494	SO:0001583	missense	134492					intracellular		g.chr5:162886873G>A	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.184C>T	5.37:g.162886873G>A	ENSP00000304854:p.Leu62Phe					NUDCD2_ENST00000517501.1_Missense_Mutation_p.L62F	p.L62F	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	1	273	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	62			CS.		B2R4V0	Missense_Mutation	SNP	ENST00000302764.4	37	c.184C>T	CCDS4361.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801580	0.31869	.	.	ENSG00000170584	ENST00000302764;ENST00000517501	T;T	0.15718	2.4;2.4	5.86	5.86	0.93980	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.225303	0.46442	D	0.000282	T	0.13243	0.0321	N	0.14661	0.345	0.44946	D	0.997967	B	0.06786	0.001	B	0.12156	0.007	T	0.15464	-1.0436	10	0.25106	T	0.35	-17.8448	20.1891	0.98225	0.0:0.0:1.0:0.0	.	62	Q8WVJ2	NUDC2_HUMAN	F	62	ENSP00000304854:L62F;ENSP00000430347:L62F	ENSP00000304854:L62F	L	-	1	0	NUDCD2	162819451	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.921000	0.48852	2.778000	0.95560	0.650000	0.86243	CTC		0.657	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		4	74	0	0	0	1	0	4	74				
DTNB	1838	broad.mit.edu	37	2	25606749	25606749	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:25606749C>T	ENST00000406818.3	-	19	2084	c.1835G>A	c.(1834-1836)gGt>gAt	p.G612D	DTNB_ENST00000407661.3_Intron|DTNB_ENST00000288642.8_Missense_Mutation_p.G582D|DTNB_ENST00000496972.2_Intron|DTNB_ENST00000405222.1_Missense_Mutation_p.G545D|DTNB_ENST00000404103.3_Missense_Mutation_p.G582D|DTNB_ENST00000545439.1_Missense_Mutation_p.G401D|DTNB_ENST00000407186.1_Missense_Mutation_p.G575D|DTNB_ENST00000407038.3_Missense_Mutation_p.G552D	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	612						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTCTGCACCTTCCTCTGC	0.527																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1834-1836)gGt>gAt		dystrobrevin, beta							216.0	222.0	220.0					2																	25606749		1990	4169	6159	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25606749C>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1835G>A	2.37:g.25606749C>T	ENSP00000384084:p.Gly612Asp					DTNB_ENST00000404103.3_Missense_Mutation_p.G582D|DTNB_ENST00000496972.2_Intron|DTNB_ENST00000407661.3_Intron|DTNB_ENST00000288642.8_Missense_Mutation_p.G582D|DTNB_ENST00000407038.3_Missense_Mutation_p.G552D|DTNB_ENST00000407186.1_Missense_Mutation_p.G575D|DTNB_ENST00000545439.1_Missense_Mutation_p.G401D|DTNB_ENST00000405222.1_Missense_Mutation_p.G545D	p.G612D	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			19	2084	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		612					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.1835G>A	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459019	0.43634	.	.	ENSG00000138101	ENST00000406818;ENST00000404103;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439	T;T;T;T;T;T;T	0.44083	2.27;2.06;2.1;2.16;2.24;2.06;0.93	5.12	4.23	0.50019	.	0.312229	0.34110	N	0.004254	T	0.46308	0.1386	L	0.29908	0.895	0.46564	D	0.999105	B;B;B;D;D;D;D	0.89917	0.141;0.297;0.025;0.999;0.999;1.0;1.0	B;B;B;D;D;D;D	0.83275	0.123;0.11;0.031;0.992;0.996;0.996;0.992	T	0.31052	-0.9957	10	0.08179	T	0.78	0.0016	11.9888	0.53163	0.0:0.9136:0.0:0.0863	.	401;605;575;545;552;582;612	B7Z202;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;O60941	.;.;.;.;.;.;DTNB_HUMAN	D	612;582;552;545;575;582;401	ENSP00000384084:G612D;ENSP00000385482:G582D;ENSP00000384767:G552D;ENSP00000384787:G545D;ENSP00000385784:G575D;ENSP00000288642:G582D;ENSP00000444961:G401D	ENSP00000288642:G582D	G	-	2	0	DTNB	25460253	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.743000	0.26231	1.272000	0.44329	0.655000	0.94253	GGT		0.527	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		6	140	0	0	0	1	0	6	140				
POLR1B	84172	broad.mit.edu	37	2	113305118	113305118	+	Missense_Mutation	SNP	C	C	T	rs376363023		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113305118C>T	ENST00000263331.5	+	3	1046	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	POLR1B_ENST00000417433.2_Missense_Mutation_p.L100F|POLR1B_ENST00000541869.1_Missense_Mutation_p.L194F|POLR1B_ENST00000409894.3_Missense_Mutation_p.L156F|POLR1B_ENST00000537335.1_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	156					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCCACAAGCCCTCATTGAGCA	0.483																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(466-468)Ctc>Ttc		polymerase (RNA) I polypeptide B, 128kDa		C	PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	123.0	107.0	113.0		298,466	5.8	1.0	2		113	0,8600		0,0,4300	no	missense,missense	POLR1B	NM_001137604.1,NM_019014.4	22,22	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	100/1080,156/1136	113305118	1,13005	2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113305118C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.466C>T	2.37:g.113305118C>T	ENSP00000263331:p.Leu156Phe					POLR1B_ENST00000541869.1_Missense_Mutation_p.L194F|POLR1B_ENST00000417433.2_Missense_Mutation_p.L100F|POLR1B_ENST00000409894.3_Missense_Mutation_p.L156F|POLR1B_ENST00000537335.1_Intron	p.L156F	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			3	1046	+			156					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.466C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445033	0.96187	2.27E-4	0.0	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.78	5.78	0.91487	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.85847	0.5792	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;1.0	D;D;D;D	0.97110	0.997;0.997;0.926;1.0	D	0.87386	0.2360	10	0.66056	D	0.02	-25.1907	19.1372	0.93433	0.0:1.0:0.0:0.0	.	194;156;100;156	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	F	156;194;156;100	ENSP00000263331:L156F;ENSP00000444136:L194F;ENSP00000387143:L156F;ENSP00000405358:L100F	ENSP00000263331:L156F	L	+	1	0	POLR1B	113021589	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.993000	0.70616	2.894000	0.99253	0.655000	0.94253	CTC		0.483	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		25	35	0	0	0	1	0	25	35				
ALS2CR11	151254	broad.mit.edu	37	2	202400743	202400743	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:202400743C>T	ENST00000286195.3	-	13	1551		c.e13+1		ALS2CR11_ENST00000439140.1_Splice_Site|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.V503I	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTCAAATTTACCTCTGATAGA	0.318																																						ENST00000450242.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(1507-1509)Gta>Ata		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							63.0	60.0	61.0					2																	202400743		2201	4295	6496	SO:0001630	splice_region_variant	151254							g.chr2:202400743C>T	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1506+1G>A	2.37:g.202400743C>T						ALS2CR11_ENST00000439140.1_Splice_Site|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000286195.3_Splice_Site	p.V503I	NM_001168217.1	NP_001161689.1	Q53TS8	AL2SA_HUMAN			13	1554	-			503					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.1507G>A	CCDS2349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.359|8.359	0.832742|0.832742	0.16820|0.16820	.|.	.|.	ENSG00000155754|ENSG00000155754	ENST00000286195;ENST00000439140|ENST00000450242	.|T	.|0.45276	.|0.9	4.69|4.69	3.8|3.8	0.43715|0.43715	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47154	.|0.1430	L|L	0.56769|0.56769	1.78|1.78	0.25946|0.25946	N|N	0.9828|0.9828	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42032	.|-0.9475	.|7	.|0.87932	.|D	.|0	.|.	8.0558|8.0558	0.30604|0.30604	0.0:0.8926:0.0:0.1074|0.0:0.8926:0.0:0.1074	.|.	.|.	.|.	.|.	.|I	-1|503	.|ENSP00000399016:V503I	.|ENSP00000399016:V503I	.|V	-|-	.|1	.|0	ALS2CR11|ALS2CR11	202108988|202108988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.055000|0.055000	0.15305|0.15305	1.865000|1.865000	0.39479|0.39479	2.591000|2.591000	0.87537|0.87537	0.591000|0.591000	0.81541|0.81541	.|GTA		0.318	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	Intron	3	39	0	0	0	1	0	3	39				
FN1	2335	broad.mit.edu	37	2	216236738	216236738	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216236738C>T	ENST00000359671.1	-	39	6600	c.6335G>A	c.(6334-6336)gGa>gAa	p.G2112E	FN1_ENST00000346544.3_Splice_Site_p.G1992E|FN1_ENST00000443816.1_Splice_Site_p.G1991E|FN1_ENST00000357867.4_Splice_Site_p.G1902E|FN1_ENST00000446046.1_Splice_Site_p.G2056E|FN1_ENST00000421182.1_Splice_Site_p.G1966E|FN1_ENST00000345488.5_Intron|FN1_ENST00000432072.2_Splice_Site_p.G1993E|FN1_ENST00000354785.4_Missense_Mutation_p.G2203E|FN1_ENST00000323926.6_Splice_Site_p.G2172E|FN1_ENST00000356005.4_Missense_Mutation_p.G2022E|FN1_ENST00000336916.4_Splice_Site_p.G2081E|FN1_ENST00000357009.2_Splice_Site_p.G1992E			P02751	FINC_HUMAN	fibronectin 1	2112	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGCTTCTTGTCCTGTAGAGGC	0.488																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6607-6609)gGa>gAa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						211.0	190.0	197.0					2																	216236738		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216236738C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6335G>A	2.37:g.216236738C>T	ENSP00000352696:p.Gly2112Glu					FN1_ENST00000356005.4_Missense_Mutation_p.G2022E|FN1_ENST00000359671.1_Missense_Mutation_p.G2112E|FN1_ENST00000432072.2_Splice_Site_p.G1993_splice|FN1_ENST00000323926.6_Splice_Site_p.G2172_splice|FN1_ENST00000357867.4_Splice_Site_p.G1902_splice|FN1_ENST00000345488.5_Intron|FN1_ENST00000443816.1_Splice_Site_p.G1991_splice|FN1_ENST00000336916.4_Splice_Site_p.G2081_splice|FN1_ENST00000421182.1_Splice_Site_p.G1966_splice|FN1_ENST00000446046.1_Splice_Site_p.G2056_splice|FN1_ENST00000357009.2_Splice_Site_p.G1992_splice|FN1_ENST00000346544.3_Splice_Site_p.G1992_splice	p.G2203E			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	40	6977	-		Renal(323;0.127)	2112					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6608G>A		.	.	.	.	.	.	.	.	.	.	C	15.21	2.767174	0.49574	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	3.69;3.69;3.69;0.92;2.38;2.04;2.41;2.27;3.69;3.69;0.88;1.43;0.81;1.94	6.01	5.13	0.70059	Fibronectin, type III (2);	0.583949	0.17174	N	0.184154	T	0.48077	0.1480	N	0.14661	0.345	0.21897	N	0.999481	D;D;B;P;B;D;D;B;D;D;D;P;P	0.89917	0.985;1.0;0.008;0.57;0.061;0.992;1.0;0.109;0.965;0.995;1.0;0.837;0.929	D;D;B;P;B;D;D;B;P;D;D;P;P	0.97110	0.979;0.999;0.032;0.543;0.089;0.939;0.995;0.149;0.89;0.942;1.0;0.624;0.799	T	0.36040	-0.9764	10	0.72032	D	0.01	.	6.4036	0.21652	0.1361:0.6632:0.1314:0.0694	.	1872;1992;1993;2172;1902;2022;2056;2081;2113;1966;1991;2203;2112	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	E	1966;2172;2081;1902;2203;2113;2112;1992;1992;2056;1991;1993;2022;829;206	ENSP00000394423:G1966E;ENSP00000323534:G2172E;ENSP00000338200:G2081E;ENSP00000350534:G1902E;ENSP00000346839:G2203E;ENSP00000352696:G2112E;ENSP00000265312:G1992E;ENSP00000349509:G1992E;ENSP00000410422:G2056E;ENSP00000415018:G1991E;ENSP00000399538:G1993E;ENSP00000348285:G2022E;ENSP00000416139:G829E;ENSP00000392565:G206E	ENSP00000265313:G2113E	G	-	2	0	FN1	215944983	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.758000	0.38410	1.550000	0.49438	0.650000	0.86243	GGA		0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	87	0	0	0	1	0	6	87				
GRAMD4	23151	broad.mit.edu	37	22	47057340	47057340	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:47057340G>A	ENST00000406902.1	+	5	679		c.e5+1		GRAMD4_ENST00000361034.3_Splice_Site			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4						apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AATGGAGCAGGTACACCCTgg	0.612																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.e5+1		GRAM domain containing 4							36.0	37.0	37.0					22																	47057340		2202	4300	6502	SO:0001630	splice_region_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47057340G>A		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.466+1G>A	22.37:g.47057340G>A						GRAMD4_ENST00000361034.3_Splice_Site				Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	5	679	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)						A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Splice_Site	SNP	ENST00000406902.1	37		CCDS33672.1	.	.	.	.	.	.	.	.	.	.	g	18.00	3.525166	0.64747	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5102	0.67780	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRAMD4	45436004	1.000000	0.71417	0.997000	0.53966	0.723000	0.41478	4.935000	0.63498	2.569000	0.86673	0.552000	0.68991	.		0.612	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124	Intron	21	32	0	0	0	1	0	21	32				
PTPRS	5802	broad.mit.edu	37	19	5273480	5273480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:5273480C>T	ENST00000587303.1	-	3	451	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.V118I|PTPRS_ENST00000372412.4_Missense_Mutation_p.V118I|PTPRS_ENST00000590509.1_Missense_Mutation_p.V118I|PTPRS_ENST00000588012.1_Missense_Mutation_p.V118I|PTPRS_ENST00000592099.1_Missense_Mutation_p.V118I|PTPRS_ENST00000348075.2_Missense_Mutation_p.V118I|PTPRS_ENST00000353284.2_Missense_Mutation_p.V118I|PTPRS_ENST00000357368.4_Missense_Mutation_p.V118I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	118	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TTGGCATGGACTGTGATCTCC	0.587																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(352-354)Gtc>Atc		protein tyrosine phosphatase, receptor type, S							126.0	104.0	111.0					19																	5273480		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5273480C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.352G>A	19.37:g.5273480C>T	ENSP00000467537:p.Val118Ile					PTPRS_ENST00000590509.1_Missense_Mutation_p.V118I|PTPRS_ENST00000592099.1_Missense_Mutation_p.V118I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.V118I|PTPRS_ENST00000587303.1_Missense_Mutation_p.V118I|PTPRS_ENST00000357368.4_Missense_Mutation_p.V118I|PTPRS_ENST00000353284.2_Missense_Mutation_p.V118I|PTPRS_ENST00000348075.2_Missense_Mutation_p.V118I|PTPRS_ENST00000262963.6_Missense_Mutation_p.V118I	p.V118I			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	4	585	-			118			Ig-like C2-type 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.352G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016731	0.19355	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	3.58	2.48	0.30137	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.269957	0.23157	N	0.051290	T	0.53594	0.1806	L	0.35487	1.065	0.09310	N	0.999991	B;B;B;B;B;B;B	0.24576	0.001;0.106;0.002;0.0;0.004;0.001;0.0	B;B;B;B;B;B;B	0.28011	0.005;0.085;0.003;0.001;0.004;0.002;0.001	T	0.42224	-0.9464	10	0.27082	T	0.32	.	11.5907	0.50943	0.0:0.9093:0.0:0.0907	.	118;118;118;118;118;118;144	F8W800;Q8NHS7;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;.;PTPRS_HUMAN;.	I	144;118;118;118;118;118;118;118;118;118	ENSP00000361489:V118I;ENSP00000349932:V118I;ENSP00000262963:V118I;ENSP00000269907:V118I;ENSP00000327313:V118I	ENSP00000262963:V118I	V	-	1	0	PTPRS	5224480	0.971000	0.33674	0.877000	0.34402	0.392000	0.30506	2.388000	0.44398	0.804000	0.34136	0.462000	0.41574	GTC		0.587	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			19	34	0	0	0	1	0	19	34				
NPAS2	4862	broad.mit.edu	37	2	101611921	101611921	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:101611921C>T	ENST00000335681.5	+	21	2637	c.2352C>T	c.(2350-2352)taC>taT	p.Y784Y	NPAS2_ENST00000542504.1_Silent_p.Y849Y|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	784					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTCCACCTACTCACAACAGC	0.572																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2350-2352)taC>taT		neuronal PAS domain protein 2							100.0	96.0	98.0					2																	101611921		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101611921C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2352C>T	2.37:g.101611921C>T						AC016738.4_ENST00000452364.1_RNA|NPAS2_ENST00000542504.1_Silent_p.Y849Y	p.Y784Y	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			21	2637	+			784					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.2352C>T	CCDS2048.1																																																																																				0.572	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			32	60	0	0	0	1	0	32	60				
MUC3A	4584	broad.mit.edu	37	7	100551754	100551754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100551754C>T	ENST00000319509.7	+	1	505	c.505C>T	c.(505-507)Cca>Tca	p.P169S				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1834	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACTCTTACTCCATCAACAGC	0.493																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(505-507)Cca>Tca		mucin 3A, cell surface associated							799.0	747.0	763.0					7																	100551754		876	1991	2867	SO:0001583	missense	4584							g.chr7:100551754C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.505C>T	7.37:g.100551754C>T	ENSP00000324834:p.Pro169Ser						p.P169S							1	505	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.505C>T		.	.	.	.	.	.	.	.	.	.	C	7.253	0.603572	0.14002	.	.	ENSG00000169894	ENST00000319509	T	0.06768	3.26	1.32	0.361	0.16107	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.30974	N	0.7227589999999999	P	0.47604	0.898	B	0.34824	0.19	T	0.41858	-0.9485	8	0.29301	T	0.29	-0.5286	5.6457	0.17588	0.0:0.7898:0.0:0.2102	.	1834	Q02505	MUC3A_HUMAN	S	169	ENSP00000324834:P169S	ENSP00000324834:P169S	P	+	1	0	MUC3A	100389690	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.074000	0.01375	0.105000	0.17753	0.297000	0.19635	CCA		0.493	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		10	485	0	0	0	1	0	10	485				
POC1B	282809	broad.mit.edu	37	12	89864179	89864179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:89864179G>A	ENST00000313546.3	-	7	897	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000378528.2_Intron|POC1B_ENST00000541909.1_Missense_Mutation_p.L127F|POC1B_ENST00000393179.4_Missense_Mutation_p.L127F|POC1B_ENST00000549035.1_Missense_Mutation_p.L215F	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	257					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						CCTTCTAAGAGGTCCAGAATC	0.343																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(379-381)Ctc>Ttc		POC1 centriolar protein B							117.0	108.0	111.0					12																	89864179		2203	4300	6503	SO:0001583	missense	282809							g.chr12:89864179G>A	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.769C>T	12.37:g.89864179G>A	ENSP00000323302:p.Leu257Phe					POC1B_ENST00000378528.2_Intron|POC1B_ENST00000541909.1_Missense_Mutation_p.L127F|POC1B_ENST00000549035.1_Missense_Mutation_p.L215F|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Missense_Mutation_p.L257F	p.L127F							5	992	-								G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.379C>T	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583027	0.86748	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909	D;D;D;D	0.83419	-1.72;-1.64;-1.72;-1.72	5.68	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89995	0.4110	10	0.59425	D	0.04	.	15.9849	0.80144	0.0:0.0:0.8643:0.1357	.	257	Q8TC44	POC1B_HUMAN	F	127;257;215;127	ENSP00000376877:L127F;ENSP00000323302:L257F;ENSP00000447916:L215F;ENSP00000440301:L127F	ENSP00000323302:L257F	L	-	1	0	POC1B	88388310	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	4.830000	0.62745	1.381000	0.46364	0.650000	0.86243	CTC		0.343	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		19	35	0	0	0	1	0	19	35				
PPP1R26	9858	broad.mit.edu	37	9	138377096	138377096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:138377096G>A	ENST00000356818.2	+	4	1289	c.740G>A	c.(739-741)gGg>gAg	p.G247E	PPP1R26_ENST00000605660.1_Missense_Mutation_p.G247E|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G247E|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G247E|PPP1R26_ENST00000401470.3_Missense_Mutation_p.G247E|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	247					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AAATGTGATGGGTCAGTGGAG	0.502																																						ENST00000356818.2																			0											c.(739-741)gGg>gAg		protein phosphatase 1, regulatory subunit 26							71.0	80.0	77.0					9																	138377096		2202	4298	6500	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138377096G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.740G>A	9.37:g.138377096G>A	ENSP00000349274:p.Gly247Glu					PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G247E|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G247E|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G247E|PPP1R26_ENST00000401470.3_Missense_Mutation_p.G247E	p.G247E	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1289	+			247					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.740G>A	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999334	0.35226	.	.	ENSG00000196422	ENST00000356818	T	0.09255	3.0	5.61	-4.65	0.03339	.	1.547170	0.03852	N	0.272404	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	P	0.43352	0.804	B	0.35073	0.195	T	0.35475	-0.9787	10	0.14252	T	0.57	-0.0107	4.8549	0.13554	0.0848:0.3547:0.3654:0.1952	.	247	Q5T8A7	PPR26_HUMAN	E	247	ENSP00000349274:G247E	ENSP00000349274:G247E	G	+	2	0	KIAA0649	137516917	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.618000	0.02049	-0.722000	0.04922	0.655000	0.94253	GGG		0.502	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		39	108	0	0	0	1	0	39	108				
PLEKHG3	26030	broad.mit.edu	37	14	65209820	65209820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:65209820C>T	ENST00000394691.1	+	17	3206	c.3059C>T	c.(3058-3060)tCt>tTt	p.S1020F	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.S964F|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S525F|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S553F			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1020							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		TTCAACCCGTCTGCTGTCAGC	0.652																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2890-2892)tCt>tTt		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							79.0	86.0	84.0					14																	65209820		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209820C>T	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.3059C>T	14.37:g.65209820C>T	ENSP00000378183:p.Ser1020Phe					PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S525F|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S553F|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S1020F	p.S964F	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3199	+			1020					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2891C>T		.	.	.	.	.	.	.	.	.	.	C	12.04	1.818383	0.32145	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.66099	0.27;-0.19;1.2;1.21	5.66	3.84	0.44239	.	0.590783	0.16484	N	0.212432	T	0.68714	0.3031	L	0.56769	1.78	0.09310	N	1	D;D;P;P	0.57571	0.98;0.98;0.836;0.94	P;P;B;P	0.58331	0.837;0.777;0.444;0.646	T	0.58758	-0.7580	10	0.62326	D	0.03	.	7.4491	0.27227	0.0:0.7067:0.1388:0.1544	.	553;525;1020;964	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	F	964;1020;553;525	ENSP00000247226:S964F;ENSP00000378183:S1020F;ENSP00000450945:S553F;ENSP00000450973:S525F	ENSP00000247226:S964F	S	+	2	0	PLEKHG3	64279573	0.000000	0.05858	0.028000	0.17463	0.012000	0.07955	1.015000	0.29963	0.741000	0.32674	0.655000	0.94253	TCT		0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		33	95	0	0	0	1	0	33	95				
ZBED9	114821	broad.mit.edu	37	6	28543350	28543350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:28543350C>T	ENST00000452236.2	-	3	1749	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCTATAAGATCTACTTGGCAT	0.348																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1132-1134)Gat>Aat		SCAN domain containing 3							103.0	106.0	105.0					6																	28543350		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543350C>T																												ENST00000452236.2:c.1132G>A	6.37:g.28543350C>T	ENSP00000395259:p.Asp378Asn						p.D378N	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1749	-			378			Integrase catalytic.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1132G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858375	0.71834	.	.	ENSG00000232040	ENST00000452236	T	0.80566	-1.39	3.45	3.45	0.39498	Integrase, catalytic core (2);Ribonuclease H-like (1);	0.330189	0.20445	N	0.092211	T	0.72293	0.3442	N	0.25647	0.755	0.27439	N	0.953763	D	0.67145	0.996	P	0.60473	0.875	T	0.66264	-0.5967	10	0.87932	D	0	.	10.6309	0.45536	0.0:1.0:0.0:0.0	.	378	Q6R2W3	SCND3_HUMAN	N	378	ENSP00000395259:D378N	ENSP00000395259:D378N	D	-	1	0	SCAND3	28651329	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	1.698000	0.37794	1.935000	0.56089	0.655000	0.94253	GAT		0.348	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			41	76	0	0	0	1	0	41	76				
DNAH2	146754	broad.mit.edu	37	17	7721376	7721376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7721376C>T	ENST00000572933.1	+	68	11809	c.10349C>T	c.(10348-10350)aCa>aTa	p.T3450I	DNAH2_ENST00000389173.2_Missense_Mutation_p.T3450I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3450	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGACCCCACACTGAACCCC	0.542																																						ENST00000572933.1																			0				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						c.(10348-10350)aCa>aTa		dynein, axonemal, heavy chain 2							122.0	107.0	112.0					17																	7721376		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7721376C>T	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.10349C>T	17.37:g.7721376C>T	ENSP00000458355:p.Thr3450Ile					DNAH2_ENST00000389173.2_Missense_Mutation_p.T3450I	p.T3450I			Q9P225	DYH2_HUMAN			68	11809	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3450			AAA 5 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10349C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947030	0.34377	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.19669	2.13	4.87	4.87	0.63330	.	0.301603	0.32106	N	0.006563	T	0.06917	0.0176	N	0.00599	-1.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.003;0.004	T	0.34675	-0.9819	10	0.15499	T	0.54	.	16.9647	0.86282	0.0:1.0:0.0:0.0	.	3411;3450	Q9P225-2;Q9P225	.;DYH2_HUMAN	I	3411;3450	ENSP00000373825:T3450I	ENSP00000353818:T3411I	T	+	2	0	DNAH2	7662101	0.350000	0.24878	0.908000	0.35775	0.994000	0.84299	5.168000	0.64978	2.526000	0.85167	0.563000	0.77884	ACA		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	82	0	0	0	1	0	5	82				
SMARCC2	6601	broad.mit.edu	37	12	56578702	56578702	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56578702G>A	ENST00000267064.4	-	5	504	c.418C>T	c.(418-420)Cct>Tct	p.P140S	SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P140S|SMARCC2_ENST00000394023.3_Missense_Mutation_p.P140S|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P140S|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	140					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAAATGTTAGGTCGAGACAGG	0.403																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(418-420)Cct>Tct		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							145.0	133.0	137.0					12																	56578702		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56578702G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.418C>T	12.37:g.56578702G>A	ENSP00000267064:p.Pro140Ser					SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P140S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P140S|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P140S	p.P140S	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		5	523	-			140					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.418C>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951397	0.92660	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.85	5.85	0.93711	BRCT (1);	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.79475	2.455	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	0.87578	0.994;0.998;0.994;0.994;0.998	T	0.75947	-0.3138	10	0.72032	D	0.01	-8.8179	19.3175	0.94220	0.0:0.0:1.0:0.0	.	29;140;145;140;140	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	S	140	ENSP00000377591:P140S;ENSP00000449396:P140S;ENSP00000302919:P140S;ENSP00000267064:P140S	ENSP00000267064:P140S	P	-	1	0	SMARCC2	54864969	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.396000	0.97270	2.941000	0.99782	0.655000	0.94253	CCT		0.403	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			24	67	0	0	0	1	0	24	67				
ERCC6L	54821	broad.mit.edu	37	X	71425324	71425324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:71425324G>A	ENST00000334463.3	-	2	3428	c.3293C>T	c.(3292-3294)tCt>tTt	p.S1098F	ERCC6L_ENST00000373657.1_Missense_Mutation_p.S975F|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1098					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTAATAAGAGACCTCCTAGA	0.423																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2923-2925)tCt>tTt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							75.0	76.0	76.0					X																	71425324		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425324G>A	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3293C>T	X.37:g.71425324G>A	ENSP00000334675:p.Ser1098Phe					PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1098F	p.S975F			Q2NKX8	ERC6L_HUMAN			3	3526	-	Renal(35;0.156)		1098					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2924C>T	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.605921	0.66445	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.94723	-3.46;-3.5	5.05	5.05	0.67936	.	.	.	.	.	D	0.96231	0.8771	M	0.64997	1.995	0.48452	D	0.999656	D	0.76494	0.999	D	0.66716	0.946	D	0.96629	0.9465	9	0.87932	D	0	-14.4731	14.6453	0.68756	0.0:0.0:1.0:0.0	.	1098	Q2NKX8	ERC6L_HUMAN	F	975;1098	ENSP00000362761:S975F;ENSP00000334675:S1098F	ENSP00000334675:S1098F	S	-	2	0	ERCC6L	71342049	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.495000	0.66912	2.334000	0.79466	0.594000	0.82650	TCT		0.423	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		4	100	0	0	0	1	0	4	100				
SUPT5H	6829	broad.mit.edu	37	19	39950230	39950230	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39950230G>A	ENST00000599117.1	+	10	922		c.e10+1		SUPT5H_ENST00000402194.2_Splice_Site|SUPT5H_ENST00000598725.1_Splice_Site|SUPT5H_ENST00000359191.6_Splice_Site|SUPT5H_ENST00000432763.2_Splice_Site			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)						7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAATGTAAGGTATGTGCTCT	0.547																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.e10+1		suppressor of Ty 5 homolog (S. cerevisiae)							218.0	192.0	201.0					19																	39950230		2203	4300	6503	SO:0001630	splice_region_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39950230G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.555+1G>A	19.37:g.39950230G>A						SUPT5H_ENST00000402194.2_Splice_Site|SUPT5H_ENST00000598725.1_Splice_Site|SUPT5H_ENST00000359191.6_Splice_Site|SUPT5H_ENST00000432763.2_Splice_Site				O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		10	922	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)							O43279|Q59G52|Q99639	Splice_Site	SNP	ENST00000599117.1	37		CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342024	0.61073	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6321	0.45543	0.0935:0.0:0.9065:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUPT5H	44642070	1.000000	0.71417	0.996000	0.52242	0.729000	0.41735	7.277000	0.78572	2.490000	0.84030	0.655000	0.94253	.		0.547	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	Intron	49	94	0	0	0	1	0	49	94				
FAM46C	54855	broad.mit.edu	37	1	118165758	118165758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:118165758G>A	ENST00000369448.3	+	2	515	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	90										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGGCTGCAAAGACCTGGACCT	0.547			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												ENST00000369448.3				Rec	yes		1	1p12	54855	"""Mis, F, O"""	"""family with sequence similarity 46, member C"""			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(268-270)Gac>Aac		family with sequence similarity 46, member C							100.0	102.0	101.0					1																	118165758		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118165758G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.268G>A	1.37:g.118165758G>A	ENSP00000358458:p.Asp90Asn	Multiple Myeloma(3;1.13e-06)					p.D90N	NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	515	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	90					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.268G>A	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557083	0.86231	.	.	ENSG00000183508	ENST00000369448	T	0.30448	1.53	5.75	5.75	0.90469	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000001	T	0.58652	0.2137	M	0.88377	2.95	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.65903	-0.6055	10	0.87932	D	0	-10.861	18.9258	0.92544	0.0:0.0:1.0:0.0	.	90	Q5VWP2	FA46C_HUMAN	N	90	ENSP00000358458:D90N	ENSP00000358458:D90N	D	+	1	0	FAM46C	117967281	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	GAC		0.547	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		8	110	0	0	0	1	0	8	110				
DCP2	167227	broad.mit.edu	37	5	112327861	112327861	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:112327861G>A	ENST00000389063.2	+	3	447	c.249G>A	c.(247-249)gtG>gtA	p.V83V	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Silent_p.V83V	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	83					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)			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)		GTGAAGATGTGGAAAAAGTTT	0.338																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(247-249)gtG>gtA		decapping mRNA 2							185.0	176.0	179.0					5																	112327861		2202	4300	6502	SO:0001819	synonymous_variant	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112327861G>A	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.249G>A	5.37:g.112327861G>A						DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Silent_p.V83V	p.V83V	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		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)	3	447	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	83					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Silent	SNP	ENST00000389063.2	37	c.249G>A	CCDS34210.1																																																																																				0.338	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		6	89	0	0	0	1	0	6	89				
CCNE1	898	broad.mit.edu	37	19	30311687	30311687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:30311687G>A	ENST00000262643.3	+	7	820	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	CCNE1_ENST00000444983.2_Missense_Mutation_p.E166K|CCNE1_ENST00000357943.5_Intron	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	181					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GGCGACACAAGAAAATGTTGT	0.318			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(541-543)Gaa>Aaa		cyclin E1							69.0	71.0	70.0					19																	30311687		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30311687G>A	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.541G>A	19.37:g.30311687G>A	ENSP00000262643:p.Glu181Lys					CCNE1_ENST00000357943.5_Intron|CCNE1_ENST00000444983.2_Missense_Mutation_p.E166K	p.E181K	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		7	820	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		181					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.541G>A	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	G	3.018	-0.202428	0.06219	.	.	ENSG00000105173	ENST00000262643;ENST00000444983	T;T	0.21361	2.01;2.01	5.97	1.23	0.21249	Cyclin, N-terminal (1);Cyclin-like (3);	0.553641	0.22458	N	0.059784	T	0.06325	0.0163	N	0.01576	-0.805	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.41305	-0.9516	10	0.02654	T	1	.	12.5488	0.56216	0.0929:0.4927:0.4144:0.0	.	181	P24864	CCNE1_HUMAN	K	181;166	ENSP00000262643:E181K;ENSP00000410179:E166K	ENSP00000262643:E181K	E	+	1	0	CCNE1	35003527	1.000000	0.71417	0.733000	0.30861	0.596000	0.36781	2.094000	0.41719	0.098000	0.17522	0.591000	0.81541	GAA		0.318	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		31	54	0	0	0	1	0	31	54				
SIDT2	51092	broad.mit.edu	37	11	117058385	117058385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:117058385G>A	ENST00000324225.4	+	12	1660	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S	SIDT2_ENST00000431081.2_Missense_Mutation_p.G381S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	377					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)			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)		TGACAGCGCTGGCACTGGGGA	0.602																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1129-1131)Ggc>Agc		SID1 transmembrane family, member 2							119.0	101.0	107.0					11																	117058385		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117058385G>A	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.1129G>A	11.37:g.117058385G>A	ENSP00000314023:p.Gly377Ser					SIDT2_ENST00000431081.2_Missense_Mutation_p.G381S	p.G377S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	12	1660	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	377					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.1129G>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401263	0.25291	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.17370	2.29;2.28;2.34	4.54	4.54	0.55810	.	0.278325	0.35615	N	0.003083	T	0.09113	0.0225	N	0.13299	0.325	0.19575	N	0.999967	B;B;B;B	0.21071	0.016;0.01;0.051;0.01	B;B;B;B	0.15052	0.01;0.007;0.012;0.004	T	0.27226	-1.0080	10	0.09084	T	0.74	-19.5855	12.412	0.55471	0.0:0.1688:0.8312:0.0	.	377;381;377;377	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	S	377;377;381	ENSP00000314023:G377S;ENSP00000278951:G377S;ENSP00000399635:G381S	ENSP00000278951:G377S	G	+	1	0	SIDT2	116563595	0.940000	0.31905	0.084000	0.20598	0.214000	0.24535	2.619000	0.46401	2.357000	0.79964	0.462000	0.41574	GGC		0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		26	57	0	0	0	1	0	26	57				
DNAJC14	85406	broad.mit.edu	37	12	56221367	56221367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56221367C>T	ENST00000357606.3	-	3	1365	c.1076G>A	c.(1075-1077)aGg>aAg	p.R359K	DNAJC14_ENST00000317269.3_Missense_Mutation_p.R359K|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R359K			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	359					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGCCTTATCCCTCCAGCCTAA	0.572																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(1075-1077)aGg>aAg		DnaJ (Hsp40) homolog, subfamily C, member 14							68.0	68.0	68.0					12																	56221367		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221367C>T	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1076G>A	12.37:g.56221367C>T	ENSP00000350223:p.Arg359Lys					DNAJC14_ENST00000317269.3_Missense_Mutation_p.R359K|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R359K	p.R359K			Q6Y2X3	DJC14_HUMAN			3	1365	-			359					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1076G>A	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318173	0.40996	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.29655	1.56;1.56;1.56	5.34	4.43	0.53597	.	0.371449	0.29715	N	0.011387	T	0.18087	0.0434	N	0.24115	0.695	0.24263	N	0.995271	B;B	0.09022	0.002;0.002	B;B	0.09377	0.002;0.004	T	0.16748	-1.0392	9	.	.	.	-13.6624	7.6188	0.28173	0.0:0.7445:0.1682:0.0873	.	359;359	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	K	359;359;69;359	ENSP00000350223:R359K;ENSP00000316240:R359K;ENSP00000317500:R359K	.	R	-	2	0	DNAJC14	54507634	0.956000	0.32656	0.966000	0.40874	0.508000	0.34012	2.383000	0.44354	1.351000	0.45789	0.561000	0.74099	AGG		0.572	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		30	56	0	0	0	1	0	30	56				
CYGB	114757	broad.mit.edu	37	17	74527581	74527581	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74527581G>A	ENST00000293230.5	-	2	698	c.336C>T	c.(334-336)gcC>gcT	p.A112A	CYGB_ENST00000589342.1_Silent_p.A112A|CYGB_ENST00000589145.1_Silent_p.A47A|CYGB_ENST00000586160.1_5'Flank|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000590175.1_Silent_p.A47A	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	112	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						TGAGGGCGTGGGCTTTCCCCA	0.637																																						ENST00000293230.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						c.(334-336)gcC>gcT		cytoglobin							107.0	92.0	97.0					17																	74527581		2203	4300	6503	SO:0001819	synonymous_variant	114757				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity	g.chr17:74527581G>A	AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"""stellate cell activation-associated protein"", ""histoglobin"""	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.336C>T	17.37:g.74527581G>A						CYGB_ENST00000590175.1_Silent_p.A47A|CYGB_ENST00000589145.1_Silent_p.A47A|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589342.1_Silent_p.A112A	p.A112A	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN			2	698	-			112			Globin.		Q541Y7|Q8N2X5	Silent	SNP	ENST00000293230.5	37	c.336C>T	CCDS11746.1																																																																																				0.637	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450590.1	NM_134268		14	48	0	0	0	1	0	14	48				
EPB41L4B	54566	broad.mit.edu	37	9	112018731	112018731	+	Missense_Mutation	SNP	G	G	A	rs144325998	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:112018731G>A	ENST00000374566.3	-	8	1299	c.782C>T	c.(781-783)tCc>tTc	p.S261F	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.S261F	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	261	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTCAGATAGGAGAGTTCCGC	0.473																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(781-783)tCc>tTc		erythrocyte membrane protein band 4.1 like 4B							124.0	119.0	121.0					9																	112018731		1902	4125	6027	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112018731G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.782C>T	9.37:g.112018731G>A	ENSP00000363694:p.Ser261Phe					EPB41L4B_ENST00000374557.4_Missense_Mutation_p.S261F	p.S261F	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			8	1299	-			261			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.782C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611733	0.66558	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	T;T	0.78595	-1.19;-1.19	5.84	5.84	0.93424	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.39544	N	0.001332	D	0.83445	0.5256	L	0.53249	1.67	0.43029	D	0.994596	P;D	0.60575	0.928;0.988	P;P	0.60236	0.521;0.871	D	0.84639	0.0694	10	0.72032	D	0.01	.	14.5355	0.67958	0.0:0.2588:0.7412:0.0	.	261;261	Q9H329-2;Q9H329	.;E41LB_HUMAN	F	261;261;183	ENSP00000363694:S261F;ENSP00000363685:S261F	ENSP00000311274:S183F	S	-	2	0	EPB41L4B	111058552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.532000	0.45659	2.779000	0.95612	0.655000	0.94253	TCC		0.473	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		6	108	0	0	0	1	0	6	108				
TTN	7273	broad.mit.edu	37	2	179590704	179590704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179590704C>T	ENST00000591111.1	-	68	19618	c.19394G>A	c.(19393-19395)tGt>tAt	p.C6465Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.C6782Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C5538Y|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12067	Ig-like 46.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAAAGTTCACATTCAAGACT	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20344-20346)tGt>tAt		titin							86.0	82.0	83.0					2																	179590704		1881	4115	5996	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590704C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19394G>A	2.37:g.179590704C>T	ENSP00000465570:p.Cys6465Tyr					TTN_ENST00000591111.1_Missense_Mutation_p.C6465Y|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C5538Y|TTN-AS1_ENST00000585451.1_RNA	p.C6782Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		70	20569	-			6465			Ig-like 49.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.20345G>A		.	.	.	.	.	.	.	.	.	.	C	15.57	2.873901	0.51695	.	.	ENSG00000155657	ENST00000342992	D	0.85411	-1.98	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95708	0.8604	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96372	0.9274	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	6465	Q8WZ42	TITIN_HUMAN	Y	5538	ENSP00000343764:C5538Y	ENSP00000343764:C5538Y	C	-	2	0	TTN	179298949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.758000	0.85224	2.941000	0.99782	0.655000	0.94253	TGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	44	0	0	0	1	0	4	44				
NOD2	64127	broad.mit.edu	37	16	50744889	50744889	+	Missense_Mutation	SNP	C	C	T	rs201107567		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:50744889C>T	ENST00000300589.2	+	4	1172	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	356	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGCTGTTGGCCTGATGTTGGT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		22212	0.001		0.0	False		,,,				2504	0.0					ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1066-1068)cCt>cTt		nucleotide-binding oligomerization domain containing 2							93.0	72.0	79.0					16																	50744889		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50744889C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1067C>T	16.37:g.50744889C>T	ENSP00000300589:p.Pro356Leu						p.P356L	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1172	+		all_cancers(37;0.0156)	356			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1067C>T	CCDS10746.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.66	2.601274	0.46423	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.63580	-0.05	5.75	5.75	0.90469	NACHT nucleoside triphosphatase (1);	0.000000	0.64402	D	0.000004	T	0.81889	0.4918	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.84228	0.0465	10	0.87932	D	0	.	17.4358	0.87552	0.0:1.0:0.0:0.0	.	140;329;356	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	L	329;356	ENSP00000300589:P356L	ENSP00000300589:P356L	P	+	2	0	NOD2	49302390	1.000000	0.71417	0.965000	0.40720	0.013000	0.08279	5.698000	0.68302	2.720000	0.93068	0.555000	0.69702	CCT		0.507	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		5	80	0	0	0	1	0	5	80				
RSPH3	83861	broad.mit.edu	37	6	159420904	159420904	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:159420904G>A	ENST00000252655.1	-	1	294	c.105C>T	c.(103-105)gtC>gtT	p.V35V	RSPH3_ENST00000297262.3_Silent_p.V35V|RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000449822.1_5'Flank|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000606470.1_RNA	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	35										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CGGCACAAGGGACTTCCGGCT	0.692																																						ENST00000252655.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(103-105)gtC>gtT		radial spoke 3 homolog (Chlamydomonas)							20.0	24.0	23.0					6																	159420904		2200	4294	6494	SO:0001819	synonymous_variant	83861							g.chr6:159420904G>A	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.105C>T	6.37:g.159420904G>A						RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000297262.3_Silent_p.V35V|RSPH3_ENST00000367069.2_5'UTR	p.V35V	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	294	-		Breast(66;0.00519)|Ovarian(120;0.123)	35					Q96LQ5|Q96LX2|Q9BX75	Silent	SNP	ENST00000252655.1	37	c.105C>T	CCDS5260.1																																																																																				0.692	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		11	32	0	0	0	1	0	11	32				
FBL	2091	broad.mit.edu	37	19	40329772	40329772	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40329772C>T	ENST00000221801.3	-	5	565	c.452G>A	c.(451-453)gGt>gAt	p.G151D	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	151					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CTGGTCCACACCACCCAGGAT	0.572																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(451-453)gGt>gAt		fibrillarin							148.0	132.0	138.0					19																	40329772		2203	4300	6503	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40329772C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.452G>A	19.37:g.40329772C>T	ENSP00000221801:p.Gly151Asp						p.G151D	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	5	565	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	151					B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.452G>A	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677099	0.88445	.	.	ENSG00000105202	ENST00000221801	.	.	.	5.05	5.05	0.67936	.	0.049603	0.85682	D	0.000000	D	0.85915	0.5808	M	0.93550	3.43	0.80722	D	1	D;D;D	0.60160	0.987;0.964;0.987	D;P;D	0.72625	0.969;0.906;0.978	D	0.89477	0.3747	9	0.66056	D	0.02	-8.8261	15.9263	0.79618	0.0:1.0:0.0:0.0	.	151;90;151	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	D	151	.	ENSP00000221801:G151D	G	-	2	0	FBL	45021612	1.000000	0.71417	0.503000	0.27626	0.874000	0.50279	7.197000	0.77814	2.362000	0.80069	0.561000	0.74099	GGT		0.572	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		20	55	0	0	0	1	0	20	55				
NYAP1	222950	broad.mit.edu	37	7	100084740	100084740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100084740C>T	ENST00000300179.2	+	3	524	c.365C>T	c.(364-366)cCc>cTc	p.P122L	NYAP1_ENST00000423930.1_Missense_Mutation_p.P122L|NYAP1_ENST00000454988.1_Missense_Mutation_p.P65L	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	122	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CGGAGACACCCCAGCACCAAG	0.682																																						ENST00000423930.1																			0											c.(364-366)cCc>cTc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							18.0	24.0	22.0					7																	100084740		2188	4259	6447	SO:0001583	missense	222950							g.chr7:100084740C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.365C>T	7.37:g.100084740C>T	ENSP00000300179:p.Pro122Leu					NYAP1_ENST00000454988.1_Missense_Mutation_p.P65L|NYAP1_ENST00000300179.2_Missense_Mutation_p.P122L	p.P122L			Q6ZVC0	CG051_HUMAN			3	524	+			122					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.365C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689288	0.88735	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.62639	0.01;0.01;0.01	5.55	4.67	0.58626	.	0.130118	0.35555	N	0.003129	T	0.73079	0.3541	M	0.69523	2.12	0.80722	D	1	D	0.67145	0.996	P	0.60286	0.872	T	0.76038	-0.3105	10	0.87932	D	0	-18.673	11.4326	0.50050	0.0:0.913:0.0:0.087	.	122	Q6ZVC0	CG051_HUMAN	L	122;122;65	ENSP00000300179:P122L;ENSP00000411861:P122L;ENSP00000394424:P65L	ENSP00000300179:P122L	P	+	2	0	C7orf51	99922676	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.121000	0.64691	2.606000	0.88127	0.462000	0.41574	CCC		0.682	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		3	37	0	0	0	1	0	3	37				
CSF2	1437	broad.mit.edu	37	5	131411442	131411442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:131411442C>T	ENST00000296871.2	+	4	366	c.332C>T	c.(331-333)aCt>aTt	p.T111I		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	111					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTAAAGGAAACTTCCTGTGCA	0.448																																						ENST00000296871.2																			0				skin(1)	1						c.(331-333)aCt>aTt		colony stimulating factor 2 (granulocyte-macrophage)	Sargramostim(DB00020)						96.0	115.0	108.0					5																	131411442		2203	4300	6503	SO:0001583	missense	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131411442C>T	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"""sargramostim"", ""molgramostin"", ""granulocyte-macrophage colony stimulating factor"""	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.332C>T	5.37:g.131411442C>T	ENSP00000296871:p.Thr111Ile						p.T111I	NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	366	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	111					Q14CE8|Q2VPI8|Q8NFI6	Missense_Mutation	SNP	ENST00000296871.2	37	c.332C>T	CCDS4150.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450618	0.63290	.	.	ENSG00000164400	ENST00000296871	T	0.37584	1.19	4.69	3.82	0.43975	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.429901	0.19975	N	0.101884	T	0.48466	0.1501	L	0.56769	1.78	0.32926	D	0.516532	D	0.63880	0.993	P	0.61874	0.895	T	0.58858	-0.7562	10	0.62326	D	0.03	-2.7374	8.0662	0.30661	0.0:0.8923:0.0:0.1077	.	111	P04141	CSF2_HUMAN	I	111	ENSP00000296871:T111I	ENSP00000296871:T111I	T	+	2	0	CSF2	131439341	0.998000	0.40836	0.990000	0.47175	0.994000	0.84299	0.658000	0.24979	2.585000	0.87301	0.591000	0.81541	ACT		0.448	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758		6	124	0	0	0	1	0	6	124				
ZFHX3	463	broad.mit.edu	37	16	72991637	72991637	+	Missense_Mutation	SNP	G	G	A	rs146778775	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:72991637G>A	ENST00000268489.5	-	2	3080	c.2408C>T	c.(2407-2409)aCc>aTc	p.T803I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	803					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)			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)				GCACCGCCAGGTGGGTTTGGT	0.622																																						ENST00000268489.5																			0				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						c.(2407-2409)aCc>aTc		zinc finger homeobox 3		G	,ILE/THR	0,4396		0,0,2198	125.0	115.0	118.0		,2408	5.5	1.0	16	dbSNP_134	118	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense	ZFHX3	NM_001164766.1,NM_006885.3	,89	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	,possibly-damaging	,803/3704	72991637	3,12993	2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991637G>A	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.2408C>T	16.37:g.72991637G>A	ENSP00000268489:p.Thr803Ile					ZFHX3_ENST00000397992.5_Intron	p.T803I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3080	-		Ovarian(137;0.13)	803					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.2408C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761828	0.49468	0.0	3.49E-4	ENSG00000140836	ENST00000268489	T	0.42900	0.96	5.52	5.52	0.82312	.	0.000000	0.51477	D	0.000089	T	0.63827	0.2544	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.65397	-0.6178	10	0.87932	D	0	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	803	Q15911	ZFHX3_HUMAN	I	803	ENSP00000268489:T803I	ENSP00000268489:T803I	T	-	2	0	ZFHX3	71549138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.807000	0.99171	2.595000	0.87683	0.655000	0.94253	ACC		0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	175	0	0	0	1	0	4	175				
KY	339855	broad.mit.edu	37	3	134322554	134322554	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:134322554G>A	ENST00000423778.2	-	11	1914	c.1853C>T	c.(1852-1854)aCc>aTc	p.T618I	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Missense_Mutation_p.T597I	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GTGGTTCAGGGTCAGGGGCCA	0.552																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1789-1791)aCc>aTc		kyphoscoliosis peptidase							75.0	75.0	75.0					3																	134322554		2002	4185	6187	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322554G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1853C>T	3.37:g.134322554G>A	ENSP00000397598:p.Thr618Ile					KY_ENST00000423778.2_Missense_Mutation_p.T618I|KY_ENST00000503669.1_3'UTR	p.T597I			Q8NBH2	KY_HUMAN			10	1847	-			0					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.1790C>T	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241707	0.39598	.	.	ENSG00000174611	ENST00000508956;ENST00000423778	T;T	0.25749	1.78;1.78	5.5	5.5	0.81552	.	.	.	.	.	T	0.22003	0.0530	.	.	.	0.80722	D	1	B;B	0.32653	0.222;0.379	B;B	0.28553	0.045;0.091	T	0.02639	-1.1130	8	0.49607	T	0.09	.	13.6583	0.62352	0.0741:0.0:0.9259:0.0	.	597;618	Q8NBH2-3;Q8NBH2-4	.;.	I	597;618	ENSP00000421297:T597I;ENSP00000397598:T618I	ENSP00000397598:T618I	T	-	2	0	KY	135805244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.351000	0.59398	2.590000	0.87494	0.561000	0.74099	ACC		0.552	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		15	35	0	0	0	1	0	15	35				
OR7A5	26659	broad.mit.edu	37	19	14938763	14938763	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:14938763G>A	ENST00000322301.3	-	2	378	c.291C>T	c.(289-291)tgC>tgT	p.C97C	OR7A5_ENST00000594432.1_Silent_p.C97C|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	97					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCTGCATGAGGCAGGCTATGT	0.463																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(289-291)tgC>tgT		olfactory receptor, family 7, subfamily A, member 5							186.0	167.0	173.0					19																	14938763		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938763G>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.291C>T	19.37:g.14938763G>A						OR7A5_ENST00000594432.1_Silent_p.C97C|OR7A5_ENST00000601611.1_Intron	p.C97C			Q15622	OR7A5_HUMAN			2	378	-			97					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.291C>T	CCDS12318.1																																																																																				0.463	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		11	131	0	0	0	1	0	11	131				
TEF	7008	broad.mit.edu	37	22	41791806	41791806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:41791806G>A	ENST00000266304.4	+	4	870	c.754G>A	c.(754-756)Gat>Aat	p.D252N	TEF_ENST00000406644.3_Missense_Mutation_p.D222N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	252	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACGGTCACGGGATGCCCGGCG	0.582																																						ENST00000266304.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(754-756)Gat>Aat		thyrotrophic embryonic factor							92.0	82.0	85.0					22																	41791806		2203	4300	6503	SO:0001583	missense	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41791806G>A		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.754G>A	22.37:g.41791806G>A	ENSP00000266304:p.Asp252Asn					TEF_ENST00000406644.3_Missense_Mutation_p.D222N	p.D252N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN			4	870	+			252					B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Missense_Mutation	SNP	ENST00000266304.4	37	c.754G>A	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	G	36	5.879510	0.97062	.	.	ENSG00000167074	ENST00000406644;ENST00000433913;ENST00000266304	T;T	0.47177	0.85;0.85	5.8	5.8	0.92144	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.991	T	0.77378	-0.2610	10	0.87932	D	0	-24.3325	20.0693	0.97712	0.0:0.0:1.0:0.0	.	257;252;222	B4DIH3;Q10587;Q10587-2	.;TEF_HUMAN;.	N	222;222;252	ENSP00000385256:D222N;ENSP00000266304:D252N	ENSP00000266304:D252N	D	+	1	0	TEF	40121752	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.414000	0.97362	2.758000	0.94735	0.563000	0.77884	GAT		0.582	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		30	57	0	0	0	1	0	30	57				
SMC1B	27127	broad.mit.edu	37	22	45768119	45768119	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:45768119C>T	ENST00000357450.4	-	13	2111	c.2112G>A	c.(2110-2112)ctG>ctA	p.L704L	SMC1B_ENST00000404354.3_Silent_p.L704L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	704					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCCCTGTATCAGGGTCTGTA	0.333																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2110-2112)ctG>ctA		structural maintenance of chromosomes 1B							211.0	185.0	193.0					22																	45768119		1813	4076	5889	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45768119C>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2112G>A	22.37:g.45768119C>T						SMC1B_ENST00000404354.3_Silent_p.L704L	p.L704L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	2111	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	704					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.2112G>A	CCDS43027.1																																																																																				0.333	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		19	54	0	0	0	1	0	19	54				
FAM208B	54906	broad.mit.edu	37	10	5784166	5784166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:5784166C>T	ENST00000328090.5	+	14	3059	c.2434C>T	c.(2434-2436)Cga>Tga	p.R812*	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	812								p.R812R(1)									ACGATCTTCCCGAAAGGTTGT	0.398																																						ENST00000328090.5																			1	Substitution - coding silent(1)	p.R812R(1)	lung(1)								c.(2434-2436)Cga>Tga		family with sequence similarity 208, member B							113.0	104.0	107.0					10																	5784166		1867	4094	5961	SO:0001587	stop_gained	54906							g.chr10:5784166C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2434C>T	10.37:g.5784166C>T	ENSP00000328426:p.Arg812*					RP11-336A10.2_ENST00000411512.2_RNA	p.R812*	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			14	3059	+			812					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	ENST00000328090.5	37	c.2434C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	45	12.040265	0.99630	.	.	ENSG00000108021	ENST00000328090	.	.	.	5.57	3.56	0.40772	.	0.000000	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3257	0.60459	0.3888:0.6112:0.0:0.0	.	.	.	.	X	812	.	ENSP00000328426:R812X	R	+	1	2	C10orf18	5824172	0.943000	0.32029	0.998000	0.56505	0.730000	0.41778	1.742000	0.38248	1.290000	0.44636	0.655000	0.94253	CGA		0.398	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		6	131	0	0	0	1	0	6	131				
WNK4	65266	broad.mit.edu	37	17	40939404	40939404	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:40939404G>A	ENST00000246914.5	+	7	1606	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	529					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TAAAGCAAGGGAATTGGAGGC	0.627																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1585-1587)Gaa>Aaa		WNK lysine deficient protein kinase 4							120.0	112.0	114.0					17																	40939404		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939404G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1585G>A	17.37:g.40939404G>A	ENSP00000246914:p.Glu529Lys					WNK4_ENST00000587705.1_3'UTR	p.E529K	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1606	+		Breast(137;0.000143)	529					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1585G>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473080	0.43942	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.72167	-0.63	4.87	4.87	0.63330	.	0.139126	0.32687	N	0.005780	T	0.67515	0.2901	L	0.29908	0.895	0.48341	D	0.999637	P;P;P	0.43094	0.799;0.698;0.698	P;B;B	0.46026	0.501;0.419;0.305	T	0.72613	-0.4240	10	0.66056	D	0.02	-11.3517	17.6018	0.88027	0.0:0.0:1.0:0.0	.	529;529;529	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	K	529;301	ENSP00000246914:E529K	ENSP00000246914:E529K	E	+	1	0	WNK4	38192930	1.000000	0.71417	0.435000	0.26784	0.089000	0.18198	2.186000	0.42593	2.254000	0.74563	0.455000	0.32223	GAA		0.627	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			5	59	0	0	0	1	0	5	59				
CDH13	1012	broad.mit.edu	37	16	83813722	83813722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:83813722C>T	ENST00000566620.1	+	12	2121	c.1831C>T	c.(1831-1833)Ctt>Ttt	p.L611F	CDH13_ENST00000268613.10_Missense_Mutation_p.L658F|CDH13_ENST00000428848.3_Missense_Mutation_p.L572F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	611	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGATAAGGATCTTCACCCGAA	0.423																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1831-1833)Ctt>Ttt		cadherin 13							70.0	64.0	66.0					16																	83813722		1863	4115	5978	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83813722C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1831C>T	16.37:g.83813722C>T	ENSP00000454435:p.Leu611Phe					CDH13_ENST00000268613.10_Missense_Mutation_p.L658F|CDH13_ENST00000428848.3_Missense_Mutation_p.L572F	p.L611F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	12	2121	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	611			Cadherin 5.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1831C>T	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107271	0.77096	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T;T	0.74737	0.52;-0.87	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84515	0.5489	M	0.63843	1.955	0.80722	D	1	P;D;D	0.76494	0.956;0.996;0.999	D;D;D	0.71184	0.972;0.972;0.971	D	0.84366	0.0541	9	0.49607	T	0.09	.	18.4313	0.90627	0.0:1.0:0.0:0.0	.	572;658;611	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	F	658;611;572;313;170;301	ENSP00000268613:L658F;ENSP00000394557:L611F	ENSP00000268613:L658F	L	+	1	0	CDH13	82371223	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.148000	0.50647	2.569000	0.86673	0.655000	0.94253	CTT		0.423	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		4	34	0	0	0	1	0	4	34				
ZNF335	63925	broad.mit.edu	37	20	44589001	44589001	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44589001C>T	ENST00000322927.2	-	14	1966	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	ZNF335_ENST00000426788.1_Silent_p.K467K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	622					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGAACTCACACTTGAACCTGG	0.552																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1864-1866)aaG>aaA		zinc finger protein 335							80.0	95.0	90.0					20																	44589001		2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44589001C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1866G>A	20.37:g.44589001C>T						ZNF335_ENST00000426788.1_Silent_p.K467K	p.K622K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			14	1966	-		Myeloproliferative disorder(115;0.0122)	622					B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.1866G>A	CCDS13389.1																																																																																				0.552	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		4	51	0	0	0	1	0	4	51				
ZNF286A	57335	broad.mit.edu	37	17	15620515	15620515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:15620515C>T	ENST00000464847.2	+	5	2030	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	ZNF286A_ENST00000421016.1_Missense_Mutation_p.P493S|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.P493S|ZNF286A_ENST00000413242.2_Missense_Mutation_p.P493S|ZNF286A_ENST00000593105.1_Missense_Mutation_p.P483S|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CGGAGAGAAACCCTTTAGATG	0.398																																						ENST00000464847.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1477-1479)Ccc>Tcc		zinc finger protein 286A							39.0	43.0	41.0					17																	15620515		2189	4286	6475	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15620515C>T	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1477C>T	17.37:g.15620515C>T	ENSP00000464218:p.Pro493Ser					ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.P483S|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.P493S|ZNF286A_ENST00000421016.1_Missense_Mutation_p.P493S|ZNF286A_ENST00000413242.2_Missense_Mutation_p.P493S	p.P493S			Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	2030	+			493					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.1477C>T	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	c	19.05	3.751158	0.69533	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.28454	1.61;1.61	4.44	3.41	0.39046	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41194	D	0.000921	T	0.48589	0.1508	L	0.58302	1.8	0.43263	D	0.995207	D	0.89917	1.0	D	0.87578	0.998	T	0.49495	-0.8934	10	0.66056	D	0.02	-12.1898	11.5608	0.50776	0.1784:0.8216:0.0:0.0	.	493	Q9HBT8	Z286A_HUMAN	S	493;483;493	ENSP00000397163:P493S;ENSP00000408168:P483S	ENSP00000435872:P493S	P	+	1	0	ZNF286A	15561240	1.000000	0.71417	0.870000	0.34147	0.993000	0.82548	5.725000	0.68507	2.296000	0.77279	0.650000	0.86243	CCC		0.398	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		5	10	0	0	0	1	0	5	10				
AKR1B15	441282	broad.mit.edu	37	7	134253029	134253029	+	Silent	SNP	G	G	A	rs539015857		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:134253029G>A	ENST00000457545.2	+	4	530	c.270G>A	c.(268-270)aaG>aaA	p.K90K	AKR1B15_ENST00000423958.1_Silent_p.K62K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	90							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TCCAAGAGAAGATCCAAGAGA	0.507																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(268-270)aaG>aaA		aldo-keto reductase family 1, member B15							164.0	168.0	167.0					7																	134253029		2203	4300	6503	SO:0001819	synonymous_variant	441282						oxidoreductase activity	g.chr7:134253029G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.270G>A	7.37:g.134253029G>A						AKR1B15_ENST00000423958.1_Silent_p.K62K	p.K90K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			4	530	+			90					C9J3V2	Silent	SNP	ENST00000457545.2	37	c.270G>A	CCDS47715.2																																																																																				0.507	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			4	146	0	0	0	1	0	4	146				
TLE2	7089	broad.mit.edu	37	19	3009684	3009684	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:3009684C>T	ENST00000262953.6	-	13	1291	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	TLE2_ENST00000591529.1_Silent_p.L357L|TLE2_ENST00000426948.2_Silent_p.L357L|TLE2_ENST00000443826.3_Silent_p.L221L|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Silent_p.L221L|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000590536.1_Silent_p.L344L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	343	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TGGACAGAGTCAGGGGGCTCC	0.642																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1027-1029)ctG>ctA		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							36.0	46.0	43.0					19																	3009684		1996	4167	6163	SO:0001819	synonymous_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3009684C>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1029G>A	19.37:g.3009684C>T						TLE2_ENST00000590536.1_Silent_p.L344L|TLE2_ENST00000443826.3_Silent_p.L221L|TLE2_ENST00000455444.2_Silent_p.L221L|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000426948.2_Silent_p.L357L|TLE2_ENST00000591529.1_Silent_p.L357L|TLE2_ENST00000586422.1_Intron	p.L343L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1291	-			343			Pro/Ser-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	ENST00000262953.6	37	c.1029G>A	CCDS45911.1																																																																																				0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		11	15	0	0	0	1	0	11	15				
TEX11	56159	broad.mit.edu	37	X	69772032	69772032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:69772032G>A	ENST00000395889.2	-	29	2664	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	TEX11_ENST00000374333.2_Missense_Mutation_p.P822S|TEX11_ENST00000374320.2_Missense_Mutation_p.P512S|TEX11_ENST00000344304.3_Missense_Mutation_p.P837S	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	837					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTTCCAGGGGACAGAGCTCT	0.403																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(2509-2511)Ccc>Tcc		testis expressed 11							80.0	70.0	73.0					X																	69772032		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69772032G>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2509C>T	X.37:g.69772032G>A	ENSP00000379226:p.Pro837Ser					TEX11_ENST00000374320.2_Missense_Mutation_p.P512S|TEX11_ENST00000374333.2_Missense_Mutation_p.P822S|TEX11_ENST00000344304.3_Missense_Mutation_p.P837S	p.P837S	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			29	2664	-	Renal(35;0.156)		837					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2509C>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	0.304	-0.971739	0.02215	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.40225	1.63;1.63;1.04;1.63	4.96	3.16	0.36331	.	0.419774	0.22138	N	0.064099	T	0.30727	0.0774	L	0.39898	1.24	0.09310	N	1	P;P	0.45715	0.865;0.473	B;B	0.42555	0.391;0.111	T	0.10776	-1.0615	9	.	.	.	-2.5275	4.7645	0.13125	0.2023:0.1758:0.6219:0.0	.	822;837	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	S	822;837;512;837	ENSP00000363453:P822S;ENSP00000379226:P837S;ENSP00000363440:P512S;ENSP00000340995:P837S	.	P	-	1	0	TEX11	69688757	0.579000	0.26725	0.068000	0.19968	0.842000	0.47809	0.868000	0.27982	1.090000	0.41315	0.600000	0.82982	CCC		0.403	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			29	32	0	0	0	1	0	29	32				
ZNF609	23060	broad.mit.edu	37	15	64966373	64966373	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:64966373G>A	ENST00000326648.3	+	4	1448	c.1320G>A	c.(1318-1320)cgG>cgA	p.R440R	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	440						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTAATAAGCGGAAAAACAAAC	0.557																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1318-1320)cgG>cgA		zinc finger protein 609							73.0	74.0	73.0					15																	64966373		2203	4299	6502	SO:0001819	synonymous_variant	23060					nucleus	zinc ion binding	g.chr15:64966373G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1320G>A	15.37:g.64966373G>A						ZNF609_ENST00000559364.1_3'UTR	p.R440R	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	1448	+			440					Q0D2I2	Silent	SNP	ENST00000326648.3	37	c.1320G>A	CCDS32270.1																																																																																				0.557	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		4	86	0	0	0	1	0	4	86				
ESYT1	23344	broad.mit.edu	37	12	56524709	56524709	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56524709G>A	ENST00000394048.5	+	3	831	c.567G>A	c.(565-567)aaG>aaA	p.K189K	ESYT1_ENST00000541590.1_Splice_Site_p.K189K|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Splice_Site_p.K189K	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	189	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGGTGAAAAGGTATGTGTGG	0.522																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.e3+1		extended synaptotagmin-like protein 1							56.0	57.0	57.0					12																	56524709		2203	4300	6503	SO:0001630	splice_region_variant	23344					integral to membrane		g.chr12:56524709G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.567+1G>A	12.37:g.56524709G>A						ESYT1_ENST00000541590.1_Splice_Site_p.K189_splice|ESYT1_ENST00000267113.4_Splice_Site_p.K189_splice	p.K189_splice	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			3	831	+			189					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Splice_Site	SNP	ENST00000394048.5	37	c.567_splice	CCDS8904.1																																																																																				0.522	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292	Silent	27	42	0	0	0	1	0	27	42				
MYO9A	4649	broad.mit.edu	37	15	72119267	72119267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:72119267G>A	ENST00000356056.5	-	42	7773	c.7301C>T	c.(7300-7302)tCc>tTc	p.S2434F	MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.S2505F|MYO9A_ENST00000444904.1_Missense_Mutation_p.S2415F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2434	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACATAAAGAGGAGACCGAAGA	0.453																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(7300-7302)tCc>tTc		myosin IXA							78.0	79.0	79.0					15																	72119267		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72119267G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7301C>T	15.37:g.72119267G>A	ENSP00000348349:p.Ser2434Phe					MYO9A_ENST00000444904.1_Missense_Mutation_p.S2415F|MYO9A_ENST00000424560.1_Missense_Mutation_p.S2505F|MYO9A_ENST00000564571.1_3'UTR	p.S2434F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			42	7773	-			2434			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.7301C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525160	0.27299	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.86497	-2.13;-2.13;-2.13	5.32	2.42	0.29668	.	.	.	.	.	T	0.77844	0.4191	N	0.19112	0.55	0.09310	N	0.999992	B;B	0.17465	0.022;0.005	B;B	0.17098	0.017;0.015	T	0.66571	-0.5890	9	0.66056	D	0.02	.	9.081	0.36552	0.2186:0.0:0.7814:0.0	.	2434;2198	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	F	2434;2505;2415	ENSP00000348349:S2434F;ENSP00000399162:S2505F;ENSP00000398250:S2415F	ENSP00000348349:S2434F	S	-	2	0	MYO9A	69906321	1.000000	0.71417	0.001000	0.08648	0.078000	0.17371	6.718000	0.74713	0.241000	0.21283	0.655000	0.94253	TCC		0.453	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		6	56	0	0	0	1	0	6	56				
RBM17	84991	broad.mit.edu	37	10	6155517	6155517	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:6155517G>A	ENST00000446108.1	+	9	1547	c.903G>A	c.(901-903)aaG>aaA	p.K301K	RBM17_ENST00000379888.4_Silent_p.K301K|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	301					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AAATACTTAAGTGTCCTACTA	0.443																																						ENST00000446108.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(901-903)aaG>aaA		RNA binding motif protein 17							121.0	125.0	123.0					10																	6155517		2203	4300	6503	SO:0001819	synonymous_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6155517G>A	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.903G>A	10.37:g.6155517G>A						RBM17_ENST00000379888.4_Silent_p.K301K|RBM17_ENST00000476706.1_3'UTR	p.K301K	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN			9	1547	+			301					Q96GY6	Silent	SNP	ENST00000446108.1	37	c.903G>A	CCDS7077.1																																																																																				0.443	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		34	116	0	0	0	1	0	34	116				
DQX1	165545	broad.mit.edu	37	2	74745624	74745624	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74745624C>T	ENST00000404568.3	-	12	2322	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	DQX1_ENST00000393951.2_Silent_p.G701G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	701						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ATGATTTGCTCCCTGCTGTAG	0.512																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(2101-2103)ggG>ggA		DEAQ box RNA-dependent ATPase 1							158.0	140.0	146.0					2																	74745624		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74745624C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.2103G>A	2.37:g.74745624C>T						DQX1_ENST00000393951.2_Silent_p.G701G	p.G701G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			12	2322	-			701					Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.2103G>A	CCDS1949.2																																																																																				0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		6	41	0	0	0	1	0	6	41				
GPR171	29909	broad.mit.edu	37	3	150916948	150916948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:150916948C>T	ENST00000309180.5	-	3	456	c.226G>A	c.(226-228)Ggt>Agt	p.G76S	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	76					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGCCACACCCAAGTCAACA	0.393																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(226-228)Ggt>Agt		G protein-coupled receptor 171							89.0	87.0	88.0					3																	150916948		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916948C>T	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.226G>A	3.37:g.150916948C>T	ENSP00000308479:p.Gly76Ser					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.G76S	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	456	-			76					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.226G>A	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893469	0.72639	.	.	ENSG00000174946	ENST00000309180	T	0.71461	-0.57	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	N	0.16368	0.405	0.42281	D	0.992096	D	0.89917	1.0	D	0.80764	0.994	T	0.66444	-0.5922	10	0.10377	T	0.69	-10.7679	19.2521	0.93929	0.0:1.0:0.0:0.0	.	76	O14626	GP171_HUMAN	S	76	ENSP00000308479:G76S	ENSP00000308479:G76S	G	-	1	0	GPR171	152399638	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	5.301000	0.65727	2.542000	0.85734	0.655000	0.94253	GGT		0.393	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		3	52	0	0	0	1	0	3	52				
C17orf74	201243	broad.mit.edu	37	17	7330220	7330220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7330220G>A	ENST00000333870.3	+	3	984	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	304						integral component of membrane (GO:0016021)		p.G304S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCCTCAGTGGGCTGGATGCT	0.697																																						ENST00000333870.3																			1	Substitution - Missense(1)	p.G304S(1)	skin(1)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(910-912)Ggc>Agc		chromosome 17 open reading frame 74							30.0	31.0	31.0					17																	7330220		2002	4169	6171	SO:0001583	missense	201243					integral to membrane		g.chr17:7330220G>A	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.910G>A	17.37:g.7330220G>A	ENSP00000328061:p.Gly304Ser					C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	p.G304S	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	984	+		Prostate(122;0.157)	304						Missense_Mutation	SNP	ENST00000333870.3	37	c.910G>A	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291495	0.40494	.	.	ENSG00000184560	ENST00000333870	T	0.38722	1.12	3.91	3.91	0.45181	.	0.318370	0.22714	N	0.056537	T	0.49983	0.1589	L	0.34521	1.04	0.45284	D	0.998285	D	0.76494	0.999	D	0.71414	0.973	T	0.49643	-0.8918	10	0.54805	T	0.06	-11.682	11.6046	0.51024	0.0:0.0:1.0:0.0	.	304	Q0P670	CQ074_HUMAN	S	304	ENSP00000328061:G304S	ENSP00000328061:G304S	G	+	1	0	C17orf74	7270944	0.976000	0.34144	0.075000	0.20258	0.068000	0.16541	3.492000	0.53259	2.173000	0.68751	0.486000	0.48141	GGC		0.697	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		15	40	0	0	0	1	0	15	40				
LRRC29	26231	broad.mit.edu	37	16	67241819	67241819	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67241819G>A	ENST00000409037.1	-	3	1356	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	LRRC29_ENST00000393992.1_Silent_p.L154L|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000341546.3_Silent_p.L154L|LRRC29_ENST00000409509.1_Silent_p.L154L			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	154	F-box.									autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGATGCTGCAGCCTTGGCCAG	0.637																																						ENST00000409037.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(460-462)Ctg>Ttg		leucine rich repeat containing 29							43.0	45.0	44.0					16																	67241819		2197	4300	6497	SO:0001819	synonymous_variant	26231							g.chr16:67241819G>A	AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"""F-box and leucine-rich repeat protein 9"""	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.460C>T	16.37:g.67241819G>A						LRRC29_ENST00000393992.1_Silent_p.L154L|LRRC29_ENST00000409509.1_Silent_p.L154L|LRRC29_ENST00000341546.3_Silent_p.L154L	p.L154L			Q8WV35	LRC29_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	3	1356	-		Ovarian(137;0.0563)	154			F-box.		B2RE92|Q9UKA0	Silent	SNP	ENST00000409037.1	37	c.460C>T	CCDS32465.1																																																																																				0.637	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335073.1	NM_012163		33	43	0	0	0	1	0	33	43				
ABTB2	25841	broad.mit.edu	37	11	34378363	34378363	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:34378363C>T	ENST00000435224.2	-	1	1192	c.768G>A	c.(766-768)ggG>ggA	p.G256G	ABTB2_ENST00000298992.2_Silent_p.G70G	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	256					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CGCCTCCGGCCCCTCCGCCAT	0.652																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(766-768)ggG>ggA		ankyrin repeat and BTB (POZ) domain containing 2							22.0	21.0	21.0					11																	34378363		2201	4297	6498	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34378363C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.768G>A	11.37:g.34378363C>T						ABTB2_ENST00000298992.2_Silent_p.G70G	p.G256G	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			1	1192	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	70					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.768G>A	CCDS7890.2																																																																																				0.652	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		5	9	0	0	0	1	0	5	9				
MED25	81857	broad.mit.edu	37	19	50334116	50334116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:50334116C>T	ENST00000312865.6	+	9	1126	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	MED25_ENST00000538643.1_Missense_Mutation_p.P145L	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	358	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GGCCTGGCTCCCACGGCACAG	0.687																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1072-1074)cCc>cTc		mediator complex subunit 25							39.0	46.0	44.0					19																	50334116		2198	4296	6494	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50334116C>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1073C>T	19.37:g.50334116C>T	ENSP00000326767:p.Pro358Leu					MED25_ENST00000538643.1_Missense_Mutation_p.P145L	p.P358L	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	9	1126	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	358			Pro-rich.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.1073C>T	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904207	0.92035	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	D;D	0.87029	-2.2;-2.2	5.72	5.72	0.89469	Mediator complex, subunit Med25, synapsin 1 (1);	0.119069	0.56097	D	0.000021	T	0.81749	0.4888	N	0.24115	0.695	0.38202	D	0.940218	B;B;B	0.23442	0.025;0.085;0.025	B;B;B	0.27887	0.084;0.084;0.084	T	0.77827	-0.2443	10	0.34782	T	0.22	.	18.6661	0.91491	0.0:1.0:0.0:0.0	.	145;358;358	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	L	358;358;358;358;358;145;93	ENSP00000326767:P358L;ENSP00000437496:P145L	ENSP00000326767:P358L	P	+	2	0	MED25	55025928	0.785000	0.28726	0.636000	0.29352	0.206000	0.24218	3.671000	0.54576	2.711000	0.92665	0.655000	0.94253	CCC		0.687	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		7	56	0	0	0	1	0	7	56				
CLIP2	7461	broad.mit.edu	37	7	73771724	73771724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:73771724G>A	ENST00000395060.1	+	5	1132	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	CLIP2_ENST00000361545.5_Missense_Mutation_p.E378K|CLIP2_ENST00000223398.6_Missense_Mutation_p.E378K			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	378						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACGAGACCTGGAACGGGCTGA	0.617																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(1132-1134)Gaa>Aaa		CAP-GLY domain containing linker protein 2																																				SO:0001583	missense	7461					microtubule associated complex		g.chr7:73771724G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1132G>A	7.37:g.73771724G>A	ENSP00000378500:p.Glu378Lys					CLIP2_ENST00000361545.5_Missense_Mutation_p.E378K|CLIP2_ENST00000395060.1_Missense_Mutation_p.E378K	p.E378K	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			6	1459	+			378					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.1132G>A	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256103	0.95336	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.63580	-0.04;-0.05;-0.04	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.83695	0.0179	10	0.72032	D	0.01	-36.0243	16.6549	0.85225	0.0:0.0:1.0:0.0	.	378;378	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	K	378	ENSP00000223398:E378K;ENSP00000355151:E378K;ENSP00000378500:E378K	ENSP00000223398:E378K	E	+	1	0	CLIP2	73409660	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.337000	0.96545	2.507000	0.84556	0.561000	0.74099	GAA		0.617	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		10	27	0	0	0	1	0	10	27				
KDR	3791	broad.mit.edu	37	4	55964863	55964863	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:55964863C>T	ENST00000263923.4	-	16	2669		c.e16+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATTTTTTTACCCGCTTAACG	0.418			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				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						c.e16+1		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						82.0	85.0	84.0					4																	55964863		2203	4300	6503	SO:0001630	splice_region_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964863C>T	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.2373+1G>A	4.37:g.55964863C>T		TSP Lung(20;0.16)						NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		16	2669	-	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)							A2RRS0|B5A925|C5IFA0|O60723|Q14178	Splice_Site	SNP	ENST00000263923.4	37		CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594548	0.86953	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDR	55659620	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.414000	0.80117	2.831000	0.97527	0.655000	0.94253	.		0.418	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Intron	32	50	0	0	0	1	0	32	50				
PPM1F	9647	broad.mit.edu	37	22	22293960	22293960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22293960C>T	ENST00000263212.5	-	3	404	c.299G>A	c.(298-300)aGg>aAg	p.R100K	PPM1F_ENST00000407142.1_5'Flank|PPM1F_ENST00000486259.1_5'Flank|PPM1F_ENST00000397495.4_Missense_Mutation_p.R100K|LL22NC03-86G7.1_ENST00000458178.1_RNA|LL22NC03-86G7.1_ENST00000538634.1_RNA|PPM1F_ENST00000538191.1_5'Flank	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	100					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		ttcttcctccCTGGGCAACTT	0.572																																						ENST00000263212.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(298-300)aGg>aAg		protein phosphatase, Mg2+/Mn2+ dependent, 1F							98.0	75.0	83.0					22																	22293960		2201	4298	6499	SO:0001583	missense	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22293960C>T	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.299G>A	22.37:g.22293960C>T	ENSP00000263212:p.Arg100Lys					PPM1F_ENST00000397495.4_Missense_Mutation_p.R100K|LL22NC03-86G7.1_ENST00000458178.1_RNA|LL22NC03-86G7.1_ENST00000538634.1_RNA	p.R100K	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	3	404	-	Colorectal(54;0.105)		100					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.299G>A	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	7.112	0.576303	0.13686	.	.	ENSG00000100034	ENST00000263212;ENST00000397495	T;T	0.20463	2.65;2.07	4.1	-2.83	0.05769	.	1.374030	0.04717	N	0.418631	T	0.15046	0.0363	L	0.44542	1.39	0.09310	N	0.999993	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.38714	-0.9648	10	0.02654	T	1	-20.3248	9.4286	0.38595	0.0:0.3813:0.0:0.6187	.	100;100	A8MX49;P49593	.;PPM1F_HUMAN	K	100	ENSP00000263212:R100K;ENSP00000380632:R100K	ENSP00000263212:R100K	R	-	2	0	PPM1F	20623960	0.000000	0.05858	0.000000	0.03702	0.497000	0.33675	-0.300000	0.08243	-0.306000	0.08818	0.305000	0.20034	AGG		0.572	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		3	8	0	0	0	1	0	3	8				
FARP1	10160	broad.mit.edu	37	13	99090021	99090021	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:99090021C>T	ENST00000319562.6	+	20	2539				FARP1_ENST00000595437.1_Splice_Site_p.P759L|FARP1_ENST00000376586.2_Splice_Site_p.P759L|FARP1-AS1_ENST00000432229.1_RNA	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			tcccaccagcctggctccttt	0.512																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.e20-1		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							89.0	83.0	85.0					13																	99090021		876	1991	2867	SO:0001627	intron_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99090021C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2275-1037C>T	13.37:g.99090021C>T						FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Splice_Site_p.P759_splice	p.P759_splice			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		20	2612	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		758			PH 1.		Q5JVI9|Q6IQ29	Splice_Site	SNP	ENST00000319562.6	37	c.2274_splice	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	0.126	-1.119940	0.01785	.	.	ENSG00000152767	ENST00000376586	T	0.77098	-1.07	0.235	0.235	0.15431	.	3.164380	0.04059	U	0.306015	T	0.63721	0.2535	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46289	-0.9202	8	0.27785	T	0.31	.	.	.	.	.	759	C9JME2	.	L	759	ENSP00000365771:P759L	ENSP00000365771:P759L	P	+	2	0	FARP1	97888022	0.008000	0.16893	0.017000	0.16124	0.017000	0.09413	0.281000	0.18810	0.308000	0.22923	0.313000	0.20887	CCT		0.512	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		12	44	0	0	0	1	0	12	44				
ASH1L	55870	broad.mit.edu	37	1	155408672	155408672	+	Silent	SNP	G	G	A	rs374019092		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155408672G>A	ENST00000368346.3	-	5	5913	c.5274C>T	c.(5272-5274)acC>acT	p.T1758T	ASH1L_ENST00000392403.3_Silent_p.T1758T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1758	Ser-rich.				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)			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)			GTTTTCCCAGGGTTCGGTCCT	0.502																																						ENST00000368346.3																			0				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						c.(5272-5274)acC>acT		ash1 (absent, small, or homeotic)-like (Drosophila)		G		0,4406		0,0,2203	96.0	82.0	86.0		5274	1.2	0.4	1		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASH1L	NM_018489.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1758/2965	155408672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408672G>A	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.5274C>T	1.37:g.155408672G>A						ASH1L_ENST00000392403.3_Silent_p.T1758T	p.T1758T			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	5913	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1758			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.5274C>T																																																																																					0.502	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		13	68	0	0	0	1	0	13	68				
ASTL	431705	broad.mit.edu	37	2	96801150	96801150	+	Splice_Site	SNP	C	C	T	rs144520713	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96801150C>T	ENST00000342380.2	-	3	182	c.183G>A	c.(181-183)ggG>ggA	p.G61G		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCAGGATGAGCCCTGGGAAAG	0.557																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.e3-1		astacin-like metallo-endopeptidase (M12 family)							86.0	73.0	77.0					2																	96801150		2203	4300	6503	SO:0001630	splice_region_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96801150C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.182-1G>A	2.37:g.96801150C>T							p.G61_splice	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			3	182	-			61						Splice_Site	SNP	ENST00000342380.2	37	c.181_splice	CCDS33249.1																																																																																				0.557	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		Silent	6	10	0	0	0	1	0	6	10				
SPAG5	10615	broad.mit.edu	37	17	26911415	26911415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26911415C>T	ENST00000321765.5	-	12	2577	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	749	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATAGCCAGGTCCTGGGCACAA	0.522																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2245-2247)Gac>Aac		sperm associated antigen 5							213.0	195.0	201.0					17																	26911415		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26911415C>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2245G>A	17.37:g.26911415C>T	ENSP00000323300:p.Asp749Asn						p.D749N	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			12	2577	-	Lung NSC(42;0.00431)		749			Gln-rich.		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2245G>A	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000554	0.54254	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	T	0.27256	1.68	6.02	4.05	0.47172	.	0.087627	0.49305	D	0.000147	T	0.37046	0.0989	L	0.36672	1.1	0.28444	N	0.916657	D	0.89917	1.0	D	0.87578	0.998	T	0.11470	-1.0586	10	0.46703	T	0.11	-2.7511	9.3775	0.38292	0.0:0.837:0.0:0.163	.	749	Q96R06	SPAG5_HUMAN	N	749;246	ENSP00000444223:D246N	ENSP00000323300:D749N	D	-	1	0	SPAG5	23935542	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.908000	0.56355	0.890000	0.36211	-0.142000	0.14014	GAC		0.522	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		34	172	0	0	0	1	0	34	172				
TOP2B	7155	broad.mit.edu	37	3	25639875	25639875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:25639875G>A	ENST00000264331.4	-	36	4803	c.4804C>T	c.(4804-4806)Cgg>Tgg	p.R1602W	TOP2B_ENST00000540199.1_Missense_Mutation_p.R454W|TOP2B_ENST00000542520.1_Missense_Mutation_p.R454W|TOP2B_ENST00000435706.2_Missense_Mutation_p.R1597W	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1602					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TTCCTAGCCCGACCGGTTCGT	0.413																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(4789-4791)Cgg>Tgg		topoisomerase (DNA) II beta 180kDa							98.0	100.0	99.0					3																	25639875		1858	4098	5956	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25639875G>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4804C>T	3.37:g.25639875G>A	ENSP00000264331:p.Arg1602Trp					TOP2B_ENST00000542520.1_Missense_Mutation_p.R454W|TOP2B_ENST00000264331.4_Missense_Mutation_p.R1602W|TOP2B_ENST00000540199.1_Missense_Mutation_p.R454W	p.R1597W			Q02880	TOP2B_HUMAN			36	4990	-			1602					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.4789C>T		.	.	.	.	.	.	.	.	.	.	G	14.79	2.639894	0.47153	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.64	3.69	0.42338	DTHCT (1);	0.124655	0.52532	D	0.000068	T	0.65512	0.2698	N	0.08118	0	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.71500	-0.4574	10	0.87932	D	0	-8.9995	13.4062	0.60915	0.0:0.0:0.6607:0.3393	.	1602;1597	Q02880;Q02880-2	TOP2B_HUMAN;.	W	454;1597;1602;454	ENSP00000446023:R454W;ENSP00000396704:R1597W;ENSP00000264331:R1602W;ENSP00000437352:R454W	ENSP00000264331:R1602W	R	-	1	2	TOP2B	25614879	1.000000	0.71417	0.964000	0.40570	0.972000	0.66771	4.711000	0.61881	0.656000	0.30886	0.591000	0.81541	CGG		0.413	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				25	38	0	0	0	1	0	25	38				
RAD51AP2	729475	broad.mit.edu	37	2	17698188	17698188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:17698188C>T	ENST00000399080.2	-	1	1518	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	499										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACATGAAAGACTTTTTGTGTA	0.274																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1495-1497)Gtc>Atc		RAD51 associated protein 2							76.0	67.0	70.0					2																	17698188		1794	4062	5856	SO:0001583	missense	729475							g.chr2:17698188C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1495G>A	2.37:g.17698188C>T	ENSP00000382030:p.Val499Ile						p.V499I	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1518	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		499						Missense_Mutation	SNP	ENST00000399080.2	37	c.1495G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	7.537	0.659858	0.14645	.	.	ENSG00000214842	ENST00000399080	T	0.23147	1.92	4.95	-8.82	0.00810	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.27773	-1.0064	9	0.10377	T	0.69	10.5523	2.1777	0.03866	0.2938:0.1318:0.0904:0.484	.	499	Q09MP3	R51A2_HUMAN	I	499	ENSP00000382030:V499I	ENSP00000382030:V499I	V	-	1	0	RAD51AP2	17561669	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.032000	0.03574	-1.897000	0.01101	-1.364000	0.01208	GTC		0.274	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		77	272	0	0	0	1	0	77	272				
KIAA2018	205717	broad.mit.edu	37	3	113379366	113379366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:113379366G>A	ENST00000478658.1	-	5	1180	c.1163C>T	c.(1162-1164)aCt>aTt	p.T388I	KIAA2018_ENST00000316407.4_Missense_Mutation_p.T388I|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	388						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCCGAAAGAGTGCTTATAGG	0.433																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(1162-1164)aCt>aTt		KIAA2018							89.0	83.0	85.0					3																	113379366		1932	4124	6056	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113379366G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1163C>T	3.37:g.113379366G>A	ENSP00000420721:p.Thr388Ile					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.T388I	p.T388I	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	1573	-			388					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1163C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	3.283	-0.146586	0.06627	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15834	2.39;2.39	4.73	-0.639	0.11497	.	0.627487	0.15354	N	0.266768	T	0.11067	0.0270	N	0.19112	0.55	0.20873	N	0.999836	B	0.29432	0.244	B	0.30029	0.11	T	0.24512	-1.0158	10	0.62326	D	0.03	-1.4355	11.4761	0.50300	0.0739:0.5473:0.3788:0.0	.	388	Q68DE3	K2018_HUMAN	I	388	ENSP00000320794:T388I;ENSP00000420721:T388I	ENSP00000320794:T388I	T	-	2	0	KIAA2018	114862056	0.988000	0.35896	0.003000	0.11579	0.360000	0.29518	1.707000	0.37888	-0.065000	0.13021	0.650000	0.86243	ACT		0.433	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		20	32	0	0	0	1	0	20	32				
REEP1	65055	broad.mit.edu	37	2	86459829	86459829	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:86459829G>A	ENST00000165698.5	-	6	657	c.514C>T	c.(514-516)Cca>Tca	p.P172S	REEP1_ENST00000541910.1_Silent_p.H93H|REEP1_ENST00000473407.1_5'Flank|REEP1_ENST00000540790.1_Missense_Mutation_p.P151S|REEP1_ENST00000538924.1_Missense_Mutation_p.P179S|REEP1_ENST00000535845.1_Missense_Mutation_p.P145S	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	172	Poly-Pro.				cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GACCCCGGTGGTGGGGGGCCC	0.647																																						ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(514-516)Cca>Tca		receptor accessory protein 1							34.0	33.0	33.0					2																	86459829		2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459829G>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.514C>T	2.37:g.86459829G>A	ENSP00000165698:p.Pro172Ser					REEP1_ENST00000541910.1_Silent_p.H93H|REEP1_ENST00000540790.1_Missense_Mutation_p.P151S|REEP1_ENST00000535845.1_Missense_Mutation_p.P145S|REEP1_ENST00000538924.1_Missense_Mutation_p.P179S	p.P172S	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			6	657	-			172			Poly-Pro.		B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.514C>T	CCDS1989.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833858	0.50951	.	.	ENSG00000068615	ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231	D;D;T;T;D	0.86865	-2.16;-2.18;-1.32;-1.32;-2.18	5.48	5.48	0.80851	.	0.184917	0.38778	N	0.001563	D	0.85168	0.5635	.	.	.	0.28113	N	0.930909	P;P;P	0.43826	0.689;0.793;0.818	B;B;B	0.42738	0.16;0.396;0.262	T	0.81102	-0.1085	9	0.40728	T	0.16	.	16.6378	0.85063	0.0:0.0:1.0:0.0	.	145;151;172	B7Z5R9;F5H7Z9;Q9H902	.;.;REEP1_HUMAN	S	172;179;145;151;179	ENSP00000165698:P172S;ENSP00000438346:P179S;ENSP00000437567:P145S;ENSP00000443831:P151S;ENSP00000392197:P179S	ENSP00000165698:P172S	P	-	1	0	REEP1	86313340	0.997000	0.39634	0.337000	0.25536	0.193000	0.23685	1.768000	0.38511	2.730000	0.93505	0.655000	0.94253	CCA		0.647	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		11	21	0	0	0	1	0	11	21				
CAMSAP1	157922	broad.mit.edu	37	9	138713762	138713762	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:138713762G>A	ENST00000389532.4	-	11	2809	c.2745C>T	c.(2743-2745)ttC>ttT	p.F915F	CAMSAP1_ENST00000409386.3_Silent_p.F926F|CAMSAP1_ENST00000312405.6_Silent_p.F637F|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	915	Sufficient for interaction with calmodulin.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCACATGCAGGAATGCAGCCT	0.627																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(2743-2745)ttC>ttT		calmodulin regulated spectrin-associated protein 1							79.0	87.0	84.0					9																	138713762		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138713762G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2745C>T	9.37:g.138713762G>A						CAMSAP1_ENST00000312405.6_Silent_p.F637F|CAMSAP1_ENST00000409386.3_Silent_p.F926F|CAMSAP1_ENST00000483991.1_5'UTR	p.F915F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2809	-			915					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.2745C>T	CCDS35176.2																																																																																				0.627	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		62	114	0	0	0	1	0	62	114				
NKD1	85407	broad.mit.edu	37	16	50664156	50664156	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:50664156C>T	ENST00000268459.3	+	7	746	c.522C>T	c.(520-522)tcC>tcT	p.S174S		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCAACCACTCCCCAACATCCA	0.587																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(520-522)tcC>tcT		naked cuticle homolog 1 (Drosophila)							86.0	74.0	78.0					16																	50664156		2198	4300	6498	SO:0001819	synonymous_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50664156C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.522C>T	16.37:g.50664156C>T							p.S174S	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	7	746	+		all_cancers(37;0.229)	174			Interaction with DVL1, DVL2 and DVL3 (By similarity).		B2RC39|Q8WZ08	Silent	SNP	ENST00000268459.3	37	c.522C>T	CCDS10743.1																																																																																				0.587	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			27	62	0	0	0	1	0	27	62				
CHCHD5	84269	broad.mit.edu	37	2	113346443	113346443	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113346443G>A	ENST00000324913.5	+	4	517	c.310G>A	c.(310-312)Gca>Aca	p.A104T	AC012442.6_ENST00000436885.1_lincRNA|AC012442.5_ENST00000414784.1_RNA|CHCHD5_ENST00000409719.1_3'UTR	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	104						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TTCTCCACAGGCACAGCCACT	0.592																																						ENST00000324913.5																			0				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						c.e4-1		coiled-coil-helix-coiled-coil-helix domain containing 5							91.0	74.0	80.0					2																	113346443		2203	4300	6503	SO:0001630	splice_region_variant	84269							g.chr2:113346443G>A	BC004498	CCDS2098.1	2q14.1	2012-10-15	2004-01-19	2004-01-21	ENSG00000125611	ENSG00000125611		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	17840	protein-coding gene	gene with protein product	"""mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae)"""		"""chromosome 2 open reading frame 9"""	C2orf9		22842048	Standard	NM_032309		Approved	MGC11104, MIC14	uc002thz.1	Q9BSY4	OTTHUMG00000131312	ENST00000324913.5:c.310-1G>A	2.37:g.113346443G>A						CHCHD5_ENST00000409719.1_3'UTR	p.A104_splice	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN			4	517	+			104					Q585T4|Q8N8C4	Splice_Site	SNP	ENST00000324913.5	37	c.309_splice	CCDS2098.1	.	.	.	.	.	.	.	.	.	.	G	9.891	1.204333	0.22205	.	.	ENSG00000125611	ENST00000324913	T	0.17854	2.25	4.07	0.315	0.15852	.	.	.	.	.	T	0.09158	0.0226	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26018	-1.0115	8	.	.	.	.	6.4956	0.22140	0.414:0.0:0.586:0.0	.	104	Q9BSY4	CHCH5_HUMAN	T	104	ENSP00000325655:A104T	.	A	+	1	0	CHCHD5	113062914	0.773000	0.28580	0.824000	0.32777	0.567000	0.35839	-0.401000	0.07232	0.047000	0.15862	-0.217000	0.12591	GCA		0.592	CHCHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254081.2	NM_032309	Missense_Mutation	15	18	0	0	0	1	0	15	18				
RPL36	25873	broad.mit.edu	37	19	5691425	5691425	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:5691425C>T	ENST00000577222.1	+	5	733	c.189C>T	c.(187-189)gtC>gtT	p.V63V	RPL36_ENST00000347512.3_Silent_p.V63V|RPL36_ENST00000579446.1_Silent_p.V63V|RPL36_ENST00000394580.2_Silent_p.V63V|RPL36_ENST00000579649.1_Silent_p.V63V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	63					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TACTGAAGGTCTCCAAGGACA	0.622											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1																			0				breast(1)|upper_aerodigestive_tract(1)	2						c.(187-189)gtC>gtT		ribosomal protein L36							55.0	60.0	58.0					19																	5691425		2203	4300	6503	SO:0001819	synonymous_variant	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691425C>T		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.189C>T	19.37:g.5691425C>T			OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000579446.1_Silent_p.V63V|RPL36_ENST00000347512.3_Silent_p.V63V|RPL36_ENST00000394580.2_Silent_p.V63V|RPL36_ENST00000579649.1_Silent_p.V63V	p.V63V			Q9Y3U8	RL36_HUMAN			5	733	+			63					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	ENST00000577222.1	37	c.189C>T	CCDS12147.1																																																																																				0.622	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		39	48	0	0	0	1	0	39	48				
GALNS	2588	broad.mit.edu	37	16	88901741	88901741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:88901741C>T	ENST00000268695.5	-	8	866	c.778G>A	c.(778-780)Gag>Aag	p.E260K	GALNS_ENST00000542788.1_Missense_Mutation_p.E185K	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	260	Catalytic domain.		E -> D (in MPS4A). {ECO:0000269|PubMed:16287098}.|E -> K. {ECO:0000269|PubMed:24726177}.		carbohydrate metabolic process (GO:0005975)|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-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TCATCAATCTCCCGGACGGCG	0.552																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(778-780)Gag>Aag		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						126.0	92.0	104.0					16																	88901741		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88901741C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.778G>A	16.37:g.88901741C>T	ENSP00000268695:p.Glu260Lys					GALNS_ENST00000542788.1_Missense_Mutation_p.E185K	p.E260K	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	8	866	-			260		E -> D (in MPS4A).			Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.778G>A	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274315	0.95459	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.98835	-5.17;-5.17	5.14	5.14	0.70334	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77004	0.989;0.989	D	0.98985	1.0806	10	0.87932	D	0	.	18.592	0.91217	0.0:1.0:0.0:0.0	.	260;260	B2R6P1;P34059	.;GALNS_HUMAN	K	260;185	ENSP00000268695:E260K;ENSP00000438197:E185K	ENSP00000268695:E260K	E	-	1	0	GALNS	87429242	1.000000	0.71417	0.871000	0.34182	0.783000	0.44284	7.300000	0.78841	2.400000	0.81607	0.555000	0.69702	GAG		0.552	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			16	21	0	0	0	1	0	16	21				
ASB17	127247	broad.mit.edu	37	1	76388034	76388034	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:76388034G>A	ENST00000284142.6	-	2	551	c.412C>T	c.(412-414)Cca>Tca	p.P138S		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	138					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTATACTGGTGTGAAAGTT	0.328																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(412-414)Cca>Tca		ankyrin repeat and SOCS box containing 17							51.0	50.0	50.0					1																	76388034		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76388034G>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.412C>T	1.37:g.76388034G>A	ENSP00000284142:p.Pro138Ser						p.P138S	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			2	551	-			138					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.412C>T	CCDS671.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778510	0.49786	.	.	ENSG00000154007	ENST00000284142	T	0.33654	1.4	4.96	4.96	0.65561	Ankyrin repeat-containing domain (1);	0.000000	0.56097	D	0.000040	T	0.35008	0.0917	L	0.27053	0.805	0.31018	N	0.718519	D	0.89917	1.0	D	0.80764	0.994	T	0.20638	-1.0269	10	0.62326	D	0.03	.	14.1195	0.65177	0.0:0.0:1.0:0.0	.	138	Q8WXJ9	ASB17_HUMAN	S	138	ENSP00000284142:P138S	ENSP00000284142:P138S	P	-	1	0	ASB17	76160622	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.130000	0.64745	2.480000	0.83734	0.460000	0.39030	CCA		0.328	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		4	30	0	0	0	1	0	4	30				
PRPS1	5631	broad.mit.edu	37	X	106890850	106890850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:106890850G>A	ENST00000372435.4	+	6	841	c.719G>A	c.(718-720)gGc>gAc	p.G240D	PRPS1_ENST00000543248.1_Missense_Mutation_p.G240D|PRPS1_ENST00000372418.1_Missense_Mutation_p.G140D|PRPS1_ENST00000372428.4_Missense_Mutation_p.G173D	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	240					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						CTCTCAGCTGGCGCCACCAGA	0.443																																						ENST00000372435.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						c.(718-720)gGc>gAc		phosphoribosyl pyrophosphate synthetase 1							125.0	114.0	118.0					X																	106890850		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106890850G>A	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.719G>A	X.37:g.106890850G>A	ENSP00000361512:p.Gly240Asp					PRPS1_ENST00000372418.1_Missense_Mutation_p.G140D|PRPS1_ENST00000372428.4_Missense_Mutation_p.G173D|PRPS1_ENST00000543248.1_Missense_Mutation_p.G240D	p.G240D	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN			6	841	+			240					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.719G>A	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238221	0.79800	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.96168	-3.93;-3.93;-3.93;-1.66	3.76	3.76	0.43208	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.98676	0.9556	H	0.99143	4.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	D	0.99019	1.0817	10	0.87932	D	0	.	14.6655	0.68904	0.0:0.0:1.0:0.0	.	240;240	Q53FW2;P60891	.;PRPS1_HUMAN	D	240;173;240;140	ENSP00000361512:G240D;ENSP00000361505:G173D;ENSP00000443185:G240D;ENSP00000361495:G140D	ENSP00000361495:G140D	G	+	2	0	PRPS1	106777506	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.145000	0.94634	2.118000	0.64928	0.600000	0.82982	GGC		0.443	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			42	81	0	0	0	1	0	42	81				
SPTBN2	6712	broad.mit.edu	37	11	66472425	66472425	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:66472425C>T	ENST00000533211.1	-	15	2653	c.2322G>A	c.(2320-2322)gaG>gaA	p.E774E	SPTBN2_ENST00000529997.1_Silent_p.E774E|SPTBN2_ENST00000309996.2_Silent_p.E774E			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	774			E -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGTGCCCCAGCTCGGGGCTGG	0.667																																						ENST00000533211.1																			0				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						c.(2320-2322)gaG>gaA		spectrin, beta, non-erythrocytic 2							59.0	53.0	55.0					11																	66472425		2200	4294	6494	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472425C>T	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.2322G>A	11.37:g.66472425C>T						SPTBN2_ENST00000529997.1_Silent_p.E774E|SPTBN2_ENST00000309996.2_Silent_p.E774E	p.E774E			O15020	SPTN2_HUMAN			15	2653	-			774		E -> K (in a colorectal cancer sample; somatic mutation).			O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.2322G>A	CCDS8150.1																																																																																				0.667	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		19	38	0	0	0	1	0	19	38				
ZZEF1	23140	broad.mit.edu	37	17	3953085	3953085	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3953085G>A	ENST00000381638.2	-	37	6056	c.5932C>T	c.(5932-5934)Cca>Tca	p.P1978S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1978							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						ACAGTGACTGGTAGGGCCTGA	0.512																																						ENST00000381638.2																			0				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						c.(5932-5934)Cca>Tca		zinc finger, ZZ-type with EF-hand domain 1							115.0	105.0	108.0					17																	3953085		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3953085G>A	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.5932C>T	17.37:g.3953085G>A	ENSP00000371051:p.Pro1978Ser						p.P1978S	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			37	6056	-			1978					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.5932C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	0.951	-0.706339	0.03230	.	.	ENSG00000074755	ENST00000381638	T	0.20200	2.09	5.53	-1.78	0.07957	.	0.744226	0.13374	N	0.392672	T	0.06188	0.0160	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.36939	-0.9727	10	0.11182	T	0.66	0.2568	2.563	0.04777	0.2184:0.3836:0.2794:0.1186	.	1978;1978	O43149-2;O43149	.;ZZEF1_HUMAN	S	1978	ENSP00000371051:P1978S	ENSP00000371051:P1978S	P	-	1	0	ZZEF1	3899834	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.408000	0.07169	-0.398000	0.07679	0.650000	0.86243	CCA		0.512	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		21	50	0	0	0	1	0	21	50				
SULT1A2	6799	broad.mit.edu	37	16	28603374	28603374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28603374C>T	ENST00000395630.1	-	8	1213	c.863G>A	c.(862-864)aGc>aAc	p.S288N	SULT1A2_ENST00000335715.4_Missense_Mutation_p.S288N|SULT1A2_ENST00000533150.1_Missense_Mutation_p.S255N	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	288					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GAAGCTGAGGCTGCAGCCTGC	0.577																																						ENST00000533150.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(763-765)aGc>aAc		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							41.0	34.0	36.0					16																	28603374		2197	4295	6492	SO:0001583	missense	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28603374C>T	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.863G>A	16.37:g.28603374C>T	ENSP00000378992:p.Ser288Asn					SULT1A2_ENST00000395630.1_Missense_Mutation_p.S288N|SULT1A2_ENST00000335715.4_Missense_Mutation_p.S288N	p.S255N			P50226	ST1A2_HUMAN			4	1880	-			288					A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	ENST00000395630.1	37	c.764G>A	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.466314	0.26335	.	.	ENSG00000197165	ENST00000533150;ENST00000335715;ENST00000395630	T;T;T	0.01647	4.71;4.71;4.71	4.58	-0.876	0.10624	.	1.548280	0.03302	N	0.189186	T	0.02083	0.0065	N	0.25380	0.74	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48768	-0.9006	10	0.39692	T	0.17	.	10.287	0.43573	0.0:0.6291:0.0:0.3709	.	288	P50226	ST1A2_HUMAN	N	255;288;288	ENSP00000435271:S255N;ENSP00000338742:S288N;ENSP00000378992:S288N	ENSP00000338742:S288N	S	-	2	0	SULT1A2	28510875	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.231000	0.09069	-0.356000	0.08187	-0.378000	0.06908	AGC		0.577	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		10	22	0	0	0	1	0	10	22				
NEK1	4750	broad.mit.edu	37	4	170476892	170476892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:170476892G>A	ENST00000439128.2	-	17	2181	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	NEK1_ENST00000507142.1_Missense_Mutation_p.S514F|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000510533.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	514					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GGCTTGTTTAGACACCGCCTT	0.408																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1540-1542)tCt>tTt		NIMA-related kinase 1							77.0	77.0	77.0					4																	170476892		1889	4125	6014	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170476892G>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1541C>T	4.37:g.170476892G>A	ENSP00000408020:p.Ser514Phe					NEK1_ENST00000511633.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.S514F|NEK1_ENST00000510533.1_Intron|NEK1_ENST00000512193.1_Intron	p.S514F	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	17	2181	-		Prostate(90;0.00601)|Renal(120;0.0183)	514					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1541C>T	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960617	0.74016	.	.	ENSG00000137601	ENST00000439128;ENST00000507142	T;T	0.70282	-0.43;-0.47	5.58	5.58	0.84498	.	0.128199	0.35936	N	0.002893	T	0.77164	0.4090	L	0.54323	1.7	0.80722	D	1	P;D;P	0.57571	0.874;0.98;0.938	P;P;P	0.56700	0.568;0.804;0.548	T	0.79029	-0.1970	10	0.72032	D	0.01	.	14.4012	0.67047	0.0:0.0:0.8523:0.1477	.	514;514;514	Q96PY6-5;Q96PY6-3;Q96PY6	.;.;NEK1_HUMAN	F	514	ENSP00000408020:S514F;ENSP00000424757:S514F	ENSP00000408020:S514F	S	-	2	0	NEK1	170713467	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.721000	0.54941	2.634000	0.89283	0.591000	0.81541	TCT		0.408	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			22	12	0	0	0	1	0	22	12				
SUOX	6821	broad.mit.edu	37	12	56397464	56397464	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56397464G>A	ENST00000394109.3	+	3	1015	c.291G>A	c.(289-291)gaG>gaA	p.E97E	SUOX_ENST00000266971.3_Silent_p.E97E|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Silent_p.E97E|SUOX_ENST00000548274.1_Silent_p.E97E|SUOX_ENST00000356124.4_Silent_p.E97E			P51687	SUOX_HUMAN	sulfite oxidase	97	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CCAGCCCTGAGACTGGGATCT	0.522																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(289-291)gaG>gaA		sulfite oxidase							78.0	78.0	78.0					12																	56397464		2203	4300	6503	SO:0001819	synonymous_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397464G>A	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.291G>A	12.37:g.56397464G>A						SUOX_ENST00000394115.2_Silent_p.E97E|SUOX_ENST00000548274.1_Silent_p.E97E|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Silent_p.E97E|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Silent_p.E97E	p.E97E			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	1015	+			97			Cytochrome b5 heme-binding.			Silent	SNP	ENST00000394109.3	37	c.291G>A	CCDS8901.2																																																																																				0.522	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		4	66	0	0	0	1	0	4	66				
BAZ1B	9031	broad.mit.edu	37	7	72865312	72865312	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:72865312G>A	ENST00000339594.4	-	14	3783	c.3445C>T	c.(3445-3447)Ctg>Ttg	p.L1149L	BAZ1B_ENST00000404251.1_Silent_p.L1149L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1149					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATTTCTCCAGTGCAGATGCA	0.493																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3445-3447)Ctg>Ttg		bromodomain adjacent to zinc finger domain, 1B							81.0	70.0	74.0					7																	72865312		2203	4300	6503	SO:0001819	synonymous_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72865312G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3445C>T	7.37:g.72865312G>A						BAZ1B_ENST00000404251.1_Silent_p.L1149L	p.L1149L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			14	3783	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1149					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.3445C>T	CCDS5549.1																																																																																				0.493	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		4	69	0	0	0	1	0	4	69				
C2	717	broad.mit.edu	37	6	31903805	31903805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31903805G>A	ENST00000299367.5	+	7	1231	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	C2_ENST00000469372.1_Missense_Mutation_p.V73M|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.V187M|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	319	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TATGACTGAGGTGATCAGCAG	0.502																																						ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(955-957)Gtg>Atg		complement component 2							81.0	72.0	75.0					6																	31903805		1511	2709	4220	SO:0001583	missense	717							g.chr6:31903805G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.955G>A	6.37:g.31903805G>A	ENSP00000299367:p.Val319Met					C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.V187M|C2_ENST00000469372.1_Missense_Mutation_p.V73M|CFB_ENST00000477310.1_Intron	p.V319M	NM_000063.4	NP_000054.2				LUAD - Lung adenocarcinoma(999;0.247)	7	1231	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.955G>A	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023854	0.75390	.	.	ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000299367;ENST00000375493;ENST00000442278	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.55	4.67	0.58626	von Willebrand factor, type A (3);	0.000000	0.33753	N	0.004584	D	0.86590	0.5969	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.985;0.999	D;D;D;D;D	0.76575	0.988;0.964;0.968;0.93;0.981	D	0.87753	0.2593	9	0.87932	D	0	-23.6624	11.9578	0.52991	0.084:0.0:0.916:0.0	.	290;73;187;319;106	B4DV48;B4DQI1;E9PFN7;P06681;E9PDZ0	.;.;.;CO2_HUMAN;.	M	73;106;106;319;4;187	ENSP00000418923:V73M;ENSP00000417482:V106M;ENSP00000299367:V319M;ENSP00000395683:V187M	ENSP00000299367:V319M	V	+	1	0	C2	32011784	1.000000	0.71417	0.925000	0.36789	0.058000	0.15608	2.687000	0.46976	2.609000	0.88269	0.467000	0.42956	GTG		0.502	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			3	43	0	0	0	1	0	3	43				
PRF1	5551	broad.mit.edu	37	10	72358304	72358304	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:72358304G>A	ENST00000441259.1	-	3	1333	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D	PRF1_ENST00000373209.2_Silent_p.D391D	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	391	EGF-like.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						ACTGGCATGGGTCTCGGGGGC	0.677			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1171-1173)gaC>gaT		perforin 1 (pore forming protein)							18.0	21.0	20.0					10																	72358304		2201	4294	6495	SO:0001819	synonymous_variant	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358304G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1173C>T	10.37:g.72358304G>A						PRF1_ENST00000373209.2_Silent_p.D391D	p.D391D	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1333	-			391			EGF-like.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.1173C>T	CCDS7305.1																																																																																				0.677	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		10	13	0	0	0	1	0	10	13				
LRRK1	79705	broad.mit.edu	37	15	101595382	101595382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:101595382G>A	ENST00000388948.3	+	27	4645	c.4286G>A	c.(4285-4287)gGc>gAc	p.G1429D	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.G1426D	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 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)			GGCACTCCTGGCTACCAGGCC	0.587																																						ENST00000284395.5																			0				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						c.(4276-4278)gGc>gAc		leucine-rich repeat kinase 1							57.0	57.0	57.0					15																	101595382		1996	4157	6153	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101595382G>A	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.4286G>A	15.37:g.101595382G>A	ENSP00000373600:p.Gly1429Asp					RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.G1429D	p.G1426D			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		28	4677	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1429			Protein kinase.			Missense_Mutation	SNP	ENST00000388948.3	37	c.4277G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922180	0.92319	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762	T;T	0.64260	-0.09;-0.09	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79890	-0.1612	10	0.87932	D	0	.	18.1639	0.89718	0.0:0.0:1.0:0.0	.	1429	Q38SD2	LRRK1_HUMAN	D	1429;1426;120	ENSP00000373600:G1429D;ENSP00000284395:G1426D	ENSP00000284395:G1426D	G	+	2	0	LRRK1	99412905	1.000000	0.71417	0.985000	0.45067	0.945000	0.59286	9.325000	0.96381	2.347000	0.79759	0.591000	0.81541	GGC		0.587	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		7	58	0	0	0	1	0	7	58				
KRTAP4-4	84616	broad.mit.edu	37	17	39316877	39316877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39316877G>A	ENST00000390661.3	-	1	106	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	23	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGTAGCTGGGACGGCAGCAG	0.632																																						ENST00000390661.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(67-69)Ccc>Tcc		keratin associated protein 4-4							51.0	69.0	63.0					17																	39316877		2201	4300	6501	SO:0001583	missense	84616					keratin filament		g.chr17:39316877G>A	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.67C>T	17.37:g.39316877G>A	ENSP00000375076:p.Pro23Ser						p.P23S	NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	106	-		Breast(137;0.000496)	23			26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.67C>T	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	5.059	0.196611	0.09599	.	.	ENSG00000171396	ENST00000390661	T	0.00603	6.28	3.83	3.83	0.44106	.	1.256930	0.06058	U	0.657813	T	0.00967	0.0032	M	0.65975	2.015	0.09310	N	1	B	0.25563	0.129	B	0.30251	0.113	T	0.54268	-0.8319	10	0.21014	T	0.42	.	7.1773	0.25753	0.1214:0.0:0.8786:0.0	.	23	Q9BYR3	KRA44_HUMAN	S	23	ENSP00000375076:P23S	ENSP00000375076:P23S	P	-	1	0	KRTAP4-4	36570403	0.055000	0.20627	0.747000	0.31113	0.315000	0.28087	0.360000	0.20250	1.960000	0.56953	0.555000	0.69702	CCC		0.632	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			14	105	0	0	0	1	0	14	105				
PPP2R5C	5527	broad.mit.edu	37	14	102348564	102348564	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:102348564G>A	ENST00000334743.5	+	3	409	c.361G>A	c.(361-363)Gag>Aag	p.E121K	PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E121K|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E152K|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E176K|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E121K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E121K	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	121					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATTTGACCCGGAGGAAGATGA	0.483																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(454-456)Gag>Aag		protein phosphatase 2, regulatory subunit B', gamma							68.0	63.0	64.0					14																	102348564		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102348564G>A	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.361G>A	14.37:g.102348564G>A	ENSP00000333905:p.Glu121Lys					PPP2R5C_ENST00000334743.5_Missense_Mutation_p.E121K|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E176K|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E121K|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E121K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E121K	p.E152K	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			5	550	+			121					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.454G>A	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572157	0.96553	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	T;T;T;T;T	0.54279	0.58;0.59;0.58;0.64;0.62	4.67	4.67	0.58626	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	H	0.94847	3.59	0.80722	D	1	P;D;P;D;D;P;D	0.89917	0.928;1.0;0.788;0.989;0.999;0.942;0.996	P;D;P;P;D;P;D	0.69654	0.809;0.965;0.683;0.87;0.964;0.753;0.964	D	0.86723	0.1943	10	0.87932	D	0	-19.4279	17.9549	0.89065	0.0:0.0:1.0:0.0	.	121;152;19;121;121;121;176	B4DI74;F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;.;2A5G_HUMAN;.;.	K	152;176;150;121;19;121;121;121;121	ENSP00000412324:E152K;ENSP00000329009:E176K;ENSP00000450931:E150K;ENSP00000262239:E121K;ENSP00000333905:E121K	ENSP00000329009:E176K	E	+	1	0	PPP2R5C	101418317	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	9.781000	0.99029	2.306000	0.77630	0.650000	0.86243	GAG		0.483	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		11	16	0	0	0	1	0	11	16				
DSG3	1830	broad.mit.edu	37	18	29046646	29046646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:29046646G>A	ENST00000257189.4	+	11	1648	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	522					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGATACACTGGCCCCTATACA	0.428																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1564-1566)gGc>gAc		desmoglein 3							119.0	108.0	112.0					18																	29046646		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29046646G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1565G>A	18.37:g.29046646G>A	ENSP00000257189:p.Gly522Asp						p.G522D	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1648	+			522					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1565G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	8.822	0.937894	0.18206	.	.	ENSG00000134757	ENST00000257189	T	0.61158	0.13	5.73	5.73	0.89815	.	0.000000	0.48286	D	0.000190	T	0.54532	0.1864	L	0.56769	1.78	0.29871	N	0.826816	B	0.20780	0.048	B	0.25884	0.064	T	0.57306	-0.7834	10	0.62326	D	0.03	.	11.2049	0.48762	0.0:0.1365:0.7224:0.1411	.	522	P32926	DSG3_HUMAN	D	522	ENSP00000257189:G522D	ENSP00000257189:G522D	G	+	2	0	DSG3	27300644	0.005000	0.15991	0.911000	0.35937	0.028000	0.11728	0.600000	0.24104	2.718000	0.92993	0.585000	0.79938	GGC		0.428	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		4	112	0	0	0	1	0	4	112				
LTA4H	4048	broad.mit.edu	37	12	96422893	96422893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:96422893C>T	ENST00000228740.2	-	2	371	c.230G>A	c.(229-231)gGa>gAa	p.G77E	RP11-256L6.2_ENST00000547346.1_RNA|LTA4H_ENST00000552789.1_Missense_Mutation_p.G53E|LTA4H_ENST00000413268.2_Missense_Mutation_p.G53E	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	77					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TTGTCTTTCTCCAAGAGCATA	0.313																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(229-231)gGa>gAa		leukotriene A4 hydrolase							173.0	165.0	168.0					12																	96422893		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96422893C>T	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.230G>A	12.37:g.96422893C>T	ENSP00000228740:p.Gly77Glu					LTA4H_ENST00000552789.1_Missense_Mutation_p.G53E|LTA4H_ENST00000413268.2_Missense_Mutation_p.G53E	p.G77E	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			2	371	-			77					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.230G>A	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822385	0.71028	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.02197	4.4;4.4;4.4	5.55	5.55	0.83447	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.048055	0.85682	D	0.000000	T	0.06645	0.0170	L	0.45744	1.44	0.80722	D	1	D;P;B	0.63880	0.993;0.683;0.431	P;B;B	0.55011	0.766;0.182;0.113	T	0.55915	-0.8065	10	0.18276	T	0.48	-18.8593	19.5111	0.95141	0.0:1.0:0.0:0.0	.	53;53;77	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	E	77;53;53	ENSP00000228740:G77E;ENSP00000449958:G53E;ENSP00000395051:G53E	ENSP00000228740:G77E	G	-	2	0	LTA4H	94947024	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.620000	0.74224	2.621000	0.88768	0.561000	0.74099	GGA		0.313	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		4	78	0	0	0	1	0	4	78				
MYLK	4638	broad.mit.edu	37	3	123420294	123420294	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:123420294G>A	ENST00000475616.1	-	14	2452	c.2453C>T	c.(2452-2454)gCc>gTc	p.A818V	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.A818V|MYLK_ENST00000360772.3_Missense_Mutation_p.A818V|MYLK_ENST00000360304.3_Missense_Mutation_p.A818V|MYLK_ENST00000346322.5_Missense_Mutation_p.A749V			Q15746	MYLK_HUMAN	myosin light chain kinase	818	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCGTGGAAGGGCTCTGGCAGA	0.602																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2452-2454)gCc>gTc		myosin light chain kinase							64.0	69.0	68.0					3																	123420294		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123420294G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2453C>T	3.37:g.123420294G>A	ENSP00000418335:p.Ala818Val					MYLK_ENST00000359169.1_Missense_Mutation_p.A818V|MYLK_ENST00000475616.1_Missense_Mutation_p.A818V|MYLK_ENST00000360304.3_Missense_Mutation_p.A818V|MYLK_ENST00000346322.5_Missense_Mutation_p.A749V	p.A818V			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	18	2831	-		Lung NSC(201;0.0496)	818			Ig-like C2-type 6.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.2453C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185104	0.06340	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67698	-0.28;-0.24;-0.28;-0.22;-0.24	5.02	1.14	0.20703	.	.	.	.	.	T	0.50667	0.1629	L	0.35644	1.08	0.09310	N	0.999999	B;B;B;B;B	0.21071	0.019;0.024;0.009;0.051;0.005	B;B;B;B;B	0.16722	0.009;0.016;0.015;0.015;0.004	T	0.38929	-0.9638	9	0.42905	T	0.14	.	4.0005	0.09577	0.4474:0.0:0.3946:0.158	.	818;749;818;749;818	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	V	818;818;818;749;818	ENSP00000354004:A818V;ENSP00000353452:A818V;ENSP00000352088:A818V;ENSP00000320622:A749V;ENSP00000418335:A818V	ENSP00000320622:A749V	A	-	2	0	MYLK	124902984	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.021000	0.12504	0.030000	0.15379	0.456000	0.33151	GCC		0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		21	29	0	0	0	1	0	21	29				
ATG101	60673	broad.mit.edu	37	12	52470728	52470728	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:52470728G>A	ENST00000336854.4	+	4	889	c.411G>A	c.(409-411)cgG>cgA	p.R137R	RP11-1100L3.7_ENST00000550301.1_RNA|OR7E47P_ENST00000546390.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		137					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		AGCAGGAGCGGCAGATCTGCC	0.562																																						ENST00000336854.4																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(409-411)cgG>cgA		chromosome 12 open reading frame 44							125.0	95.0	105.0					12																	52470728		2203	4300	6503	SO:0001819	synonymous_variant	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470728G>A																												ENST00000336854.4:c.411G>A	12.37:g.52470728G>A						RP11-1100L3.7_ENST00000550301.1_RNA	p.R137R	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	4	889	+			137					Q9HAE2|Q9HBN1	Silent	SNP	ENST00000336854.4	37	c.411G>A	CCDS8820.1																																																																																				0.562	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			19	32	0	0	0	1	0	19	32				
ZNF628	89887	broad.mit.edu	37	19	55994188	55994188	+	Missense_Mutation	SNP	G	G	A	rs372959006		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55994188G>A	ENST00000598519.1	+	3	2181	c.1628G>A	c.(1627-1629)tGt>tAt	p.C543Y	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.C539Y|NAT14_ENST00000591590.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	543					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TGCGGGGAGTGTGGCAAGGCC	0.682																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(1615-1617)tGt>tAt		zinc finger protein 628			TYR/CYS	1,4405		0,1,2202	31.0	34.0	33.0		1616	4.1	1.0	19		33	0,8596		0,0,4298	no	missense	ZNF628	NM_033113.2	194	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	539/1056	55994188	1,13001	2203	4298	6501	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994188G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1628G>A	19.37:g.55994188G>A	ENSP00000469591:p.Cys543Tyr					ZNF628_ENST00000598519.1_Missense_Mutation_p.C543Y	p.C539Y			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2181	+	Breast(117;0.155)		539					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.1616G>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	17.38	3.373880	0.61624	2.27E-4	0.0	ENSG00000197483	ENST00000391718	D	0.85861	-2.04	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	U	0.000185	D	0.94456	0.8216	H	0.96333	3.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95894	0.8909	10	0.87932	D	0	-0.576	13.8968	0.63778	0.0:0.0:1.0:0.0	.	539	Q5EBL2	ZN628_HUMAN	Y	539	ENSP00000375598:C539Y	ENSP00000375598:C539Y	C	+	2	0	ZNF628	60686000	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	7.217000	0.77982	2.134000	0.65973	0.556000	0.70494	TGT		0.682	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		19	28	0	0	0	1	0	19	28				
FAM179A	165186	broad.mit.edu	37	2	29274887	29274887	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:29274887C>T	ENST00000379558.4	+	20	3339	c.2988C>T	c.(2986-2988)cgC>cgT	p.R996R	FAM179A_ENST00000403861.2_Silent_p.R941R|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	996										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGCAGCCGCAAGGCCACTG	0.552																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2986-2988)cgC>cgT		family with sequence similarity 179, member A							23.0	25.0	24.0					2																	29274887		1904	4126	6030	SO:0001819	synonymous_variant	165186						binding	g.chr2:29274887C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2988C>T	2.37:g.29274887C>T						FAM179A_ENST00000403861.2_Silent_p.R941R|FAM179A_ENST00000465300.1_3'UTR	p.R996R	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			20	3339	+			996					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.2988C>T	CCDS1769.2																																																																																				0.552	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		7	13	0	0	0	1	0	7	13				
P2RX7	5027	broad.mit.edu	37	12	121614951	121614951	+	Splice_Site	SNP	G	G	A	rs199558656		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:121614951G>A	ENST00000546057.1	+	10	1117	c.974G>A	c.(973-975)gGa>gAa	p.G325E	P2RX7_ENST00000535250.1_Splice_Site_p.G235E|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Splice_Site_p.G155E|P2RX7_ENST00000377162.2_Splice_Site_p.G236E|P2RX7_ENST00000541446.1_Splice_Site_p.G36E	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	325					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTTTTTAGGGAGGAAAATTT	0.448																																						ENST00000328963.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.e9-1		purinergic receptor P2X, ligand-gated ion channel, 7							138.0	121.0	127.0					12																	121614951		2203	4300	6503	SO:0001630	splice_region_variant	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121614951G>A	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.973-1G>A	12.37:g.121614951G>A						P2RX7_ENST00000377162.2_Splice_Site_p.G236_splice|P2RX7_ENST00000541446.1_Splice_Site_p.G36_splice|P2RX7_ENST00000546057.1_Splice_Site_p.G325_splice|P2RX7_ENST00000535250.1_Splice_Site_p.G235_splice|P2RX7_ENST00000443520.3_3'UTR	p.G155_splice			A8K2Z0	A8K2Z0_HUMAN			9	918	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		325					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Splice_Site	SNP	ENST00000546057.1	37	c.462_splice	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283468	0.80803	.	.	ENSG00000089041	ENST00000546057;ENST00000377162;ENST00000328963;ENST00000535250;ENST00000541446	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	5.93	5.93	0.95920	.	0.111419	0.39909	N	0.001221	T	0.30572	0.0769	M	0.85373	2.75	0.42964	D	0.994419	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;1.0;0.998;0.997	T	0.01844	-1.1262	10	0.87932	D	0	.	17.0527	0.86524	0.0:0.0:1.0:0.0	.	155;36;235;325	F8W951;F5H6P2;F5H7E8;Q99572	.;.;.;P2RX7_HUMAN	E	325;236;155;235;36	ENSP00000442349:G325E;ENSP00000366367:G236E;ENSP00000330696:G155E;ENSP00000442572:G235E;ENSP00000437471:G36E	ENSP00000330696:G155E	G	+	2	0	P2RX7	120099334	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.034000	0.49751	2.818000	0.97014	0.591000	0.81541	GGA		0.448	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562	Missense_Mutation	6	77	0	0	0	1	0	6	77				
ERI3	79033	broad.mit.edu	37	1	44804980	44804980	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:44804980C>T	ENST00000372257.2	-	3	407	c.226G>A	c.(226-228)Gga>Aga	p.G76R	ERI3_ENST00000537474.1_Intron|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	76							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATTGAACATCCAGAAGCATCT	0.373																																						ENST00000372257.2																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(226-228)Gga>Aga		ERI1 exoribonuclease family member 3							82.0	89.0	86.0					1																	44804980		2203	4300	6503	SO:0001583	missense	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44804980C>T	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.226G>A	1.37:g.44804980C>T	ENSP00000361331:p.Gly76Arg					ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	p.G76R	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN			3	407	-			76					B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	37	c.226G>A	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239770	0.39598	.	.	ENSG00000117419	ENST00000372257;ENST00000457571	.	.	.	6.17	5.21	0.72293	.	0.070349	0.56097	D	0.000033	T	0.40272	0.1110	N	0.14661	0.345	0.80722	D	1	B;B	0.14805	0.011;0.002	B;B	0.17433	0.018;0.003	T	0.31336	-0.9947	9	0.72032	D	0.01	.	10.6385	0.45579	0.1338:0.7985:0.0:0.0677	.	74;76	F6UGJ8;O43414	.;ERI3_HUMAN	R	76;74	.	ENSP00000361331:G76R	G	-	1	0	ERI3	44577567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.521000	0.45563	2.941000	0.99782	0.655000	0.94253	GGA		0.373	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		36	106	0	0	0	1	0	36	106				
UHRF1BP1L	23074	broad.mit.edu	37	12	100536378	100536378	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:100536378G>A	ENST00000279907.7	-	1	248	c.36C>T	c.(34-36)caC>caT	p.H12H	UHRF1BP1L_ENST00000356828.3_Silent_p.H12H|RP11-175P13.2_ENST00000550886.1_RNA	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	12										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACCTGGAGAGGTGCTTCAAGA	0.672																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(34-36)caC>caT		UHRF1 binding protein 1-like							67.0	57.0	61.0					12																	100536378		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100536378G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.36C>T	12.37:g.100536378G>A						UHRF1BP1L_ENST00000356828.3_Silent_p.H12H	p.H12H	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			1	248	-			12					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.36C>T	CCDS31882.1																																																																																				0.672	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		4	7	0	0	0	1	0	4	7				
GCK	2645	broad.mit.edu	37	7	44191896	44191896	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44191896C>T	ENST00000403799.3	-	3	806	c.337G>A	c.(337-339)Gac>Aac	p.D113N	GCK_ENST00000437084.1_Missense_Mutation_p.D113N|GCK_ENST00000476008.1_5'Flank|GCK_ENST00000345378.2_Missense_Mutation_p.D114N|GCK_ENST00000395796.3_Missense_Mutation_p.D112N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	113	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GTCATGGCGTCCTCGGGGATG	0.637																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(337-339)Gac>Aac		glucokinase (hexokinase 4)							271.0	227.0	242.0					7																	44191896		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44191896C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.337G>A	7.37:g.44191896C>T	ENSP00000384247:p.Asp113Asn					GCK_ENST00000395796.3_Missense_Mutation_p.D112N|GCK_ENST00000437084.1_Missense_Mutation_p.D113N|GCK_ENST00000345378.2_Missense_Mutation_p.D114N	p.D113N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			3	806	-			113					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.337G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474272	0.84640	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	4.67	4.67	0.58626	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	L	0.36672	1.1	0.80722	D	1	D;B;D	0.76494	0.999;0.016;0.999	D;B;D	0.79784	0.993;0.006;0.989	D	0.98763	1.0725	10	0.27785	T	0.31	-51.9254	17.556	0.87889	0.0:1.0:0.0:0.0	.	113;114;112	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	N	113;112;114;113	ENSP00000384247:D113N;ENSP00000379142:D112N;ENSP00000223366:D114N;ENSP00000402840:D113N	ENSP00000223366:D114N	D	-	1	0	GCK	44158421	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.768000	0.85345	2.302000	0.77476	0.655000	0.94253	GAC		0.637	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			33	101	0	0	0	1	0	33	101				
SEPHS2	22928	broad.mit.edu	37	16	30456040	30456040	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30456040C>T	ENST00000478753.2	-	1	1462	c.1009G>A	c.(1009-1011)Gtg>Atg	p.V337M	SEPHS2_ENST00000500504.2_Missense_Mutation_p.V337M|SEPHS2_ENST00000542752.1_Missense_Mutation_p.V280M			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	337					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACAAAGGACACTTCATTTCTT	0.458																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1009-1011)Gtg>Atg		selenophosphate synthetase 2							87.0	80.0	82.0					16																	30456040		1911	4133	6044	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456040C>T	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1009G>A	16.37:g.30456040C>T	ENSP00000418669:p.Val337Met					SEPHS2_ENST00000542752.1_Missense_Mutation_p.V280M|SEPHS2_ENST00000500504.2_Missense_Mutation_p.V337M	p.V337M			Q99611	SPS2_HUMAN			1	1462	-			337					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.1009G>A		.	.	.	.	.	.	.	.	.	.	C	19.09	3.760507	0.69763	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.19394	2.15;2.15;2.15	4.75	4.75	0.60458	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	M	0.81179	2.53	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.75020	0.985;0.968	T	0.51426	-0.8707	10	0.62326	D	0.03	-25.6127	15.6591	0.77169	0.0:1.0:0.0:0.0	.	337;280	Q99611;F5H8F9	SPS2_HUMAN;.	M	337;280;288;337	ENSP00000418669:V337M;ENSP00000443601:V280M;ENSP00000426234:V337M	ENSP00000390233:V288M	V	-	1	0	SEPHS2	30363541	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.578000	0.82498	2.652000	0.90054	0.655000	0.94253	GTG		0.458	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		8	116	0	0	0	1	0	8	116				
TEKT2	27285	broad.mit.edu	37	1	36550890	36550890	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36550890G>A	ENST00000207457.3	+	3	409		c.e3+1		RP4-665N4.4_ENST00000446354.1_RNA	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)						cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTGACACAGGCAGGGATCCA	0.582																																						ENST00000207457.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13						c.e3+1		tektin 2 (testicular)							76.0	77.0	77.0					1																	36550890		2203	4300	6503	SO:0001630	splice_region_variant	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36550890G>A	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.282+1G>A	1.37:g.36550890G>A								NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN			3	409	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						A6NIS6|O60638	Splice_Site	SNP	ENST00000207457.3	37		CCDS401.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217822	0.58560	.	.	ENSG00000092850	ENST00000207457	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEKT2	36323477	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	7.311000	0.78958	2.793000	0.96121	0.655000	0.94253	.		0.582	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466	Intron	18	47	0	0	0	1	0	18	47				
RCE1	9986	broad.mit.edu	37	11	66613435	66613435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:66613435G>A	ENST00000309657.3	+	8	903	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	RCE1_ENST00000524506.1_Missense_Mutation_p.G266S|PC_ENST00000528224.1_5'Flank|RCE1_ENST00000525356.1_Missense_Mutation_p.G164S	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	287					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTGCTGGCAGGCTATGCCCT	0.622																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(859-861)Ggc>Agc		Ras converting CAAX endopeptidase 1							88.0	87.0	87.0					11																	66613435		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66613435G>A	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.859G>A	11.37:g.66613435G>A	ENSP00000309163:p.Gly287Ser					RCE1_ENST00000525356.1_Missense_Mutation_p.G164S|RCE1_ENST00000524506.1_Missense_Mutation_p.G266S	p.G287S	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			8	903	+			287					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.859G>A	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649613	0.29336	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	5.24	4.32	0.51571	.	0.513989	0.19806	N	0.105659	T	0.17662	0.0424	N	0.03608	-0.345	0.31124	N	0.708496	B	0.02656	0.0	B	0.01281	0.0	T	0.09952	-1.0651	9	0.22109	T	0.4	-16.0657	7.1244	0.25463	0.0889:0.0:0.7429:0.1681	.	287	Q9Y256	FACE2_HUMAN	S	287;266;164	.	ENSP00000309163:G287S	G	+	1	0	RCE1	66370011	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.546000	0.53656	2.445000	0.82738	0.655000	0.94253	GGC		0.622	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		38	82	0	0	0	1	0	38	82				
LCN12	286256	broad.mit.edu	37	9	139846894	139846894	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139846894G>A	ENST00000371633.3	+	1	114		c.e1+1			NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	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)		AGGAAACCAGGTACAGGGGTT	0.647																																						ENST00000371633.3																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.e1+1		lipocalin 12							18.0	21.0	20.0					9																	139846894		1926	4116	6042	SO:0001630	splice_region_variant	286256				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139846894G>A	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.114+1G>A	9.37:g.139846894G>A								NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	1	114	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)						A2AMJ7	Splice_Site	SNP	ENST00000371633.3	37		CCDS7018.2	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472144	0.63737	.	.	ENSG00000184925	ENST00000371633	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2264	0.48886	0.0:0.1871:0.8129:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LCN12	138966715	0.696000	0.27757	0.929000	0.37066	0.765000	0.43378	0.792000	0.26929	2.071000	0.62044	0.561000	0.74099	.		0.647	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536	Intron	6	14	0	0	0	1	0	6	14				
STAC2	342667	broad.mit.edu	37	17	37369329	37369329	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:37369329C>T	ENST00000333461.5	-	10	1419	c.1050G>A	c.(1048-1050)agG>agA	p.R350R		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	350	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCTCGCCTGGCCTCACCCGTT	0.602																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(1048-1050)agG>agA		SH3 and cysteine rich domain 2							64.0	65.0	64.0					17																	37369329		2203	4300	6503	SO:0001819	synonymous_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37369329C>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1050G>A	17.37:g.37369329C>T							p.R350R	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			10	1419	-			350			SH3.		Q32MA3	Silent	SNP	ENST00000333461.5	37	c.1050G>A	CCDS11335.1																																																																																				0.602	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		33	38	0	0	0	1	0	33	38				
FAM172A	83989	broad.mit.edu	37	5	93217220	93217220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:93217220G>A	ENST00000395965.3	-	7	884	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	FAM172A_ENST00000505869.1_Missense_Mutation_p.R138C|FAM172A_ENST00000509739.1_Missense_Mutation_p.R101C|FAM172A_ENST00000509163.1_Missense_Mutation_p.R202C	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	248						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGGGGGTTACGATACTTCTCA	0.328																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(742-744)Cgt>Tgt		family with sequence similarity 172, member A							192.0	185.0	187.0					5																	93217220		2203	4299	6502	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:93217220G>A		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.742C>T	5.37:g.93217220G>A	ENSP00000379294:p.Arg248Cys					FAM172A_ENST00000509163.1_Missense_Mutation_p.R202C|FAM172A_ENST00000505869.1_Missense_Mutation_p.R138C|FAM172A_ENST00000509739.1_Missense_Mutation_p.R101C	p.R248C	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			7	884	-			248					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.742C>T	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560494	0.86335	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.63	4.63	0.57726	.	0.048402	0.85682	D	0.000000	T	0.37999	0.1024	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.85130	0.996;0.996;0.858;0.997	T	0.15407	-1.0438	10	0.49607	T	0.09	-10.2193	17.8276	0.88671	0.0:0.0:1.0:0.0	.	101;138;248;248	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	C	248;138;101;202	ENSP00000379294:R248C;ENSP00000426284:R138C;ENSP00000421834:R101C;ENSP00000423841:R202C	ENSP00000379294:R248C	R	-	1	0	FAM172A	93242976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.534000	0.73833	2.273000	0.75805	0.650000	0.86243	CGT		0.328	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		54	57	0	0	0	1	0	54	57				
DPH7	92715	broad.mit.edu	37	9	140449968	140449968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140449968C>T	ENST00000277540.2	-	9	1239	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	361					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												CGTCTTGGTTCCTAGGTTGCT	0.597																																						ENST00000277540.2																			0											c.(1081-1083)gGa>gAa		diphthamide biosynthesis 7							97.0	91.0	93.0					9																	140449968		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140449968C>T	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.1082G>A	9.37:g.140449968C>T	ENSP00000277540:p.Gly361Glu					DPH7_ENST00000479650.1_5'UTR	p.G361E	NM_138778.2	NP_620133.1					9	1239	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.1082G>A	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102639	0.20632	.	.	ENSG00000148399	ENST00000277540	T	0.65732	-0.17	5.54	1.65	0.23941	.	0.628159	0.15808	N	0.243653	T	0.42832	0.1220	L	0.42245	1.32	0.09310	N	1	B	0.19200	0.034	B	0.17098	0.017	T	0.32052	-0.9921	10	0.02654	T	1	.	4.5353	0.12026	0.0:0.4403:0.1565:0.4032	.	361	Q9BTV6	WDR85_HUMAN	E	361	ENSP00000277540:G361E	ENSP00000277540:G361E	G	-	2	0	WDR85	139569789	0.000000	0.05858	0.034000	0.17996	0.011000	0.07611	0.250000	0.18235	0.395000	0.25257	0.655000	0.94253	GGA		0.597	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		4	76	0	0	0	1	0	4	76				
RNF145	153830	broad.mit.edu	37	5	158585880	158585880	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:158585880G>A	ENST00000424310.2	-	11	2149	c.1790C>T	c.(1789-1791)gCt>gTt	p.A597V	RNF145_ENST00000274542.2_Missense_Mutation_p.A625V|RNF145_ENST00000519865.1_Missense_Mutation_p.A597V|RNF145_ENST00000518802.1_Missense_Mutation_p.A627V|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000520638.1_Missense_Mutation_p.A611V|RNF145_ENST00000521606.2_Missense_Mutation_p.A614V	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	597						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCAGCTCCAGCATGAGGCTG	0.532																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1789-1791)gCt>gTt		ring finger protein 145							71.0	67.0	68.0					5																	158585880		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158585880G>A	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1790C>T	5.37:g.158585880G>A	ENSP00000409064:p.Ala597Val					RNF145_ENST00000519865.1_Missense_Mutation_p.A597V|RNF145_ENST00000520638.1_Missense_Mutation_p.A611V|RNF145_ENST00000518802.1_Missense_Mutation_p.A627V|RNF145_ENST00000274542.2_Missense_Mutation_p.A625V|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.A614V	p.A597V	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	2149	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	597					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.1790C>T	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584018	0.46110	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.78816	-1.21;-1.2;-1.2;-1.2;-1.21;-1.21;-1.21	4.9	4.9	0.64082	.	0.775342	0.12548	N	0.459305	T	0.75004	0.3791	L	0.48642	1.525	0.54753	D	0.999984	B;B;B;B;B	0.20988	0.012;0.005;0.03;0.001;0.05	B;B;B;B;B	0.21151	0.005;0.006;0.014;0.001;0.033	T	0.68603	-0.5365	10	0.39692	T	0.17	-5.4235	18.1107	0.89534	0.0:0.0:1.0:0.0	.	614;611;627;597;625	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	V	625;597;597;613;614;627;597;611	ENSP00000274542:A625V;ENSP00000430397:A597V;ENSP00000409064:A597V;ENSP00000430753:A613V;ENSP00000445115:A614V;ENSP00000430955:A627V;ENSP00000429071:A611V	ENSP00000274542:A625V	A	-	2	0	RNF145	158518458	0.981000	0.34729	0.575000	0.28536	0.894000	0.52154	3.781000	0.55394	2.272000	0.75746	0.655000	0.94253	GCT		0.532	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		6	70	0	0	0	1	0	6	70				
LUZP1	7798	broad.mit.edu	37	1	23420497	23420497	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:23420497C>T	ENST00000302291.4	-	4	1059	c.258G>A	c.(256-258)gaG>gaA	p.E86E	LUZP1_ENST00000418342.1_Silent_p.E86E|LUZP1_ENST00000374623.3_Silent_p.E86E|LUZP1_ENST00000314174.5_Silent_p.E86E			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	86					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GACACAGATCCTCTGCTCTCT	0.498																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(256-258)gaG>gaA		leucine zipper protein 1							152.0	163.0	159.0					1																	23420497		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23420497C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.258G>A	1.37:g.23420497C>T						LUZP1_ENST00000314174.5_Silent_p.E86E|LUZP1_ENST00000418342.1_Silent_p.E86E|LUZP1_ENST00000374623.3_Silent_p.E86E	p.E86E			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1059	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	86					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.258G>A	CCDS30628.1																																																																																				0.498	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		12	129	0	0	0	1	0	12	129				
OTOP1	133060	broad.mit.edu	37	4	4198969	4198969	+	Missense_Mutation	SNP	G	G	A	rs566824701		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:4198969G>A	ENST00000296358.4	-	5	1616	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	531					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAAGAAACGGGGAAGGCGGAC	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18110	0.0		0.0	False		,,,				2504	0.0					ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1591-1593)cCc>cTc		otopetrin 1							55.0	60.0	58.0					4																	4198969		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4198969G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1592C>T	4.37:g.4198969G>A	ENSP00000296358:p.Pro531Leu						p.P531L	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1616	-			531					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1592C>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	0.779	-0.762836	0.02996	.	.	ENSG00000163982	ENST00000296358	T	0.07908	3.15	4.7	1.92	0.25849	.	2.415450	0.01268	N	0.009379	T	0.07007	0.0178	N	0.22421	0.69	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.39333	-0.9619	10	0.09843	T	0.71	4.7216	8.9616	0.35851	0.2492:0.0:0.7508:0.0	.	531	Q7RTM1	OTOP1_HUMAN	L	531	ENSP00000296358:P531L	ENSP00000296358:P531L	P	-	2	0	OTOP1	4249870	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	1.075000	0.30716	0.499000	0.27970	-0.362000	0.07510	CCC		0.512	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		10	61	0	0	0	1	0	10	61				
CHRNB2	1141	broad.mit.edu	37	1	154543683	154543683	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:154543683G>A	ENST00000368476.3	+	5	648	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	128					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GCATGTACGAGGTGTCCTTCT	0.547																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(382-384)gaG>gaA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						144.0	132.0	136.0					1																	154543683		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154543683G>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.384G>A	1.37:g.154543683G>A							p.E128E	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	648	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		128					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.384G>A	CCDS1070.1																																																																																				0.547	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		34	61	0	0	0	1	0	34	61				
MCM7	4176	broad.mit.edu	37	7	99695476	99695476	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99695476C>T	ENST00000303887.5	-	8	1611	c.966G>A	c.(964-966)gaG>gaA	p.E322E	MCM7_ENST00000354230.3_Silent_p.E146E|MCM7_ENST00000343023.6_Silent_p.E322E	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	322					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCAGCTCCTCCCTGGTGA	0.502																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(964-966)gaG>gaA		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						130.0	121.0	124.0					7																	99695476		2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99695476C>T		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.966G>A	7.37:g.99695476C>T						MCM7_ENST00000343023.6_Silent_p.E322E|MCM7_ENST00000354230.3_Silent_p.E146E	p.E322E	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			8	1611	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		322					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.966G>A	CCDS5683.1																																																																																				0.502	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			4	145	0	0	0	1	0	4	145				
STRN3	29966	broad.mit.edu	37	14	31382837	31382837	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:31382837C>T	ENST00000357479.5	-	10	1463	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R	STRN3_ENST00000355683.5_Missense_Mutation_p.G339R|STRN3_ENST00000366206.2_Intron	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	423					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|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)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GACTTGCCTCCTCCAGATGGA	0.378																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1015-1017)Gga>Aga		striatin, calmodulin binding protein 3							143.0	142.0	142.0					14																	31382837		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31382837C>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1267G>A	14.37:g.31382837C>T	ENSP00000350071:p.Gly423Arg					STRN3_ENST00000357479.5_Missense_Mutation_p.G423R|STRN3_ENST00000366206.2_Intron	p.G339R	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	8	1230	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		337					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.1015G>A	CCDS41938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.58|18.58	3.654547|3.654547	0.67472|0.67472	.|.	.|.	ENSG00000196792|ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000554991|ENST00000556577	T;T|.	0.61627|.	0.09;2.31|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.100851|.	0.64402|.	D|.	0.000002|.	T|T	0.61223|0.61223	0.2330|0.2330	L|L	0.44542|0.44542	1.39|1.39	0.50171|0.50171	D|D	0.999851|0.999851	D;P|.	0.53462|.	0.96;0.745|.	P;B|.	0.53006|.	0.715;0.169|.	T|T	0.56226|0.56226	-0.8014|-0.8014	10|5	0.18276|.	T|.	0.48|.	-18.5544|-18.5544	14.78|14.78	0.69760|0.69760	0.1442:0.8557:0.0:0.0|0.1442:0.8557:0.0:0.0	.|.	339;423|.	Q13033-2;Q13033|.	.;STRN3_HUMAN|.	R|K	339;423;104|136	ENSP00000347909:G339R;ENSP00000350071:G423R|.	ENSP00000347909:G339R|.	G|R	-|-	1|2	0|0	STRN3|STRN3	30452588|30452588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.355000|3.355000	0.52262|0.52262	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.378	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		22	152	0	0	0	1	0	22	152				
CCDC66	285331	broad.mit.edu	37	3	56627130	56627130	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:56627130G>A	ENST00000394672.3	+	8	1138		c.e8+1		CCDC66_ENST00000326595.7_Splice_Site|CCDC66_ENST00000436465.2_Splice_Site	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATATTCAAAGGTAACTTATGA	0.279																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.e8+1		coiled-coil domain containing 66							29.0	34.0	33.0					3																	56627130		2181	4295	6476	SO:0001630	splice_region_variant	285331							g.chr3:56627130G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1068+1G>A	3.37:g.56627130G>A						CCDC66_ENST00000436465.2_Splice_Site|CCDC66_ENST00000326595.7_Splice_Site		NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	8	1138	+								B3KWL8|Q4VC34|Q8N949	Splice_Site	SNP	ENST00000394672.3	37		CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938781	0.73557	.	.	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	.	.	.	5.82	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0834	0.59127	0.075:0.0:0.925:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC66	56602170	1.000000	0.71417	0.995000	0.50966	0.653000	0.38743	4.295000	0.59049	1.459000	0.47892	0.655000	0.94253	.		0.279	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	Intron	4	32	0	0	0	1	0	4	32				
SNAPC2	6618	broad.mit.edu	37	19	7987191	7987191	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:7987191C>T	ENST00000221573.6	+	4	695	c.644C>T	c.(643-645)tCt>tTt	p.S215F	SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	215					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TACTTGTCCTCTGTCTCCCGA	0.597																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(643-645)tCt>tTt		small nuclear RNA activating complex, polypeptide 2, 45kDa							73.0	74.0	74.0					19																	7987191		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987191C>T	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.644C>T	19.37:g.7987191C>T	ENSP00000221573:p.Ser215Phe					SNAPC2_ENST00000597584.1_5'UTR	p.S215F	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			4	695	+			215					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.644C>T	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	c	8.574	0.880752	0.17467	.	.	ENSG00000104976	ENST00000221573	T	0.45668	0.89	4.55	-0.687	0.11320	.	1.612550	0.03239	N	0.180051	T	0.36303	0.0962	L	0.42245	1.32	0.09310	N	1	B	0.25235	0.121	B	0.30105	0.111	T	0.29671	-1.0004	10	0.40728	T	0.16	-10.5475	5.1811	0.15160	0.0:0.459:0.3546:0.1864	.	215	Q13487	SNPC2_HUMAN	F	215	ENSP00000221573:S215F	ENSP00000221573:S215F	S	+	2	0	SNAPC2	7893191	0.000000	0.05858	0.010000	0.14722	0.340000	0.28889	-0.014000	0.12656	0.148000	0.19059	0.450000	0.29827	TCT		0.597	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		11	91	0	0	0	1	0	11	91				
ADAMTSL3	57188	broad.mit.edu	37	15	84561634	84561634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:84561634G>A	ENST00000286744.5	+	13	1685	c.1461G>A	c.(1459-1461)tgG>tgA	p.W487*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.W487*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	487	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W487F(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCATGGAGTGGTCTCAGGTAA	0.408																																						ENST00000286744.5																			1	Substitution - Missense(1)	p.W487F(1)	lung(1)	NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1459-1461)tgG>tgA		ADAMTS-like 3							97.0	86.0	90.0					15																	84561634		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84561634G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1461G>A	15.37:g.84561634G>A	ENSP00000286744:p.Trp487*					ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.W487*	p.W487*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1685	+			487			TSP type-1 3.		A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.1461G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	41	8.701249	0.98920	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9292	0.92558	0.0:0.0:1.0:0.0	.	.	.	.	X	487	.	ENSP00000286744:W487X	W	+	3	0	ADAMTSL3	82352638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.398000	0.97281	2.461000	0.83175	0.655000	0.94253	TGG		0.408	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		8	42	0	0	0	1	0	8	42				
DIDO1	11083	broad.mit.edu	37	20	61525455	61525455	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:61525455G>A	ENST00000266070.4	-	12	2989	c.2664C>T	c.(2662-2664)gaC>gaT	p.D888D	DIDO1_ENST00000395343.1_Silent_p.D888D|DIDO1_ENST00000395335.2_Silent_p.D888D|DIDO1_ENST00000395340.1_Silent_p.D888D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	888					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGCAGAGCTGTCATGCTTTG	0.502																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2662-2664)gaC>gaT		death inducer-obliterator 1							109.0	120.0	116.0					20																	61525455		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525455G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2664C>T	20.37:g.61525455G>A						DIDO1_ENST00000395340.1_Silent_p.D888D|DIDO1_ENST00000395343.1_Silent_p.D888D|DIDO1_ENST00000395335.2_Silent_p.D888D	p.D888D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	2989	-	Breast(26;5.68e-08)		888					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2664C>T	CCDS33506.1																																																																																				0.502	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		10	147	0	0	0	1	0	10	147				
DNAJC22	79962	broad.mit.edu	37	12	49742908	49742908	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:49742908G>A	ENST00000549441.2	+	3	1457	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	DNAJC22_ENST00000395069.3_Missense_Mutation_p.V85M			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	85						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TGCTGCCCAGGTGATAGTTGG	0.557																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(253-255)Gtg>Atg		DnaJ (Hsp40) homolog, subfamily C, member 22							143.0	151.0	148.0					12																	49742908		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49742908G>A	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.253G>A	12.37:g.49742908G>A	ENSP00000446830:p.Val85Met					DNAJC22_ENST00000395069.3_Missense_Mutation_p.V85M	p.V85M			Q8N4W6	DJC22_HUMAN			3	1457	+			85					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.253G>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	1.183	-0.637576	0.03557	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.48201	0.82;0.82	4.99	1.29	0.21616	.	0.398005	0.31624	N	0.007336	T	0.15305	0.0369	N	0.01003	-1.06	0.34287	D	0.682824	B	0.10296	0.003	B	0.06405	0.002	T	0.17410	-1.0370	10	0.13853	T	0.58	-0.2433	8.6219	0.33866	0.5613:0.0:0.4387:0.0	.	85	Q8N4W6	DJC22_HUMAN	M	85	ENSP00000446830:V85M;ENSP00000378508:V85M	ENSP00000378508:V85M	V	+	1	0	DNAJC22	48029175	0.998000	0.40836	0.977000	0.42913	0.226000	0.24999	0.515000	0.22801	0.032000	0.15435	-0.367000	0.07326	GTG		0.557	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		8	166	0	0	0	1	0	8	166				
HERC1	8925	broad.mit.edu	37	15	63970050	63970050	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:63970050G>A	ENST00000443617.2	-	37	7151	c.7064C>T	c.(7063-7065)aCt>aTt	p.T2355I	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2355					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATACCTGATAGTAATTTCTGC	0.453																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(7063-7065)aCt>aTt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							165.0	168.0	167.0					15																	63970050		2054	4201	6255	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970050G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7064C>T	15.37:g.63970050G>A	ENSP00000390158:p.Thr2355Ile					RP11-317G6.1_ENST00000559303.2_RNA	p.T2355I	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			37	7151	-			2355					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.7064C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062239	0.93846	.	.	ENSG00000103657	ENST00000443617	T	0.29655	1.56	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	L	0.50333	1.59	0.80722	D	1	D	0.58620	0.983	P	0.53401	0.725	T	0.34527	-0.9825	10	0.87932	D	0	.	20.0628	0.97684	0.0:0.0:1.0:0.0	.	2355	Q15751	HERC1_HUMAN	I	2355	ENSP00000390158:T2355I	ENSP00000390158:T2355I	T	-	2	0	HERC1	61757103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.745000	0.94114	0.655000	0.94253	ACT		0.453	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		5	170	0	0	0	1	0	5	170				
DCST1	149095	broad.mit.edu	37	1	155015286	155015286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155015286C>T	ENST00000295542.1	+	9	1064	c.968C>T	c.(967-969)tCt>tTt	p.S323F	DCST1_ENST00000392480.1_Missense_Mutation_p.S323F|DCST1_ENST00000423025.2_Missense_Mutation_p.S298F|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000368419.2_Missense_Mutation_p.S323F	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	323						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTCAACCAGTCTATTCGTGGC	0.567																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(967-969)tCt>tTt		DC-STAMP domain containing 1							109.0	94.0	99.0					1																	155015286		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155015286C>T	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.968C>T	1.37:g.155015286C>T	ENSP00000295542:p.Ser323Phe					DCST1_ENST00000392480.1_Missense_Mutation_p.S323F|DCST1_ENST00000423025.2_Missense_Mutation_p.S298F|DCST1_ENST00000368419.2_Missense_Mutation_p.S323F	p.S323F	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		9	1064	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		323					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.968C>T	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805666	0.70682	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.26373	1.78;1.74;1.8;1.74	4.77	4.77	0.60923	.	0.394849	0.25030	N	0.033684	T	0.34483	0.0899	M	0.73598	2.24	0.49213	D	0.999765	D;D;D	0.61697	0.981;0.99;0.981	P;P;P	0.57776	0.819;0.827;0.819	T	0.04427	-1.0952	10	0.27785	T	0.31	-16.0023	15.3389	0.74282	0.0:1.0:0.0:0.0	.	298;348;323	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	F	323;323;298;323	ENSP00000295542:S323F;ENSP00000376271:S323F;ENSP00000387369:S298F;ENSP00000357404:S323F	ENSP00000295542:S323F	S	+	2	0	DCST1	153281910	0.999000	0.42202	0.930000	0.37139	0.532000	0.34746	5.409000	0.66374	2.476000	0.83614	0.557000	0.71058	TCT		0.567	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		5	60	0	0	0	1	0	5	60				
DLEC1	9940	broad.mit.edu	37	3	38158041	38158041	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:38158041C>T	ENST00000308059.6	+	28	3975	c.3954C>T	c.(3952-3954)gaC>gaT	p.D1318D	DLEC1_ENST00000346219.3_Silent_p.D1318D|DLEC1_ENST00000452631.2_Silent_p.D1321D					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGCTGCGGGACCAAGCCGGGA	0.592																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3952-3954)gaC>gaT		deleted in lung and esophageal cancer 1							60.0	63.0	62.0					3																	38158041		2001	4156	6157	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158041C>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3954C>T	3.37:g.38158041C>T						DLEC1_ENST00000452631.2_Silent_p.D1321D|DLEC1_ENST00000346219.3_Silent_p.D1318D	p.D1318D			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	3975	+			1318						Silent	SNP	ENST00000308059.6	37	c.3954C>T	CCDS2672.2																																																																																				0.592	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		6	91	0	0	0	1	0	6	91				
FKBP9	11328	broad.mit.edu	37	7	33044850	33044850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:33044850G>A	ENST00000242209.4	+	10	1769	c.1600G>A	c.(1600-1602)Gct>Act	p.A534T	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.A396T|FKBP9_ENST00000490776.2_Missense_Mutation_p.A302T|FKBP9_ENST00000538336.1_Missense_Mutation_p.A587T	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	534	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGGCTTTGATGCTGAGCTGAT	0.493																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1600-1602)Gct>Act		FK506 binding protein 9, 63 kDa							87.0	71.0	77.0					7																	33044850		2203	4297	6500	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33044850G>A	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1600G>A	7.37:g.33044850G>A	ENSP00000242209:p.Ala534Thr					FKBP9_ENST00000538336.1_Missense_Mutation_p.A587T|FKBP9_ENST00000538443.1_Missense_Mutation_p.A396T|FKBP9_ENST00000490776.2_Missense_Mutation_p.A302T|AVL9_ENST00000404479.1_Intron	p.A534T	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		10	1769	+			534			EF-hand 2.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.1600G>A	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738706	0.15642	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.54279	0.58;0.58;0.58;2.29	5.07	4.19	0.49359	EF-hand-like domain (1);	0.293683	0.38005	N	0.001842	T	0.32376	0.0827	N	0.24115	0.695	0.22292	N	0.999223	B;P;B	0.40578	0.22;0.722;0.263	B;B;B	0.36719	0.036;0.231;0.071	T	0.25710	-1.0124	10	0.56958	D	0.05	-9.9032	4.1573	0.10266	0.0858:0.1286:0.5872:0.1985	.	302;587;534	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	T	534;587;396;302	ENSP00000242209:A534T;ENSP00000439250:A587T;ENSP00000437504:A396T;ENSP00000441317:A302T	ENSP00000242209:A534T	A	+	1	0	FKBP9	33011375	0.674000	0.27549	0.979000	0.43373	0.412000	0.31113	0.718000	0.25866	1.139000	0.42245	0.555000	0.69702	GCT		0.493	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		5	109	0	0	0	1	0	5	109				
MACF1	23499	broad.mit.edu	37	1	39853963	39853963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39853963G>A	ENST00000372915.3	+	57	15551	c.15464G>A	c.(15463-15465)aGa>aAa	p.R5155K	MACF1_ENST00000545844.1_Missense_Mutation_p.R3088K|MACF1_ENST00000539005.1_Missense_Mutation_p.R3067K|MACF1_ENST00000567887.1_Missense_Mutation_p.R5187K|MACF1_ENST00000564288.1_Missense_Mutation_p.R5150K|MACF1_ENST00000317713.7_Missense_Mutation_p.R3088K|MACF1_ENST00000289893.4_Missense_Mutation_p.R3590K|MACF1_ENST00000361689.2_Missense_Mutation_p.R3088K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5155					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)			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)			GCTATTGGCAGAGACACTGAT	0.502																																						ENST00000564288.1																			0				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						c.(15448-15450)aGa>aAa		microtubule-actin crosslinking factor 1							98.0	87.0	91.0					1																	39853963		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853963G>A	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.15464G>A	1.37:g.39853963G>A	ENSP00000362006:p.Arg5155Lys					MACF1_ENST00000361689.2_Missense_Mutation_p.R3088K|MACF1_ENST00000317713.7_Missense_Mutation_p.R3088K|MACF1_ENST00000289893.4_Missense_Mutation_p.R3590K|MACF1_ENST00000567887.1_Missense_Mutation_p.R5187K|MACF1_ENST00000539005.1_Missense_Mutation_p.R3067K|MACF1_ENST00000545844.1_Missense_Mutation_p.R3088K|MACF1_ENST00000372915.3_Missense_Mutation_p.R5155K	p.R5150K			Q9UPN3	MACF1_HUMAN	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)		58	16226	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5155					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.15449G>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.972961	0.74246	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.72394	-0.48;-0.65;-0.48;-0.52;-0.47;0.58	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	D	0.83995	0.5375	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.77004	0.989;0.968;0.985	T	0.82713	-0.0321	10	0.45353	T	0.12	.	19.9756	0.97304	0.0:0.0:1.0:0.0	.	5155;3088;3032	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	K	3088;5155;3088;3088;3067;3590	ENSP00000439537:R3088K;ENSP00000362006:R5155K;ENSP00000354573:R3088K;ENSP00000313438:R3088K;ENSP00000444364:R3067K;ENSP00000289893:R3590K	ENSP00000289893:R3590K	R	+	2	0	MACF1	39626550	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.477000	0.73591	2.793000	0.96121	0.563000	0.77884	AGA		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	37	0	0	0	1	0	12	37				
CTAGE1	64693	broad.mit.edu	37	18	19995842	19995842	+	5'Flank	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:19995842G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.P645S			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GATGAATCAGGCACCTTTAAA	0.403																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1933-1935)Cct>Tct		cutaneous T-cell lymphoma-associated antigen 1							122.0	135.0	131.0					18																	19995842		2202	4299	6501	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995842G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995842G>A	Exception_encountered						p.P645S	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	2036	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		645					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1933C>T		.	.	.	.	.	.	.	.	.	.	G	12.22	1.871974	0.33069	.	.	ENSG00000212710	ENST00000391403	T	0.09911	2.93	0.614	0.614	0.17603	.	.	.	.	.	T	0.29652	0.0740	M	0.80982	2.52	0.31627	N	0.649548	D	0.69078	0.997	D	0.71870	0.975	T	0.29761	-1.0001	7	.	.	.	.	.	.	.	.	645	Q96RT6	CTGE2_HUMAN	S	645	ENSP00000375220:P645S	.	P	-	1	0	CTAGE1	18249840	0.987000	0.35691	0.681000	0.30009	0.260000	0.26232	0.122000	0.15687	0.581000	0.29539	0.298000	0.19748	CCT		0.403	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		67	159	0	0	0	1	0	67	159				
ARHGEF3	50650	broad.mit.edu	37	3	56766345	56766345	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:56766345G>A	ENST00000296315.3	-	9	1317	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	ARHGEF3_ENST00000496106.1_Silent_p.D389D|ARHGEF3_ENST00000497267.1_Silent_p.D354D|ARHGEF3_ENST00000413728.2_Silent_p.D389D|ARHGEF3_ENST00000338458.4_Silent_p.D415D|ARHGEF3_ENST00000495373.1_Silent_p.D383D	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	383	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CCAGCAGGAGGTCTTTCACGG	0.542																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(1165-1167)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 3							140.0	129.0	133.0					3																	56766345		2203	4300	6503	SO:0001819	synonymous_variant	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56766345G>A	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1149C>T	3.37:g.56766345G>A						ARHGEF3_ENST00000338458.4_Silent_p.D415D|ARHGEF3_ENST00000495373.1_Silent_p.D383D|ARHGEF3_ENST00000496106.1_Silent_p.D389D|ARHGEF3_ENST00000497267.1_Silent_p.D354D|ARHGEF3_ENST00000296315.3_Silent_p.D383D	p.D389D	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	9	1710	-			383			PH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Silent	SNP	ENST00000296315.3	37	c.1167C>T	CCDS2878.1																																																																																				0.542	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		8	89	0	0	0	1	0	8	89				
CCNE2	9134	broad.mit.edu	37	8	95897712	95897712	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:95897712C>T	ENST00000520509.1	-	8	927	c.675G>A	c.(673-675)agG>agA	p.R225R	CCNE2_ENST00000308108.4_Silent_p.R225R|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Silent_p.R225R|RP11-347C18.5_ENST00000605911.1_RNA			O96020	CCNE2_HUMAN	cyclin E2	225					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TGAGTTCCATCCTTAAGATAT	0.299																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(673-675)agG>agA		cyclin E2							58.0	60.0	59.0					8																	95897712		2203	4296	6499	SO:0001819	synonymous_variant	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95897712C>T	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.675G>A	8.37:g.95897712C>T						CCNE2_ENST00000396133.3_Silent_p.R225R|CCNE2_ENST00000308108.4_Silent_p.R225R|CCNE2_ENST00000523476.1_5'UTR	p.R225R			O96020	CCNE2_HUMAN			8	927	-	Breast(36;8.75e-07)		225					O95439	Silent	SNP	ENST00000520509.1	37	c.675G>A	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141504	0.21205	.	.	ENSG00000175305	ENST00000524224	.	.	.	5.45	4.58	0.56647	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56811	-0.7917	4	.	.	.	.	8.6593	0.34081	0.0:0.7179:0.0:0.2821	.	.	.	.	E	89	.	.	G	-	2	0	CCNE2	95966888	0.016000	0.18221	1.000000	0.80357	0.994000	0.84299	0.145000	0.16157	1.282000	0.44496	0.655000	0.94253	GGA		0.299	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		45	89	0	0	0	1	0	45	89				
MIS18BP1	55320	broad.mit.edu	37	14	45696976	45696976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45696976C>T	ENST00000310806.4	-	9	2094	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	546					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATGTTTAATTCTGTAGCTCCT	0.348																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(1636-1638)Gaa>Aaa		MIS18 binding protein 1							175.0	171.0	172.0					14																	45696976		2203	4299	6502	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45696976C>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1636G>A	14.37:g.45696976C>T	ENSP00000309790:p.Glu546Lys						p.E546K	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			9	2094	-			546					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.1636G>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	7.545	0.661588	0.14645	.	.	ENSG00000129534	ENST00000310806	T	0.19532	2.14	4.18	2.34	0.29019	.	0.507855	0.18342	N	0.144145	T	0.12433	0.0302	N	0.21448	0.665	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.20009	-1.0288	10	0.42905	T	0.14	-2.8141	6.6177	0.22786	0.0:0.776:0.0:0.224	.	546	Q6P0N0	M18BP_HUMAN	K	546	ENSP00000309790:E546K	ENSP00000309790:E546K	E	-	1	0	MIS18BP1	44766726	0.527000	0.26306	0.003000	0.11579	0.226000	0.24999	0.252000	0.18278	0.508000	0.28173	0.561000	0.74099	GAA		0.348	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			35	41	0	0	0	1	0	35	41				
DUOX1	53905	broad.mit.edu	37	15	45457038	45457038	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:45457038C>T	ENST00000321429.4	+	35	5002	c.4595C>T	c.(4594-4596)gCc>gTc	p.A1532V	DUOX1_ENST00000561166.1_Missense_Mutation_p.A1178V|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.A1532V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1532					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)			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)		GTGGAAAAGGCCTGTCAGCTC	0.567																																						ENST00000321429.4																			0				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						c.(4594-4596)gCc>gTc		dual oxidase 1							185.0	178.0	180.0					15																	45457038		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45457038C>T	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.4595C>T	15.37:g.45457038C>T	ENSP00000317997:p.Ala1532Val					DUOX1_ENST00000389037.3_Missense_Mutation_p.A1532V|DUOX1_ENST00000561166.1_Missense_Mutation_p.A1178V|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.A1532V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	35	5002	+		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)	1532					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4595C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048136	0.93740	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95001	-3.58;-3.58	4.32	4.32	0.51571	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.97198	0.9084	M	0.88310	2.945	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.96858	0.9630	10	0.38643	T	0.18	-23.813	14.3496	0.66691	0.0:1.0:0.0:0.0	.	1532	Q9NRD9	DUOX1_HUMAN	V	1532	ENSP00000317997:A1532V;ENSP00000373689:A1532V	ENSP00000317997:A1532V	A	+	2	0	DUOX1	43244330	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.613000	0.82986	2.226000	0.72624	0.561000	0.74099	GCC		0.567	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		53	110	0	0	0	1	0	53	110				
ALDH1L2	160428	broad.mit.edu	37	12	105443820	105443820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:105443820C>T	ENST00000258494.9	-	13	1692	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K		NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	518	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TGGTTCTCTTCCAGTAGGTCT	0.433																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(1552-1554)Gaa>Aaa		aldehyde dehydrogenase 1 family, member L2							94.0	78.0	83.0					12																	105443820		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105443820C>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1552G>A	12.37:g.105443820C>T	ENSP00000258494:p.Glu518Lys						p.E518K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			13	1692	-			518			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.1552G>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865655	0.91511	.	.	ENSG00000136010	ENST00000258494	T	0.78126	-1.15	5.81	5.81	0.92471	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.81682	2.555	0.80722	D	1	P	0.35077	0.483	B	0.33392	0.163	T	0.82309	-0.0521	10	0.87932	D	0	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	518	Q3SY69	AL1L2_HUMAN	K	518	ENSP00000258494:E518K	ENSP00000258494:E518K	E	-	1	0	ALDH1L2	103967950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.731000	0.84895	2.756000	0.94617	0.655000	0.94253	GAA		0.433	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		4	54	0	0	0	1	0	4	54				
COL22A1	169044	broad.mit.edu	37	8	139820045	139820045	+	Missense_Mutation	SNP	C	C	T	rs267601793		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:139820045C>T	ENST00000303045.6	-	10	1906	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G487E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	487	Collagen-like 1.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCAGCAACTCCCATTTCACC	0.443										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1459-1461)gGa>gAa		collagen, type XXII, alpha 1							112.0	116.0	115.0					8																	139820045		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139820045C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1460G>A	8.37:g.139820045C>T	ENSP00000303153:p.Gly487Glu	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G487E	p.G487E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		10	1906	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		487			Collagen-like 1.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1460G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636991	0.47049	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.94184	-3.37;-3.37	4.61	4.61	0.57282	.	0.000000	0.46758	U	0.000262	D	0.96537	0.8870	H	0.96833	3.89	0.38814	D	0.955498	D	0.60160	0.987	P	0.50352	0.638	D	0.98256	1.0496	9	.	.	.	.	13.7328	0.62799	0.0:1.0:0.0:0.0	.	487	Q8NFW1	COMA1_HUMAN	E	487	ENSP00000303153:G487E;ENSP00000387655:G487E	.	G	-	2	0	COL22A1	139889227	0.715000	0.27946	0.317000	0.25265	0.125000	0.20455	3.700000	0.54786	2.520000	0.84964	0.644000	0.83932	GGA		0.443	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		16	38	0	0	0	1	0	16	38				
ZNF502	91392	broad.mit.edu	37	3	44762550	44762550	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:44762550G>A	ENST00000296091.4	+	4	497	c.241G>A	c.(241-243)Gga>Aga	p.G81R	ZNF502_ENST00000436624.2_Missense_Mutation_p.G81R|ZNF502_ENST00000449836.1_Missense_Mutation_p.G81R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TTTCCAGGAAGGAGGTTTTGG	0.393																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(241-243)Gga>Aga		zinc finger protein 502							66.0	67.0	66.0					3																	44762550		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762550G>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.241G>A	3.37:g.44762550G>A	ENSP00000296091:p.Gly81Arg					ZNF502_ENST00000436624.2_Missense_Mutation_p.G81R|ZNF502_ENST00000449836.1_Missense_Mutation_p.G81R	p.G81R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	497	+			81						Missense_Mutation	SNP	ENST00000296091.4	37	c.241G>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795918	0.31777	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.64260	3.4;3.4;3.4;-0.09	4.83	3.87	0.44632	.	.	.	.	.	T	0.36963	0.0986	N	0.08118	0	0.28233	N	0.926037	B	0.10296	0.003	B	0.14023	0.01	T	0.12451	-1.0547	9	0.23302	T	0.38	-7.6503	5.7137	0.17948	0.211:0.0:0.789:0.0	.	81	Q8TBZ5	ZN502_HUMAN	R	81	ENSP00000397390:G81R;ENSP00000296091:G81R;ENSP00000406469:G81R;ENSP00000401717:G81R	ENSP00000296091:G81R	G	+	1	0	ZNF502	44737554	0.000000	0.05858	0.657000	0.29651	0.708000	0.40852	0.279000	0.18771	2.528000	0.85240	0.655000	0.94253	GGA		0.393	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		4	88	0	0	0	1	0	4	88				
RHOBTB2	23221	broad.mit.edu	37	8	22874800	22874800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:22874800C>T	ENST00000251822.6	+	10	2539	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.P690S|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.P675S	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	668					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCGGTGGCCACCTGTGTGGTA	0.572																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(2002-2004)Cct>Tct		Rho-related BTB domain containing 2							126.0	103.0	111.0					8																	22874800		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22874800C>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.2002C>T	8.37:g.22874800C>T	ENSP00000251822:p.Pro668Ser					RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.P690S|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.P675S	p.P668S	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	10	2539	+		Prostate(55;0.0513)|Breast(100;0.214)	668					A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.2002C>T	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.553548	0.86127	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.22945	1.93;1.96;1.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.49551	-0.8928	10	0.87932	D	0	.	18.3077	0.90188	0.0:1.0:0.0:0.0	.	675;668;690	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	S	690;675;668	ENSP00000427926:P690S;ENSP00000429141:P675S;ENSP00000251822:P668S	ENSP00000251822:P668S	P	+	1	0	RHOBTB2	22930745	1.000000	0.71417	0.408000	0.26446	0.682000	0.39822	7.806000	0.86020	2.669000	0.90835	0.655000	0.94253	CCT		0.572	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			34	54	0	0	0	1	0	34	54				
ACO1	48	broad.mit.edu	37	9	32424547	32424547	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:32424547G>A	ENST00000309951.6	+	10	1210	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	ACO1_ENST00000379923.1_Splice_Site_p.V358I|ACO1_ENST00000541043.1_Splice_Site_p.V259I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	358					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGGTCAACAGGTTGTGGAATT	0.383																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.e11-1		aconitase 1, soluble							107.0	116.0	113.0					9																	32424547		2203	4300	6503	SO:0001630	splice_region_variant	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32424547G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1072-1G>A	9.37:g.32424547G>A						ACO1_ENST00000309951.5_Splice_Site_p.V358_splice|ACO1_ENST00000541043.1_Splice_Site_p.V259_splice	p.V358_splice	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	11	1278	+			358					D3DRK7|Q14652|Q5VZA7	Splice_Site	SNP	ENST00000309951.6	37	c.1071_splice	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917520	0.33815	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.19250	2.16;2.16;2.16	5.86	2.0	0.26442	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.270323	0.41500	N	0.000863	T	0.18509	0.0444	L	0.55103	1.725	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.002	T	0.06023	-1.0850	9	.	.	.	-9.0754	9.9743	0.41774	0.3496:0.0:0.6504:0.0	.	394;358	Q59FI0;P21399	.;ACOC_HUMAN	I	394;358;358;358;259	ENSP00000309477:V358I;ENSP00000369255:V358I;ENSP00000438733:V259I	.	V	+	1	0	ACO1	32414547	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	3.758000	0.55220	0.501000	0.28013	-0.157000	0.13467	GTT		0.383	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197	Missense_Mutation	22	41	0	0	0	1	0	22	41				
NDUFS3	4722	broad.mit.edu	37	11	47603907	47603907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47603907G>A	ENST00000263774.4	+	6	596	c.514G>A	c.(514-516)Gac>Aac	p.D172N	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	172					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	CTAGATCTGGGACATGTTTGG	0.483																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(514-516)Gac>Aac		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						322.0	325.0	324.0					11																	47603907		2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47603907G>A	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.514G>A	11.37:g.47603907G>A	ENSP00000263774:p.Asp172Asn					NDUFS3_ENST00000533507.1_3'UTR	p.D172N	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			6	596	+			172					B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.514G>A	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	G	36	5.649810	0.96714	.	.	ENSG00000213619	ENST00000263774	D	0.94092	-3.35	5.87	5.87	0.94306	NADH:ubiquinone oxidoreductase, 30kDa subunit (2);NADH:ubiquinone oxidoreductase, 30kDa subunit, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	H	0.99906	4.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.99047	1.0826	10	0.87932	D	0	-17.1578	20.206	0.98277	0.0:0.0:1.0:0.0	.	172;98	O75489;Q9UF24	NDUS3_HUMAN;.	N	172	ENSP00000263774:D172N	ENSP00000263774:D172N	D	+	1	0	NDUFS3	47560483	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.459000	0.97638	2.785000	0.95823	0.655000	0.94253	GAC		0.483	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		87	176	0	0	0	1	0	87	176				
ZNF526	116115	broad.mit.edu	37	19	42729929	42729929	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42729929C>T	ENST00000301215.3	+	3	1599	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCCGGCTGTCCCGGCACCGGC	0.682																																						ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(1372-1374)tcC>tcT		zinc finger protein 526							40.0	42.0	41.0					19																	42729929		2202	4299	6501	SO:0001819	synonymous_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42729929C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1374C>T	19.37:g.42729929C>T							p.S458S	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	1599	+		Prostate(69;0.0704)	458					B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	c.1374C>T	CCDS12598.1																																																																																				0.682	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		4	65	0	0	0	1	0	4	65				
DUT	1854	broad.mit.edu	37	15	48624470	48624470	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:48624470C>T	ENST00000331200.3	+	2	379	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	RP11-154J22.1_ENST00000560323.1_RNA|DUT_ENST00000559935.1_Missense_Mutation_p.P11S|DUT_ENST00000559540.1_Missense_Mutation_p.P8S|RP11-154J22.1_ENST00000559134.1_RNA|DUT_ENST00000558813.1_5'UTR|DUT_ENST00000559416.1_Missense_Mutation_p.P11S|DUT_ENST00000455976.2_Missense_Mutation_p.P8S	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	96					DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TGAAGAGACACCCGCCATTTC	0.716								Modulation of nucleotide pools																														ENST00000331200.3																			0				kidney(2)	2						c.(286-288)Ccc>Tcc	Modulation of nucleotide pools	deoxyuridine triphosphatase																																				SO:0001583	missense	1854				DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding	g.chr15:48624470C>T	M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"""dUTP pyrophosphatase"""			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.286C>T	15.37:g.48624470C>T	ENSP00000370376:p.Pro96Ser					DUT_ENST00000558813.1_5'UTR|DUT_ENST00000559935.1_Missense_Mutation_p.P11S|DUT_ENST00000559416.1_Missense_Mutation_p.P11S|DUT_ENST00000455976.2_Missense_Mutation_p.P8S|DUT_ENST00000559540.1_Missense_Mutation_p.P8S	p.P96S	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)	2	379	+		all_lung(180;0.00265)	96					A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Missense_Mutation	SNP	ENST00000331200.3	37	c.286C>T	CCDS32231.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760412	0.31137	.	.	ENSG00000128951	ENST00000331200;ENST00000249783;ENST00000455976	T;T	0.43688	0.94;1.07	5.2	0.827	0.18835	.	0.917719	0.09245	N	0.828706	T	0.28896	0.0717	L	0.27053	0.805	0.09310	N	1	B;B	0.28378	0.082;0.209	B;B	0.24394	0.053;0.02	T	0.20306	-1.0279	10	0.52906	T	0.07	.	8.9203	0.35607	0.2684:0.4963:0.2352:0.0	.	8;96	P33316-2;P33316	.;DUT_HUMAN	S	96;94;8	ENSP00000370376:P96S;ENSP00000405160:P8S	ENSP00000249783:P94S	P	+	1	0	DUT	46411762	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.005000	0.12855	-0.021000	0.14009	-0.309000	0.09137	CCC		0.716	DUT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417142.2			18	31	0	0	0	1	0	18	31				
AGRN	375790	broad.mit.edu	37	1	978837	978837	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:978837G>A	ENST00000379370.2	+	8	1653	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	535	Kazal-like 5. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGGACCCTGTGGTCAGTGGCG	0.706																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.e8+1		agrin							18.0	23.0	21.0					1																	978837		2191	4292	6483	SO:0001630	splice_region_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:978837G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1603+1G>A	1.37:g.978837G>A							p.D535_splice	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	8	1653	+	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;8.75e-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)	535			Kazal-like 5.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Splice_Site	SNP	ENST00000379370.2	37	c.1603_splice	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506388	0.44558	.	.	ENSG00000188157	ENST00000379370	T	0.75477	-0.94	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000002	T	0.74435	0.3716	L	0.43923	1.385	0.53005	D	0.99996	D	0.53745	0.962	P	0.52109	0.69	T	0.70029	-0.4984	10	0.12103	T	0.63	-35.1085	17.7824	0.88528	0.0:0.0:1.0:0.0	.	535	O00468	AGRIN_HUMAN	N	535	ENSP00000368678:D535N	ENSP00000368678:D535N	D	+	1	0	AGRN	968700	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	3.460000	0.53028	2.195000	0.70347	0.655000	0.94253	GAC		0.706	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	Missense_Mutation	6	11	0	0	0	1	0	6	11				
BTN1A1	696	broad.mit.edu	37	6	26501844	26501844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:26501844G>A	ENST00000244513.6	+	2	172	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	36	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGGACCCCCGGAGCCCATCCT	0.627																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(106-108)Gag>Aag		butyrophilin, subfamily 1, member A1							36.0	37.0	37.0					6																	26501844		2188	4281	6469	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26501844G>A	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.106G>A	6.37:g.26501844G>A	ENSP00000244513:p.Glu36Lys						p.E36K	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			2	172	+			36			Ig-like V-type 1.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.106G>A	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906502	0.33628	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.63417	-0.04	5.87	4.08	0.47627	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.571430	0.17212	N	0.182677	T	0.44705	0.1306	L	0.28556	0.865	0.19945	N	0.999949	D	0.56287	0.975	P	0.55260	0.772	T	0.25152	-1.0140	10	0.33940	T	0.23	.	9.4905	0.38955	0.1676:0.0:0.8324:0.0	.	36	Q13410	BT1A1_HUMAN	K	36	ENSP00000244513:E36K	ENSP00000244513:E36K	E	+	1	0	BTN1A1	26609823	0.234000	0.23783	0.157000	0.22605	0.051000	0.14879	1.093000	0.30939	1.493000	0.48517	-0.140000	0.14226	GAG		0.627	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		4	57	0	0	0	1	0	4	57				
TRNT1	51095	broad.mit.edu	37	3	3188139	3188139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:3188139C>T	ENST00000251607.6	+	6	736	c.634C>T	c.(634-636)Cct>Tct	p.P212S	TRNT1_ENST00000280591.6_Missense_Mutation_p.P212S	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	212					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		TGTAGACAAACCTGGTGACCA	0.368																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(634-636)Cct>Tct		tRNA nucleotidyl transferase, CCA-adding, 1							109.0	110.0	109.0					3																	3188139		2203	4300	6503	SO:0001583	missense	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3188139C>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.634C>T	3.37:g.3188139C>T	ENSP00000251607:p.Pro212Ser					TRNT1_ENST00000280591.6_Missense_Mutation_p.P212S	p.P212S	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	6	736	+			212					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	ENST00000251607.6	37	c.634C>T	CCDS2561.2	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304156	0.40795	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.43294	0.96;0.95	5.32	5.32	0.75619	.	0.101790	0.64402	D	0.000001	T	0.35941	0.0949	L	0.56396	1.775	0.80722	D	1	B;B	0.21225	0.033;0.053	B;B	0.25291	0.059;0.032	T	0.12760	-1.0535	10	0.07813	T	0.8	-15.1734	10.6321	0.45543	0.0:0.8513:0.0:0.1487	.	212;212	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	S	212	ENSP00000251607:P212S;ENSP00000280591:P212S	ENSP00000251607:P212S	P	+	1	0	TRNT1	3163139	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.850000	0.55918	2.498000	0.84270	0.585000	0.79938	CCT		0.368	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			16	13	0	0	0	1	0	16	13				
TPK1	27010	broad.mit.edu	37	7	144462972	144462972	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:144462972C>T	ENST00000360057.3	-	3	218		c.e3+1		TPK1_ENST00000378099.3_Splice_Site	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1						small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTAAGGTTACCTTTGTTCCA	0.323																																					Ovarian(45;88 1034 2073 5829 28455)	ENST00000360057.3																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.e3+1		thiamin pyrophosphokinase 1	Thiamine(DB00152)						95.0	108.0	103.0					7																	144462972		2203	4299	6502	SO:0001630	splice_region_variant	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144462972C>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.115+1G>A	7.37:g.144462972C>T						TPK1_ENST00000378099.3_Splice_Site		NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN			3	218	-								A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Splice_Site	SNP	ENST00000360057.3	37		CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767156	0.69878	.	.	ENSG00000196511	ENST00000360057;ENST00000378099;ENST00000552881	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6673	0.62403	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPK1	144093905	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.499000	0.53310	2.689000	0.91719	0.655000	0.94253	.		0.323	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445	Intron	5	87	0	0	0	1	0	5	87				
BRD4	23476	broad.mit.edu	37	19	15383813	15383813	+	Missense_Mutation	SNP	G	G	A	rs201539391		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:15383813G>A	ENST00000263377.2	-	2	319	c.98C>T	c.(97-99)gCc>gTc	p.A33V	BRD4_ENST00000371835.4_Missense_Mutation_p.A33V|BRD4_ENST00000360016.5_Missense_Mutation_p.A33V	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	33					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTGGGGTTGGGCCTGGGCCTG	0.587			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(97-99)gCc>gTc		bromodomain containing 4							100.0	101.0	100.0					19																	15383813		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15383813G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.98C>T	19.37:g.15383813G>A	ENSP00000263377:p.Ala33Val					BRD4_ENST00000371835.4_Missense_Mutation_p.A33V|BRD4_ENST00000360016.5_Missense_Mutation_p.A33V	p.A33V	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		2	319	-			33					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.98C>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425463	0.83667	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.33438	1.41;4.2;4.2	5.58	5.58	0.84498	.	0.092877	0.47093	D	0.000242	T	0.26593	0.0650	L	0.44542	1.39	0.35817	D	0.824322	B;B;P	0.43477	0.361;0.039;0.808	B;B;B	0.33254	0.154;0.021;0.16	T	0.33317	-0.9873	10	0.42905	T	0.14	-9.947	18.3461	0.90322	0.0:0.0:1.0:0.0	.	33;33;33	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	V	33	ENSP00000263377:A33V;ENSP00000360901:A33V;ENSP00000353112:A33V	ENSP00000263377:A33V	A	-	2	0	BRD4	15244813	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.955000	0.63638	2.638000	0.89438	0.655000	0.94253	GCC		0.587	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		18	103	0	0	0	1	0	18	103				
RTN4IP1	84816	broad.mit.edu	37	6	107076665	107076665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:107076665C>T	ENST00000369063.3	-	1	697	c.232G>A	c.(232-234)Gtt>Att	p.V78I	RTN4IP1_ENST00000539449.1_Missense_Mutation_p.V78I|QRSL1_ENST00000369046.4_5'Flank|QRSL1_ENST00000369044.1_5'Flank	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	78						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GCAGCGTGAACTTTGACAATG	0.343																																						ENST00000539449.1																			0				breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(232-234)Gtt>Att		reticulon 4 interacting protein 1							111.0	102.0	105.0					6																	107076665		2203	4300	6503	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107076665C>T	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.232G>A	6.37:g.107076665C>T	ENSP00000358059:p.Val78Ile					RTN4IP1_ENST00000369063.3_Missense_Mutation_p.V78I	p.V78I			Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	1	708	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	78					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.232G>A	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918627	0.92249	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	T;T	0.05258	3.47;3.47	5.85	5.85	0.93711	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	L	0.37630	1.12	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.81914	0.995;0.861	T	0.22487	-1.0215	10	0.30854	T	0.27	-22.8666	18.9446	0.92616	0.0:1.0:0.0:0.0	.	78;78	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	I	78	ENSP00000444261:V78I;ENSP00000358059:V78I	ENSP00000358059:V78I	V	-	1	0	RTN4IP1	107183358	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.113000	0.77095	2.768000	0.95171	0.655000	0.94253	GTT		0.343	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			20	57	0	0	0	1	0	20	57				
MAGEL2	54551	broad.mit.edu	37	15	23890939	23890939	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:23890939C>T	ENST00000532292.1	-	1	236	c.142G>A	c.(142-144)Gga>Aga	p.G48R		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCGGGGCTCCCTGAAAGGGC	0.701																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(142-144)Gga>Aga		MAGE-like 2							5.0	6.0	6.0					15																	23890939		1764	3877	5641	SO:0001583	missense	54551							g.chr15:23890939C>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.142G>A	15.37:g.23890939C>T	ENSP00000433433:p.Gly48Arg						p.G48R	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	236	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.142G>A																																																																																					0.701	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		7	3	0	0	0	1	0	7	3				
LRP1	4035	broad.mit.edu	37	12	57556226	57556226	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57556226C>T	ENST00000243077.3	+	14	2795	c.2329C>T	c.(2329-2331)Ccc>Tcc	p.P777S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	777					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGCGCACCCCCCACTGTGAC	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2329-2331)Ccc>Tcc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						144.0	118.0	127.0					12																	57556226		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57556226C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2329C>T	12.37:g.57556226C>T	ENSP00000243077:p.Pro777Ser						p.P777S	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	14	2795	+			777					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2329C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	4.239	0.043284	0.08196	.	.	ENSG00000123384	ENST00000243077	D	0.88896	-2.44	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.35585	N	0.003109	T	0.79173	0.4401	N	0.17838	0.53	0.80722	D	1	B	0.17038	0.02	B	0.12156	0.007	T	0.72268	-0.4343	10	0.09338	T	0.73	.	13.7293	0.62779	0.0:1.0:0.0:0.0	.	777	Q07954	LRP1_HUMAN	S	777	ENSP00000243077:P777S	ENSP00000243077:P777S	P	+	1	0	LRP1	55842493	0.397000	0.25270	0.758000	0.31321	0.598000	0.36846	3.179000	0.50887	2.709000	0.92574	0.563000	0.77884	CCC		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		39	71	0	0	0	1	0	39	71				
BBS9	27241	broad.mit.edu	37	7	33296906	33296906	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:33296906G>A	ENST00000242067.6	+	6	1022	c.501G>A	c.(499-501)gaG>gaA	p.E167E	BBS9_ENST00000354265.4_Silent_p.E167E|BBS9_ENST00000396127.2_Silent_p.E167E|BBS9_ENST00000355070.2_Silent_p.E167E|BBS9_ENST00000425508.2_Silent_p.E122E|BBS9_ENST00000350941.3_Silent_p.E167E	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	167					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTGAGCAGGAGAGCTATGCTT	0.413									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(499-501)gaG>gaA		Bardet-Biedl syndrome 9							167.0	159.0	161.0					7																	33296906		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33296906G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.501G>A	7.37:g.33296906G>A						BBS9_ENST00000355070.2_Silent_p.E167E|BBS9_ENST00000396127.2_Silent_p.E167E|BBS9_ENST00000350941.3_Silent_p.E167E|BBS9_ENST00000425508.2_Silent_p.E122E|BBS9_ENST00000354265.4_Silent_p.E167E	p.E167E	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		6	1022	+			167					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.501G>A	CCDS43566.1																																																																																				0.413	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			20	58	0	0	0	1	0	20	58				
PTENP1	11191	broad.mit.edu	37	9	33675524	33675524	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:33675524G>A	ENST00000532280.1	-	0	1973					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TATCTATAATGATCAGGTTCA	0.378																																						ENST00000532280.1																			0																																																			0							g.chr9:33675524G>A	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675524G>A								NR_023917.1						0	1973	-									RNA	SNP	ENST00000532280.1	37																																																																																						0.378	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		31	55	0	0	0	1	0	31	55				
PRDM9	56979	broad.mit.edu	37	5	23522941	23522941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:23522941G>A	ENST00000296682.3	+	8	1011	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	277	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			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						TGGCCCTTATGAGGGCCGAAT	0.552										HNSCC(3;0.000094)																												ENST00000296682.3																			0				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						c.(829-831)Gag>Aag		PR domain containing 9							74.0	75.0	74.0					5																	23522941		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522941G>A	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.829G>A	5.37:g.23522941G>A	ENSP00000296682:p.Glu277Lys	HNSCC(3;0.000094)					p.E277K	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	1011	+			277			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.829G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	g	8.514	0.867088	0.17250	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.60548	0.18	4.14	2.29	0.28610	SET domain (2);	0.208574	0.24010	N	0.042382	T	0.39860	0.1094	L	0.31065	0.9	0.36018	D	0.838566	B	0.06786	0.001	B	0.08055	0.003	T	0.36792	-0.9733	10	0.41790	T	0.15	-13.592	6.2528	0.20856	0.2372:0.0:0.7628:0.0	.	277	Q9NQV7	PRDM9_HUMAN	K	277;71	ENSP00000296682:E277K	ENSP00000253473:E71K	E	+	1	0	PRDM9	23558698	0.996000	0.38824	0.967000	0.41034	0.044000	0.14063	0.761000	0.26489	0.862000	0.35528	-0.181000	0.13052	GAG		0.552	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		9	38	0	0	0	1	0	9	38				
SLC12A2	6558	broad.mit.edu	37	5	127510235	127510235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:127510235G>A	ENST00000262461.2	+	20	2995	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	SLC12A2_ENST00000343225.4_Missense_Mutation_p.E936K	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	936					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GTCTACAGAAGAATTATTGTC	0.294																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2806-2808)Gaa>Aaa		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						39.0	41.0	41.0					5																	127510235		2203	4296	6499	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127510235G>A		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2806G>A	5.37:g.127510235G>A	ENSP00000262461:p.Glu936Lys					SLC12A2_ENST00000343225.4_Missense_Mutation_p.E936K	p.E936K	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	20	2995	+		all_cancers(142;0.0972)|Prostate(80;0.151)	936					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2806G>A	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602474	0.66445	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.85258	-1.96;-1.96	5.4	5.4	0.78164	.	0.208387	0.48286	D	0.000189	D	0.86418	0.5928	M	0.69823	2.125	0.80722	D	1	P;B	0.44044	0.825;0.391	B;B	0.41946	0.371;0.079	D	0.87935	0.2713	10	0.62326	D	0.03	.	18.9794	0.92749	0.0:0.0:1.0:0.0	.	936;936	P55011-3;P55011	.;S12A2_HUMAN	K	936	ENSP00000262461:E936K;ENSP00000340878:E936K	ENSP00000262461:E936K	E	+	1	0	SLC12A2	127538134	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.047000	0.89440	2.805000	0.96524	0.655000	0.94253	GAA		0.294	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		5	34	0	0	0	1	0	5	34				
BLM	641	broad.mit.edu	37	15	91304128	91304128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:91304128C>T	ENST00000355112.3	+	7	1643	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	BLM_ENST00000560509.1_Missense_Mutation_p.P509S	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	509	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GGCTGAAACACCAAGACTAGG	0.373			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1525-1527)Cca>Tca	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							55.0	60.0	58.0					15																	91304128		2198	4297	6495	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91304128C>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1525C>T	15.37:g.91304128C>T	ENSP00000347232:p.Pro509Ser					BLM_ENST00000560509.1_Missense_Mutation_p.P509S	p.P509S	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1643	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		509					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.1525C>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	9.788	1.177043	0.21787	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.40756	1.02	5.83	3.74	0.42951	.	0.188978	0.46145	D	0.000309	T	0.24353	0.0590	N	0.24115	0.695	0.31044	N	0.715931	B;B;B	0.27498	0.18;0.051;0.18	B;B;B	0.24541	0.054;0.016;0.054	T	0.13548	-1.0505	10	0.35671	T	0.21	-1.135	5.7551	0.18168	0.0:0.738:0.0:0.262	.	509;134;509	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	S	509;162	ENSP00000347232:P509S	ENSP00000347232:P509S	P	+	1	0	BLM	89105132	0.868000	0.29978	0.975000	0.42487	0.408000	0.30992	0.847000	0.27696	1.466000	0.48025	0.591000	0.81541	CCA		0.373	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			5	107	0	0	0	1	0	5	107				
ARHGEF12	23365	broad.mit.edu	37	11	120316133	120316133	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:120316133C>T	ENST00000397843.2	+	16	1471	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	ARHGEF12_ENST00000532993.1_Silent_p.H332H|ARHGEF12_ENST00000356641.3_Silent_p.H416H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	435	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATTTTAGCACCTGAAAGTTT	0.373			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(1303-1305)caC>caT		Rho guanine nucleotide exchange factor (GEF) 12							243.0	213.0	223.0					11																	120316133		1872	4105	5977	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120316133C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1305C>T	11.37:g.120316133C>T						ARHGEF12_ENST00000532993.1_Silent_p.H332H|ARHGEF12_ENST00000356641.3_Silent_p.H416H	p.H435H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	16	1471	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	435			RGSL.		O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.1305C>T	CCDS41727.1																																																																																				0.373	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		24	64	0	0	0	1	0	24	64				
PTPRN	5798	broad.mit.edu	37	2	220161542	220161542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220161542C>T	ENST00000295718.2	-	16	2479	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N	PTPRN_ENST00000409251.3_Missense_Mutation_p.D718N|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.D657N|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000497977.1_5'Flank	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	747	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGGCATGGTCATCTGCACAG	0.617																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2239-2241)Gac>Aac		protein tyrosine phosphatase, receptor type, N							107.0	93.0	98.0					2																	220161542		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161542C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2239G>A	2.37:g.220161542C>T	ENSP00000295718:p.Asp747Asn					PTPRN_ENST00000423636.2_Missense_Mutation_p.D657N|PTPRN_ENST00000409251.3_Missense_Mutation_p.D718N	p.D747N	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	16	2479	-		Renal(207;0.0474)	747			Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.2239G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372836	0.82573	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	D;D;D	0.88586	-2.4;-2.4;-2.4	4.24	4.24	0.50183	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.060553	0.64402	D	0.000004	D	0.95146	0.8427	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.995;0.999	D	0.96199	0.9144	10	0.87932	D	0	.	16.4513	0.83991	0.0:1.0:0.0:0.0	.	718;747	Q6NSL1;Q16849	.;PTPRN_HUMAN	N	718;747;718;657	ENSP00000386638:D718N;ENSP00000295718:D747N;ENSP00000444244:D657N	ENSP00000295718:D747N	D	-	1	0	PTPRN	219869786	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.198000	0.77823	2.187000	0.69744	0.563000	0.77884	GAC		0.617	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			4	30	0	0	0	1	0	4	30				
MAPK8IP2	23542	broad.mit.edu	37	22	51048241	51048241	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:51048241G>A	ENST00000008876.5	+	9	1518	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	MAPK8IP2_ENST00000399912.1_Intron|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000399908.2_Intron			Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	0					behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGAGCTGGGCAAGGGGCTG	0.642																																						ENST00000008876.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1516-1518)ggG>ggA		mitogen-activated protein kinase 8 interacting protein 2							17.0	17.0	17.0					22																	51048241		876	1989	2865	SO:0001819	synonymous_variant	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51048241G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000008876.5:c.1518G>A	22.37:g.51048241G>A						MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399908.2_Intron|MAPK8IP2_ENST00000399912.1_Intron	p.G506G			Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	1518	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	0					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Silent	SNP	ENST00000008876.5	37	c.1518G>A																																																																																					0.642	MAPK8IP2-201	KNOWN	basic	protein_coding	protein_coding		NM_012324		4	5	0	0	0	1	0	4	5				
CACNA1E	777	broad.mit.edu	37	1	181480599	181480599	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:181480599C>T	ENST00000367573.2	+	3	465	c.465C>T	c.(463-465)taC>taT	p.Y155Y	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.Y106Y|CACNA1E_ENST00000360108.3_Silent_p.Y155Y|CACNA1E_ENST00000358338.5_Silent_p.Y106Y|CACNA1E_ENST00000526775.1_Silent_p.Y155Y|CACNA1E_ENST00000367570.1_Silent_p.Y155Y	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	155					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGCTCTTACCTCCGCAATG	0.483																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(463-465)taC>taT		calcium channel, voltage-dependent, R type, alpha 1E subunit							212.0	206.0	208.0					1																	181480599		1938	4155	6093	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181480599C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.465C>T	1.37:g.181480599C>T						CACNA1E_ENST00000357570.5_Silent_p.Y106Y|CACNA1E_ENST00000360108.3_Silent_p.Y155Y|CACNA1E_ENST00000367573.2_Silent_p.Y155Y|CACNA1E_ENST00000367570.1_Silent_p.Y155Y|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Silent_p.Y106Y	p.Y155Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			3	630	+			155					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.465C>T	CCDS55664.1																																																																																				0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	133	0	0	0	1	0	4	133				
CCM2	83605	broad.mit.edu	37	7	45103542	45103542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:45103542C>T	ENST00000258781.6	+	3	379	c.230C>T	c.(229-231)cCa>cTa	p.P77L	CCM2_ENST00000475551.1_Missense_Mutation_p.P71L|CCM2_ENST00000541586.1_Missense_Mutation_p.P19L|CCM2_ENST00000544363.1_Missense_Mutation_p.P77L|CCM2_ENST00000381112.3_Missense_Mutation_p.P98L|CCM2_ENST00000474617.1_Missense_Mutation_p.P71L|CCM2_ENST00000461377.1_3'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	77	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ACGTCCATACCAGGATACCTG	0.468																																						ENST00000475551.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(211-213)cCa>cTa		cerebral cavernous malformation 2							170.0	154.0	159.0					7																	45103542		2203	4300	6503	SO:0001583	missense	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45103542C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.230C>T	7.37:g.45103542C>T	ENSP00000258781:p.Pro77Leu					CCM2_ENST00000541586.1_Missense_Mutation_p.P19L|CCM2_ENST00000544363.1_Missense_Mutation_p.P77L|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Missense_Mutation_p.P98L|CCM2_ENST00000474617.1_Missense_Mutation_p.P71L|CCM2_ENST00000258781.6_Missense_Mutation_p.P77L	p.P71L			Q9BSQ5	CCM2_HUMAN			3	972	+			77			PID.		A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	c.212C>T	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673507	0.67928	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.11	5.11	0.69529	Phosphotyrosine interaction domain (1);	0.121926	0.64402	D	0.000020	T	0.63908	0.2551	M	0.69823	2.125	0.80722	D	1	D;P;P;D;P	0.89917	0.992;0.884;0.884;1.0;0.884	D;B;P;D;B	0.91635	0.925;0.422;0.509;0.999;0.422	T	0.67461	-0.5665	10	0.72032	D	0.01	-5.4964	15.2737	0.73726	0.0:1.0:0.0:0.0	.	40;98;77;19;77	B7Z8D5;E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;.;CCM2_HUMAN	L	77;19;77;71;98;71	ENSP00000258781:P77L;ENSP00000444725:P19L;ENSP00000438035:P77L;ENSP00000417180:P71L;ENSP00000370503:P98L;ENSP00000419474:P71L	ENSP00000258781:P77L	P	+	2	0	CCM2	45070067	1.000000	0.71417	0.546000	0.28166	0.990000	0.78478	7.589000	0.82641	2.379000	0.81126	0.655000	0.94253	CCA		0.468	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		26	82	0	0	0	1	0	26	82				
TTC1	7265	broad.mit.edu	37	5	159476549	159476549	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:159476549G>A	ENST00000231238.5	+	6	680	c.570G>A	c.(568-570)agG>agA	p.R190R	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Silent_p.R190R	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	190					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GCTATATCAGGGCAATATTGA	0.348																																						ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(568-570)agG>agA		tetratricopeptide repeat domain 1							65.0	67.0	66.0					5																	159476549		2203	4300	6503	SO:0001819	synonymous_variant	7265				protein folding		unfolded protein binding	g.chr5:159476549G>A	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.570G>A	5.37:g.159476549G>A						TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Silent_p.R190R	p.R190R	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	6	680	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	190					B2RCT2|D3DQJ8|Q9BVT3	Silent	SNP	ENST00000231238.5	37	c.570G>A	CCDS4348.1																																																																																				0.348	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		4	49	0	0	0	1	0	4	49				
ZNF862	643641	broad.mit.edu	37	7	149547376	149547376	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149547376G>A	ENST00000223210.4	+	5	1311	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	356	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCGGCAGAAGGAGCTGTACAG	0.557																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(1066-1068)Gag>Aag		zinc finger protein 862							100.0	111.0	107.0					7																	149547376		2177	4280	6457	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149547376G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1066G>A	7.37:g.149547376G>A	ENSP00000223210:p.Glu356Lys						p.E356K	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			5	1311	+			356			KRAB 2.		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1066G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509353	0.85282	.	.	ENSG00000106479	ENST00000223210	T	0.01767	4.65	5.03	3.18	0.36537	Krueppel-associated box (4);	0.000000	0.52532	D	0.000068	T	0.02970	0.0088	L	0.37561	1.115	0.27379	N	0.955465	P	0.48640	0.913	P	0.51701	0.677	T	0.34079	-0.9843	10	0.87932	D	0	-16.4407	6.2758	0.20979	0.0955:0.0:0.7225:0.182	.	356	O60290	ZN862_HUMAN	K	356	ENSP00000223210:E356K	ENSP00000223210:E356K	E	+	1	0	ZNF862	149178309	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.816000	0.48026	0.500000	0.27991	0.655000	0.94253	GAG		0.557	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		5	40	0	0	0	1	0	5	40				
KRT31	3881	broad.mit.edu	37	17	39550317	39550317	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39550317G>A	ENST00000251645.2	-	7	1254	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	401	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGGGGCACAGGGTGTGCAGGG	0.642																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1201-1203)cCc>cTc		keratin 31							87.0	72.0	77.0					17																	39550317		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39550317G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1202C>T	17.37:g.39550317G>A	ENSP00000251645:p.Pro401Leu						p.P401L	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			7	1254	-		Breast(137;0.000496)	401			Tail.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.1202C>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	19.38	3.817333	0.70912	.	.	ENSG00000094796	ENST00000251645	T	0.81415	-1.49	4.94	4.94	0.65067	.	0.000000	0.52532	D	0.000072	D	0.87803	0.6269	M	0.66506	2.035	0.42683	D	0.99355	D	0.89917	1.0	D	0.80764	0.994	D	0.88952	0.3387	10	0.66056	D	0.02	.	13.6774	0.62462	0.0:0.0:1.0:0.0	.	401	Q15323	K1H1_HUMAN	L	401	ENSP00000251645:P401L	ENSP00000251645:P401L	P	-	2	0	KRT31	36803843	0.984000	0.35163	0.725000	0.30721	0.881000	0.50899	4.580000	0.60942	2.306000	0.77630	0.655000	0.94253	CCC		0.642	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		24	40	0	0	0	1	0	24	40				
MYCBP2	23077	broad.mit.edu	37	13	77818030	77818030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:77818030G>A	ENST00000544440.2	-	16	2341	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.A775V|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A813V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTTGCACAGGCCTTGCAACA	0.388																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2437-2439)gCc>gTc		MYC binding protein 2, E3 ubiquitin protein ligase							115.0	100.0	105.0					13																	77818030		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77818030G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2324C>T	13.37:g.77818030G>A	ENSP00000444596:p.Ala775Val					MYCBP2_ENST00000357337.6_Missense_Mutation_p.A775V|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.A775V	p.A813V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	16	2704	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	775						Missense_Mutation	SNP	ENST00000544440.2	37	c.2438C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.210295	0.95069	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29655	1.56;1.56;1.56	5.57	5.57	0.84162	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.44542	1.39	0.80722	D	1	B	0.26635	0.155	B	0.26693	0.072	T	0.08806	-1.0704	10	0.66056	D	0.02	.	19.5545	0.95338	0.0:0.0:1.0:0.0	.	775	O75592	MYCB2_HUMAN	V	775;813;775	ENSP00000349892:A775V;ENSP00000384288:A813V;ENSP00000444596:A775V	ENSP00000349892:A775V	A	-	2	0	MYCBP2	76716031	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.622000	0.88805	0.655000	0.94253	GCC		0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		8	44	0	0	0	1	0	8	44				
MPZL3	196264	broad.mit.edu	37	11	118106250	118106250	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118106250G>A	ENST00000278949.4	-	4	561	c.506C>T	c.(505-507)cCc>cTc	p.P169L	MPZL3_ENST00000527472.1_Missense_Mutation_p.P157L|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	169					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CACGGCTGAGGGCACAAAGAC	0.512																																						ENST00000278949.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8						c.(505-507)cCc>cTc		myelin protein zero-like 3							124.0	113.0	117.0					11																	118106250		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118106250G>A	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.506C>T	11.37:g.118106250G>A	ENSP00000278949:p.Pro169Leu					MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Missense_Mutation_p.P157L	p.P169L			Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	4	561	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	169					A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.506C>T	CCDS8392.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483161	0.44147	.	.	ENSG00000160588	ENST00000278949;ENST00000527472	D;D	0.95342	-3.49;-3.68	5.87	5.87	0.94306	.	0.059834	0.64402	D	0.000002	D	0.95085	0.8408	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90678	0.4603	10	0.07990	T	0.79	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	157;169	B4E2I8;Q6UWV2	.;MPZL3_HUMAN	L	169;157	ENSP00000278949:P169L;ENSP00000432106:P157L	ENSP00000278949:P169L	P	-	2	0	MPZL3	117611460	1.000000	0.71417	0.999000	0.59377	0.652000	0.38707	6.431000	0.73395	2.941000	0.99782	0.655000	0.94253	CCC		0.512	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		6	110	0	0	0	1	0	6	110				
BRD1	23774	broad.mit.edu	37	22	50171389	50171389	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50171389G>A	ENST00000216267.8	-	8	3023	c.2537C>T	c.(2536-2538)cCc>cTc	p.P846L	BRD1_ENST00000404760.1_Missense_Mutation_p.P977L|BRD1_ENST00000457780.2_Missense_Mutation_p.P950S|BRD1_ENST00000542442.1_Missense_Mutation_p.P534L|BRD1_ENST00000404034.1_Missense_Mutation_p.P846L|BRD1_ENST00000342989.5_Missense_Mutation_p.P572L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	846					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGTCGTCGGGGTGTGGCCTT	0.711																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(2536-2538)cCc>cTc		bromodomain containing 1							28.0	23.0	25.0					22																	50171389		2199	4297	6496	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50171389G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2537C>T	22.37:g.50171389G>A	ENSP00000216267:p.Pro846Leu					BRD1_ENST00000404034.1_Missense_Mutation_p.P846L|BRD1_ENST00000342989.5_Missense_Mutation_p.P572L|BRD1_ENST00000542442.1_Missense_Mutation_p.P534L|BRD1_ENST00000404760.1_Missense_Mutation_p.P977L|BRD1_ENST00000457780.2_Missense_Mutation_p.P950S	p.P846L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	8	3023	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	846					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.2537C>T	CCDS14080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.95|18.95	3.731783|3.731783	0.69189|0.69189	.|.	.|.	ENSG00000100425|ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212|ENST00000457780	T;T;T;T;T|T	0.23950|0.11930	1.88;1.88;1.88;1.88;1.88|2.73	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.35508|0.35508	0.0934|0.0934	M|M	0.79475|0.79475	2.455|2.455	0.37772|0.37772	D|D	0.926693|0.926693	D;D;B;D|.	0.71674|.	0.996;0.99;0.084;0.998|.	P;P;B;P|.	0.61800|.	0.893;0.763;0.07;0.894|.	T|T	0.15578|0.15578	-1.0432|-1.0432	10|8	0.33940|0.33141	T|T	0.23|0.24	.|.	18.8442|18.8442	0.92198|0.92198	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	977;572;846;977|.	Q86X06;B7Z926;O95696;O95696-2|.	.;.;BRD1_HUMAN;.|.	L|S	846;846;977;534;572;437|950	ENSP00000216267:P846L;ENSP00000384076:P846L;ENSP00000385858:P977L;ENSP00000437514:P534L;ENSP00000345886:P572L|ENSP00000410042:P950S	ENSP00000216267:P846L|ENSP00000410042:P950S	P|P	-|-	2|1	0|0	BRD1|BRD1	48557393|48557393	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.467000|0.467000	0.32768|0.32768	9.218000|9.218000	0.95166|0.95166	2.458000|2.458000	0.83093|0.83093	0.558000|0.558000	0.71614|0.71614	CCC|CCC		0.711	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		3	15	0	0	0	1	0	3	15				
PYROXD1	79912	broad.mit.edu	37	12	21608206	21608206	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:21608206G>A	ENST00000240651.9	+	6	683	c.629G>A	c.(628-630)aGa>aAa	p.R210K	PYROXD1_ENST00000538582.1_Missense_Mutation_p.R139K|PYROXD1_ENST00000545178.1_3'UTR	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	210							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GCACATAAAAGAACCAGATAT	0.338																																						ENST00000538582.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.(415-417)aGa>aAa		pyridine nucleotide-disulphide oxidoreductase domain 1							56.0	59.0	58.0					12																	21608206		2203	4300	6503	SO:0001583	missense	79912						oxidoreductase activity	g.chr12:21608206G>A	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.629G>A	12.37:g.21608206G>A	ENSP00000240651:p.Arg210Lys					PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Missense_Mutation_p.R210K	p.R139K			Q8WU10	PYRD1_HUMAN			6	1169	+			210					A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	37	c.416G>A	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860781	0.91433	.	.	ENSG00000121350	ENST00000240651;ENST00000538582	.	.	.	5.22	5.22	0.72569	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.040783	0.85682	D	0.000000	T	0.78091	0.4229	M	0.76433	2.335	0.80722	D	1	D	0.56746	0.977	D	0.65233	0.933	T	0.77890	-0.2419	9	0.44086	T	0.13	.	18.1473	0.89662	0.0:0.0:1.0:0.0	.	210	Q8WU10	PYRD1_HUMAN	K	210;139	.	ENSP00000240651:R210K	R	+	2	0	PYROXD1	21499473	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	8.446000	0.90329	2.587000	0.87381	0.650000	0.86243	AGA		0.338	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		4	64	0	0	0	1	0	4	64				
MAST2	23139	broad.mit.edu	37	1	46476579	46476579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:46476579C>T	ENST00000361297.2	+	10	1439	c.1156C>T	c.(1156-1158)Ctt>Ttt	p.L386F	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTCTACGAACTTCAAGATAA	0.433																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1156-1158)Ctt>Ttt		microtubule associated serine/threonine kinase 2							68.0	65.0	66.0					1																	46476579		1870	4103	5973	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46476579C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1156C>T	1.37:g.46476579C>T	ENSP00000354671:p.Leu386Phe					MAST2_ENST00000372008.1_Missense_Mutation_p.L271F|MAST2_ENST00000372009.2_Intron	p.L386F	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			10	1439	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		386						Missense_Mutation	SNP	ENST00000361297.2	37	c.1156C>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378304	0.82682	.	.	ENSG00000086015	ENST00000361297;ENST00000432341;ENST00000372008	T;T	0.39592	1.07;1.07	5.6	5.6	0.85130	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.90977	3.165	0.80722	D	1	P;P;D	0.89917	0.941;0.941;1.0	P;P;D	0.97110	0.817;0.817;1.0	T	0.77376	-0.2611	10	0.87932	D	0	-16.1121	13.8422	0.63446	0.0:0.927:0.0:0.073	.	94;94;386	B3KU51;E7EWL1;Q6P0Q8	.;.;MAST2_HUMAN	F	386;94;271	ENSP00000354671:L386F;ENSP00000361078:L271F	ENSP00000354671:L386F	L	+	1	0	MAST2	46249166	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	6.083000	0.71326	2.637000	0.89404	0.561000	0.74099	CTT		0.433	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		22	39	0	0	0	1	0	22	39				
FAM47A	158724	broad.mit.edu	37	X	34148117	34148117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:34148117C>T	ENST00000346193.3	-	1	2330	c.2279G>A	c.(2278-2280)aGg>aAg	p.R760K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	760										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCATCCCCTCCTGGCAAACAG	0.418																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2278-2280)aGg>aAg		family with sequence similarity 47, member A							116.0	111.0	112.0					X																	34148117		2202	4297	6499	SO:0001583	missense	158724							g.chrX:34148117C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2279G>A	X.37:g.34148117C>T	ENSP00000345029:p.Arg760Lys						p.R760K	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2330	-			760					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2279G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	6.749	0.506926	0.12883	.	.	ENSG00000185448	ENST00000346193	T	0.14516	2.5	1.13	1.13	0.20643	.	.	.	.	.	T	0.18173	0.0436	N	0.25890	0.77	0.09310	N	1	D	0.61697	0.99	D	0.70935	0.971	T	0.17961	-1.0352	9	0.32370	T	0.25	.	5.3525	0.16043	0.0:1.0:0.0:0.0	.	760	Q5JRC9	FA47A_HUMAN	K	760	ENSP00000345029:R760K	ENSP00000345029:R760K	R	-	2	0	FAM47A	34058038	0.016000	0.18221	0.008000	0.14137	0.003000	0.03518	-0.432000	0.06956	0.877000	0.35895	0.541000	0.68203	AGG		0.418	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		63	85	0	0	0	1	0	63	85				
FUT1	2523	broad.mit.edu	37	19	49254045	49254045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49254045G>A	ENST00000310160.3	-	4	1468	c.494C>T	c.(493-495)tCt>tTt	p.S165F	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	165					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GGGGAAGCCAGAGAGCTTCAG	0.607																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(493-495)tCt>tTt		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							144.0	156.0	152.0					19																	49254045		2199	4295	6494	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49254045G>A		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.494C>T	19.37:g.49254045G>A	ENSP00000312021:p.Ser165Phe						p.S165F	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1468	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	165					O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.494C>T	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	G	8.365	0.834052	0.16820	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96232	-3.95	4.54	2.32	0.28847	.	0.969977	0.08431	N	0.946847	D	0.92519	0.7624	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	D	0.85522	0.1204	10	0.87932	D	0	-0.1454	7.4266	0.27102	0.1003:0.1675:0.7322:0.0	.	165	P19526	FUT1_HUMAN	F	165;155	ENSP00000312021:S165F	ENSP00000312021:S165F	S	-	2	0	FUT1	53945857	0.001000	0.12720	0.000000	0.03702	0.337000	0.28794	0.816000	0.27267	0.608000	0.30000	0.563000	0.77884	TCT		0.607	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		15	184	0	0	0	1	0	15	184				
KCNQ2	3785	broad.mit.edu	37	20	62039866	62039866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:62039866C>T	ENST00000359125.2	-	16	1961	c.1787G>A	c.(1786-1788)gGc>gAc	p.G596D	KCNQ2_ENST00000344462.4_Missense_Mutation_p.G565D|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G604D|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G568D|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G578D|KCNQ2_ENST00000354587.3_Missense_Mutation_p.G604D|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G596D	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	596					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GATCGCTGGGCCCCGCCCCAC	0.687																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1810-1812)gGc>gAc		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						27.0	25.0	25.0					20																	62039866		2194	4298	6492	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62039866C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1787G>A	20.37:g.62039866C>T	ENSP00000352035:p.Gly596Asp					KCNQ2_ENST00000344462.3_Missense_Mutation_p.G592D|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G596D|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G566D|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G604D|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G568D|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G578D|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G565D|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G596D	p.G604D			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		16	1987	-	all_cancers(38;1.24e-11)		597					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1811G>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490721	0.84962	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43	4.87	4.87	0.63330	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	1.158870	0.06504	N	0.736759	D	0.99680	0.9880	M	0.78049	2.395	0.46260	D	0.998955	D;D;D;D	0.63880	0.985;0.992;0.982;0.993	P;P;P;P	0.60541	0.733;0.804;0.625;0.876	D	0.98010	1.0365	10	0.87932	D	0	-2.8136	17.981	0.89141	0.0:1.0:0.0:0.0	.	568;578;565;596	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	D	578;596;566;604;596;565;568;592;604	ENSP00000349789:G578D;ENSP00000352035:G596D;ENSP00000359246:G566D;ENSP00000346601:G604D;ENSP00000352718:G596D;ENSP00000399612:G565D;ENSP00000353668:G568D;ENSP00000339611:G592D;ENSP00000359244:G604D	ENSP00000339611:G592D	G	-	2	0	KCNQ2	61510310	0.978000	0.34361	0.989000	0.46669	0.768000	0.43524	3.601000	0.54059	2.252000	0.74401	0.491000	0.48974	GGC		0.687	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		4	9	0	0	0	1	0	4	9				
MTOR	2475	broad.mit.edu	37	1	11291407	11291407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11291407C>T	ENST00000361445.4	-	17	2675	c.2599G>A	c.(2599-2601)Gtg>Atg	p.V867M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	867					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTCAGTAGCACCTCAAGCAAA	0.527																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(2599-2601)Gtg>Atg		mechanistic target of rapamycin (serine/threonine kinase)							194.0	183.0	187.0					1																	11291407		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11291407C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2599G>A	1.37:g.11291407C>T	ENSP00000354558:p.Val867Met						p.V867M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			17	2675	-			867					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2599G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799366	0.70567	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.66280	-0.2	5.84	5.84	0.93424	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	L	0.50993	1.605	0.80722	D	1	P	0.50943	0.94	P	0.57152	0.814	T	0.72697	-0.4215	10	0.59425	D	0.04	-13.8821	20.1346	0.98019	0.0:1.0:0.0:0.0	.	867	P42345	MTOR_HUMAN	M	867	ENSP00000354558:V867M	ENSP00000354558:V867M	V	-	1	0	MTOR	11213994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.381000	0.79718	2.765000	0.95021	0.655000	0.94253	GTG		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		34	152	0	0	0	1	0	34	152				
CDC6	990	broad.mit.edu	37	17	38447465	38447465	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:38447465C>T	ENST00000209728.4	+	3	805	c.334C>T	c.(334-336)Cta>Tta	p.L112L		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	112					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CAAAAGAGAACTAGCCAAAGT	0.393																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(334-336)Cta>Tta		cell division cycle 6							104.0	97.0	99.0					17																	38447465		2203	4300	6503	SO:0001819	synonymous_variant	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38447465C>T	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.334C>T	17.37:g.38447465C>T							p.L112L	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			3	805	+			112					Q8TB30	Silent	SNP	ENST00000209728.4	37	c.334C>T	CCDS11365.1																																																																																				0.393	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			15	51	0	0	0	1	0	15	51				
KCNU1	157855	broad.mit.edu	37	8	36644938	36644938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:36644938G>A	ENST00000399881.3	+	2	347	c.310G>A	c.(310-312)Gtg>Atg	p.V104M		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	104					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTGGGGCAAGTGTTGGTAAG	0.423																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(310-312)Gtg>Atg		potassium channel, subfamily U, member 1							81.0	78.0	79.0					8																	36644938		1920	4116	6036	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36644938G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.310G>A	8.37:g.36644938G>A	ENSP00000382770:p.Val104Met						p.V104M	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	2	347	+			104						Missense_Mutation	SNP	ENST00000399881.3	37	c.310G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434572	0.43224	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.42513	0.97;0.97	5.48	4.61	0.57282	.	.	.	.	.	T	0.30510	0.0767	L	0.43152	1.355	0.80722	D	1	P	0.48294	0.908	B	0.34489	0.184	T	0.20338	-1.0278	9	0.87932	D	0	-7.5372	10.5362	0.45004	0.0893:0.0:0.9107:0.0	.	104	A8MYU2	KCNU1_HUMAN	M	104	ENSP00000429951:V104M;ENSP00000382770:V104M	ENSP00000382770:V104M	V	+	1	0	KCNU1	36764096	0.997000	0.39634	0.735000	0.30896	0.937000	0.57800	4.099000	0.57755	1.468000	0.48064	-0.136000	0.14681	GTG		0.423	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	18	0	0	0	1	0	4	18				
SUGP1	57794	broad.mit.edu	37	19	19416707	19416707	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19416707G>A	ENST00000247001.5	-	4	836	c.489C>T	c.(487-489)tcC>tcT	p.S163S	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Silent_p.S163S	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	163					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCTCGTCAGGGGACTGGAAGA	0.662																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(487-489)tcC>tcT		SURP and G patch domain containing 1							55.0	53.0	54.0					19																	19416707		2203	4300	6503	SO:0001819	synonymous_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19416707G>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.489C>T	19.37:g.19416707G>A						SUGP1_ENST00000334782.5_Silent_p.S163S|SUGP1_ENST00000585763.1_5'UTR	p.S163S	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			4	836	-			163					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Silent	SNP	ENST00000247001.5	37	c.489C>T	CCDS12399.1																																																																																				0.662	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		4	90	0	0	0	1	0	4	90				
EBP	10682	broad.mit.edu	37	X	48385639	48385639	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:48385639C>T	ENST00000495186.1	+	4	1258	c.435C>T	c.(433-435)ccC>ccT	p.P145P	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	145					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	GCCAGCATCCCCTCCGCTTCA	0.577																																					Ovarian(41;550 1000 33077 33474 52335)	ENST00000495186.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						c.(433-435)ccC>ccT		emopamil binding protein (sterol isomerase)							109.0	93.0	98.0					X																	48385639		2203	4300	6503	SO:0001819	synonymous_variant	10682				cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity	g.chrX:48385639C>T	Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"""3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""sterol 8-isomerase"""	300205	"""emopamil-binding protein (sterol isomerase)"""	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.435C>T	X.37:g.48385639C>T						EBP_ENST00000276096.6_3'UTR	p.P145P	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN			4	1258	+			145					Q6FGL3|Q6IBI9	Silent	SNP	ENST00000495186.1	37	c.435C>T	CCDS14300.1																																																																																				0.577	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579		11	80	0	0	0	1	0	11	80				
CCHCR1	54535	broad.mit.edu	37	6	31118631	31118631	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31118631G>A	ENST00000376266.5	-	6	827	c.705C>T	c.(703-705)acC>acT	p.T235T	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Silent_p.T235T|CCHCR1_ENST00000396268.3_Silent_p.T324T|CCHCR1_ENST00000451521.2_Silent_p.T288T	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	235					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGTCTTCCTGGGTCTTGCTAG	0.577																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(970-972)acC>acT		coiled-coil alpha-helical rod protein 1							225.0	260.0	247.0					6																	31118631		1511	2709	4220	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31118631G>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.705C>T	6.37:g.31118631G>A						CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Silent_p.T235T|CCHCR1_ENST00000451521.2_Silent_p.T288T|CCHCR1_ENST00000396263.2_Silent_p.T235T	p.T324T	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			6	1160	-			235					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.972C>T	CCDS4695.1																																																																																				0.577	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		9	201	0	0	0	1	0	9	201				
CNTN2	6900	broad.mit.edu	37	1	205036302	205036302	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:205036302C>T	ENST00000331830.4	+	16	2333	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	683	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTATGAGTTCCGGGTCATAG	0.582																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2047-2049)ttC>ttT		contactin 2 (axonal)							89.0	88.0	89.0					1																	205036302		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205036302C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2049C>T	1.37:g.205036302C>T							p.F683F	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		16	2333	+	all_cancers(21;0.144)|Breast(84;0.0437)		683			Fibronectin type-III 1.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2049C>T	CCDS1449.1																																																																																				0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		25	53	0	0	0	1	0	25	53				
TANGO2	128989	broad.mit.edu	37	22	20050864	20050864	+	Silent	SNP	G	G	A	rs150834860		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:20050864G>A	ENST00000327374.4	+	8	787	c.609G>A	c.(607-609)caG>caA	p.Q203Q	AC006547.13_ENST00000596334.1_RNA|TANGO2_ENST00000420290.2_Silent_p.Q105Q|AC006547.13_ENST00000600617.1_RNA|AC006547.13_ENST00000595864.1_RNA|AC006547.13_ENST00000609644.1_RNA|TANGO2_ENST00000401886.1_Silent_p.Q141Q|AC006547.13_ENST00000600937.1_RNA|AC006547.13_ENST00000598339.1_RNA|AC006547.13_ENST00000609191.1_RNA|TANGO2_ENST00000401833.1_Silent_p.Q244Q|TANGO2_ENST00000447208.2_Silent_p.Q203Q|AC006547.13_ENST00000608610.1_RNA|AC006547.13_ENST00000415503.1_RNA|AC006547.15_ENST00000600090.1_RNA|TANGO2_ENST00000398042.2_Silent_p.Q141Q|AC006547.13_ENST00000601746.1_RNA|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000432883.1_Silent_p.Q141Q|TANGO2_ENST00000456048.1_Silent_p.Q208Q	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	203																	CCTGCAGGCAGCTGCCAGACC	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14817	0.0		0.0	False		,,,				2504	0.0					ENST00000327374.4																			0											c.(607-609)caG>caA		transport and golgi organization 2 homolog (Drosophila)		G		2,4404	4.2+/-10.8	0,2,2201	62.0	57.0	59.0		609	3.4	1.0	22	dbSNP_134	59	0,8600		0,0,4300	no	coding-synonymous	C22orf25	NM_152906.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		203/277	20050864	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	128989							g.chr22:20050864G>A		CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 25"""	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.609G>A	22.37:g.20050864G>A						TANGO2_ENST00000401833.1_Silent_p.Q244Q|TANGO2_ENST00000401886.1_Silent_p.Q141Q|TANGO2_ENST00000420290.2_Silent_p.Q105Q|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000432883.1_Silent_p.Q141Q|AC006547.13_ENST00000415503.1_RNA|TANGO2_ENST00000398042.2_Silent_p.Q141Q|AC006547.13_ENST00000595864.1_RNA|AC006547.13_ENST00000601746.1_RNA|AC006547.13_ENST00000596334.1_RNA|AC006547.13_ENST00000598339.1_RNA|TANGO2_ENST00000447208.2_Silent_p.Q203Q|AC006547.13_ENST00000600617.1_RNA|AC006547.13_ENST00000600937.1_RNA|TANGO2_ENST00000456048.1_Silent_p.Q208Q	p.Q203Q	NM_152906.4	NP_690870.3					8	787	+								A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Silent	SNP	ENST00000327374.4	37	c.609G>A	CCDS13772.1																																																																																				0.677	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318689.2	NM_152906		8	50	0	0	0	1	0	8	50				
SPEN	23013	broad.mit.edu	37	1	16261222	16261222	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16261222G>A	ENST00000375759.3	+	11	8691	c.8487G>A	c.(8485-8487)cgG>cgA	p.R2829R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2829	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCCACAGCGGATCAGCGCCA	0.592																																						ENST00000375759.3																			0				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						c.(8485-8487)cgG>cgA		spen family transcriptional repressor							74.0	72.0	73.0					1																	16261222		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261222G>A		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.8487G>A	1.37:g.16261222G>A							p.R2829R	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		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)	11	8691	+		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)	2829			Interaction with RBPSUH (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.8487G>A	CCDS164.1																																																																																				0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		21	31	0	0	0	1	0	21	31				
MYOM2	9172	broad.mit.edu	37	8	2088767	2088767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:2088767G>A	ENST00000262113.4	+	33	4063	c.3922G>A	c.(3922-3924)Ggc>Agc	p.G1308S	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.G733S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1308					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			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)		GATTTTCGATGGCAAAGACAA	0.413																																						ENST00000262113.4																			0				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						c.(3922-3924)Ggc>Agc		myomesin 2							105.0	97.0	100.0					8																	2088767		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088767G>A		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.3922G>A	8.37:g.2088767G>A	ENSP00000262113:p.Gly1308Ser					MYOM2_ENST00000523438.1_Missense_Mutation_p.G733S|MYOM2_ENST00000520298.1_3'UTR	p.G1308S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	4063	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1308					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.3922G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717148	0.48622	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.33865	1.39;1.39	5.13	5.13	0.70059	.	0.250540	0.38720	N	0.001589	T	0.41926	0.1180	M	0.75085	2.285	0.49915	D	0.999839	B	0.30727	0.292	B	0.22386	0.039	T	0.47471	-0.9115	10	0.72032	D	0.01	.	18.6084	0.91275	0.0:0.0:1.0:0.0	.	1308	P54296	MYOM2_HUMAN	S	1308;733	ENSP00000262113:G1308S;ENSP00000428396:G733S	ENSP00000262113:G1308S	G	+	1	0	MYOM2	2076174	1.000000	0.71417	0.653000	0.29593	0.027000	0.11550	7.662000	0.83803	2.385000	0.81259	0.563000	0.77884	GGC		0.413	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		11	72	0	0	0	1	0	11	72				
TMC1	117531	broad.mit.edu	37	9	75309473	75309473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:75309473G>A	ENST00000297784.5	+	7	619	c.79G>A	c.(79-81)Gag>Aag	p.E27K	TMC1_ENST00000340019.3_Missense_Mutation_p.E27K|TMC1_ENST00000396237.3_Missense_Mutation_p.E27K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	27	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGAGGAAGAGGAGGTGGAAGA	0.418																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(79-81)Gag>Aag		transmembrane channel-like 1							109.0	100.0	103.0					9																	75309473		2202	4300	6502	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75309473G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.79G>A	9.37:g.75309473G>A	ENSP00000297784:p.Glu27Lys					TMC1_ENST00000340019.3_Missense_Mutation_p.E27K|TMC1_ENST00000396237.3_Missense_Mutation_p.E27K	p.E27K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			7	619	+			27			Arg/Asp/Glu/Lys-rich (highly charged).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.79G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590453	0.28357	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.14766	2.48;2.48;2.48	5.26	5.26	0.73747	.	0.130895	0.51477	D	0.000093	T	0.10766	0.0263	L	0.34521	1.04	0.23649	N	0.997203	B;B	0.25048	0.069;0.117	B;B	0.26416	0.069;0.069	T	0.27606	-1.0069	10	0.07644	T	0.81	-19.6958	14.3902	0.66973	0.0:0.0:1.0:0.0	.	36;27	A4FUA6;Q8TDI8	.;TMC1_HUMAN	K	27;27;36;36;36;21;27	ENSP00000297784:E27K;ENSP00000341433:E27K;ENSP00000379538:E27K	ENSP00000297784:E27K	E	+	1	0	TMC1	74499293	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.770000	0.38532	2.449000	0.82847	0.603000	0.83216	GAG		0.418	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			5	20	0	0	0	1	0	5	20				
ABCB6	10058	broad.mit.edu	37	2	220083369	220083369	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220083369C>T	ENST00000265316.3	-	1	343	c.27G>A	c.(25-27)gaG>gaA	p.E9E	ABCB6_ENST00000439002.2_Silent_p.E9E	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	9					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTTCGGCCTCGCAGTAGT	0.692																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(25-27)gaG>gaA		ATP-binding cassette, sub-family B (MDR/TAP), member 6							22.0	26.0	25.0					2																	220083369		2193	4265	6458	SO:0001819	synonymous_variant	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220083369C>T	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.27G>A	2.37:g.220083369C>T						ABCB6_ENST00000439002.2_Silent_p.E9E	p.E9E	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	343	-		Renal(207;0.0474)	9					O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	c.27G>A	CCDS2436.1																																																																																				0.692	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		8	23	0	0	0	1	0	8	23				
FBXW7	55294	broad.mit.edu	37	4	153332889	153332889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:153332889G>A	ENST00000281708.4	-	2	1296	c.67C>T	c.(67-69)Cct>Tct	p.P23S	FBXW7_ENST00000603841.1_Missense_Mutation_p.P23S|FBXW7_ENST00000603548.1_Missense_Mutation_p.P23S|FBXW7_ENST00000604872.1_Missense_Mutation_p.P23S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	23					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)			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)				CTTGAGGAAGGGTTACCTCTC	0.498			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		0				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						c.(67-69)Cct>Tct		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							141.0	121.0	128.0					4																	153332889		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153332889G>A	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.67C>T	4.37:g.153332889G>A	ENSP00000281708:p.Pro23Ser					FBXW7_ENST00000603841.1_Missense_Mutation_p.P23S|FBXW7_ENST00000603548.1_Missense_Mutation_p.P23S|FBXW7_ENST00000604872.1_Missense_Mutation_p.P23S	p.P23S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			2	1296	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	23					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.67C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189189	0.21954	.	.	ENSG00000109670	ENST00000281708	T	0.49139	0.79	5.67	-0.728	0.11162	.	0.354551	0.23955	N	0.042914	T	0.23133	0.0559	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.03325	-1.1048	10	0.38643	T	0.18	-0.4829	9.135	0.36868	0.2229:0.5237:0.2534:0.0	.	23;23	G0Z2K0;Q969H0	.;FBXW7_HUMAN	S	23	ENSP00000281708:P23S	ENSP00000281708:P23S	P	-	1	0	FBXW7	153552339	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.463000	0.35277	0.041000	0.15688	-0.143000	0.13931	CCT		0.498	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			5	37	0	0	0	1	0	5	37				
GNAT1	2779	broad.mit.edu	37	3	50231048	50231048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:50231048C>T	ENST00000433068.1	+	4	457	c.401C>T	c.(400-402)gCc>gTc	p.A134V	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000232461.3_Missense_Mutation_p.A134V	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	134					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGTATCCAGGCCTGTTTTGAG	0.682																																						ENST00000232461.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(400-402)gCc>gTc		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1							37.0	34.0	35.0					3																	50231048		2203	4299	6502	SO:0001583	missense	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50231048C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.401C>T	3.37:g.50231048C>T	ENSP00000387555:p.Ala134Val					GNAT1_ENST00000433068.1_Missense_Mutation_p.A134V|GNAT1_ENST00000481246.1_3'UTR	p.A134V	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	4	515	+			134					Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	c.401C>T	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725267	0.89298	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	D;D;D	0.89123	-2.47;-2.47;-2.47	5.6	5.6	0.85130	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	M	0.67700	2.07	0.80722	D	1	B	0.22800	0.075	B	0.22152	0.038	D	0.85133	0.0976	10	0.45353	T	0.12	.	18.3738	0.90428	0.0:1.0:0.0:0.0	.	134	P11488	GNAT1_HUMAN	V	134;134;86	ENSP00000232461:A134V;ENSP00000387555:A134V;ENSP00000403537:A86V	ENSP00000232461:A134V	A	+	2	0	GNAT1	50206052	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.874000	0.69652	2.653000	0.90120	0.561000	0.74099	GCC		0.682	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		6	42	0	0	0	1	0	6	42				
MET	4233	broad.mit.edu	37	7	116397780	116397780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116397780G>A	ENST00000318493.6	+	8	2241	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	MET_ENST00000397752.3_Missense_Mutation_p.G685E|MET_ENST00000436117.2_Missense_Mutation_p.G685E			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTAAACAGTGGGAATTCTAGA	0.348			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2053-2055)gGg>gAg		met proto-oncogene							94.0	92.0	92.0					7																	116397780		1850	4099	5949	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116397780G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2054G>A	7.37:g.116397780G>A	ENSP00000317272:p.Gly685Glu					MET_ENST00000318493.6_Missense_Mutation_p.G685E|MET_ENST00000436117.2_Missense_Mutation_p.G685E	p.G685E	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		8	2254	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	685			IPT/TIG 2.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2054G>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451246	0.84209	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.75704	-0.96;-0.96;-0.96	5.45	5.45	0.79879	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89694	0.6789	M	0.91972	3.26	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.986;1.0;0.997;1.0;1.0;1.0	D	0.91398	0.5141	10	0.87932	D	0	-14.572	19.6495	0.95795	0.0:0.0:1.0:0.0	.	685;685;685;685;657;685;685	B5A929;E7EQ94;B5A930;B5A934;B5A936;P08581-2;P08581	.;.;.;.;.;.;MET_HUMAN	E	685	ENSP00000380860:G685E;ENSP00000317272:G685E;ENSP00000410980:G685E	ENSP00000317272:G685E	G	+	2	0	MET	116185016	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	6.821000	0.75272	2.717000	0.92951	0.585000	0.79938	GGG		0.348	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			22	316	0	0	0	1	0	22	316				
TAF1	6872	broad.mit.edu	37	X	70644088	70644088	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70644088G>A	ENST00000373790.4	+	32	4801	c.4750G>A	c.(4750-4752)Gga>Aga	p.G1584R	TAF1_ENST00000276072.3_Splice_Site_p.G1605R|TAF1_ENST00000423759.1_Splice_Site_p.G1605R|TAF1_ENST00000449580.1_Splice_Site_p.G1584R|TAF1_ENST00000461764.1_3'UTR	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1584	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAAGTATAATGGTGGGTATTT	0.348																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.e32+1		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							129.0	114.0	119.0					X																	70644088		2203	4300	6503	SO:0001630	splice_region_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70644088G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4750+1G>A	X.37:g.70644088G>A						TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Splice_Site_p.G1584_splice|TAF1_ENST00000276072.3_Splice_Site_p.G1605_splice|TAF1_ENST00000423759.1_Splice_Site_p.G1605_splice	p.G1584_splice			P21675	TAF1_HUMAN			32	4801	+	Renal(35;0.156)	all_lung(315;0.000321)	1584			Bromo 2.|Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Splice_Site	SNP	ENST00000373790.4	37	c.4750_splice	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.550715|4.550715	0.86127|0.86127	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072|ENST00000437147	T;T;T;T|.	0.31247|.	1.5;1.5;1.5;1.5|.	4.85|4.85	4.85|4.85	0.62838|0.62838	Bromodomain (6);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71333|0.71333	0.3327|0.3327	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.70684|0.70684	-0.4804|-0.4804	10|5	0.87932|.	D|.	0|.	.|.	17.4158|17.4158	0.87499|0.87499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1584;1584;1605|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	R|I	1584;1584;1605;290;290;1605|238	ENSP00000362895:G1584R;ENSP00000389000:G1584R;ENSP00000406549:G1605R;ENSP00000276072:G1605R|.	ENSP00000276072:G1605R|.	G|M	+|+	1|3	0|0	TAF1|TAF1	70560813|70560813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.175000|9.175000	0.94831|0.94831	2.125000|2.125000	0.65367|0.65367	0.600000|0.600000	0.82982|0.82982	GGA;GGA;GGA;GGA;GGG;GGA|ATG		0.348	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	Missense_Mutation	4	72	0	0	0	1	0	4	72				
UAP1	6675	broad.mit.edu	37	1	162551080	162551080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:162551080G>A	ENST00000367925.1	+	4	697	c.665G>A	c.(664-666)gGg>gAg	p.G222E	UAP1_ENST00000367924.1_Missense_Mutation_p.G222E|UAP1_ENST00000271469.3_Missense_Mutation_p.G222E|UAP1_ENST00000367926.4_Missense_Mutation_p.G222E			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	222					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)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.G222V(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTCCAGATGGGAATGGTGGT	0.388																																						ENST00000271469.3																			1	Substitution - Missense(1)	p.G222V(1)	lung(1)	breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(664-666)gGg>gAg		UDP-N-acteylglucosamine pyrophosphorylase 1							216.0	220.0	218.0					1																	162551080		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162551080G>A	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.665G>A	1.37:g.162551080G>A	ENSP00000356902:p.Gly222Glu					UAP1_ENST00000367924.1_Missense_Mutation_p.G222E|UAP1_ENST00000367926.4_Missense_Mutation_p.G222E|UAP1_ENST00000367925.1_Missense_Mutation_p.G222E	p.G222E			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		5	967	+	all_hematologic(112;0.115)		222					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.665G>A		.	.	.	.	.	.	.	.	.	.	G	25.1	4.597834	0.87055	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	H	0.96398	3.815	0.58432	D	0.999998	D	0.71674	0.998	D	0.70487	0.969	D	0.93538	0.6875	9	0.87932	D	0	-20.4648	17.5485	0.87870	0.0:0.0:1.0:0.0	.	222	Q16222-2	.	E	222	ENSP00000356903:G222E;ENSP00000271469:G222E;ENSP00000356902:G222E;ENSP00000356901:G222E	ENSP00000271469:G222E	G	+	2	0	UAP1	160817704	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.614000	0.98353	2.548000	0.85928	0.591000	0.81541	GGG		0.388	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		9	143	0	0	0	1	0	9	143				
WDR62	284403	broad.mit.edu	37	19	36590442	36590442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36590442C>T	ENST00000270301.7	+	22	2662	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S	WDR62_ENST00000401500.2_Missense_Mutation_p.P888S			O43379	WDR62_HUMAN	WD repeat domain 62	888					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTACTTTACCCCCATGAAGCC	0.627																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2662-2664)Ccc>Tcc		WD repeat domain 62							78.0	78.0	78.0					19																	36590442		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36590442C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2662C>T	19.37:g.36590442C>T	ENSP00000270301:p.Pro888Ser					WDR62_ENST00000270301.7_Missense_Mutation_p.P888S	p.P888S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		22	2697	+	Esophageal squamous(110;0.162)		888					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2662C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585310	0.66105	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.33438	1.41;1.41	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000014	T	0.49081	0.1536	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.48779	-0.9005	10	0.02654	T	1	-31.336	14.7075	0.69203	0.0:1.0:0.0:0.0	.	888;888	O43379-4;O43379	.;WDR62_HUMAN	S	888	ENSP00000384792:P888S;ENSP00000270301:P888S	ENSP00000270301:P888S	P	+	1	0	WDR62	41282282	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.664000	0.61540	2.548000	0.85928	0.655000	0.94253	CCC		0.627	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		12	61	0	0	0	1	0	12	61				
IGFN1	91156	broad.mit.edu	37	1	201195153	201195153	+	Missense_Mutation	SNP	C	C	T	rs527626553	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201195153C>T	ENST00000335211.4	+	22	10818	c.10688C>T	c.(10687-10689)cCc>cTc	p.P3563L	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1106						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCATCCTCCCCGGCCACGAA	0.672													C|||	9	0.00179712	0.0	0.0	5008	,	,		18930	0.0		0.0	False		,,,				2504	0.0092					ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10687-10689)cCc>cTc		immunoglobulin-like and fibronectin type III domain containing 1							76.0	60.0	65.0					1																	201195153		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201195153C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10688C>T	1.37:g.201195153C>T	ENSP00000334714:p.Pro3563Leu					IGFN1_ENST00000295591.8_3'UTR	p.P3563L	NM_001164586.1	NP_001158058.1					22	10818	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10688C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622322	0.46840	.	.	ENSG00000163395	ENST00000335211	T	0.69040	-0.37	4.91	4.91	0.64330	.	0.063176	0.64402	D	0.000004	D	0.86556	0.5961	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.89784	0.3963	10	0.59425	D	0.04	.	16.4371	0.83880	0.0:1.0:0.0:0.0	.	3563	F8WAI1	.	L	3563	ENSP00000334714:P3563L	ENSP00000334714:P3563L	P	+	2	0	IGFN1	199461776	0.987000	0.35691	0.946000	0.38457	0.052000	0.14988	2.804000	0.47931	2.548000	0.85928	0.561000	0.74099	CCC		0.672	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		3	34	0	0	0	1	0	3	34				
DNMT3B	1789	broad.mit.edu	37	20	31372564	31372564	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:31372564G>A	ENST00000328111.2	+	4	526	c.205G>A	c.(205-207)Gac>Aac	p.D69N	DNMT3B_ENST00000201963.3_Splice_Site_p.D81N|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Splice_Site_p.D69N|DNMT3B_ENST00000375623.4_Splice_Site_p.D69N|DNMT3B_ENST00000348286.2_Splice_Site_p.D69N|DNMT3B_ENST00000353855.2_Splice_Site_p.D69N|DNMT3B_ENST00000344505.4_Splice_Site_p.D69N	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	69	Interaction with DNMT1 and DNMT3A.				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)			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						CCTTATAAAGGACTTGACAGG	0.517																																						ENST00000328111.2																			0				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						c.e4-1		DNA (cytosine-5-)-methyltransferase 3 beta							66.0	57.0	60.0					20																	31372564		2203	4300	6503	SO:0001630	splice_region_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31372564G>A		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.205-1G>A	20.37:g.31372564G>A						DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Splice_Site_p.D69_splice|DNMT3B_ENST00000443239.3_Splice_Site_p.D69_splice|DNMT3B_ENST00000353855.2_Splice_Site_p.D69_splice|DNMT3B_ENST00000201963.3_Splice_Site_p.D81_splice|DNMT3B_ENST00000344505.4_Splice_Site_p.D69_splice|DNMT3B_ENST00000375623.4_Splice_Site_p.D69_splice	p.D69_splice	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			4	526	+			69			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Splice_Site	SNP	ENST00000328111.2	37	c.204_splice	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633995	0.47049	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;T;D	0.98164	-4.73;-4.63;-4.76;-4.68;-4.65;-0.54;-4.64	4.88	4.88	0.63580	.	0.786233	0.11547	N	0.553141	D	0.95595	0.8568	N	0.24115	0.695	0.80722	D	1	B;B;P;B;B	0.44521	0.391;0.383;0.837;0.342;0.236	B;B;B;B;B	0.42593	0.086;0.107;0.392;0.217;0.075	D	0.92941	0.6372	9	.	.	.	-28.9233	13.735	0.62813	0.0:0.0:1.0:0.0	.	69;81;69;69;69	E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;DNM3B_HUMAN	N	69;155;69;69;69;69;69;81	ENSP00000328547:D69N;ENSP00000313397:D69N;ENSP00000337764:D69N;ENSP00000403169:D69N;ENSP00000345105:D69N;ENSP00000364774:D69N;ENSP00000201963:D81N	.	D	+	1	0	DNMT3B	30836225	1.000000	0.71417	0.993000	0.49108	0.250000	0.25880	4.020000	0.57189	2.685000	0.91497	0.655000	0.94253	GAC		0.517	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Missense_Mutation	5	52	0	0	0	1	0	5	52				
PLEKHA2	59339	broad.mit.edu	37	8	38827064	38827064	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:38827064C>T	ENST00000420274.1	+	12	1275	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	PLEKHA2_ENST00000388745.4_3'UTR|CTD-2544N14.3_ENST00000520863.1_RNA|PLEKHA2_ENST00000521746.1_Intron	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	347					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCTGCAAAGCCCCCTCTGTGG	0.612																																						ENST00000420274.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(1039-1041)gcC>gcT		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2							24.0	28.0	27.0					8																	38827064		1856	4084	5940	SO:0001819	synonymous_variant	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38827064C>T	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.1041C>T	8.37:g.38827064C>T						PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Intron	p.A347A	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		12	1275	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	347						Silent	SNP	ENST00000420274.1	37	c.1041C>T																																																																																					0.612	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021623		6	14	0	0	0	1	0	6	14				
ACKR4	51554	broad.mit.edu	37	3	132319625	132319625	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:132319625G>A	ENST00000249887.2	+	2	480	c.384G>A	c.(382-384)caG>caA	p.Q128Q	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	128					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CTGGAATGCAGTTTCTGGCTT	0.423																																						ENST00000249887.2																			0											c.(382-384)caG>caA		atypical chemokine receptor 4							130.0	126.0	128.0					3																	132319625		2203	4300	6503	SO:0001819	synonymous_variant	51554							g.chr3:132319625G>A	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.384G>A	3.37:g.132319625G>A						ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	p.Q128Q	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	480	+								B2R9U7	Silent	SNP	ENST00000249887.2	37	c.384G>A	CCDS3075.1																																																																																				0.423	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		5	133	0	0	0	1	0	5	133				
PCDHA6	56142	broad.mit.edu	37	5	140209285	140209285	+	Missense_Mutation	SNP	G	G	A	rs188962276		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140209285G>A	ENST00000529310.1	+	1	1723	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTGAGCGCGCGCGACGC	0.677																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1609-1611)Gcg>Acg									64.0	74.0	71.0					5																	140209285		2202	4297	6499	SO:0001583	missense	0							g.chr5:140209285G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1609G>A	5.37:g.140209285G>A	ENSP00000433378:p.Ala537Thr					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A537T	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1723	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1609G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924246	0.52653	.	.	ENSG00000081842	ENST00000529310	T	0.75589	-0.95	3.83	3.83	0.44106	Cadherin (5);Cadherin-like (1);	0.221624	0.22067	U	0.065097	D	0.90031	0.6887	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.92704	0.6177	10	0.87932	D	0	.	13.0286	0.58829	0.0:0.0:0.8385:0.1615	.	537;537	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	537	ENSP00000433378:A537T	ENSP00000433378:A537T	A	+	1	0	PCDHA6	140189469	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	9.028000	0.93712	2.135000	0.66039	0.306000	0.20318	GCG		0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		61	148	0	0	0	1	0	61	148				
RADIL	55698	broad.mit.edu	37	7	4917565	4917565	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4917565C>T	ENST00000399583.3	-	2	393	c.206G>A	c.(205-207)gGg>gAg	p.G69E	RADIL_ENST00000536091.1_Missense_Mutation_p.G69E	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	69	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GACACTGTCCCCAAACACCTT	0.672																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(205-207)gGg>gAg		Ras association and DIL domains							21.0	26.0	25.0					7																	4917565		2001	4151	6152	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917565C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.206G>A	7.37:g.4917565C>T	ENSP00000382492:p.Gly69Glu					RADIL_ENST00000536091.1_Missense_Mutation_p.G69E	p.G69E	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	393	-		Ovarian(82;0.0175)	69			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.206G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997942	0.93227	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T;T	0.17854	2.25;2.25;2.25	5.84	5.84	0.93424	Ras-association (3);	0.055012	0.64402	D	0.000001	T	0.49677	0.1571	M	0.85945	2.785	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.52961	-0.8505	10	0.87932	D	0	-47.4793	19.1314	0.93408	0.0:1.0:0.0:0.0	.	69	Q96JH8	RADIL_HUMAN	E	69;43;69;69	ENSP00000382492:G69E;ENSP00000442533:G69E;ENSP00000398057:G69E	ENSP00000320946:G43E	G	-	2	0	RADIL	4884091	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.487000	0.81328	2.769000	0.95229	0.561000	0.74099	GGG		0.672	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		6	37	0	0	0	1	0	6	37				
KMT2A	4297	broad.mit.edu	37	11	118342789	118342789	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118342789G>A	ENST00000389506.5	+	3	915	c.915G>A	c.(913-915)agG>agA	p.R305R	KMT2A_ENST00000534358.1_Silent_p.R305R|KMT2A_ENST00000354520.4_Silent_p.R305R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	305					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)										GGAGAGGAAGGCCTCCATCAA	0.458																																						ENST00000534358.1																			0											c.(913-915)agG>agA		lysine (K)-specific methyltransferase 2A							74.0	85.0	81.0					11																	118342789		2199	4292	6491	SO:0001819	synonymous_variant	4297							g.chr11:118342789G>A	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.915G>A	11.37:g.118342789G>A						KMT2A_ENST00000354520.4_Silent_p.R305R|KMT2A_ENST00000389506.5_Silent_p.R305R	p.R305R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	938	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.915G>A	CCDS31686.1																																																																																				0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		42	67	0	0	0	1	0	42	67				
ARHGAP9	64333	broad.mit.edu	37	12	57870660	57870660	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57870660G>A	ENST00000356411.2	-	6	1095	c.957C>T	c.(955-957)gaC>gaT	p.D319D	ARHGAP9_ENST00000550288.1_Silent_p.D398D|ARHGAP9_ENST00000430041.2_Silent_p.D135D|ARHGAP9_ENST00000550454.1_Intron|ARHGAP9_ENST00000393797.2_Silent_p.D390D|ARHGAP9_ENST00000393791.3_Silent_p.D319D|ARHGAP9_ENST00000424809.2_Silent_p.D319D			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	319					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)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCACATGGGGGTCGTCCAGGA	0.582																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(1168-1170)gaC>gaT		Rho GTPase activating protein 9							51.0	57.0	55.0					12																	57870660		2203	4300	6503	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57870660G>A	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.957C>T	12.37:g.57870660G>A						ARHGAP9_ENST00000550288.1_Silent_p.D398D|ARHGAP9_ENST00000550454.1_Intron|ARHGAP9_ENST00000424809.2_Silent_p.D319D|ARHGAP9_ENST00000356411.2_Silent_p.D319D|ARHGAP9_ENST00000393791.3_Silent_p.D319D|ARHGAP9_ENST00000430041.2_Silent_p.D135D	p.D390D			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		9	1362	-			319			PH.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.1170C>T																																																																																					0.582	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		19	39	0	0	0	1	0	19	39				
FES	2242	broad.mit.edu	37	15	91432858	91432858	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:91432858G>A	ENST00000328850.3	+	7	1060	c.918G>A	c.(916-918)gtG>gtA	p.V306V	FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Silent_p.V306V|FES_ENST00000394302.1_Silent_p.V248V|FES_ENST00000450438.2_Silent_p.V248V|FES_ENST00000414248.2_Silent_p.V248V|FES_ENST00000394300.3_Silent_p.V248V	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	306					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGGAGAGCGTGCAGCACACGT	0.627																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(916-918)gtG>gtA		feline sarcoma oncogene							73.0	72.0	72.0					15																	91432858		2198	4298	6496	SO:0001819	synonymous_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91432858G>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.918G>A	15.37:g.91432858G>A						FES_ENST00000414248.2_Silent_p.V248V|FES_ENST00000444422.2_Silent_p.V306V|FES_ENST00000394300.3_Silent_p.V248V|FES_ENST00000448367.1_3'UTR|FES_ENST00000394302.1_Silent_p.V248V|FES_ENST00000450438.2_Silent_p.V248V	p.V306V	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		7	1060	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		306					B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.918G>A	CCDS10365.1																																																																																				0.627	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		9	110	0	0	0	1	0	9	110				
GRIK1	2897	broad.mit.edu	37	21	30934137	30934137	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:30934137C>T	ENST00000399907.1	-	15	2575	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	GRIK1_ENST00000327783.4_Missense_Mutation_p.A722T|GRIK1_ENST00000399909.1_Missense_Mutation_p.A707T|GRIK1_ENST00000399913.1_Missense_Mutation_p.A722T|GRIK1_ENST00000389124.2_Missense_Mutation_p.A722T|GRIK1_ENST00000399914.1_Missense_Mutation_p.A707T|GRIK1_ENST00000535441.1_Missense_Mutation_p.A724T|GRIK1_ENST00000309434.7_Missense_Mutation_p.A724T|GRIK1_ENST00000389125.3_Missense_Mutation_p.A707T	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	722					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CTCATGAAAGCCCACATCTTC	0.498																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2119-2121)Gct>Act		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						80.0	70.0	73.0					21																	30934137		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30934137C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2164G>A	21.37:g.30934137C>T	ENSP00000382791:p.Ala722Thr					GRIK1_ENST00000389125.3_Missense_Mutation_p.A707T|GRIK1_ENST00000399909.1_Missense_Mutation_p.A707T|GRIK1_ENST00000399913.1_Missense_Mutation_p.A722T|GRIK1_ENST00000399907.1_Missense_Mutation_p.A722T|GRIK1_ENST00000309434.7_Missense_Mutation_p.A724T|GRIK1_ENST00000389124.2_Missense_Mutation_p.A722T|GRIK1_ENST00000535441.1_Missense_Mutation_p.A724T|GRIK1_ENST00000327783.4_Missense_Mutation_p.A722T	p.A707T			P39086	GRIK1_HUMAN			14	2640	-			722					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2119G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925066	0.73213	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	4.96	4.96	0.65561	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	L	0.37897	1.145	0.80722	D	1	B;B;B;B	0.30439	0.188;0.188;0.188;0.279	B;B;B;B	0.30855	0.121;0.121;0.121;0.073	T	0.17228	-1.0376	10	0.11794	T	0.64	.	18.367	0.90394	0.0:1.0:0.0:0.0	.	707;722;722;707	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	T	722;707;722;707;724;583;722;722;707;724	ENSP00000327687:A722T;ENSP00000373777:A707T;ENSP00000382797:A722T;ENSP00000382798:A707T;ENSP00000446326:A724T;ENSP00000373776:A722T;ENSP00000382791:A722T;ENSP00000382793:A707T;ENSP00000311646:A724T	ENSP00000311646:A724T	A	-	1	0	GRIK1	29856008	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.573000	0.82421	2.733000	0.93635	0.655000	0.94253	GCT		0.498	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			8	35	0	0	0	1	0	8	35				
ATP6V1E1	529	broad.mit.edu	37	22	18081048	18081048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:18081048C>T	ENST00000253413.5	-	7	624	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.V126M|ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.V118M	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	148					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		GCCTTCTGCACTGCAGCCTGG	0.418																																						ENST00000253413.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(442-444)Gtg>Atg		ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1							146.0	123.0	131.0					22																	18081048		2203	4300	6503	SO:0001583	missense	529				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr22:18081048C>T	X76228	CCDS13745.1, CCDS42977.1, CCDS42978.1	22q11.2	2010-04-21	2006-01-13	2002-06-21	ENSG00000131100	ENSG00000131100	3.6.3.14	"""ATPases / V-type"""	857	protein-coding gene	gene with protein product		108746	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1"""	ATP6E, ATP6V1E		8004105, 8250920	Standard	NM_001696		Approved	P31, Vma4, ATP6E2	uc002zmr.1	P36543	OTTHUMG00000059320	ENST00000253413.5:c.442G>A	22.37:g.18081048C>T	ENSP00000253413:p.Val148Met					ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.V118M|ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.V126M	p.V148M	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN		Lung(27;0.19)	7	624	-		all_epithelial(15;0.206)	148					A8MUE4|A8MUN4	Missense_Mutation	SNP	ENST00000253413.5	37	c.442G>A	CCDS13745.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846489	0.32606	.	.	ENSG00000131100	ENST00000253413;ENST00000399796;ENST00000399798;ENST00000413576	.	.	.	5.04	5.04	0.67666	.	0.056703	0.64402	D	0.000001	T	0.72851	0.3512	L	0.61036	1.89	0.54753	D	0.999989	P;P;P	0.49447	0.687;0.924;0.814	B;P;P	0.55345	0.439;0.774;0.626	T	0.75071	-0.3447	9	0.56958	D	0.05	-19.5532	17.4995	0.87727	0.0:1.0:0.0:0.0	.	126;118;148	A8MUE4;A8MUN4;P36543	.;.;VATE1_HUMAN	M	148;118;126;149	.	ENSP00000253413:V148M	V	-	1	0	ATP6V1E1	16461048	0.958000	0.32768	0.993000	0.49108	0.179000	0.23085	2.120000	0.41968	2.489000	0.83994	0.655000	0.94253	GTG		0.418	ATP6V1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131790.3	NM_001696		17	39	0	0	0	1	0	17	39				
CAMSAP1	157922	broad.mit.edu	37	9	138714654	138714654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:138714654C>T	ENST00000389532.4	-	11	1917	c.1853G>A	c.(1852-1854)gGg>gAg	p.G618E	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G629E|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G340E|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	618					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTCGGTCTCCCTTCCCCCCG	0.537																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1852-1854)gGg>gAg		calmodulin regulated spectrin-associated protein 1							60.0	65.0	64.0					9																	138714654		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714654C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1853G>A	9.37:g.138714654C>T	ENSP00000374183:p.Gly618Glu					CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G340E|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G629E|CAMSAP1_ENST00000483991.1_5'UTR	p.G618E	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1917	-			618					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1853G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482077	0.44147	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.14144	2.53;2.53;2.53	5.44	4.52	0.55395	.	0.054955	0.64402	D	0.000001	T	0.34948	0.0915	L	0.61218	1.895	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.12656	-1.0539	10	0.87932	D	0	-33.4641	15.3125	0.74045	0.1411:0.8589:0.0:0.0	.	618;629	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	E	618;340;629	ENSP00000374183:G618E;ENSP00000312463:G340E;ENSP00000386420:G629E	ENSP00000312463:G340E	G	-	2	0	CAMSAP1	137854475	1.000000	0.71417	0.189000	0.23252	0.095000	0.18619	4.473000	0.60196	1.252000	0.44001	0.655000	0.94253	GGG		0.537	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		4	53	0	0	0	1	0	4	53				
CMTM1	113540	broad.mit.edu	37	16	66600811	66600811	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:66600811C>T	ENST00000457188.2	+	1	202				CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.S132F|CMTM1_ENST00000379500.2_Missense_Mutation_p.S132F|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.S132F|CMTM1_ENST00000531885.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000528324.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AAACGTTTCTCCTTCTCGCCC	0.557																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(394-396)tCc>tTc		CKLF-like MARVEL transmembrane domain containing 1							78.0	66.0	70.0					16																	66600811		2201	4300	6501	SO:0001627	intron_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66600811C>T	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.81+314C>T	16.37:g.66600811C>T						CMTM1_ENST00000328020.6_Missense_Mutation_p.S132F|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.S132F|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000457188.2_Intron	p.S132F	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	1	462	+		Ovarian(137;0.0563)	11			MARVEL.		Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Missense_Mutation	SNP	ENST00000457188.2	37	c.395C>T	CCDS45503.1	.	.	.	.	.	.	.	.	.	.	C	0.103	-1.149365	0.01714	.	.	ENSG00000089505	ENST00000533953;ENST00000379500;ENST00000328020	T;T;T	0.42131	0.98;2.0;1.99	3.93	-1.3	0.09259	.	0.561738	0.18258	N	0.146740	T	0.19248	0.0462	.	.	.	0.24554	N	0.994002	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.21930	-1.0231	9	0.13853	T	0.58	-9.6242	6.1921	0.20530	0.0:0.1108:0.5512:0.3379	.	132;132;132	E9PIL3;Q6PEV5;E9PAX0	.;.;.	F	132	ENSP00000435786:S132F;ENSP00000368814:S132F;ENSP00000330061:S132F	ENSP00000330061:S132F	S	+	2	0	CMTM1	65158312	0.975000	0.34042	0.202000	0.23494	0.068000	0.16541	0.986000	0.29590	-0.262000	0.09392	-0.471000	0.05019	TCC		0.557	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		15	38	0	0	0	1	0	15	38				
USP9X	8239	broad.mit.edu	37	X	40999940	40999940	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:40999940G>A	ENST00000324545.8	+	7	1319	c.686G>A	c.(685-687)gGc>gAc	p.G229D	USP9X_ENST00000378308.2_Missense_Mutation_p.G229D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	229					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AACAAATTTGGCACTTTAAAT	0.318																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(685-687)gGc>gAc		ubiquitin specific peptidase 9, X-linked							112.0	100.0	104.0					X																	40999940		2203	4298	6501	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40999940G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.686G>A	X.37:g.40999940G>A	ENSP00000316357:p.Gly229Asp					USP9X_ENST00000378308.2_Missense_Mutation_p.G229D	p.G229D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			7	1319	+			229					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.686G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735391	0.89482	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.09911	2.94;2.93	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.13980	-1.0489	10	0.66056	D	0.02	.	19.5004	0.95091	0.0:0.0:1.0:0.0	.	229;229	Q93008-1;Q93008	.;USP9X_HUMAN	D	229	ENSP00000367558:G229D;ENSP00000316357:G229D	ENSP00000316357:G229D	G	+	2	0	USP9X	40884884	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.560000	0.86352	0.594000	0.82650	GGC		0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		12	53	0	0	0	1	0	12	53				
SIPA1L3	23094	broad.mit.edu	37	19	38573272	38573272	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:38573272C>T	ENST00000222345.6	+	3	1576	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	356					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			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)			AACGAGGCGGCCGCCAACAGG	0.711																																						ENST00000222345.6																			0				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						c.(1066-1068)gCc>gTc		signal-induced proliferation-associated 1 like 3							27.0	26.0	26.0					19																	38573272		2183	4256	6439	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38573272C>T	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.1067C>T	19.37:g.38573272C>T	ENSP00000222345:p.Ala356Val						p.A356V	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1576	+			356					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.1067C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	c	5.816	0.334895	0.11013	.	.	ENSG00000105738	ENST00000222345	T	0.76186	-1.0	5.04	4.01	0.46588	.	0.145914	0.31772	N	0.007090	T	0.54029	0.1833	N	0.21324	0.655	0.40405	D	0.979688	B	0.22909	0.077	B	0.21546	0.035	T	0.48151	-0.9060	10	0.02654	T	1	-14.044	9.7646	0.40552	0.0:0.831:0.0:0.169	.	356	O60292	SI1L3_HUMAN	V	356	ENSP00000222345:A356V	ENSP00000222345:A356V	A	+	2	0	SIPA1L3	43265112	0.029000	0.19370	0.538000	0.28064	0.973000	0.67179	0.433000	0.21477	1.147000	0.42369	-0.213000	0.12676	GCC		0.711	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		12	35	0	0	0	1	0	12	35				
SLC17A3	10786	broad.mit.edu	37	6	25845731	25845731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:25845731C>T	ENST00000360657.3	-	11	1427	c.1142G>A	c.(1141-1143)gGg>gAg	p.G381E	SLC17A3_ENST00000397060.4_Missense_Mutation_p.G459E|SLC17A3_ENST00000361703.6_Missense_Mutation_p.G381E			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	381					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTCCTCCACCCAAACTCAGG	0.398																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(1375-1377)gGg>gAg		solute carrier family 17 (organic anion transporter), member 3							132.0	121.0	125.0					6																	25845731		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25845731C>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.1142G>A	6.37:g.25845731C>T	ENSP00000353873:p.Gly381Glu					SLC17A3_ENST00000361703.6_Missense_Mutation_p.G381E|SLC17A3_ENST00000360657.3_Missense_Mutation_p.G381E	p.G459E	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			12	1485	-			381					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.1376G>A	CCDS4566.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.98|15.98	2.991591|2.991591	0.54041|0.54041	.|.	.|.	ENSG00000124564|ENSG00000124564	ENST00000505420;ENST00000397060;ENST00000360657;ENST00000361703|ENST00000481949	T;T;T;T|T	0.71579|0.69175	-0.58;-0.49;-0.49;-0.49|-0.38	4.87|4.87	2.96|2.96	0.34315|0.34315	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.282710|0.282710	0.25161|0.25161	N|N	0.032671|0.032671	T|T	0.36771|0.36771	0.0979|0.0979	L|L	0.35542|0.35542	1.07|1.07	0.28887|0.28887	N|N	0.894046|0.894046	P;D|.	0.76494|.	0.589;0.999|.	B;D|.	0.71414|.	0.223;0.973|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|8	0.02654|0.17369	T|T	1|0.5	.|.	11.3791|11.3791	0.49746|0.49746	0.0:0.646:0.354:0.0|0.0:0.646:0.354:0.0	.|.	459;381|.	B7Z511;O00476|.	.;NPT4_HUMAN|.	E|S	12;459;381;381|60	ENSP00000424027:G12E;ENSP00000380250:G459E;ENSP00000353873:G381E;ENSP00000355307:G381E|ENSP00000421855:G60S	ENSP00000353873:G381E|ENSP00000421855:G60S	G|G	-|-	2|1	0|0	SLC17A3|SLC17A3	25953710|25953710	0.451000|0.451000	0.25705|0.25705	0.259000|0.259000	0.24435|0.24435	0.854000|0.854000	0.48673|0.48673	1.980000|1.980000	0.40618|0.40618	0.486000|0.486000	0.27676|0.27676	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.398	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			16	47	0	0	0	1	0	16	47				
LAMC3	10319	broad.mit.edu	37	9	133951341	133951341	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:133951341C>T	ENST00000361069.4	+	21	3751	c.3618C>T	c.(3616-3618)gaC>gaT	p.D1206D	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1206	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCAGCGGGACCTGGAGGACA	0.637																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(3616-3618)gaC>gaT		laminin, gamma 3							35.0	33.0	34.0					9																	133951341		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133951341C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3618C>T	9.37:g.133951341C>T						LAMC3_ENST00000480883.1_Intron	p.D1206D	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	21	3751	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1206			Domain II and I.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.3618C>T	CCDS6938.1																																																																																				0.637	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		6	5	0	0	0	1	0	6	5				
KIF20B	9585	broad.mit.edu	37	10	91483850	91483850	+	Missense_Mutation	SNP	G	G	A	rs371085455		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:91483850G>A	ENST00000371728.3	+	14	1917	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	KIF20B_ENST00000394289.2_Missense_Mutation_p.A618T|KIF20B_ENST00000260753.4_Missense_Mutation_p.A618T|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.A618T	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	618					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)			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						TCAACGGGAAGCTGACTTTAA	0.254																																						ENST00000416354.1																			0				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						c.(1852-1854)Gct>Act		kinesin family member 20B		G	THR/ALA	0,4400		0,0,2200	77.0	89.0	85.0		1852	5.2	1.0	10		85	1,8591	1.2+/-3.3	0,1,4295	no	missense	KIF20B	NM_016195.2	58	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	618/1781	91483850	1,12991	2200	4296	6496	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91483850G>A	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.1852G>A	10.37:g.91483850G>A	ENSP00000360793:p.Ala618Thr					KIF20B_ENST00000394289.2_Missense_Mutation_p.A618T|KIF20B_ENST00000260753.4_Missense_Mutation_p.A618T|KIF20B_ENST00000371728.3_Missense_Mutation_p.A618T|KIF20B_ENST00000478929.1_3'UTR	p.A618T			Q96Q89	KI20B_HUMAN			14	1924	+			618					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.1852G>A		.	.	.	.	.	.	.	.	.	.	G	18.59	3.657766	0.67586	0.0	1.16E-4	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	6.07	5.17	0.71159	.	0.000000	0.51477	D	0.000096	T	0.18215	0.0437	L	0.50919	1.6	0.28545	N	0.911901	B;P	0.36412	0.417;0.552	B;B	0.37650	0.13;0.255	T	0.09707	-1.0662	10	0.22706	T	0.39	-14.4067	6.9571	0.24578	0.174:0.0:0.826:0.0	.	618;618	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	T	618	ENSP00000260753:A618T;ENSP00000411545:A618T;ENSP00000377830:A618T;ENSP00000360793:A618T	ENSP00000260753:A618T	A	+	1	0	KIF20B	91473830	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.200000	0.42724	2.885000	0.99019	0.655000	0.94253	GCT		0.254	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		15	89	0	0	0	1	0	15	89				
ANKHD1	54882	broad.mit.edu	37	5	139907969	139907969	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139907969C>T	ENST00000360839.2	+	29	5592	c.5438C>T	c.(5437-5439)aCt>aTt	p.T1813I	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.T1813I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T1813I|ANKHD1_ENST00000544120.1_Missense_Mutation_p.T196I	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1813						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTCCAACTCTTGTAACT	0.418																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(5437-5439)aCt>aTt		ankyrin repeat and KH domain containing 1							157.0	150.0	153.0					5																	139907969		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139907969C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5438C>T	5.37:g.139907969C>T	ENSP00000354085:p.Thr1813Ile					ANKHD1_ENST00000360839.2_Missense_Mutation_p.T1813I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T1813I|ANKHD1_ENST00000544120.1_Missense_Mutation_p.T196I	p.T1813I	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5562	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5438C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639092	0.29157	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	T;T;T;T;T;T	0.66638	-0.18;-0.22;1.84;1.86;1.43;-0.22	4.99	3.18	0.36537	.	0.605958	0.17847	N	0.160020	T	0.53899	0.1825	N	0.24115	0.695	0.26209	N	0.979322	B;B;B;B;B	0.23058	0.034;0.079;0.079;0.01;0.01	B;B;B;B;B	0.21360	0.024;0.034;0.034;0.021;0.021	T	0.50668	-0.8801	10	0.59425	D	0.04	.	14.978	0.71289	0.0:0.7102:0.2898:0.0	.	196;243;1813;1813;1813	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	I	1813;1813;1813;469;248;335;196;1813	ENSP00000354085:T1813I;ENSP00000297183:T1813I;ENSP00000393204:T469I;ENSP00000390034:T335I;ENSP00000437687:T196I;ENSP00000432016:T1813I	ENSP00000432016:T1813I	T	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139888153	0.976000	0.34144	0.945000	0.38365	0.991000	0.79684	5.690000	0.68241	0.672000	0.31204	0.655000	0.94253	ACT		0.418	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		12	138	0	0	0	1	0	12	138				
RGAG1	57529	broad.mit.edu	37	X	109696387	109696387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:109696387C>T	ENST00000465301.2	+	3	2788	c.2542C>T	c.(2542-2544)Cca>Tca	p.P848S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P848S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	848										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATGTCCATGCCACTAACAAG	0.517																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2542-2544)Cca>Tca		retrotransposon gag domain containing 1							177.0	164.0	168.0					X																	109696387		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109696387C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2542C>T	X.37:g.109696387C>T	ENSP00000419786:p.Pro848Ser					RGAG1_ENST00000540313.1_Missense_Mutation_p.P848S	p.P848S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2788	+			848					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.2542C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	7.395	0.631591	0.14322	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.46063	0.88;0.88	4.02	-0.965	0.10323	.	0.748759	0.10981	N	0.612710	T	0.24122	0.0584	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.17433	0.018	T	0.21518	-1.0243	9	.	.	.	-0.1995	1.578	0.02628	0.1445:0.4363:0.1393:0.2799	.	848	Q8NET4	RGAG1_HUMAN	S	848	ENSP00000419786:P848S;ENSP00000441452:P848S	.	P	+	1	0	RGAG1	109583043	0.000000	0.05858	0.000000	0.03702	0.456000	0.32438	-0.520000	0.06252	-0.374000	0.07967	0.513000	0.50165	CCA		0.517	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		76	166	0	0	0	1	0	76	166				
ANKZF1	55139	broad.mit.edu	37	2	220097877	220097877	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220097877C>T	ENST00000323348.5	+	6	809	c.635C>T	c.(634-636)gCt>gTt	p.A212V	ANKZF1_ENST00000410034.3_Missense_Mutation_p.A212V|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A2V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	212						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCTCATGGCTGCAGCTGGG	0.552																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(634-636)gCt>gTt		ankyrin repeat and zinc finger domain containing 1							177.0	183.0	181.0					2																	220097877		2045	4203	6248	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220097877C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.635C>T	2.37:g.220097877C>T	ENSP00000321617:p.Ala212Val					ANKZF1_ENST00000409849.1_Missense_Mutation_p.A2V|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A212V	p.A212V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	809	+		Renal(207;0.0474)	212					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.635C>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442268	0.63067	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.24538	1.85;1.95;1.85	5.28	5.28	0.74379	.	0.195534	0.53938	D	0.000044	T	0.31295	0.0792	L	0.37630	1.12	0.43745	D	0.996245	D;D;D	0.65815	0.995;0.962;0.991	P;P;P	0.61940	0.896;0.568;0.79	T	0.03403	-1.1040	10	0.02654	T	1	-12.1342	12.8398	0.57794	0.0:0.916:0.0:0.084	.	156;2;212	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	V	212;2;212	ENSP00000321617:A212V;ENSP00000386815:A2V;ENSP00000386337:A212V	ENSP00000321617:A212V	A	+	2	0	ANKZF1	219806121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.011000	0.64011	2.756000	0.94617	0.655000	0.94253	GCT		0.552	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		14	179	0	0	0	1	0	14	179				
TBC1D19	55296	broad.mit.edu	37	4	26661321	26661321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:26661321C>T	ENST00000264866.4	+	8	861	c.583C>T	c.(583-585)Cct>Tct	p.P195S	TBC1D19_ENST00000511789.1_Missense_Mutation_p.P130S|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	195							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AAAAGACATCCCTGAATTGGT	0.294																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(583-585)Cct>Tct		TBC1 domain family, member 19							48.0	48.0	48.0					4																	26661321		2203	4292	6495	SO:0001583	missense	55296					intracellular	Rab GTPase activator activity	g.chr4:26661321C>T	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.583C>T	4.37:g.26661321C>T	ENSP00000264866:p.Pro195Ser					TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Missense_Mutation_p.P130S	p.P195S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			8	861	+		Breast(46;0.0503)	195					B9A6M0|Q9NUX1	Missense_Mutation	SNP	ENST00000264866.4	37	c.583C>T	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	C	6.001	0.368532	0.11352	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000505206;ENST00000511789	T;T;T;T	0.42131	0.98;1.54;0.98;1.55	5.05	4.0	0.46444	.	0.167478	0.53938	D	0.000051	T	0.30198	0.0757	L	0.41236	1.265	0.53688	D	0.999976	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.08126	-1.0737	10	0.07030	T	0.85	-14.4414	13.292	0.60276	0.0:0.9052:0.0:0.0948	.	130;195;195	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	S	164;195;130;130	ENSP00000427033:P164S;ENSP00000264866:P195S;ENSP00000423097:P130S;ENSP00000425569:P130S	ENSP00000264866:P195S	P	+	1	0	TBC1D19	26270419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.359000	0.52292	2.325000	0.78763	0.557000	0.71058	CCT		0.294	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		15	33	0	0	0	1	0	15	33				
SRGAP3	9901	broad.mit.edu	37	3	9055174	9055174	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9055174C>T	ENST00000383836.3	-	17	2392	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Silent_p.L631L|SRGAP3_ENST00000433332.3_5'Flank	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	655	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGCAGATGGCCAGGTTGTAGG	0.542			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1963-1965)ctG>ctA		SLIT-ROBO Rho GTPase activating protein 3							116.0	105.0	109.0					3																	9055174		2203	4300	6503	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055174C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1965G>A	3.37:g.9055174C>T						SRGAP3_ENST00000360413.3_Silent_p.L631L	p.L655L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2392	-			655			Rho-GAP.		Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.1965G>A	CCDS2572.1																																																																																				0.542	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			3	33	0	0	0	1	0	3	33				
DYRK3	8444	broad.mit.edu	37	1	206822210	206822210	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:206822210C>T	ENST00000367109.2	+	3	1835	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L	DYRK3_ENST00000367108.3_Missense_Mutation_p.P536L|DYRK3_ENST00000367106.1_Missense_Mutation_p.P536L|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	556					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTAAGCTGCCTCCAGTTGTT	0.453																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1606-1608)cCt>cTt		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							91.0	81.0	84.0					1																	206822210		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206822210C>T	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1667C>T	1.37:g.206822210C>T	ENSP00000356076:p.Pro556Leu					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.P536L|DYRK3_ENST00000367109.2_Missense_Mutation_p.P556L	p.P536L			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	2080	+	Breast(84;0.183)		556					D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1607C>T	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124488	0.56613	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.70399	-0.48;-0.48;-0.48	5.44	4.54	0.55810	.	0.103196	0.64402	D	0.000003	T	0.79082	0.4386	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.64830	0.994;0.991	P;D	0.65010	0.905;0.931	T	0.81357	-0.0969	10	0.87932	D	0	.	13.3952	0.60849	0.0:0.9251:0.0:0.0749	.	556;536	O43781;O43781-2	DYRK3_HUMAN;.	L	556;536;536	ENSP00000356076:P556L;ENSP00000356075:P536L;ENSP00000356073:P536L	ENSP00000356073:P536L	P	+	2	0	DYRK3	204888833	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.725000	0.68507	1.543000	0.49345	-0.142000	0.14014	CCT		0.453	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		4	66	0	0	0	1	0	4	66				
TRRAP	8295	broad.mit.edu	37	7	98574195	98574195	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:98574195G>A	ENST00000359863.4	+	54	8237	c.8028G>A	c.(8026-8028)gtG>gtA	p.V2676V	TRRAP_ENST00000446306.3_Silent_p.V2658V|TRRAP_ENST00000355540.3_Silent_p.V2658V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2676					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)			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)			ACTGCTTTGTGGAAGCCATGT	0.602																																						ENST00000359863.4																			0				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						c.(8026-8028)gtG>gtA		transformation/transcription domain-associated protein							72.0	66.0	68.0					7																	98574195		2203	4299	6502	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98574195G>A	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.8028G>A	7.37:g.98574195G>A						TRRAP_ENST00000355540.3_Silent_p.V2658V|TRRAP_ENST00000446306.3_Silent_p.V2658V	p.V2676V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		54	8237	+	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)		2676					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.8028G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165243	0.21538	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.92	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7582	0.51888	0.0663:0.1243:0.8095:0.0	.	.	.	.	X	2398	.	.	W	+	2	0	TRRAP	98412131	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	4.617000	0.61204	0.834000	0.34852	0.561000	0.74099	TGG		0.602	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		21	58	0	0	0	1	0	21	58				
NALCN	259232	broad.mit.edu	37	13	101756991	101756991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:101756991C>T	ENST00000251127.6	-	24	2728	c.2647G>A	c.(2647-2649)Gga>Aga	p.G883R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	883					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)			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)					GTGACCAATCCCAGCAAATCA	0.448																																						ENST00000251127.6																			0				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						c.(2647-2649)Gga>Aga		sodium leak channel, non-selective							137.0	119.0	125.0					13																	101756991		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101756991C>T	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.2647G>A	13.37:g.101756991C>T	ENSP00000251127:p.Gly883Arg						p.G883R	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			24	2728	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		883					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2647G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944137	0.92593	.	.	ENSG00000102452	ENST00000251127	D	0.97665	-4.48	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98897	1.0775	10	0.66056	D	0.02	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	883	Q8IZF0	NALCN_HUMAN	R	883	ENSP00000251127:G883R	ENSP00000251127:G883R	G	-	1	0	NALCN	100554992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.625000	0.83145	2.780000	0.95670	0.655000	0.94253	GGA		0.448	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		12	42	0	0	0	1	0	12	42				
ZDBF2	57683	broad.mit.edu	37	2	207175003	207175003	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:207175003C>T	ENST00000374423.3	+	5	6137	c.5751C>T	c.(5749-5751)tgC>tgT	p.C1917C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1917							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAAACCATGCCATCGTCATC	0.478																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5749-5751)tgC>tgT		zinc finger, DBF-type containing 2							62.0	62.0	62.0					2																	207175003		2012	4176	6188	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207175003C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5751C>T	2.37:g.207175003C>T							p.C1917C	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	6137	+			1917					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.5751C>T	CCDS46501.1																																																																																				0.478	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		12	59	0	0	0	1	0	12	59				
LAMB1	3912	broad.mit.edu	37	7	107642012	107642012	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:107642012G>A	ENST00000222399.6	-	3	434	c.204C>T	c.(202-204)agC>agT	p.S68S	LAMB1_ENST00000393560.1_Silent_p.S68S|U3_ENST00000458938.1_RNA|LAMB1_ENST00000393561.1_Silent_p.S92S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	68	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CCTGCAAGTGGCTGACGATAC	0.652																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(274-276)agC>agT		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						23.0	23.0	23.0					7																	107642012		2202	4300	6502	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107642012G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.204C>T	7.37:g.107642012G>A						LAMB1_ENST00000393560.1_Silent_p.S68S|LAMB1_ENST00000222399.6_Silent_p.S68S	p.S92S			P07942	LAMB1_HUMAN			1	460	-			68			Laminin N-terminal.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.276C>T	CCDS5750.1																																																																																				0.652	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		6	16	0	0	0	1	0	6	16				
BTAF1	9044	broad.mit.edu	37	10	93726473	93726473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:93726473G>A	ENST00000265990.6	+	14	1917	c.1609G>A	c.(1609-1611)Gca>Aca	p.A537T	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	537					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCGAAGAGCAGCATTGGAAAC	0.328																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(1609-1611)Gca>Aca		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							163.0	149.0	154.0					10																	93726473		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93726473G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1609G>A	10.37:g.93726473G>A	ENSP00000265990:p.Ala537Thr					BTAF1_ENST00000471217.1_3'UTR	p.A537T	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			14	1917	+		Colorectal(252;0.0846)	537					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.1609G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932709	0.34096	.	.	ENSG00000095564	ENST00000265990	T	0.75154	-0.91	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.102329	0.64402	D	0.000002	T	0.61739	0.2371	L	0.28115	0.83	0.80722	D	1	B	0.32425	0.371	B	0.31946	0.138	T	0.60717	-0.7208	10	0.02654	T	1	-1.1371	19.8827	0.96904	0.0:0.0:1.0:0.0	.	537	O14981	BTAF1_HUMAN	T	537	ENSP00000265990:A537T	ENSP00000265990:A537T	A	+	1	0	BTAF1	93716453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.843000	0.99491	2.702000	0.92279	0.650000	0.86243	GCA		0.328	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		18	82	0	0	0	1	0	18	82				
FAM134B	54463	broad.mit.edu	37	5	16475174	16475174	+	Silent	SNP	C	C	T	rs369353830		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16475174C>T	ENST00000306320.9	-	9	1256	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM134B_ENST00000399793.2_Silent_p.T249T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	390					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTGCTGATTGCGTCTCTTTGC	0.493																																						ENST00000306320.9																			0				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						c.(1168-1170)acG>acA		family with sequence similarity 134, member B		C	,	1,3993		0,1,1996	176.0	174.0	174.0		1170,747	2.5	0.0	5		174	0,8360		0,0,4180	no	coding-synonymous,coding-synonymous	FAM134B	NM_001034850.1,NM_019000.3	,	0,1,6176	TT,TC,CC		0.0,0.025,0.0081	,	390/498,249/357	16475174	1,12353	1997	4180	6177	SO:0001819	synonymous_variant	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16475174C>T	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.1170G>A	5.37:g.16475174C>T						FAM134B_ENST00000399793.2_Silent_p.T249T	p.T390T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN			9	1256	-			390					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Silent	SNP	ENST00000306320.9	37	c.1170G>A	CCDS43304.1																																																																																				0.493	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		20	41	0	0	0	1	0	20	41				
ITSN1	6453	broad.mit.edu	37	21	35190669	35190669	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:35190669C>T	ENST00000381318.3	+	23	3114	c.2826C>T	c.(2824-2826)gtC>gtT	p.V942V	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.V937V|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399326.3_Silent_p.V937V|ITSN1_ENST00000399353.1_Silent_p.V900V|ITSN1_ENST00000381285.4_Silent_p.V942V|ITSN1_ENST00000399349.1_Silent_p.V937V|ITSN1_ENST00000399352.1_Silent_p.V937V|ITSN1_ENST00000399367.3_Silent_p.V937V|ITSN1_ENST00000381291.4_Silent_p.V942V|ITSN1_ENST00000399355.2_Silent_p.V942V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	942	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCATCACCGTCCTGGAACAGC	0.453																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2824-2826)gtC>gtT		intersectin 1 (SH3 domain protein)							176.0	169.0	171.0					21																	35190669		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35190669C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2826C>T	21.37:g.35190669C>T						ITSN1_ENST00000381291.4_Silent_p.V942V|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399326.3_Silent_p.V937V|ITSN1_ENST00000381285.4_Silent_p.V942V|ITSN1_ENST00000399353.1_Silent_p.V900V|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.V937V|ITSN1_ENST00000399355.2_Silent_p.V942V|ITSN1_ENST00000399349.1_Silent_p.V937V|ITSN1_ENST00000399367.3_Silent_p.V937V|ITSN1_ENST00000399352.1_Silent_p.V937V	p.V942V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			23	3114	+			942			SH3 2.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.2826C>T	CCDS33545.1																																																																																				0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		4	154	0	0	0	1	0	4	154				
LARP1	23367	broad.mit.edu	37	5	154179587	154179587	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:154179587C>T	ENST00000336314.4	+	10	1494	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	567					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCGGCCATCCCCAGCACGGC	0.567																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1468-1470)tcC>tcT		La ribonucleoprotein domain family, member 1							48.0	47.0	48.0					5																	154179587		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154179587C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1470C>T	5.37:g.154179587C>T							p.S490S	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		10	1494	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	567					O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.1470C>T	CCDS4328.1																																																																																				0.567	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		3	22	0	0	0	1	0	3	22				
HTR1B	3351	broad.mit.edu	37	6	78172230	78172230	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:78172230G>A	ENST00000369947.2	-	1	1260	c.891C>T	c.(889-891)gcC>gcT	p.A297A		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	297					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TTTCCAGCAGGGCGTCGGAGA	0.547																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(889-891)gcC>gcT		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						164.0	175.0	171.0					6																	78172230		2203	4300	6503	SO:0001819	synonymous_variant	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172230G>A	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.891C>T	6.37:g.78172230G>A							p.A297A	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	1260	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	297					Q4VAY7	Silent	SNP	ENST00000369947.2	37	c.891C>T	CCDS4986.1																																																																																				0.547	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		8	200	0	0	0	1	0	8	200				
IGF2BP1	10642	broad.mit.edu	37	17	47103879	47103879	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:47103879G>A	ENST00000290341.3	+	4	671	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Splice_Site_p.V113M	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	113	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTGTGAGCAAGGTAAGAGTGG	0.517																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.e4+1		insulin-like growth factor 2 mRNA binding protein 1							122.0	109.0	113.0					17																	47103879		2203	4300	6503	SO:0001630	splice_region_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47103879G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.337+1G>A	17.37:g.47103879G>A						IGF2BP1_ENST00000431824.2_Splice_Site_p.V113_splice|IGF2BP1_ENST00000515586.1_3'UTR	p.V113_splice	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			4	671	+			113			RRM 2.		C9JT33	Splice_Site	SNP	ENST00000290341.3	37	c.337_splice	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566772	0.86439	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.18174	2.23;3.31	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	M	0.74546	2.27	0.43924	D	0.996574	P;D	0.89917	0.718;1.0	B;D	0.79108	0.296;0.992	T	0.30592	-0.9973	10	0.72032	D	0.01	-18.1457	16.5604	0.84551	0.0:0.0:1.0:0.0	.	113;113	C9JT33;Q9NZI8	.;IF2B1_HUMAN	M	113	ENSP00000290341:V113M;ENSP00000389135:V113M	ENSP00000290341:V113M	V	+	1	0	IGF2BP1	44458878	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.859000	0.75467	2.683000	0.91414	0.655000	0.94253	GTG		0.517	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	Missense_Mutation	3	56	0	0	0	1	0	3	56				
TMEM132B	114795	broad.mit.edu	37	12	126138694	126138694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:126138694G>A	ENST00000299308.3	+	9	2683	c.2675G>A	c.(2674-2676)aGg>aAg	p.R892K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R404K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	892						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGACCTCAAGGGGGCTAACG	0.512																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2674-2676)aGg>aAg		transmembrane protein 132B							83.0	80.0	81.0					12																	126138694		1982	4166	6148	SO:0001583	missense	114795					integral to membrane		g.chr12:126138694G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2675G>A	12.37:g.126138694G>A	ENSP00000299308:p.Arg892Lys					TMEM132B_ENST00000535886.1_Missense_Mutation_p.R404K	p.R892K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2683	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		892					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2675G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685133	0.68157	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.23348	1.91;1.91	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.32971	0.0847	L	0.33339	1.005	0.58432	D	0.999997	P	0.51537	0.946	P	0.52646	0.705	T	0.01178	-1.1427	10	0.27785	T	0.31	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	892	Q14DG7	T132B_HUMAN	K	892;404	ENSP00000299308:R892K;ENSP00000440436:R404K	ENSP00000299308:R892K	R	+	2	0	TMEM132B	124704647	1.000000	0.71417	0.983000	0.44433	0.815000	0.46073	7.300000	0.78841	2.543000	0.85770	0.655000	0.94253	AGG		0.512	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		24	90	0	0	0	1	0	24	90				
DBF4	10926	broad.mit.edu	37	7	87514474	87514474	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:87514474G>A	ENST00000265728.1	+	3	903		c.e3+1			NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger						DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACCAGACACAGTAAGTCTCTT	0.408																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.e3+1		DBF4 homolog (S. cerevisiae)							74.0	70.0	71.0					7																	87514474		2203	4300	6503	SO:0001630	splice_region_variant	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87514474G>A	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.399+1G>A	7.37:g.87514474G>A								NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			3	903	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)						A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Splice_Site	SNP	ENST00000265728.1	37		CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783135	0.70222	.	.	ENSG00000006634	ENST00000265728	.	.	.	5.57	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8573	0.70347	0.0:0.0:0.8553:0.1447	.	.	.	.	.	-1	.	.	.	+	.	.	DBF4	87352410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.537000	0.73847	1.336000	0.45506	0.591000	0.81541	.		0.408	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	Intron	17	85	0	0	0	1	0	17	85				
MXI1	4601	broad.mit.edu	37	10	111987946	111987946	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:111987946G>A	ENST00000239007.7	+	2	291		c.e2-1		MXI1_ENST00000332674.5_Splice_Site|MXI1_ENST00000393134.1_Splice_Site|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000369612.1_Splice_Site|MXI1_ENST00000361248.4_Splice_Site	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein						cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GCTTTCTTCAGAGTGTGAACA	0.488																																						ENST00000332674.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10						c.e2-1		MAX interactor 1, dimerization protein							76.0	79.0	78.0					10																	111987946		2203	4300	6503	SO:0001630	splice_region_variant	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:111987946G>A	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.74-1G>A	10.37:g.111987946G>A						MXI1_ENST00000361248.4_Splice_Site|MXI1_ENST00000239007.7_Splice_Site|MXI1_ENST00000393134.1_Splice_Site|MXI1_ENST00000369612.1_Splice_Site|MXI1_ENST00000485566.1_3'UTR		NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	2	478	+		Breast(234;0.052)|Lung NSC(174;0.223)						B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Splice_Site	SNP	ENST00000239007.7	37		CCDS7564.2	.	.	.	.	.	.	.	.	.	.	g	16.38	3.106109	0.56291	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000239007;ENST00000369619;ENST00000393134	.	.	.	4.65	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9963	0.47578	0.0875:0.0:0.9125:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MXI1	111977936	1.000000	0.71417	0.965000	0.40720	0.887000	0.51463	6.015000	0.70791	0.938000	0.37419	0.443000	0.29094	.		0.488	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439	Intron	29	50	0	0	0	1	0	29	50				
ABCC12	94160	broad.mit.edu	37	16	48177964	48177964	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:48177964G>A	ENST00000311303.3	-	2	477	c.132C>T	c.(130-132)aaC>aaT	p.N44N	ABCC12_ENST00000448542.1_Silent_p.N44N|ABCC12_ENST00000416054.1_Silent_p.N44N	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	44						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CATCCACCGGGTTGGGTGCTA	0.557																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(130-132)aaC>aaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							76.0	69.0	71.0					16																	48177964		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48177964G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.132C>T	16.37:g.48177964G>A						ABCC12_ENST00000416054.1_Silent_p.N44N|ABCC12_ENST00000448542.1_Silent_p.N44N	p.N44N	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			2	477	-		all_cancers(37;0.0474)|all_lung(18;0.047)	44					Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.132C>T	CCDS10730.1																																																																																				0.557	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		15	28	0	0	0	1	0	15	28				
P2RX5	5026	broad.mit.edu	37	17	3583061	3583061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3583061G>A	ENST00000225328.5	-	11	1480	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	P2RX5_ENST00000547178.1_Missense_Mutation_p.S360F|P2RX5_ENST00000552276.1_Missense_Mutation_p.S360F|P2RX5_ENST00000551178.1_Missense_Mutation_p.S336F|P2RX5_ENST00000552050.1_Missense_Mutation_p.S301F|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.S361F|P2RX5_ENST00000435558.1_Missense_Mutation_p.S361F|P2RX5_ENST00000345901.3_Missense_Mutation_p.S337F	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	361					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGCCTCCTGGGAACTGTCTTC	0.647																																						ENST00000550383.1																			0											c.(1081-1083)tCc>tTc									42.0	40.0	41.0					17																	3583061		2203	4300	6503	SO:0001583	missense	0							g.chr17:3583061G>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.1082C>T	17.37:g.3583061G>A	ENSP00000225328:p.Ser361Phe					P2RX5_ENST00000551178.1_Missense_Mutation_p.S336F|P2RX5_ENST00000547178.1_Missense_Mutation_p.S360F|P2RX5_ENST00000552276.1_Missense_Mutation_p.S360F|P2RX5_ENST00000552050.1_Missense_Mutation_p.S301F|P2RX5_ENST00000435558.1_Missense_Mutation_p.S361F|P2RX5_ENST00000225328.5_Missense_Mutation_p.S361F|P2RX5_ENST00000345901.3_Missense_Mutation_p.S337F	p.S361F							11	1270	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.1082C>T	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	G	6.998	0.554266	0.13374	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050	T;T;T;T;T;T	0.04502	3.61;3.61;3.61;3.61;3.61;3.61	3.01	0.971	0.19698	.	13.968400	0.00166	N	0.000000	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.30686	0.29;0.246;0.246;0.246;0.29;0.246	B;B;B;B;B;B	0.25614	0.043;0.037;0.037;0.037;0.062;0.037	T	0.34204	-0.9838	10	0.59425	D	0.04	-16.3435	3.5464	0.07829	0.2514:0.2125:0.5361:0.0	.	301;337;360;336;361;361	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	F	361;336;360;361;337;301	ENSP00000415370:S361F;ENSP00000447545:S336F;ENSP00000448355:S360F;ENSP00000225328:S361F;ENSP00000342161:S337F;ENSP00000450006:S301F	ENSP00000225328:S361F	S	-	2	0	P2RX5	3529810	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.468000	0.22051	0.193000	0.20303	-0.432000	0.05891	TCC		0.647	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		6	14	0	0	0	1	0	6	14				
SORL1	6653	broad.mit.edu	37	11	121393330	121393330	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:121393330C>T	ENST00000260197.7	+	10	1569	c.1440C>T	c.(1438-1440)cgC>cgT	p.R480R	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	480					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGCTCAGCGCCTCAGTCAGC	0.557																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(1438-1440)cgC>cgT		sortilin-related receptor, L(DLR class) A repeats containing							180.0	160.0	167.0					11																	121393330		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121393330C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1440C>T	11.37:g.121393330C>T						SORL1_ENST00000532451.1_3'UTR	p.R480R	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	10	1569	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	480					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.1440C>T	CCDS8436.1																																																																																				0.557	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		17	155	0	0	0	1	0	17	155				
CD34	947	broad.mit.edu	37	1	208062168	208062168	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:208062168C>T	ENST00000310833.7	-	7	1152	c.831G>A	c.(829-831)gaG>gaA	p.E277E	CD34_ENST00000367036.3_Silent_p.E119E|CD34_ENST00000537704.1_Silent_p.E142E|CD34_ENST00000356522.4_Silent_p.E277E|CD34_ENST00000485761.1_5'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	277					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CAACATCTTGCTCAGTGAAAT	0.532																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(829-831)gaG>gaA		CD34 molecule							151.0	158.0	156.0					1																	208062168		2203	4300	6503	SO:0001819	synonymous_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062168C>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.831G>A	1.37:g.208062168C>T						CD34_ENST00000367036.3_Silent_p.E119E|CD34_ENST00000310833.7_Silent_p.E277E|CD34_ENST00000537704.1_Silent_p.E142E|CD34_ENST00000485761.1_5'UTR	p.E277E	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			7	1152	-			277					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	ENST00000310833.7	37	c.831G>A	CCDS31011.1																																																																																				0.532	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		61	156	0	0	0	1	0	61	156				
ABCA6	23460	broad.mit.edu	37	17	67087325	67087325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:67087325G>A	ENST00000284425.2	-	26	3661	c.3487C>T	c.(3487-3489)Cct>Tct	p.P1163S	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1163					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GTATATGAAGGAACCAATACC	0.323																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3487-3489)Cct>Tct		ATP-binding cassette, sub-family A (ABC1), member 6							84.0	79.0	81.0					17																	67087325		2203	4298	6501	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67087325G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3487C>T	17.37:g.67087325G>A	ENSP00000284425:p.Pro1163Ser					ABCA6_ENST00000446604.2_5'UTR	p.P1163S	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			26	3661	-	Breast(10;5.65e-12)		1163					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.3487C>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477859	0.63849	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.97994	-4.65	4.63	4.63	0.57726	.	0.120924	0.37219	N	0.002186	D	0.98507	0.9502	M	0.84326	2.69	0.80722	D	1	D	0.58620	0.983	D	0.70487	0.969	D	0.98389	1.0562	10	0.87932	D	0	.	13.283	0.60226	0.0:0.0:1.0:0.0	.	1163	Q8N139	ABCA6_HUMAN	S	1163;23	ENSP00000284425:P1163S	ENSP00000284425:P1163S	P	-	1	0	ABCA6	64598920	0.977000	0.34250	0.430000	0.26722	0.195000	0.23768	4.045000	0.57368	2.850000	0.98022	0.655000	0.94253	CCT		0.323	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		7	34	0	0	0	1	0	7	34				
MED28	80306	broad.mit.edu	37	4	17625374	17625374	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:17625374C>T	ENST00000237380.7	+	4	514	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	164					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						CTTGGCCTACCTGGAGCAGGC	0.587																																						ENST00000237380.6																			0				lung(6)|skin(2)	8						c.(490-492)Ctg>Ttg		mediator complex subunit 28							46.0	37.0	40.0					4																	17625374		2203	4300	6503	SO:0001819	synonymous_variant	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17625374C>T	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.490C>T	4.37:g.17625374C>T							p.L164L	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN			4	514	+			164					Q9BZJ5	Silent	SNP	ENST00000237380.7	37	c.490C>T	CCDS33963.1																																																																																				0.587	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		12	25	0	0	0	1	0	12	25				
ZNF600	162966	broad.mit.edu	37	19	53269404	53269404	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:53269404G>A	ENST00000338230.3	-	3	1872	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACCTCTGACTGAAGGTCTTGC	0.473																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1603-1605)ttC>ttT		zinc finger protein 600							225.0	200.0	208.0					19																	53269404		2203	4300	6503	SO:0001819	synonymous_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269404G>A	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1605C>T	19.37:g.53269404G>A							p.F535F	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1872	-			535					Q6MZR0	Silent	SNP	ENST00000338230.3	37	c.1605C>T	CCDS12856.1																																																																																				0.473	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		17	276	0	0	0	1	0	17	276				
TRIP11	9321	broad.mit.edu	37	14	92472251	92472251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:92472251C>T	ENST00000267622.4	-	11	2442	c.2069G>A	c.(2068-2070)aGg>aAg	p.R690K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	690					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAACTGATGCCTCACATCTTC	0.333			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2068-2070)aGg>aAg		thyroid hormone receptor interactor 11							78.0	82.0	80.0					14																	92472251		2203	4298	6501	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472251C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2069G>A	14.37:g.92472251C>T	ENSP00000267622:p.Arg690Lys						p.R690K	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2442	-			690					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2069G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.682247	0.00101	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.03553	3.89	5.92	0.355	0.16069	.	0.280861	0.40064	N	0.001193	T	0.01523	0.0049	N	0.11927	0.2	0.18873	N	0.999989	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.47420	-0.9119	10	0.05620	T	0.96	.	3.8352	0.08891	0.1806:0.2817:0.0:0.5377	.	426;690	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	690;426	ENSP00000267622:R690K	ENSP00000267622:R690K	R	-	2	0	TRIP11	91542004	0.983000	0.35010	0.026000	0.17262	0.001000	0.01503	1.478000	0.35442	0.133000	0.18654	-0.896000	0.02909	AGG		0.333	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			6	96	0	0	0	1	0	6	96				
PTCD1	26024	broad.mit.edu	37	7	99032654	99032654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99032654C>T	ENST00000292478.4	-	2	462	c.212G>A	c.(211-213)aGc>aAc	p.S71N	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.S120N|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000485746.1_5'Flank|PTCD1_ENST00000555673.1_Missense_Mutation_p.S120N	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	71					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			GTTGGAGTGGCTCGGGTCAGA	0.617																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(211-213)aGc>aAc		pentatricopeptide repeat domain 1							42.0	44.0	43.0					7																	99032654		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99032654C>T	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.212G>A	7.37:g.99032654C>T	ENSP00000292478:p.Ser71Asn					PTCD1_ENST00000555673.1_Missense_Mutation_p.S120N|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.S120N	p.S71N	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	462	-	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)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.212G>A	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118676	0.37436	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000413834	T;T;D;D;D;T	0.87491	-0.42;-0.39;-2.03;-2.02;-2.26;-0.39	5.84	4.06	0.47325	.	0.442460	0.24698	N	0.036328	T	0.79446	0.4447	L	0.37561	1.115	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.003	T	0.61068	-0.7137	10	0.16420	T	0.52	-7.7207	10.9061	0.47081	0.0:0.8528:0.0:0.1472	.	120;71	G3V325;O75127	.;PTCD1_HUMAN	N	71;120;71;71;71;120	ENSP00000292478:S71N;ENSP00000450995:S120N;ENSP00000390530:S71N;ENSP00000408059:S71N;ENSP00000401600:S71N;ENSP00000400168:S120N	ENSP00000400168:S120N	S	-	2	0	ATP5J2-PTCD1;PTCD1	98870590	0.004000	0.15560	0.259000	0.24435	0.022000	0.10575	0.322000	0.19576	0.829000	0.34733	-0.244000	0.11960	AGC		0.617	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		4	95	0	0	0	1	0	4	95				
MAGEA11	4110	broad.mit.edu	37	X	148797675	148797675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:148797675G>A	ENST00000355220.5	+	5	631	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E148K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	177						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGTCCTCAGGAAGAGTCCTT	0.567																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(529-531)Gaa>Aaa		melanoma antigen family A, 11							60.0	53.0	55.0					X																	148797675		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797675G>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.529G>A	X.37:g.148797675G>A	ENSP00000347358:p.Glu177Lys					MAGEA11_ENST00000333104.4_Missense_Mutation_p.E148K	p.E177K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	631	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		177					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.529G>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	4.131	0.022658	0.08006	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.04360	3.64;3.64;3.64	0.871	0.871	0.19107	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.02267	0.0070	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47086	-0.9144	8	0.27082	T	0.32	.	.	.	.	.	148;177	G5E962;P43364	.;MAGAB_HUMAN	K	148;148;177	ENSP00000391496:E148K;ENSP00000328177:E148K;ENSP00000347358:E177K	ENSP00000328177:E148K	E	+	1	0	MAGEA11	148576730	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-0.539000	0.06113	0.704000	0.31869	0.429000	0.28392	GAA		0.567	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		5	45	0	0	0	1	0	5	45				
RLTPR	146206	broad.mit.edu	37	16	67681038	67681038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67681038G>A	ENST00000334583.6	+	9	959	c.631G>A	c.(631-633)Gct>Act	p.A211T	RLTPR_ENST00000545661.1_Missense_Mutation_p.A211T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	211					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTTGAGTGTGGCTGCCCTGTC	0.657																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(631-633)Gct>Act		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							39.0	43.0	42.0					16																	67681038		2017	4191	6208	SO:0001583	missense	146206							g.chr16:67681038G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.631G>A	16.37:g.67681038G>A	ENSP00000334958:p.Ala211Thr					RLTPR_ENST00000545661.1_Missense_Mutation_p.A211T	p.A211T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	9	959	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	211					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.631G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984471	0.93044	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.53423	0.62;0.62	5.32	5.32	0.75619	.	0.124988	0.52532	D	0.000070	T	0.63390	0.2507	L	0.60067	1.865	0.31674	N	0.643974	D;D	0.89917	1.0;0.988	D;P	0.64144	0.922;0.868	T	0.67015	-0.5777	10	0.41790	T	0.15	-22.5718	17.1785	0.86848	0.0:0.0:1.0:0.0	.	211;211	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	T	211	ENSP00000334958:A211T;ENSP00000441481:A211T	ENSP00000334958:A211T	A	+	1	0	RLTPR	66238539	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.620000	0.61226	2.486000	0.83907	0.563000	0.77884	GCT		0.657	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		8	54	0	0	0	1	0	8	54				
GDF15	9518	broad.mit.edu	37	19	18499488	18499488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18499488G>A	ENST00000252809.3	+	2	702	c.670G>A	c.(670-672)Ggc>Agc	p.G224S	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	224					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GGAAGACCTGGGCTGGGCCGA	0.716											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595973.1																			0				kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						c.(670-672)Ggc>Agc		growth differentiation factor 15							16.0	19.0	18.0					19																	18499488		2178	4264	6442	SO:0001583	missense	9518				cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr19:18499488G>A	BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.670G>A	19.37:g.18499488G>A	ENSP00000252809:p.Gly224Ser		OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	726	GDF15_ENST00000252809.3_Missense_Mutation_p.G224S	p.G224S			Q99988	GDF15_HUMAN			3	1221	+			224					O14629|P78360|Q9BWA0|Q9NRT0	Missense_Mutation	SNP	ENST00000252809.3	37	c.670G>A	CCDS12376.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246335	0.80024	.	.	ENSG00000130513	ENST00000252809	D	0.90261	-2.64	4.33	4.33	0.51752	Transforming growth factor-beta, C-terminal (3);	0.159818	0.39834	N	0.001244	D	0.95822	0.8640	M	0.91612	3.225	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96399	0.9295	10	0.87932	D	0	-23.0777	12.319	0.54973	0.0:0.0:1.0:0.0	.	224	Q99988	GDF15_HUMAN	S	224	ENSP00000252809:G224S	ENSP00000252809:G224S	G	+	1	0	GDF15	18360488	1.000000	0.71417	0.970000	0.41538	0.243000	0.25628	6.552000	0.73914	1.988000	0.58038	0.313000	0.20887	GGC		0.716	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		13	23	0	0	0	1	0	13	23				
SLC17A5	26503	broad.mit.edu	37	6	74325110	74325110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:74325110G>A	ENST00000355773.5	-	8	1307	c.1039C>T	c.(1039-1041)Caa>Taa	p.Q347*	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	347					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGCAGCTTGACCAGACAGG	0.358																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1039-1041)Caa>Taa		solute carrier family 17 (acidic sugar transporter), member 5							103.0	97.0	99.0					6																	74325110		2203	4300	6503	SO:0001587	stop_gained	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74325110G>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1039C>T	6.37:g.74325110G>A	ENSP00000348019:p.Gln347*					SLC17A5_ENST00000393019.3_3'UTR	p.Q347*	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			8	1307	-			347					Q5SZ76|Q8NBR5|Q9UGH0	Nonsense_Mutation	SNP	ENST00000355773.5	37	c.1039C>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	38	7.273657	0.98179	.	.	ENSG00000119899	ENST00000355773	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	13.6463	0.62283	0.0:0.1552:0.8448:0.0	.	.	.	.	X	347	.	ENSP00000348019:Q347X	Q	-	1	0	SLC17A5	74381831	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.754000	0.74909	2.221000	0.72209	0.561000	0.74099	CAA		0.358	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			6	49	0	0	0	1	0	6	49				
ALPK3	57538	broad.mit.edu	37	15	85384027	85384027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85384027C>T	ENST00000258888.5	+	5	2290	c.2123C>T	c.(2122-2124)cCa>cTa	p.P708L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	708					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTCAAGCTCCAGAATGCGGG	0.617																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2122-2124)cCa>cTa		alpha-kinase 3							43.0	44.0	43.0					15																	85384027		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85384027C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2123C>T	15.37:g.85384027C>T	ENSP00000258888:p.Pro708Leu						p.P708L	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2290	+			708					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2123C>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292365	0.40594	.	.	ENSG00000136383	ENST00000258888	T	0.63744	-0.06	5.23	3.33	0.38152	.	1.922650	0.02025	N	0.048107	T	0.53270	0.1786	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43829	-0.9367	10	0.66056	D	0.02	1.1421	8.315	0.32095	0.0:0.8124:0.0:0.1876	.	708	Q96L96	ALPK3_HUMAN	L	708	ENSP00000258888:P708L	ENSP00000258888:P708L	P	+	2	0	ALPK3	83185031	0.000000	0.05858	0.024000	0.17045	0.170000	0.22686	-0.024000	0.12435	1.210000	0.43336	0.557000	0.71058	CCA		0.617	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		16	39	0	0	0	1	0	16	39				
DSG4	147409	broad.mit.edu	37	18	28972243	28972243	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:28972243G>A	ENST00000308128.4	+	8	1080	c.945G>A	c.(943-945)ggG>ggA	p.G315G	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.G315G|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	315	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAAATGATGGGAATTGGTTCG	0.348																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(943-945)ggG>ggA		desmoglein 4							97.0	95.0	95.0					18																	28972243		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28972243G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.945G>A	18.37:g.28972243G>A						RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Silent_p.G315G|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.G315G	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		8	974	+			315		Missing (in LAH1).	Cadherin 3.		A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.945G>A	CCDS11897.1																																																																																				0.348	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		6	60	0	0	0	1	0	6	60				
PTK2	5747	broad.mit.edu	37	8	141711055	141711055	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:141711055G>A	ENST00000522684.1	-	26	2663	c.2434C>T	c.(2434-2436)Cta>Tta	p.L812L	PTK2_ENST00000340930.3_Silent_p.L812L|PTK2_ENST00000538769.1_Silent_p.L480L|PTK2_ENST00000519465.1_Silent_p.L440L|PTK2_ENST00000395218.2_Silent_p.L812L|PTK2_ENST00000519419.1_Silent_p.L856L|PTK2_ENST00000521059.1_Silent_p.L812L|PTK2_ENST00000535192.1_Silent_p.L766L|PTK2_ENST00000517887.1_Silent_p.L856L|PTK2_ENST00000430260.2_Silent_p.L122L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	812	Interaction with TGFB1I1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGTCGGATTAGACGCTCTTCC	0.448																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(2434-2436)Cta>Tta		protein tyrosine kinase 2							118.0	110.0	112.0					8																	141711055		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141711055G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2434C>T	8.37:g.141711055G>A						PTK2_ENST00000395218.2_Silent_p.L812L|PTK2_ENST00000340930.3_Silent_p.L812L|PTK2_ENST00000538769.1_Silent_p.L480L|PTK2_ENST00000535192.1_Silent_p.L766L|PTK2_ENST00000519465.1_Silent_p.L440L|PTK2_ENST00000521059.1_Silent_p.L812L|PTK2_ENST00000517887.1_Silent_p.L856L|PTK2_ENST00000430260.2_Silent_p.L122L|PTK2_ENST00000519419.1_Silent_p.L856L	p.L812L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		26	2663	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	812			Interaction with TGFB1I1.		B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	c.2434C>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377260	0.24944	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.91	2.79	0.32731	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48958	-0.8988	4	.	.	.	.	6.9917	0.24759	0.3999:0.0:0.6001:0.0	.	.	.	.	F	776	.	.	S	-	2	0	PTK2	141780237	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.534000	0.45676	0.840000	0.34995	0.655000	0.94253	TCT		0.448	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		5	72	0	0	0	1	0	5	72				
NAV2	89797	broad.mit.edu	37	11	19970371	19970371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:19970371C>T	ENST00000396087.3	+	11	2558	c.2459C>T	c.(2458-2460)gCc>gTc	p.A820V	NAV2_ENST00000360655.4_Missense_Mutation_p.A733V|NAV2_ENST00000349880.4_Missense_Mutation_p.A797V|NAV2_ENST00000540292.1_Missense_Mutation_p.A751V|NAV2_ENST00000527559.2_Missense_Mutation_p.A749V|NAV2_ENST00000396085.1_Missense_Mutation_p.A797V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	820					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCAGGAGACGCCCCCTCAATG	0.612																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2389-2391)gCc>gTc		neuron navigator 2							65.0	56.0	59.0					11																	19970371		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19970371C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2459C>T	11.37:g.19970371C>T	ENSP00000379396:p.Ala820Val					NAV2_ENST00000527559.2_Missense_Mutation_p.A749V|NAV2_ENST00000360655.4_Missense_Mutation_p.A733V|NAV2_ENST00000396087.3_Missense_Mutation_p.A820V|NAV2_ENST00000540292.1_Missense_Mutation_p.A751V|NAV2_ENST00000349880.4_Missense_Mutation_p.A797V	p.A797V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			10	2751	+			820					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2390C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	35	5.429846	0.96131	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000010	T	0.39009	0.1062	L	0.56199	1.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.03493	-1.1031	9	.	.	.	.	18.8846	0.92370	0.0:1.0:0.0:0.0	.	797;733	Q8IVL1-3;Q8IVL1-4	.;.	V	733;797;797;820;749;751	ENSP00000353871:A733V;ENSP00000379394:A797V;ENSP00000309577:A797V;ENSP00000379396:A820V;ENSP00000435395:A749V;ENSP00000443489:A751V	.	A	+	2	0	NAV2	19926947	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	7.740000	0.84986	2.530000	0.85305	0.563000	0.77884	GCC		0.612	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		24	6	0	0	0	1	0	24	6				
TGOLN2	10618	broad.mit.edu	37	2	85549838	85549838	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:85549838C>T	ENST00000409232.3	-	4	1413	c.1352G>A	c.(1351-1353)gGa>gAa	p.G451E	TGOLN2_ENST00000398263.2_3'UTR|TGOLN2_ENST00000377386.3_3'UTR|TGOLN2_ENST00000409015.1_3'UTR|TGOLN2_ENST00000282120.2_3'UTR			O43493	TGON2_HUMAN	trans-golgi network protein 2	0						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TCATCTTTTTCCAGAGGAATA	0.408																																						ENST00000409232.3																			0											c.(1351-1353)gGa>gAa		trans-golgi network protein 2							63.0	61.0	62.0					2																	85549838		1884	4117	6001	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85549838C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1352G>A	2.37:g.85549838C>T	ENSP00000386443:p.Gly451Glu					TGOLN2_ENST00000398263.2_3'UTR|TGOLN2_ENST00000377386.3_3'UTR|TGOLN2_ENST00000409015.1_3'UTR|TGOLN2_ENST00000282120.2_3'UTR	p.G451E			O43493	TGON2_HUMAN			4	1413	-			0					B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.1352G>A	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836396	0.16891	.	.	ENSG00000152291	ENST00000409232	T	0.13089	2.62	5.23	0.766	0.18476	.	.	.	.	.	T	0.14313	0.0346	L	0.40543	1.245	0.09310	N	1	.	.	.	.	.	.	T	0.26018	-1.0115	7	0.87932	D	0	.	6.7911	0.23699	0.0:0.4669:0.0:0.5331	.	.	.	.	E	451	ENSP00000386443:G451E	ENSP00000386443:G451E	G	-	2	0	TGOLN2	85403349	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	0.101000	0.15251	0.256000	0.21614	0.655000	0.94253	GGA		0.408	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		5	23	0	0	0	1	0	5	23				
NRSN2	80023	broad.mit.edu	37	20	330377	330377	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:330377C>T	ENST00000382291.3	+	3	330	c.90C>T	c.(88-90)caC>caT	p.H30H	NRSN2_ENST00000608736.1_Silent_p.H30H|RP5-1103G7.4_ENST00000442637.1_RNA|NRSN2_ENST00000382285.2_Silent_p.H30H|NRSN2_ENST00000492242.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	30						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CCTACCTGCACCTCTTCTATG	0.662																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(88-90)caC>caT		neurensin 2							61.0	57.0	58.0					20																	330377		2203	4300	6503	SO:0001819	synonymous_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:330377C>T	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.90C>T	20.37:g.330377C>T						NRSN2_ENST00000382285.2_Silent_p.H30H|NRSN2_ENST00000492242.1_Intron	p.H30H	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			3	330	+		all_cancers(10;0.0834)	30					A8K3B2|Q6FII5|Q9NUD3	Silent	SNP	ENST00000382291.3	37	c.90C>T	CCDS12996.1																																																																																				0.662	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		26	41	0	0	0	1	0	26	41				
BTN2A1	11120	broad.mit.edu	37	6	26465577	26465577	+	Missense_Mutation	SNP	G	G	A	rs369748235		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:26465577G>A	ENST00000312541.5	+	5	1125	c.877G>A	c.(877-879)Gct>Act	p.A293T	BTN2A1_ENST00000541522.1_Missense_Mutation_p.A232T|BTN2A1_ENST00000469185.1_Missense_Mutation_p.A293T|BTN2A1_ENST00000429381.1_Missense_Mutation_p.A293T	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	293					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AAGAGAAATTGCTCTAAAGGA	0.418																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(877-879)Gct>Act		butyrophilin, subfamily 2, member A1							110.0	108.0	108.0					6																	26465577		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26465577G>A	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.877G>A	6.37:g.26465577G>A	ENSP00000312158:p.Ala293Thr					BTN2A1_ENST00000469185.1_Missense_Mutation_p.A293T|BTN2A1_ENST00000312541.5_Missense_Mutation_p.A293T|BTN2A1_ENST00000541522.1_Missense_Mutation_p.A232T	p.A293T			Q7KYR7	BT2A1_HUMAN			5	1089	+			293					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.877G>A	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437681	0.25900	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T;T	0.77877	-0.49;1.09;-1.12;-1.13	3.12	1.06	0.20224	.	0.559854	0.14976	N	0.287536	T	0.50377	0.1612	M	0.74881	2.28	0.09310	N	1	B;B;B	0.32653	0.005;0.379;0.041	B;B;B	0.23716	0.007;0.048;0.014	T	0.32903	-0.9889	10	0.26408	T	0.33	.	4.8506	0.13535	0.349:0.0:0.651:0.0	.	232;293;293	B4DLP9;Q96AV7;Q7KYR7	.;.;BT2A1_HUMAN	T	293;232;293;279;293	ENSP00000312158:A293T;ENSP00000443909:A232T;ENSP00000416945:A293T;ENSP00000419043:A293T	ENSP00000265424:A279T	A	+	1	0	BTN2A1	26573556	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.628000	0.05515	0.238000	0.21222	0.455000	0.32223	GCT		0.418	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		38	81	0	0	0	1	0	38	81				
MECP2	4204	broad.mit.edu	37	X	153297974	153297974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153297974G>A	ENST00000303391.6	-	3	310	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	MECP2_ENST00000460227.1_5'UTR|MECP2_ENST00000407218.1_Missense_Mutation_p.L21F|MECP2_ENST00000453960.2_Missense_Mutation_p.L33F	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	21					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGTCCTTGAGGCCCTGGAGG	0.473																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(61-63)Ctc>Ttc		methyl CpG binding protein 2 (Rett syndrome)							99.0	100.0	99.0					X																	153297974		2196	4292	6488	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153297974G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.61C>T	X.37:g.153297974G>A	ENSP00000301948:p.Leu21Phe					MECP2_ENST00000407218.1_Missense_Mutation_p.L21F|MECP2_ENST00000480620.1_5'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.L33F	p.L21F	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			3	310	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		21					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.61C>T	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027061	0.54683	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218;ENST00000415944	D;D;D;D	0.97888	-2.65;-2.63;-4.59;-1.71	5.65	4.73	0.59995	.	0.376522	0.26623	N	0.023344	D	0.94265	0.8158	N	0.24115	0.695	0.30586	N	0.762037	B;B	0.32467	0.372;0.119	B;B	0.32533	0.147;0.043	D	0.93463	0.6812	10	0.51188	T	0.08	-12.2094	13.9734	0.64255	0.0:0.149:0.851:0.0	.	33;21	P51608-2;P51608	.;MECP2_HUMAN	F	21;21;33;21;21;21	ENSP00000301948:L21F;ENSP00000395535:L33F;ENSP00000384865:L21F;ENSP00000416267:L21F	ENSP00000301948:L21F	L	-	1	0	MECP2	152951168	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.930000	0.56522	2.386000	0.81285	0.529000	0.55759	CTC		0.473	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		8	114	0	0	0	1	0	8	114				
CLSTN1	22883	broad.mit.edu	37	1	9811628	9811628	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:9811628C>T	ENST00000377298.4	-	5	1344	c.552G>A	c.(550-552)agG>agA	p.R184R	CLSTN1_ENST00000377288.3_Silent_p.R184R|CLSTN1_ENST00000361311.4_Silent_p.R174R	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCCTCCACCCTCAAAATGC	0.522																																						ENST00000377298.4																			0				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						c.(550-552)agG>agA		calsyntenin 1							114.0	101.0	105.0					1																	9811628		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9811628C>T	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.552G>A	1.37:g.9811628C>T						CLSTN1_ENST00000377288.3_Silent_p.R184R|CLSTN1_ENST00000361311.4_Silent_p.R174R	p.R184R	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		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)	5	1344	-	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)	184			Cadherin 2.		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.552G>A	CCDS30580.1																																																																																				0.522	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			14	35	0	0	0	1	0	14	35				
ENPP3	5169	broad.mit.edu	37	6	132047257	132047257	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:132047257C>T	ENST00000414305.1	+	21	2198	c.1870C>T	c.(1870-1872)Ctc>Ttc	p.L624F	ENPP3_ENST00000357639.3_Missense_Mutation_p.L624F|ENPP3_ENST00000358229.5_Missense_Mutation_p.L624F			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	624	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGACCACTGTCTCCTTTACCA	0.418																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1870-1872)Ctc>Ttc		ectonucleotide pyrophosphatase/phosphodiesterase 3							175.0	164.0	168.0					6																	132047257		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132047257C>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1870C>T	6.37:g.132047257C>T	ENSP00000406261:p.Leu624Phe					ENPP3_ENST00000357639.3_Missense_Mutation_p.L624F|ENPP3_ENST00000358229.5_Missense_Mutation_p.L624F	p.L624F			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	21	2198	+	Breast(56;0.0753)		624			Nuclease.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1870C>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695164	0.68386	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.76316	-0.64;-0.64;-1.01	5.4	5.4	0.78164	Extracellular Endonuclease, subunit A (1);	0.093183	0.46442	D	0.000291	T	0.78868	0.4351	M	0.85197	2.74	0.80722	D	1	P	0.45011	0.848	B	0.41764	0.366	D	0.84087	0.0388	10	0.87932	D	0	-14.9717	19.5377	0.95260	0.0:1.0:0.0:0.0	.	624	O14638	ENPP3_HUMAN	F	624	ENSP00000406261:L624F;ENSP00000350265:L624F;ENSP00000350964:L624F	ENSP00000350265:L624F	L	+	1	0	ENPP3	132088950	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	1.655000	0.37345	2.692000	0.91855	0.655000	0.94253	CTC		0.418	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			32	71	0	0	0	1	0	32	71				
OR1S1	219959	broad.mit.edu	37	11	57982566	57982566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:57982566C>T	ENST00000309433.6	+	1	350	c.350C>T	c.(349-351)tCt>tTt	p.S117F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATGTACTTTTCTATTGTGTTT	0.433																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(349-351)tCt>tTt		olfactory receptor, family 1, subfamily S, member 1							183.0	173.0	176.0					11																	57982566		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982566C>T	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.350C>T	11.37:g.57982566C>T	ENSP00000311688:p.Ser117Phe						p.S117F	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	350	+		Breast(21;0.0589)	117					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.350C>T	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.762675	0.00651	.	.	ENSG00000172774	ENST00000309433	T	0.00382	7.61	3.45	0.328	0.15918	GPCR, rhodopsin-like superfamily (1);	0.141144	0.32935	N	0.005463	T	0.00073	0.0002	N	0.00188	-1.89	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.41070	-0.9529	10	0.02654	T	1	.	6.8051	0.23772	0.0:0.4264:0.0:0.5736	.	117	Q8NH92	OR1S1_HUMAN	F	117	ENSP00000311688:S117F	ENSP00000311688:S117F	S	+	2	0	OR1S1	57739142	0.007000	0.16637	0.343000	0.25615	0.777000	0.43975	1.253000	0.32886	0.177000	0.19895	0.479000	0.44913	TCT		0.433	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		5	195	0	0	0	1	0	5	195				
AR	367	broad.mit.edu	37	X	66766486	66766486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:66766486C>T	ENST00000374690.3	+	1	2022	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	AR_ENST00000396044.3_Missense_Mutation_p.P500S|AR_ENST00000504326.1_Missense_Mutation_p.P500S|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	499	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTTCACCGCACCTGATGTGTG	0.677									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(1498-1500)Cct>Tct		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						48.0	33.0	38.0					X																	66766486		2203	4296	6499	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66766486C>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1498C>T	X.37:g.66766486C>T	ENSP00000363822:p.Pro500Ser					AR_ENST00000396044.3_Missense_Mutation_p.P500S|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.P500S	p.P500S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	2022	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	499			Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.1498C>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	9.613	1.131880	0.21041	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.90955	-2.1;-2.76;-2.19	5.06	2.16	0.27623	.	0.435095	0.24552	N	0.037560	T	0.78355	0.4270	N	0.17312	0.475	0.09310	N	1	B;B;B	0.17268	0.021;0.003;0.001	B;B;B	0.13407	0.009;0.005;0.003	T	0.62877	-0.6761	10	0.27785	T	0.31	.	3.9869	0.09519	0.0:0.5173:0.174:0.3087	.	500;500;499	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	S	310;500;500;500;492	ENSP00000363822:P500S;ENSP00000421155:P500S;ENSP00000379359:P500S	ENSP00000363822:P500S	P	+	1	0	AR	66683211	0.001000	0.12720	0.006000	0.13384	0.901000	0.52897	0.012000	0.13287	0.526000	0.28541	0.509000	0.49947	CCT		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		6	10	0	0	0	1	0	6	10				
TRIM41	90933	broad.mit.edu	37	5	180651626	180651626	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:180651626G>A	ENST00000315073.5	+	1	1337	c.627G>A	c.(625-627)cgG>cgA	p.R209R	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.R209R	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	209					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTGATTCGGCAGATGCACC	0.612																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(625-627)cgG>cgA		tripartite motif containing 41							44.0	42.0	43.0					5																	180651626		2203	4300	6503	SO:0001819	synonymous_variant	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651626G>A	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.627G>A	5.37:g.180651626G>A						TRIM41_ENST00000351937.5_Silent_p.R209R	p.R209R	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1337	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	209					B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	37	c.627G>A	CCDS4466.1																																																																																				0.612	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		15	13	0	0	0	1	0	15	13				
RAB33A	9363	broad.mit.edu	37	X	129318622	129318622	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:129318622C>T	ENST00000257017.4	+	2	1036	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	208					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						CCAGAAATCCCTGCTGTATCG	0.507																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(622-624)Ctg>Ttg		RAB33A, member RAS oncogene family							78.0	70.0	72.0					X																	129318622		2203	4300	6503	SO:0001819	synonymous_variant	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318622C>T	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.622C>T	X.37:g.129318622C>T							p.L208L	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	1036	+			208					Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	c.622C>T	CCDS14621.1																																																																																				0.507	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		6	65	0	0	0	1	0	6	65				
SYNJ1	8867	broad.mit.edu	37	21	34003695	34003695	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:34003695C>T	ENST00000322229.7	-	31	4331	c.4332G>A	c.(4330-4332)ctG>ctA	p.L1444L	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.L1483L|SYNJ1_ENST00000382491.3_Silent_p.L1397L			O43426	SYNJ1_HUMAN	synaptojanin 1	1444	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAAGAGGCTGCAGAGAAGGGA	0.448																																						ENST00000382491.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(4189-4191)ctG>ctA		synaptojanin 1							73.0	73.0	73.0					21																	34003695		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003695C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4332G>A	21.37:g.34003695C>T						SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Silent_p.L1444L|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.L1483L	p.L1397L	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN			28	4315	-			1444			3 X 3 AA repeats of N-P-F.|Pro-rich.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.4191G>A	CCDS54484.1																																																																																				0.448	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	82	0	0	0	1	0	4	82				
TTC17	55761	broad.mit.edu	37	11	43427173	43427173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:43427173G>A	ENST00000039989.4	+	12	1603	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	TTC17_ENST00000299240.6_Missense_Mutation_p.G530E|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	530					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAAAACAAAGGACTCAGGCAA	0.458																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1588-1590)gGa>gAa		tetratricopeptide repeat domain 17							93.0	98.0	96.0					11																	43427173		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43427173G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1589G>A	11.37:g.43427173G>A	ENSP00000039989:p.Gly530Glu					TTC17_ENST00000299240.6_Missense_Mutation_p.G530E|TTC17_ENST00000526774.1_3'UTR	p.G530E	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			12	1603	+			530					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1589G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088936	0.76756	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.60672	0.17;0.2	5.64	5.64	0.86602	.	0.150314	0.64402	D	0.000011	T	0.71660	0.3366	L	0.59436	1.845	0.41655	D	0.989156	D;D;D	0.76494	0.998;0.969;0.999	D;P;D	0.70935	0.953;0.691;0.971	T	0.73855	-0.3851	10	0.72032	D	0.01	-15.9505	14.524	0.67873	0.0:0.0:0.8535:0.1465	.	530;530;530	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	E	530	ENSP00000299240:G530E;ENSP00000039989:G530E	ENSP00000039989:G530E	G	+	2	0	TTC17	43383749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.920000	0.63390	2.664000	0.90586	0.655000	0.94253	GGA		0.458	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		4	113	0	0	0	1	0	4	113				
BRSK1	84446	broad.mit.edu	37	19	55805606	55805606	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55805606G>A	ENST00000309383.1	+	6	877	c.600G>A	c.(598-600)gaG>gaA	p.E200E	BRSK1_ENST00000585418.1_Silent_p.E200E|BRSK1_ENST00000590333.1_Silent_p.E216E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CGTGTCCAGAGGTGATTAAGG	0.602																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(598-600)gaG>gaA		BR serine/threonine kinase 1							80.0	82.0	81.0					19																	55805606		2203	4300	6503	SO:0001819	synonymous_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55805606G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.600G>A	19.37:g.55805606G>A						BRSK1_ENST00000590333.1_Silent_p.E216E|BRSK1_ENST00000585418.1_Silent_p.E200E	p.E200E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	6	877	+		Renal(1328;0.245)	200			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	c.600G>A	CCDS12921.1																																																																																				0.602	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		9	63	0	0	0	1	0	9	63				
MARK2	2011	broad.mit.edu	37	11	63670210	63670210	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:63670210C>T	ENST00000509502.2	+	13	1733	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	MARK2_ENST00000502399.3_Silent_p.L457L|MARK2_ENST00000425897.2_Silent_p.L424L|MARK2_ENST00000408948.3_Silent_p.L424L|MARK2_ENST00000508192.1_Silent_p.L457L|MARK2_ENST00000361128.5_Silent_p.L458L|MARK2_ENST00000377810.3_Silent_p.L424L|MARK2_ENST00000350490.7_Silent_p.L457L|MARK2_ENST00000413835.2_Silent_p.L458L|MARK2_ENST00000315032.8_Silent_p.L458L|MARK2_ENST00000377809.4_Silent_p.L458L|MARK2_ENST00000513765.2_Silent_p.L425L|MARK2_ENST00000402010.2_Silent_p.L458L	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TGCCAGCCCCCTGCCCGGTCT	0.642																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1372-1374)Ctg>Ttg		MAP/microtubule affinity-regulating kinase 2							39.0	41.0	40.0					11																	63670210		2201	4297	6498	SO:0001819	synonymous_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63670210C>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1270C>T	11.37:g.63670210C>T						MARK2_ENST00000377810.3_Silent_p.L424L|MARK2_ENST00000408948.3_Silent_p.L424L|MARK2_ENST00000513765.2_Silent_p.L425L|MARK2_ENST00000413835.2_Silent_p.L458L|MARK2_ENST00000425897.2_Silent_p.L424L|MARK2_ENST00000361128.5_Silent_p.L458L|MARK2_ENST00000315032.8_Silent_p.L458L|MARK2_ENST00000350490.7_Silent_p.L457L|MARK2_ENST00000509502.2_Silent_p.L424L|MARK2_ENST00000508192.1_Silent_p.L457L|MARK2_ENST00000377809.4_Silent_p.L458L|MARK2_ENST00000502399.3_Silent_p.L457L	p.L458L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			13	1951	+			458						Silent	SNP	ENST00000509502.2	37	c.1372C>T	CCDS41665.1																																																																																				0.642	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		14	27	0	0	0	1	0	14	27				
CSPP1	79848	broad.mit.edu	37	8	68015275	68015275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:68015275G>A	ENST00000262210.5	+	7	985	c.954G>A	c.(952-954)atG>atA	p.M318I	CSPP1_ENST00000412460.1_Missense_Mutation_p.M24I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	353					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTTTAAGGATGCACAGGAACA	0.358																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(952-954)atG>atA		centrosome and spindle pole associated protein 1							113.0	105.0	108.0					8																	68015275		1868	4111	5979	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68015275G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.954G>A	8.37:g.68015275G>A	ENSP00000262210:p.Met318Ile					CSPP1_ENST00000412460.1_Missense_Mutation_p.M24I	p.M318I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		7	985	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	353					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.954G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	1.138	-0.650500	0.03506	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.30182	1.56;1.54;1.54	4.82	-2.83	0.05769	.	1.280080	0.04867	N	0.445220	T	0.27967	0.0689	L	0.56769	1.78	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.002;0.002;0.004;0.004	T	0.36962	-0.9726	10	0.54805	T	0.06	0.6073	5.2296	0.15414	0.5241:0.0:0.3343:0.1416	.	24;318;353;353	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	318;353;24;24	ENSP00000262210:M318I;ENSP00000415782:M24I;ENSP00000430092:M24I	ENSP00000262210:M318I	M	+	3	0	CSPP1	68177829	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	-0.088000	0.11198	-0.527000	0.06374	-0.182000	0.12963	ATG		0.358	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		16	26	0	0	0	1	0	16	26				
NDUFA8	4702	broad.mit.edu	37	9	124910425	124910425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:124910425C>T	ENST00000373768.3	-	3	488	c.347G>A	c.(346-348)gGc>gAc	p.G116D	NDUFA8_ENST00000537618.1_Missense_Mutation_p.G116D	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	116					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						CCGCACCCAGCCCAGTTTGTC	0.502																																						ENST00000537618.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(346-348)gGc>gAc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	NADH(DB00157)						119.0	113.0	115.0					9																	124910425		2203	4300	6503	SO:0001583	missense	4702				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:124910425C>T	AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"""Mitochondrial respiratory chain complex / Complex I"""	7692	protein-coding gene	gene with protein product	"""complex I PGIV subunit"""	603359	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"""			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.347G>A	9.37:g.124910425C>T	ENSP00000362873:p.Gly116Asp					NDUFA8_ENST00000373768.3_Missense_Mutation_p.G116D	p.G116D			P51970	NDUA8_HUMAN			3	456	-			116					B1AM93|Q9Y6N0	Missense_Mutation	SNP	ENST00000373768.3	37	c.347G>A	CCDS6835.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732533	0.69189	.	.	ENSG00000119421	ENST00000537618;ENST00000373768	T;D	0.83591	-1.14;-1.74	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	L	0.39020	1.185	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.85197	0.1013	10	0.34782	T	0.22	-19.5392	15.6765	0.77332	0.0:1.0:0.0:0.0	.	116	P51970	NDUA8_HUMAN	D	116	ENSP00000442247:G116D;ENSP00000362873:G116D	ENSP00000362873:G116D	G	-	2	0	NDUFA8	123950246	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.278000	0.78587	2.287000	0.76781	0.579000	0.79373	GGC		0.502	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053909.1	NM_014222		6	95	0	0	0	1	0	6	95				
GAPDHS	26330	broad.mit.edu	37	19	36033228	36033228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36033228C>T	ENST00000222286.4	+	5	573	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	153					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	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)			CAGCAAAGAGCCCAAACAGAT	0.592																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(457-459)Ccc>Tcc		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						47.0	46.0	46.0					19																	36033228		2203	4300	6503	SO:0001583	missense	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36033228C>T	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.457C>T	19.37:g.36033228C>T	ENSP00000222286:p.Pro153Ser					AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA	p.P153S	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	573	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		153					B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	c.457C>T	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630212	0.46944	.	.	ENSG00000105679	ENST00000222286	T	0.70986	-0.53	5.0	2.66	0.31614	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.124365	0.53938	D	0.000041	D	0.82495	0.5049	M	0.89840	3.065	0.80722	D	1	D	0.69078	0.997	P	0.57620	0.824	D	0.86141	0.1581	10	0.87932	D	0	-20.6503	11.9602	0.53005	0.0:0.6666:0.3334:0.0	.	153	O14556	G3PT_HUMAN	S	153	ENSP00000222286:P153S	ENSP00000222286:P153S	P	+	1	0	GAPDHS	40725068	1.000000	0.71417	0.984000	0.44739	0.071000	0.16799	3.730000	0.55006	1.213000	0.43380	0.462000	0.41574	CCC		0.592	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		15	31	0	0	0	1	0	15	31				
KLHL42	57542	broad.mit.edu	37	12	27950895	27950895	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:27950895G>A	ENST00000381271.2	+	3	1625	c.1314G>A	c.(1312-1314)tcG>tcA	p.S438S	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	438					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CGTCCAAATCGGGTCTTAACT	0.562																																						ENST00000381271.2																			0											c.(1312-1314)tcG>tcA		kelch-like family member 42							146.0	93.0	111.0					12																	27950895		2203	4300	6503	SO:0001819	synonymous_variant	57542							g.chr12:27950895G>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1314G>A	12.37:g.27950895G>A							p.S438S	NM_020782.1	NP_065833.1					3	1625	+								Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	c.1314G>A	CCDS31763.1																																																																																				0.562	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		9	74	0	0	0	1	0	9	74				
ABCC12	94160	broad.mit.edu	37	16	48122610	48122610	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:48122610C>T	ENST00000311303.3	-	24	3666	c.3321G>A	c.(3319-3321)gtG>gtA	p.V1107V	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1107						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GACAGGTCCCCACTTTGAGGG	0.478																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3319-3321)gtG>gtA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							77.0	66.0	70.0					16																	48122610		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48122610C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3321G>A	16.37:g.48122610C>T						ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	p.V1107V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			24	3666	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1107					Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3321G>A	CCDS10730.1																																																																																				0.478	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		5	42	0	0	0	1	0	5	42				
TFAP2E	339488	broad.mit.edu	37	1	36054119	36054119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36054119C>T	ENST00000373235.3	+	4	959	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCCCGAGTGCCTCAACGCCTC	0.652																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(751-753)Ctc>Ttc		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)							75.0	68.0	70.0					1																	36054119		2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36054119C>T	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.751C>T	1.37:g.36054119C>T	ENSP00000362332:p.Leu251Phe						p.L251F	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			4	959	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	251						Missense_Mutation	SNP	ENST00000373235.3	37	c.751C>T	CCDS393.2	.	.	.	.	.	.	.	.	.	.	C	33	5.287564	0.95517	.	.	ENSG00000116819	ENST00000373235	D	0.98493	-4.96	5.8	5.8	0.92144	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99433	1.0936	10	0.87932	D	0	-17.7738	20.0591	0.97667	0.0:1.0:0.0:0.0	.	251	Q6VUC0	AP2E_HUMAN	F	251	ENSP00000362332:L251F	ENSP00000362332:L251F	L	+	1	0	TFAP2E	35826706	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.086000	0.71352	2.747000	0.94245	0.462000	0.41574	CTC		0.652	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		24	56	0	0	0	1	0	24	56				
MUC16	94025	broad.mit.edu	37	19	9046466	9046466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9046466C>T	ENST00000397910.4	-	5	35368	c.35165G>A	c.(35164-35166)aGt>aAt	p.S11722N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11724	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)				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						TGTCCTAGGACTGGTGGCCAT	0.517																																						ENST00000397910.4																			0				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						c.(35164-35166)aGt>aAt		mucin 16, cell surface associated							123.0	118.0	120.0					19																	9046466		1978	4154	6132	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046466C>T	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.35165G>A	19.37:g.9046466C>T	ENSP00000381008:p.Ser11722Asn						p.S11722N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35368	-			11724			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35165G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.289	0.817310	0.16607	.	.	ENSG00000181143	ENST00000397910	T	0.03152	4.03	3.46	-2.27	0.06846	.	.	.	.	.	T	0.04634	0.0126	L	0.55990	1.75	.	.	.	P	0.50528	0.936	P	0.44477	0.451	T	0.28618	-1.0038	8	0.87932	D	0	.	4.5084	0.11899	0.0:0.2387:0.3381:0.4231	.	11722	B5ME49	.	N	11722	ENSP00000381008:S11722N	ENSP00000381008:S11722N	S	-	2	0	MUC16	8907466	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.164000	0.09983	-0.322000	0.08615	0.556000	0.70494	AGT		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	138	0	0	0	1	0	5	138				
KIAA1033	23325	broad.mit.edu	37	12	105543469	105543469	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:105543469C>T	ENST00000332180.5	+	25	2678	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CACATCAAATCCAGATTGATT	0.269																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2590-2592)tCc>tTc		KIAA1033							84.0	87.0	86.0					12																	105543469		1800	4038	5838	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105543469C>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2591C>T	12.37:g.105543469C>T	ENSP00000328062:p.Ser864Phe						p.S864F	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			25	2678	+			864						Missense_Mutation	SNP	ENST00000332180.5	37	c.2591C>T	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927149	0.92389	.	.	ENSG00000136051	ENST00000332180	T	0.56103	0.48	5.52	5.52	0.82312	.	0.060513	0.85682	D	0.000000	T	0.74861	0.3772	M	0.87758	2.905	0.80722	D	1	D;D	0.53885	0.963;0.963	P;P	0.60473	0.875;0.875	T	0.79588	-0.1741	10	0.87932	D	0	.	17.6323	0.88112	0.0:1.0:0.0:0.0	.	865;864	B7ZKT9;Q2M389	.;WASH7_HUMAN	F	864	ENSP00000328062:S864F	ENSP00000328062:S864F	S	+	2	0	KIAA1033	104067599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.583000	0.87209	0.557000	0.71058	TCC		0.269	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		10	191	0	0	0	1	0	10	191				
ENG	2022	broad.mit.edu	37	9	130582288	130582288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:130582288G>A	ENST00000373203.4	-	9	1563	c.1163C>T	c.(1162-1164)aCc>aTc	p.T388I	RP11-228B15.4_ENST00000425991.1_RNA|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000344849.3_Missense_Mutation_p.T388I|ENG_ENST00000480266.1_5'UTR	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	388	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GTCCCAGAAGGTCAGGCCCGT	0.597									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(1162-1164)aCc>aTc		endoglin							83.0	74.0	77.0					9																	130582288		2203	4300	6503	SO:0001583	missense	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130582288G>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1163C>T	9.37:g.130582288G>A	ENSP00000362299:p.Thr388Ile					RP11-228B15.4_ENST00000425991.1_RNA|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000373203.4_Missense_Mutation_p.T388I|ENG_ENST00000480266.1_5'UTR	p.T388I			P17813	EGLN_HUMAN			9	1443	-			388			Ser/Thr-rich.		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.1163C>T	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230389	0.39399	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	D;D	0.82526	-1.62;-1.62	3.99	3.99	0.46301	Zona pellucida sperm-binding protein (1);	0.175153	0.34200	N	0.004168	D	0.85775	0.5775	L	0.43923	1.385	0.32376	N	0.55526	D;D	0.63880	0.993;0.993	D;D	0.63113	0.911;0.911	D	0.88303	0.2951	10	0.87932	D	0	-11.2622	12.8964	0.58101	0.0:0.0:1.0:0.0	.	388;388	Q5T9B9;P17813	.;EGLN_HUMAN	I	388;388;388;206	ENSP00000362299:T388I;ENSP00000341917:T388I	ENSP00000341917:T388I	T	-	2	0	ENG	129622109	1.000000	0.71417	0.981000	0.43875	0.040000	0.13550	3.380000	0.52448	2.039000	0.60335	0.491000	0.48974	ACC		0.597	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			11	27	0	0	0	1	0	11	27				
LMAN1L	79748	broad.mit.edu	37	15	75111586	75111586	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75111586G>A	ENST00000309664.5	+	6	830	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.V231I	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	231	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTCTTTGGGGTCTCAGCAGC	0.562																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(691-693)Gtc>Atc		lectin, mannose-binding, 1 like							165.0	164.0	164.0					15																	75111586		2197	4296	6493	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75111586G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.691G>A	15.37:g.75111586G>A	ENSP00000310431:p.Val231Ile					LMAN1L_ENST00000379709.3_Missense_Mutation_p.V231I	p.V231I	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			6	830	+			231			L-type lectin-like.		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.691G>A	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	7.872	0.728458	0.15507	.	.	ENSG00000140506	ENST00000309664;ENST00000456603;ENST00000379709	T;T	0.63580	-0.05;-0.05	5.67	3.41	0.39046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.366373	0.25720	N	0.028751	T	0.51329	0.1668	L	0.46947	1.48	0.37719	D	0.924842	B;B;B;B	0.29162	0.117;0.096;0.235;0.117	B;B;B;B	0.31812	0.064;0.064;0.136;0.106	T	0.47315	-0.9127	9	.	.	.	-26.1906	7.3317	0.26586	0.2438:0.0:0.7562:0.0	.	123;231;159;231	B4DGW5;Q9HAT1-3;B4DU67;Q9HAT1	.;.;.;LMA1L_HUMAN	I	231;123;231	ENSP00000310431:V231I;ENSP00000369031:V231I	.	V	+	1	0	LMAN1L	72898639	1.000000	0.71417	0.999000	0.59377	0.178000	0.23041	1.368000	0.34216	0.649000	0.30751	-0.218000	0.12543	GTC		0.562	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			31	101	0	0	0	1	0	31	101				
SLC10A2	6555	broad.mit.edu	37	13	103718274	103718274	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103718274C>T	ENST00000245312.3	-	1	922	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	109					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGAGGCAGTTCCTCCAGGGCA	0.507																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(325-327)gGa>gAa		solute carrier family 10 (sodium/bile acid cotransporter), member 2							92.0	87.0	89.0					13																	103718274		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103718274C>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.326G>A	13.37:g.103718274C>T	ENSP00000245312:p.Gly109Glu						p.G109E	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			1	922	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		109					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.326G>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562535	0.86335	.	.	ENSG00000125255	ENST00000245312	T	0.13901	2.55	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76748	-0.2845	10	0.87932	D	0	-11.3555	18.848	0.92215	0.0:1.0:0.0:0.0	.	109	Q12908	NTCP2_HUMAN	E	109	ENSP00000245312:G109E	ENSP00000245312:G109E	G	-	2	0	SLC10A2	102516275	1.000000	0.71417	0.987000	0.45799	0.698000	0.40448	7.798000	0.85924	2.451000	0.82905	0.655000	0.94253	GGA		0.507	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			33	59	0	0	0	1	0	33	59				
SIX6	4990	broad.mit.edu	37	14	60977861	60977861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:60977861G>A	ENST00000327720.5	+	2	1080	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	211					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GAGGGCGACGGCACGCCAGAG	0.667																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(631-633)gGc>gAc		SIX homeobox 6							19.0	20.0	19.0					14																	60977861		2192	4286	6478	SO:0001583	missense	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60977861G>A	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.632G>A	14.37:g.60977861G>A	ENSP00000328596:p.Gly211Asp						p.G211D	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	2	1080	+			211					Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	c.632G>A	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195201	0.22037	.	.	ENSG00000184302	ENST00000327720	D	0.90844	-2.74	5.27	4.37	0.52481	.	0.262037	0.44285	D	0.000465	T	0.81945	0.4930	N	0.19112	0.55	0.42650	D	0.993445	B	0.02656	0.0	B	0.04013	0.001	T	0.76889	-0.2792	10	0.45353	T	0.12	.	8.7111	0.34385	0.0786:0.1535:0.7679:0.0	.	211	O95475	SIX6_HUMAN	D	211	ENSP00000328596:G211D	ENSP00000328596:G211D	G	+	2	0	SIX6	60047614	0.999000	0.42202	0.871000	0.34182	0.057000	0.15508	3.351000	0.52232	1.427000	0.47276	-0.181000	0.13052	GGC		0.667	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			8	21	0	0	0	1	0	8	21				
NPSR1	387129	broad.mit.edu	37	7	34851475	34851475	+	Splice_Site	SNP	G	G	A	rs200993440		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:34851475G>A	ENST00000360581.1	+	4	606	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Splice_Site_p.E160K|NPSR1_ENST00000531252.1_Splice_Site_p.E149K|NPSR1_ENST00000359791.1_Splice_Site_p.E160K	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	160						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTTCAAGGAGGTGAGCTGGC	0.448																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.e4+1		neuropeptide S receptor 1	Halothane(DB01159)	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	167.0	138.0	148.0		478,478	5.6	1.0	7		148	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice	NPSR1	NM_207172.1,NM_207173.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	160/372,160/378	34851475	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34851475G>A	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.478+1G>A	7.37:g.34851475G>A						NPSR1_ENST00000531252.1_Splice_Site_p.E149_splice|NPSR1_ENST00000359791.1_Splice_Site_p.E160_splice|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Splice_Site_p.E160_splice	p.E160_splice	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			4	606	+			160					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Splice_Site	SNP	ENST00000360581.1	37	c.478_splice	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803964	0.50315	0.0	1.16E-4	ENSG00000187258	ENST00000360581;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.187624	0.37178	N	0.002216	T	0.70064	0.3181	N	0.21545	0.675	0.54753	D	0.999988	D;D;D;D	0.63880	0.993;0.97;0.993;0.976	P;P;P;P	0.61003	0.879;0.852;0.879;0.882	T	0.63148	-0.6702	10	0.07175	T	0.84	-18.23	18.1285	0.89593	0.0:0.0:1.0:0.0	.	149;160;160;160	Q6W5P4-5;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;NPSR1_HUMAN	K	160;160;149;160	ENSP00000353788:E160K;ENSP00000352839:E160K;ENSP00000433258:E149K;ENSP00000370950:E160K	ENSP00000352839:E160K	E	+	1	0	NPSR1	34818000	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.265000	0.58865	2.616000	0.88540	0.655000	0.94253	GAA		0.448	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173	Missense_Mutation	4	169	0	0	0	1	0	4	169				
ZNF211	10520	broad.mit.edu	37	19	58152148	58152148	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58152148G>A	ENST00000347302.3	+	3	473	c.294G>A	c.(292-294)agG>agA	p.R98R	ZNF211_ENST00000420680.1_Silent_p.R102R|ZNF211_ENST00000299871.5_Silent_p.R163R|ZNF211_ENST00000541801.1_Silent_p.R89R|ZNF211_ENST00000544273.1_Silent_p.R110R|ZNF211_ENST00000254182.7_Silent_p.R89R|ZNF211_ENST00000391703.3_Silent_p.R37R|ZNF211_ENST00000240731.4_Silent_p.R111R	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	98	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)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACAGTTCAGGACTTCCAAAG	0.438																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(328-330)agG>agA		zinc finger protein 211							99.0	101.0	100.0					19																	58152148		2203	4300	6503	SO:0001819	synonymous_variant	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152148G>A	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.294G>A	19.37:g.58152148G>A						ZNF211_ENST00000541801.1_Silent_p.R89R|ZNF211_ENST00000420680.1_Silent_p.R102R|ZNF211_ENST00000347302.3_Silent_p.R98R|ZNF211_ENST00000391703.3_Silent_p.R37R|ZNF211_ENST00000299871.5_Silent_p.R163R|ZNF211_ENST00000254182.7_Silent_p.R89R|ZNF211_ENST00000240731.4_Silent_p.R111R	p.R110R			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	657	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	98		D -> N (in dbSNP:rs34897843).			B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Silent	SNP	ENST00000347302.3	37	c.330G>A	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838274	0.16891	.	.	ENSG00000121417	ENST00000407202	.	.	.	3.72	2.68	0.31781	.	.	.	.	.	T	0.32010	0.0815	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19712	-1.0297	4	.	.	.	.	5.9508	0.19245	0.2372:0.0:0.7627:0.0	.	.	.	.	N	102	.	.	D	+	1	0	ZNF211	62843960	0.000000	0.05858	0.003000	0.11579	0.488000	0.33401	-0.158000	0.10070	0.791000	0.33826	-0.216000	0.12614	GAC		0.438	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			5	56	0	0	0	1	0	5	56				
HSD17B8	7923	broad.mit.edu	37	6	33172486	33172486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33172486C>T	ENST00000374662.3	+	1	68	c.41C>T	c.(40-42)gCc>gTc	p.A14V	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	14					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						TCCGCACTGGCCTTGGTCACA	0.662																																						ENST00000374662.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						c.(40-42)gCc>gTc		hydroxysteroid (17-beta) dehydrogenase 8	NADH(DB00157)						39.0	38.0	38.0					6																	33172486		1508	2708	4216	SO:0001583	missense	7923				estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr6:33172486C>T	D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.41C>T	6.37:g.33172486C>T	ENSP00000363794:p.Ala14Val					HSD17B8_ENST00000469186.1_3'UTR	p.A14V	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN			1	68	+			14					A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	c.41C>T	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647737	0.87958	.	.	ENSG00000204228	ENST00000374662	D	0.86030	-2.06	4.74	4.74	0.60224	NAD(P)-binding domain (1);	0.126462	0.53938	D	0.000053	T	0.78559	0.4302	N	0.15975	0.35	0.53005	D	0.999961	D	0.71674	0.998	P	0.58210	0.835	D	0.83486	0.0067	10	0.72032	D	0.01	.	13.1009	0.59219	0.0:1.0:0.0:0.0	.	14	Q92506	DHB8_HUMAN	V	14	ENSP00000363794:A14V	ENSP00000363794:A14V	A	+	2	0	HSD17B8	33280464	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.542000	0.53625	2.481000	0.83766	0.551000	0.68910	GCC		0.662	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234		3	24	0	0	0	1	0	3	24				
SLC6A6	6533	broad.mit.edu	37	3	14499478	14499478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:14499478C>T	ENST00000454876.2	+	6	949	c.620C>T	c.(619-621)tCc>tTc	p.S207F	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.S207F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	207					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTGAGCTTGTCCCCTGGAATC	0.567																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(619-621)tCc>tTc		solute carrier family 6 (neurotransmitter transporter), member 6							193.0	156.0	169.0					3																	14499478		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14499478C>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.620C>T	3.37:g.14499478C>T	ENSP00000398063:p.Ser207Phe					SLC6A6_ENST00000360861.3_Missense_Mutation_p.S207F|SLC6A6_ENST00000484191.1_3'UTR	p.S207F			P31641	SC6A6_HUMAN			6	949	+			207					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.620C>T	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090829	0.94149	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.77620	-1.11;-1.11	4.69	4.69	0.59074	.	0.111909	0.64402	D	0.000006	D	0.91761	0.7394	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94404	0.7625	10	0.87932	D	0	.	17.9689	0.89107	0.0:1.0:0.0:0.0	.	207	P31641	SC6A6_HUMAN	F	207	ENSP00000398063:S207F;ENSP00000354107:S207F	ENSP00000354107:S207F	S	+	2	0	SLC6A6	14474482	1.000000	0.71417	0.939000	0.37840	0.969000	0.65631	7.742000	0.85008	2.321000	0.78463	0.491000	0.48974	TCC		0.567	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		9	103	0	0	0	1	0	9	103				
COL1A2	1278	broad.mit.edu	37	7	94058509	94058509	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:94058509A>G	ENST00000297268.6	+	51	4192	c.3721A>G	c.(3721-3723)Aat>Gat	p.N1241D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1241	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTTTGAATATAATGTAGAAGG	0.383										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(3721-3723)Aat>Gat		collagen, type I, alpha 2	Collagenase(DB00048)						52.0	54.0	53.0					7																	94058509		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94058509A>G	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3721A>G	7.37:g.94058509A>G	ENSP00000297268:p.Asn1241Asp	HNSCC(75;0.22)					p.N1241D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		51	4192	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1241			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3721A>G	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266449	0.40095	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.72725	-0.68	5.09	5.09	0.68999	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76018	0.3929	L	0.35487	1.065	0.53688	D	0.999974	D	0.76494	0.999	D	0.67103	0.949	T	0.77534	-0.2552	10	0.51188	T	0.08	.	15.5912	0.76530	1.0:0.0:0.0:0.0	.	1241	P08123	CO1A2_HUMAN	D	1241;1242	ENSP00000297268:N1241D	ENSP00000297268:N1241D	N	+	1	0	COL1A2	93896445	1.000000	0.71417	0.745000	0.31077	0.316000	0.28119	4.497000	0.60367	2.225000	0.72522	0.533000	0.62120	AAT		0.383	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		8	69	0	0	0	1	0	8	69				
COBLL1	22837	broad.mit.edu	37	2	165559685	165559685	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:165559685G>A	ENST00000392717.2	-	10	1389	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	COBLL1_ENST00000194871.6_Missense_Mutation_p.P490L|COBLL1_ENST00000342193.4_Missense_Mutation_p.P424L|COBLL1_ENST00000375458.2_Intron|COBLL1_ENST00000409184.3_Intron|COBLL1_ENST00000491126.2_Intron			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	462						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CATCAGTTTGGGCGCAGTGCA	0.507																																						ENST00000342193.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(1270-1272)cCc>cTc		cordon-bleu WH2 repeat protein-like 1							145.0	131.0	135.0					2																	165559685		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165559685G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1385C>T	2.37:g.165559685G>A	ENSP00000376478:p.Pro462Leu					COBLL1_ENST00000375458.2_Intron|COBLL1_ENST00000409184.3_Intron|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.P462L|COBLL1_ENST00000194871.6_Missense_Mutation_p.P490L	p.P424L	NM_014900.3	NP_055715.3	Q53SF7	COBL1_HUMAN			9	1486	-			462					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.1271C>T		.	.	.	.	.	.	.	.	.	.	G	2.662	-0.279621	0.05642	.	.	ENSG00000082438	ENST00000342193;ENST00000392717;ENST00000194871	.	.	.	4.77	2.94	0.34122	.	0.382991	0.25526	N	0.030073	T	0.17323	0.0416	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.07520	-1.0768	9	0.39692	T	0.17	-2.5615	3.138	0.06446	0.0949:0.1782:0.5419:0.185	.	490	B7Z2P5	.	L	424;462;490	.	ENSP00000194871:P490L	P	-	2	0	COBLL1	165267931	0.375000	0.25089	0.210000	0.23637	0.001000	0.01503	0.963000	0.29293	1.345000	0.45676	-0.182000	0.12963	CCC		0.507	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		49	99	0	0	0	1	0	49	99				
ZNF155	7711	broad.mit.edu	37	19	44501120	44501120	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44501120C>T	ENST00000270014.2	+	5	1239	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S	ZNF155_ENST00000407951.2_Missense_Mutation_p.P382S|ZNF155_ENST00000590615.1_Missense_Mutation_p.P371S|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	371					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AGGAGAAAAACCATATAATTG	0.428																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(1111-1113)Cca>Tca		zinc finger protein 155							114.0	115.0	115.0					19																	44501120		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44501120C>T	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1111C>T	19.37:g.44501120C>T	ENSP00000270014:p.Pro371Ser					RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.P382S|ZNF155_ENST00000590615.1_Missense_Mutation_p.P371S|RP11-15A1.7_ENST00000589021.1_RNA	p.P371S	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			5	1239	+		Prostate(69;0.0352)	371					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.1111C>T	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323479	0.81580	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.28454	1.61;1.61	2.37	2.37	0.29283	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48537	0.1505	L	0.56124	1.755	0.27678	N	0.94654	D;P	0.89917	1.0;0.894	D;P	0.91635	0.999;0.489	T	0.31888	-0.9927	9	0.56958	D	0.05	.	11.8212	0.52238	0.0:1.0:0.0:0.0	.	382;371	B4DM95;Q12901	.;ZN155_HUMAN	S	382;371	ENSP00000385163:P382S;ENSP00000270014:P371S	ENSP00000270014:P371S	P	+	1	0	ZNF155	49192960	0.002000	0.14202	0.248000	0.24265	0.940000	0.58332	1.749000	0.38319	1.311000	0.45024	0.462000	0.41574	CCA		0.428	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		41	98	0	0	0	1	0	41	98				
PRRT2	112476	broad.mit.edu	37	16	29825897	29825897	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29825897C>T	ENST00000358758.7	+	4	1295				AC009133.14_ENST00000569981.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.L375F|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_3'UTR	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2						neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						tctcctttgtctctccttgtc	0.582																																						ENST00000567659.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(1123-1125)Ctc>Ttc		proline-rich transmembrane protein 2							110.0	101.0	104.0					16																	29825897		1568	3582	5150	SO:0001627	intron_variant	112476				response to biotic stimulus	integral to membrane		g.chr16:29825897C>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.1013-52C>T	16.37:g.29825897C>T						PRRT2_ENST00000300797.6_3'UTR|PRRT2_ENST00000358758.7_Intron|AC009133.20_ENST00000569039.1_RNA	p.L375F			Q7Z6L0	PRRT2_HUMAN			3	1321	+			97					A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.1123C>T	CCDS10654.1																																																																																				0.582	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		3	19	0	0	0	1	0	3	19				
BAZ2A	11176	broad.mit.edu	37	12	57005885	57005885	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57005885G>A	ENST00000551812.1	-	6	1480	c.1287C>T	c.(1285-1287)gtC>gtT	p.V429V	BAZ2A_ENST00000179765.5_Silent_p.V397V|BAZ2A_ENST00000379441.3_Silent_p.V399V|BAZ2A_ENST00000549884.1_Silent_p.V427V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	429					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTGTTGGCGAGACTGCTGGTG	0.527																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1189-1191)gtC>gtT		bromodomain adjacent to zinc finger domain, 2A							109.0	123.0	118.0					12																	57005885		2121	4229	6350	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57005885G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1287C>T	12.37:g.57005885G>A						BAZ2A_ENST00000551812.1_Silent_p.V429V|BAZ2A_ENST00000549884.1_Silent_p.V427V|BAZ2A_ENST00000379441.3_Silent_p.V399V	p.V397V			Q9UIF9	BAZ2A_HUMAN			7	1390	-			429					B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.1191C>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	8.471	0.857539	0.17106	.	.	ENSG00000076108	ENST00000551996	.	.	.	5.23	4.31	0.51392	.	.	.	.	.	T	0.64068	0.2565	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63202	-0.6690	4	.	.	.	.	12.9546	0.58418	0.0:0.0:0.8183:0.1817	.	.	.	.	F	77	.	.	S	-	2	0	BAZ2A	55292152	0.099000	0.21834	0.812000	0.32479	0.885000	0.51271	0.652000	0.24888	1.464000	0.47987	0.655000	0.94253	TCT		0.527	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		12	29	0	0	0	1	0	12	29				
HTT	3064	broad.mit.edu	37	4	3221911	3221911	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:3221911G>A	ENST00000355072.5	+	53	7390	c.7245G>A	c.(7243-7245)gtG>gtA	p.V2415V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2415					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTTCTCAGGTGTGGAAGCTTG	0.527																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7243-7245)gtG>gtA		huntingtin							125.0	127.0	126.0					4																	3221911		1965	4143	6108	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3221911G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7245G>A	4.37:g.3221911G>A							p.V2415V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	53	7390	+		all_epithelial(65;0.18)	2415					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.7245G>A	CCDS43206.1																																																																																				0.527	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		23	106	0	0	0	1	0	23	106				
ARPC1A	10552	broad.mit.edu	37	7	98951652	98951652	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:98951652C>T	ENST00000262942.5	+	6	745	c.621C>T	c.(619-621)gtC>gtT	p.V207V	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000432884.2_Silent_p.V160V	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	207					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGCTGGGTCCACGGGGTAA	0.587																																						ENST00000432884.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(478-480)gtC>gtT		actin related protein 2/3 complex, subunit 1A, 41kDa							67.0	70.0	69.0					7																	98951652		2203	4300	6503	SO:0001819	synonymous_variant	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98951652C>T	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.621C>T	7.37:g.98951652C>T						ARPC1A_ENST00000262942.5_Silent_p.V207V|ARPC1A_ENST00000471960.1_3'UTR	p.V160V			Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	941	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		207					A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Silent	SNP	ENST00000262942.5	37	c.480C>T	CCDS5660.1																																																																																				0.587	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		7	116	0	0	0	1	0	7	116				
FSHR	2492	broad.mit.edu	37	2	49244666	49244666	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:49244666G>A	ENST00000406846.2	-	4	455	c.336C>T	c.(334-336)aaC>aaT	p.N112N	FSHR_ENST00000346173.3_Silent_p.N112N|FSHR_ENST00000304421.4_Silent_p.N112N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	112				N -> T (in Ref. 1; AAA52477). {ECO:0000305}.	female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AGGCCTCAGGGTTGATGTAGA	0.383									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(334-336)aaC>aaT		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						151.0	142.0	145.0					2																	49244666		2203	4300	6503	SO:0001819	synonymous_variant	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49244666G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.336C>T	2.37:g.49244666G>A						FSHR_ENST00000346173.3_Silent_p.N112N|FSHR_ENST00000304421.4_Silent_p.N112N	p.N112N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	455	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	112	N -> T (in Ref. 1; AAA52477).				A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.336C>T	CCDS1843.1																																																																																				0.383	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			19	26	0	0	0	1	0	19	26				
ASIC4	55515	broad.mit.edu	37	2	220397612	220397612	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220397612G>A	ENST00000347842.3	+	4	1413				ASIC4_ENST00000358078.4_Silent_p.E469E|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4						ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CAGGCAATGAGACCATCTGCC	0.502																																						ENST00000358078.4																			0											c.(1405-1407)gaG>gaA		acid-sensing (proton-gated) ion channel family member 4							243.0	191.0	208.0					2																	220397612		2203	4300	6503	SO:0001627	intron_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220397612G>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1399+413G>A	2.37:g.220397612G>A						ASIC4_ENST00000347842.3_Intron|ASIC4_ENST00000473709.1_3'UTR	p.E469E			Q96FT7	ACCN4_HUMAN			5	1421	+			466					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	c.1407G>A	CCDS2442.1																																																																																				0.502	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		18	27	0	0	0	1	0	18	27				
ANLN	54443	broad.mit.edu	37	7	36483472	36483472	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36483472G>A	ENST00000265748.2	+	22	3299		c.e22+1		ANLN_ENST00000396068.2_Splice_Site	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein						hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GAAACGCAAGGTAATTTATAT	0.408																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.e22+1		anillin, actin binding protein							99.0	90.0	93.0					7																	36483472		2203	4299	6502	SO:0001630	splice_region_variant	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36483472G>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3078+1G>A	7.37:g.36483472G>A						ANLN_ENST00000396068.2_Splice_Site		NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			22	3299	+								Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Splice_Site	SNP	ENST00000265748.2	37		CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500050	0.85176	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000428612;ENST00000457743	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6292	0.88102	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANLN	36449997	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.715000	0.98748	2.381000	0.81170	0.561000	0.74099	.		0.408	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	Intron	5	22	0	0	0	1	0	5	22				
LYST	1130	broad.mit.edu	37	1	235969653	235969653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:235969653C>T	ENST00000389794.3	-	6	2957	c.2783G>A	c.(2782-2784)gGc>gAc	p.G928D	LYST_ENST00000389793.2_Missense_Mutation_p.G928D|LYST_ENST00000536965.1_Missense_Mutation_p.G928D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	928					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTGTCATAGCCAGAAGTATC	0.458																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2782-2784)gGc>gAc		lysosomal trafficking regulator							76.0	71.0	73.0					1																	235969653		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969653C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2783G>A	1.37:g.235969653C>T	ENSP00000374444:p.Gly928Asp					LYST_ENST00000536965.1_Missense_Mutation_p.G928D|LYST_ENST00000389793.2_Missense_Mutation_p.G928D	p.G928D			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2957	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	928					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2783G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862232	0.91511	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	D;D;T	0.83075	-1.68;-1.68;-0.54	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90828	0.4714	10	0.66056	D	0.02	.	18.3871	0.90470	0.0:1.0:0.0:0.0	.	928;928	Q99698-3;Q99698	.;LYST_HUMAN	D	928	ENSP00000374444:G928D;ENSP00000374443:G928D;ENSP00000438315:G928D	ENSP00000374443:G928D	G	-	2	0	LYST	234036276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.807000	0.62576	2.439000	0.82584	0.655000	0.94253	GGC		0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			9	45	0	0	0	1	0	9	45				
TRIO	7204	broad.mit.edu	37	5	14489062	14489062	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:14489062C>T	ENST00000344204.4	+	48	7656				TRIO_ENST00000537187.1_Intron|TRIO_ENST00000344135.5_Nonsense_Mutation_p.Q5*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGCCGTCTCAAGCACAAGG	0.637																																						ENST00000344135.5																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(13-15)Caa>Taa		trio Rho guanine nucleotide exchange factor							31.0	28.0	29.0					5																	14489062		876	1991	2867	SO:0001627	intron_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14489062C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7632+693C>T	5.37:g.14489062C>T						TRIO_ENST00000344204.4_Intron|TRIO_ENST00000537187.1_Intron	p.Q5*			O75962	TRIO_HUMAN			1	506	+	Lung NSC(4;0.000742)		2480					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	c.13C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	38	7.104086	0.98066	.	.	ENSG00000038382	ENST00000344135	.	.	.	4.64	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	3.8633	0.09005	0.1658:0.581:0.1607:0.0926	.	.	.	.	X	5	.	ENSP00000339291:Q5X	Q	+	1	0	TRIO	14542062	0.010000	0.17322	0.001000	0.08648	0.556000	0.35491	0.301000	0.19174	0.217000	0.20800	0.655000	0.94253	CAA		0.637	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	10	0	0	0	1	0	4	10				
PNISR	25957	broad.mit.edu	37	6	99858820	99858820	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:99858820G>A	ENST00000369239.5	-	5	502	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	PNISR_ENST00000438806.1_Missense_Mutation_p.P100S|PNISR_ENST00000466057.1_5'Flank	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	100	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GGGTGTGGGGGTTGCTGATGC	0.453																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(298-300)Ccc>Tcc		PNN-interacting serine/arginine-rich protein							102.0	103.0	103.0					6																	99858820		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99858820G>A	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.298C>T	6.37:g.99858820G>A	ENSP00000358242:p.Pro100Ser					PNISR_ENST00000438806.1_Missense_Mutation_p.P100S	p.P100S	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			5	502	-			100			Pro-rich.		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.298C>T	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218839	0.79464	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.44482	0.92;0.92	6.08	6.08	0.98989	.	0.046027	0.85682	D	0.000000	T	0.35128	0.0921	L	0.27053	0.805	0.80722	D	1	P	0.50272	0.933	P	0.51324	0.666	T	0.02042	-1.1224	10	0.34782	T	0.22	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	100	Q8TF01	PNISR_HUMAN	S	100	ENSP00000358242:P100S;ENSP00000387997:P100S	ENSP00000358242:P100S	P	-	1	0	PNISR	99965541	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.305000	0.96197	2.894000	0.99253	0.591000	0.81541	CCC		0.453	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		24	53	0	0	0	1	0	24	53				
KIF3B	9371	broad.mit.edu	37	20	30898033	30898033	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:30898033G>A	ENST00000375712.3	+	2	620	c.453G>A	c.(451-453)gaG>gaA	p.E151E	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	151	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCAGGAGGAGATCCGAGATT	0.458																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(451-453)gaG>gaA		kinesin family member 3B							63.0	60.0	61.0					20																	30898033		2203	4300	6503	SO:0001819	synonymous_variant	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898033G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.453G>A	20.37:g.30898033G>A							p.E151E	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	620	+			151			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	c.453G>A	CCDS13200.1																																																																																				0.458	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		5	79	0	0	0	1	0	5	79				
AK9	221264	broad.mit.edu	37	6	109850161	109850161	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:109850161C>T	ENST00000424296.2	-	29	3710				AK9_ENST00000341338.6_Intron|AK9_ENST00000355283.1_Missense_Mutation_p.G308D	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ctgtaccctgccctgggcaac	0.458																																						ENST00000355283.1																			0											c.(922-924)gGc>gAc		adenylate kinase 9							38.0	36.0	36.0					6																	109850161		2202	4297	6499	SO:0001627	intron_variant	221264							g.chr6:109850161C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+52G>A	6.37:g.109850161C>T						AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron	p.G308D							5	1169	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.923G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	4.047	0.006372	0.07866	.	.	ENSG00000155085	ENST00000355283	T	0.42900	0.96	0.235	-0.47	0.12131	.	0.546598	0.11017	U	0.608806	T	0.11879	0.0289	.	.	.	0.09310	N	1	D	0.58620	0.983	B	0.42319	0.383	T	0.08785	-1.0705	7	.	.	.	.	.	.	.	.	308	Q5TCS8-5	.	D	308	ENSP00000347431:G308D	.	G	-	2	0	AKD1	109956854	0.013000	0.17824	0.003000	0.11579	0.003000	0.03518	-0.251000	0.08818	-0.661000	0.05345	-0.652000	0.03908	GGC		0.458	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		15	27	0	0	0	1	0	15	27				
CACNA1I	8911	broad.mit.edu	37	22	40066847	40066847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:40066847C>T	ENST00000402142.3	+	26	4427	c.4427C>T	c.(4426-4428)aCc>aTc	p.T1476I	CACNA1I_ENST00000336649.4_Missense_Mutation_p.T1482I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.T1476I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.T1441I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.T1441I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.T1441I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1476					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TATTGTCACACCCGGCTGCTC	0.587																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4444-4446)aCc>aTc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						131.0	144.0	140.0					22																	40066847		2175	4264	6439	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40066847C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4427C>T	22.37:g.40066847C>T	ENSP00000385019:p.Thr1476Ile					CACNA1I_ENST00000404898.1_Missense_Mutation_p.T1441I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.T1476I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.T1441I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.T1476I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.T1441I	p.T1482I			Q9P0X4	CAC1I_HUMAN			29	4445	+	Melanoma(58;0.0749)		1476					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.4445C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	8.591	0.884597	0.17467	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96522	-4.02;-3.98;-4.03;-3.99;-4.04;-3.95	3.88	3.88	0.44766	.	0.574925	0.18033	N	0.153878	D	0.90239	0.6948	N	0.16708	0.43	0.25265	N	0.989566	B;B;B;B	0.25441	0.0;0.0;0.002;0.126	B;B;B;B	0.24701	0.002;0.001;0.004;0.055	T	0.81623	-0.0849	10	0.27785	T	0.31	.	8.2399	0.31654	0.0:0.8391:0.0:0.1609	.	1441;1476;1441;1476	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	1476;1441;1476;1441;1482;1441	ENSP00000385019:T1476I;ENSP00000384093:T1441I;ENSP00000383887:T1476I;ENSP00000385680:T1441I;ENSP00000337829:T1482I;ENSP00000383028:T1441I	ENSP00000337829:T1482I	T	+	2	0	CACNA1I	38396793	0.030000	0.19436	1.000000	0.80357	0.994000	0.84299	2.039000	0.41193	1.894000	0.54839	0.650000	0.86243	ACC		0.587	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		39	111	0	0	0	1	0	39	111				
ORC1	4998	broad.mit.edu	37	1	52849585	52849585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:52849585C>T	ENST00000371568.3	-	12	1998	c.1780G>A	c.(1780-1782)Gcc>Acc	p.A594T	ORC1_ENST00000371566.1_Missense_Mutation_p.A594T	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	594	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCATGGTTGGCTGTTGCTTTT	0.512																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1780-1782)Gcc>Acc		origin recognition complex, subunit 1							161.0	143.0	149.0					1																	52849585		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52849585C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1780G>A	1.37:g.52849585C>T	ENSP00000360623:p.Ala594Thr					ORC1_ENST00000371566.1_Missense_Mutation_p.A594T	p.A594T	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			12	1998	-			594			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.1780G>A	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717835	0.68844	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	D;D	0.93488	-3.23;-3.23	5.84	5.84	0.93424	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.047082	0.85682	D	0.000000	D	0.93973	0.8070	M	0.70595	2.14	0.80722	D	1	B;P	0.35944	0.186;0.529	B;P	0.45506	0.279;0.483	D	0.90934	0.4792	10	0.06757	T	0.87	-10.3944	20.1277	0.97990	0.0:1.0:0.0:0.0	.	589;594	B7Z8H0;Q13415	.;ORC1_HUMAN	T	594	ENSP00000360623:A594T;ENSP00000360621:A594T	ENSP00000360621:A594T	A	-	1	0	ORC1	52622173	0.916000	0.31088	0.999000	0.59377	0.643000	0.38383	1.871000	0.39539	2.755000	0.94549	0.563000	0.77884	GCC		0.512	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		4	67	0	0	0	1	0	4	67				
DUSP4	1846	broad.mit.edu	37	8	29197731	29197731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:29197731G>A	ENST00000240100.2	-	2	852	c.463C>T	c.(463-465)Cca>Tca	p.P155S	DUSP4_ENST00000240101.2_Missense_Mutation_p.P64S	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	155	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|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)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CAGAATTCTGGGTACTCGGAG	0.567											OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000240100.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(463-465)Cca>Tca		dual specificity phosphatase 4							24.0	30.0	28.0					8																	29197731		2203	4300	6503	SO:0001583	missense	1846				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29197731G>A	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.463C>T	8.37:g.29197731G>A	ENSP00000240100:p.Pro155Ser		OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	807	DUSP4_ENST00000240101.2_Missense_Mutation_p.P64S	p.P155S	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	2	852	-			155			Rhodanese.		B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	c.463C>T	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643344	0.67244	.	.	ENSG00000120875	ENST00000240100;ENST00000240101	T;T	0.48522	0.81;3.59	5.01	5.01	0.66863	Rhodanese-like (4);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	L	0.59967	1.855	0.80722	D	1	B;P	0.44429	0.403;0.835	B;B	0.42738	0.178;0.396	T	0.49978	-0.8881	10	0.41790	T	0.15	.	16.6444	0.85173	0.0:0.0:1.0:0.0	.	155;64	Q13115;G5E930	DUS4_HUMAN;.	S	155;64	ENSP00000240100:P155S;ENSP00000240101:P64S	ENSP00000240100:P155S	P	-	1	0	DUSP4	29253650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.470000	0.73558	2.720000	0.93068	0.650000	0.86243	CCA		0.567	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		4	16	0	0	0	1	0	4	16				
CYP2S1	29785	broad.mit.edu	37	19	41707278	41707278	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:41707278G>A	ENST00000310054.4	+	6	1192		c.e6+1		CYP2S1_ENST00000542619.1_Splice_Site	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CATGTCCAAAGTAAGAGCCTT	0.522																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.e6+1		cytochrome P450, family 2, subfamily S, polypeptide 1							118.0	106.0	110.0					19																	41707278		2203	4300	6503	SO:0001630	splice_region_variant	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41707278G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.976+1G>A	19.37:g.41707278G>A						CYP2S1_ENST00000542619.1_Splice_Site		NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			6	1192	+								Q9BZ66	Splice_Site	SNP	ENST00000310054.4	37		CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.980868	0.74474	.	.	ENSG00000167600	ENST00000301173;ENST00000310054;ENST00000542619	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2815	0.82692	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2S1	46399118	1.000000	0.71417	0.505000	0.27651	0.846000	0.48090	8.032000	0.88838	2.433000	0.82419	0.478000	0.44815	.		0.522	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1		Intron	12	104	0	0	0	1	0	12	104				
ZNF484	83744	broad.mit.edu	37	9	95610559	95610559	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:95610559G>A	ENST00000375495.3	-	5	658	c.510C>T	c.(508-510)tcC>tcT	p.S170S	ZNF484_ENST00000395506.3_Silent_p.S172S|ZNF484_ENST00000332591.6_Silent_p.S134S|ZNF484_ENST00000395505.2_Silent_p.S134S|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTTTTCTTGAGGAAACCAGGT	0.353																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(400-402)tcC>tcT		zinc finger protein 484							174.0	174.0	174.0					9																	95610559		2203	4300	6503	SO:0001819	synonymous_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610559G>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.510C>T	9.37:g.95610559G>A						ZNF484_ENST00000332591.6_Silent_p.S134S|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Silent_p.S170S|ZNF484_ENST00000395506.3_Silent_p.S172S	p.S134S	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	494	-			170					B1AL89|B4DRI2	Silent	SNP	ENST00000375495.3	37	c.402C>T	CCDS35066.1																																																																																				0.353	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		40	102	0	0	0	1	0	40	102				
USP6	9098	broad.mit.edu	37	17	5042789	5042789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5042789G>A	ENST00000574788.1	+	22	3548	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R	USP6_ENST00000250066.6_Missense_Mutation_p.G440R|USP6_ENST00000332776.4_Missense_Mutation_p.G440R|USP6_ENST00000304328.5_Missense_Mutation_p.G123R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	440					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCTGGCTCAGGGAGGACCTCA	0.612			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1318-1320)Gga>Aga		ubiquitin specific peptidase 6 (Tre-2 oncogene)							51.0	57.0	55.0					17																	5042789		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042789G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1318G>A	17.37:g.5042789G>A	ENSP00000460380:p.Gly440Arg					USP6_ENST00000304328.5_Missense_Mutation_p.G123R|USP6_ENST00000332776.4_Missense_Mutation_p.G440R|USP6_ENST00000250066.6_Missense_Mutation_p.G440R	p.G440R			P35125	UBP6_HUMAN			22	3548	+			440					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1318G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675017	0.29783	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.33216	2.12;2.61;1.42	0.0465	0.0465	0.14256	.	0.091772	0.85682	D	0.000000	T	0.31358	0.0794	N	0.19112	0.55	0.09310	N	1	D;D	0.69078	0.997;0.994	D;D	0.72982	0.979;0.953	T	0.10706	-1.0618	9	0.40728	T	0.16	.	.	.	.	.	123;440	P35125-2;P35125	.;UBP6_HUMAN	R	440;440;123	ENSP00000328010:G440R;ENSP00000250066:G440R;ENSP00000305473:G123R	ENSP00000250066:G440R	G	+	1	0	USP6	4983513	0.604000	0.26932	0.048000	0.18961	0.049000	0.14656	1.033000	0.30191	0.132000	0.18615	0.134000	0.15878	GGA		0.612	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		23	43	0	0	0	1	0	23	43				
SPATA2L	124044	broad.mit.edu	37	16	89764423	89764423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89764423C>T	ENST00000289805.5	-	3	662	c.594G>A	c.(592-594)tgG>tgA	p.W198*	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	198										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GCTGCTGCAGCCAGGCCACAC	0.706																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(592-594)tgG>tgA		spermatogenesis associated 2-like							8.0	9.0	9.0					16																	89764423		2088	4096	6184	SO:0001587	stop_gained	124044							g.chr16:89764423C>T	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.594G>A	16.37:g.89764423C>T	ENSP00000289805:p.Trp198*					SPATA2L_ENST00000335360.7_Intron	p.W198*	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	662	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	198					D3DX85|Q8NHV3	Nonsense_Mutation	SNP	ENST00000289805.5	37	c.594G>A	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272835	0.80580	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.72	2.68	0.31781	.	0.710667	0.13359	N	0.393796	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.8608	0.29509	0.0:0.7476:0.1605:0.0919	.	.	.	.	X	198	.	ENSP00000289805:W198X	W	-	3	0	SPATA2L	88291924	0.987000	0.35691	1.000000	0.80357	0.989000	0.77384	1.359000	0.34113	0.944000	0.37579	0.462000	0.41574	TGG		0.706	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		12	18	0	0	0	1	0	12	18				
PLCB1	23236	broad.mit.edu	37	20	8770872	8770872	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:8770872G>A	ENST00000338037.6	+	31	3414	c.3387G>A	c.(3385-3387)aaG>aaA	p.K1129K	PLCB1_ENST00000378637.2_Silent_p.K1129K|PLCB1_ENST00000378641.3_Silent_p.K1129K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1129					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAAACACAAGGAAATACGTC	0.323																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(3385-3387)aaG>aaA		phospholipase C, beta 1 (phosphoinositide-specific)							64.0	64.0	64.0					20																	8770872		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8770872G>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3387G>A	20.37:g.8770872G>A						PLCB1_ENST00000378637.2_Silent_p.K1129K|PLCB1_ENST00000338037.6_Silent_p.K1129K	p.K1129K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			31	3862	+			1129					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.3387G>A	CCDS13102.1																																																																																				0.323	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			10	20	0	0	0	1	0	10	20				
TLE3	7090	broad.mit.edu	37	15	70366878	70366878	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:70366878G>A	ENST00000558939.1	-	6	1743	c.366C>T	c.(364-366)atC>atT	p.I122I	TLE3_ENST00000317509.8_Silent_p.I122I|TLE3_ENST00000557997.1_Silent_p.I122I|TLE3_ENST00000558379.1_Silent_p.I122I|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000560939.1_Silent_p.I128I|TLE3_ENST00000440567.3_Silent_p.I115I|TLE3_ENST00000539550.1_Silent_p.I56I|TLE3_ENST00000442299.2_Silent_p.I122I|TLE3_ENST00000558201.1_Silent_p.I128I|TLE3_ENST00000559048.1_Silent_p.I128I|TLE3_ENST00000559929.1_Silent_p.I122I|TLE3_ENST00000451782.2_Silent_p.I122I|TLE3_ENST00000560589.1_Silent_p.I66I|TLE3_ENST00000557907.1_Silent_p.I122I	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	122	Gln-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTACCCCGATGATGGCGTTCA	0.562																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(364-366)atC>atT		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							86.0	94.0	91.0					15																	70366878		2189	4288	6477	SO:0001819	synonymous_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70366878G>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.366C>T	15.37:g.70366878G>A						TLE3_ENST00000559929.1_Silent_p.I122I|TLE3_ENST00000559048.1_Silent_p.I128I|TLE3_ENST00000558201.1_Silent_p.I128I|TLE3_ENST00000557907.1_Silent_p.I122I|TLE3_ENST00000560939.1_Silent_p.I128I|TLE3_ENST00000558379.1_Silent_p.I122I|TLE3_ENST00000557997.1_Silent_p.I122I|TLE3_ENST00000539550.1_Silent_p.I56I|TLE3_ENST00000317509.8_Silent_p.I122I|TLE3_ENST00000440567.3_Silent_p.I115I|TLE3_ENST00000560589.1_Silent_p.I66I|TLE3_ENST00000451782.2_Silent_p.I122I|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000442299.2_Silent_p.I122I	p.I122I			Q04726	TLE3_HUMAN			6	1743	-			122			Gln-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	c.366C>T	CCDS45293.1																																																																																				0.562	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		8	21	0	0	0	1	0	8	21				
RALGAPA1	253959	broad.mit.edu	37	14	36143452	36143452	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:36143452G>A	ENST00000389698.3	-	23	3723	c.3333C>T	c.(3331-3333)aaC>aaT	p.N1111N	RALGAPA1_ENST00000382366.3_Silent_p.N1124N|RALGAPA1_ENST00000307138.6_Silent_p.N1111N|RALGAPA1_ENST00000258840.6_Silent_p.N1158N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1111					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGAGGTCAGGTTATCAGTTG	0.323																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3472-3474)aaC>aaT		Ral GTPase activating protein, alpha subunit 1 (catalytic)							52.0	58.0	56.0					14																	36143452		2203	4297	6500	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36143452G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3333C>T	14.37:g.36143452G>A						RALGAPA1_ENST00000389698.3_Silent_p.N1111N|RALGAPA1_ENST00000307138.6_Silent_p.N1111N|RALGAPA1_ENST00000382366.3_Silent_p.N1124N	p.N1158N			Q6GYQ0	RGPA1_HUMAN			24	3864	-			1111					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.3474C>T	CCDS32065.1																																																																																				0.323	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		11	27	0	0	0	1	0	11	27				
MEST	4232	broad.mit.edu	37	7	130140321	130140321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:130140321G>A	ENST00000223215.4	+	8	816	c.595G>A	c.(595-597)Gtg>Atg	p.V199M	hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000416162.2_Missense_Mutation_p.V190M|MEST_ENST00000341441.5_Missense_Mutation_p.V190M|MEST_ENST00000378576.4_Missense_Mutation_p.V190M|MEST_ENST00000393187.1_Missense_Mutation_p.V190M|MEST_ENST00000437945.1_Missense_Mutation_p.V199M|MEST_ENST00000462132.1_3'UTR	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	199					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AGATGGAGGTGTGCTGTCACC	0.468																																					Colon(126;2182 2305 6517 35181)	ENST00000223215.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.(595-597)Gtg>Atg		mesoderm specific transcript							78.0	66.0	70.0					7																	130140321		2203	4299	6502	SO:0001583	missense	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130140321G>A		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.595G>A	7.37:g.130140321G>A	ENSP00000223215:p.Val199Met					MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.V199M|MEST_ENST00000378576.4_Missense_Mutation_p.V190M|MEST_ENST00000341441.4_Missense_Mutation_p.V190M|MEST_ENST00000416162.2_Missense_Mutation_p.V190M|MEST_ENST00000393187.1_Missense_Mutation_p.V190M	p.V199M	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN			8	816	+	Melanoma(18;0.0435)		199					B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	c.595G>A	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575523	0.28092	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945	T;T;T;T;T;T;T;T	0.66815	3.76;-0.23;-0.23;-0.23;3.76;0.89;3.76;3.76	5.98	-0.594	0.11664	.	0.477364	0.25011	N	0.033828	T	0.46908	0.1417	L	0.34521	1.04	0.09310	N	0.999999	B;B;B;B	0.22851	0.015;0.036;0.003;0.076	B;B;B;B	0.29663	0.037;0.025;0.015;0.105	T	0.23797	-1.0178	10	0.33940	T	0.23	.	2.059	0.03587	0.4006:0.2748:0.2168:0.1079	.	185;199;199;190	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	M	190;190;190;190;190;190;199;199	ENSP00000342749:V190M;ENSP00000409505:V190M;ENSP00000408933:V190M;ENSP00000367839:V190M;ENSP00000376884:V190M;ENSP00000407222:V190M;ENSP00000223215:V199M;ENSP00000401657:V199M	ENSP00000223215:V199M	V	+	1	0	MEST	129927557	0.000000	0.05858	0.087000	0.20705	0.804000	0.45430	-1.098000	0.03346	-0.091000	0.12440	0.650000	0.86243	GTG		0.468	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		9	46	0	0	0	1	0	9	46				
SLC46A2	57864	broad.mit.edu	37	9	115652286	115652286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:115652286C>T	ENST00000374228.4	-	1	907	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	226					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						ACCTTTAGCACCAAAAGGCTG	0.612																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(676-678)Gtg>Atg		solute carrier family 46, member 2							53.0	46.0	48.0					9																	115652286		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652286C>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.676G>A	9.37:g.115652286C>T	ENSP00000363345:p.Val226Met						p.V226M	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			1	907	-			226					B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.676G>A	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227619	0.58668	.	.	ENSG00000119457	ENST00000374228	D	0.81579	-1.51	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.42682	D	0.000680	D	0.85274	0.5659	L	0.51422	1.61	0.37901	D	0.931033	D	0.76494	0.999	D	0.74348	0.983	D	0.85321	0.1084	10	0.36615	T	0.2	-32.9468	12.2447	0.54563	0.0:0.9212:0.0:0.0788	.	226	Q9BY10	TSCOT_HUMAN	M	226	ENSP00000363345:V226M	ENSP00000363345:V226M	V	-	1	0	SLC46A2	114692107	0.998000	0.40836	1.000000	0.80357	0.925000	0.55904	2.731000	0.47343	2.533000	0.85409	0.549000	0.68633	GTG		0.612	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		5	58	0	0	0	1	0	5	58				
BBX	56987	broad.mit.edu	37	3	107517542	107517542	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:107517542G>A	ENST00000325805.8	+	16	2813	c.2526G>A	c.(2524-2526)cgG>cgA	p.R842R	BBX_ENST00000415149.2_Silent_p.R812R|BBX_ENST00000402543.1_Silent_p.R792R|BBX_ENST00000416476.2_Missense_Mutation_p.G506E|BBX_ENST00000406780.1_Silent_p.R812R			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	842					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAGATGGCCGGGTATCACCAG	0.493																																						ENST00000416476.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1516-1518)gGg>gAg		bobby sox homolog (Drosophila)							75.0	75.0	75.0					3																	107517542		2203	4300	6503	SO:0001819	synonymous_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107517542G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2526G>A	3.37:g.107517542G>A						BBX_ENST00000325805.8_Silent_p.R842R|BBX_ENST00000402543.1_Silent_p.R792R|BBX_ENST00000406780.1_Silent_p.R812R|BBX_ENST00000415149.2_Silent_p.R812R	p.G506E			Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		15	1737	+			0			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1517G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904871	0.52333	.	.	ENSG00000114439	ENST00000416476	D	0.99232	-5.6	5.96	3.07	0.35406	.	.	.	.	.	D	0.97614	0.9218	.	.	.	0.80722	D	1	B;B	0.14805	0.011;0.004	B;B	0.16722	0.016;0.002	D	0.94883	0.8041	8	0.87932	D	0	-6.7741	8.8319	0.35089	0.3556:0.0:0.6444:0.0	.	123;506	Q9NRU5;A2RRM7	.;.	E	506	ENSP00000403860:G506E	ENSP00000403860:G506E	G	+	2	0	BBX	109000232	0.994000	0.37717	0.999000	0.59377	0.991000	0.79684	0.201000	0.17276	0.339000	0.23719	0.655000	0.94253	GGG		0.493	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		16	22	0	0	0	1	0	16	22				
HNRNPA3	220988	broad.mit.edu	37	2	178080590	178080590	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:178080590G>A	ENST00000392524.2	+	3	545	c.308G>A	c.(307-309)cGt>cAt	p.R103H	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R103H|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.R81H			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	103	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GTTGATGGGCGTGTAGTGGAA	0.393																																						ENST00000411529.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						c.(241-243)cGt>cAt		heterogeneous nuclear ribonucleoprotein A3							84.0	87.0	86.0					2																	178080590		2203	4300	6503	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178080590G>A	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.308G>A	2.37:g.178080590G>A	ENSP00000376309:p.Arg103His					HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R103H|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R103H	p.R81H	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN			3	293	+			103			RRM 1.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.242G>A	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568867	0.65765	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.92595	-3.07;-3.07;-3.07	4.2	4.2	0.49525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.144445	0.32028	N	0.006690	D	0.90338	0.6977	M	0.65975	2.015	0.80722	D	1	B;P	0.35481	0.357;0.504	B;B	0.29862	0.108;0.034	D	0.91729	0.5395	10	0.87932	D	0	.	16.9473	0.86232	0.0:0.0:1.0:0.0	.	81;103	B4DDB6;P51991	.;ROA3_HUMAN	H	103;81;81;81;103	ENSP00000376309:R103H;ENSP00000408487:R81H;ENSP00000416340:R103H	ENSP00000376309:R103H	R	+	2	0	HNRNPA3	177788836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.720000	0.98763	2.077000	0.62373	0.467000	0.42956	CGT		0.393	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		13	92	0	0	0	1	0	13	92				
RPRD2	23248	broad.mit.edu	37	1	150443887	150443887	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:150443887C>T	ENST00000369068.4	+	11	2467	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Silent_p.F795F|RPRD2_ENST00000539519.1_Silent_p.F795F	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	821	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				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						AGGAAAAGTTCTACCCAGATA	0.473																																						ENST00000401000.4																			0				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						c.(2383-2385)ttC>ttT		regulation of nuclear pre-mRNA domain containing 2							55.0	50.0	52.0					1																	150443887		1864	4100	5964	SO:0001819	synonymous_variant	23248						protein binding	g.chr1:150443887C>T	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.2463C>T	1.37:g.150443887C>T						RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Silent_p.F795F|RPRD2_ENST00000369068.4_Silent_p.F821F	p.F795F			Q5VT52	RPRD2_HUMAN			10	2450	+			821			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	c.2385C>T	CCDS44216.1																																																																																				0.473	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		13	25	0	0	0	1	0	13	25				
CFTR	1080	broad.mit.edu	37	7	117230420	117230420	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:117230420G>A	ENST00000003084.6	+	13	1825	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	CFTR_ENST00000454343.1_Missense_Mutation_p.D504N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	565	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.D565Y(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)	AGTATACAAAGATGCTGATTT	0.294									Cystic Fibrosis																													ENST00000003084.6																			1	Substitution - Missense(1)	p.D565Y(1)	large_intestine(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						c.(1693-1695)Gat>Aat		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						82.0	91.0	88.0					7																	117230420		2202	4291	6493	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117230420G>A	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.1693G>A	7.37:g.117230420G>A	ENSP00000003084:p.Asp565Asn					CFTR_ENST00000454343.1_Missense_Mutation_p.D504N	p.D565N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		13	1825	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		565			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1693G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801143	0.90538	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90563	-2.69;-2.69;-2.69	4.83	4.83	0.62350	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	N	0.26042	0.785	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.92216	0.5780	10	0.44086	T	0.13	-17.5483	17.9064	0.88919	0.0:0.0:1.0:0.0	.	565	P13569	CFTR_HUMAN	N	565;504;535	ENSP00000003084:D565N;ENSP00000403677:D504N;ENSP00000389119:D535N	ENSP00000003084:D565N	D	+	1	0	CFTR	117017656	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.148000	0.94652	2.386000	0.81285	0.563000	0.77884	GAT		0.294	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		68	244	0	0	0	1	0	68	244				
TTC7A	57217	broad.mit.edu	37	2	47256426	47256426	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:47256426C>T	ENST00000319190.5	+	15	2073	c.1705C>T	c.(1705-1707)Ctc>Ttc	p.L569F	TTC7A_ENST00000409245.1_Missense_Mutation_p.L535F|TTC7A_ENST00000394850.2_Missense_Mutation_p.L569F|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.L215F	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	569					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGCCCACGCCCTCCACCTGCT	0.597																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1705-1707)Ctc>Ttc		tetratricopeptide repeat domain 7A							139.0	116.0	124.0					2																	47256426		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47256426C>T	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1705C>T	2.37:g.47256426C>T	ENSP00000316699:p.Leu569Phe					TTC7A_ENST00000394850.2_Missense_Mutation_p.L569F|TTC7A_ENST00000409245.1_Missense_Mutation_p.L535F|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.L215F	p.L569F	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		15	2073	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	569					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.1705C>T	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093177	0.76756	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;1.0;0.999;0.993	T	0.74469	-0.3655	10	0.49607	T	0.09	-21.3739	11.704	0.51587	0.0:0.9185:0.0:0.0815	.	569;535;569;397;535	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	F	535;569;569;215;396	ENSP00000386307:L535F;ENSP00000316699:L569F;ENSP00000378320:L569F;ENSP00000263737:L215F	ENSP00000263737:L215F	L	+	1	0	TTC7A	47109930	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	5.341000	0.65964	2.605000	0.88082	0.655000	0.94253	CTC		0.597	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		16	32	0	0	0	1	0	16	32				
LIMD1	8994	broad.mit.edu	37	3	45636812	45636812	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:45636812C>T	ENST00000273317.4	+	1	462	c.441C>T	c.(439-441)gaC>gaT	p.D147D	AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000440097.1_Silent_p.D147D|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	147					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCAGCCAGGACTGTGGTTCCA	0.622																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(439-441)gaC>gaT		LIM domains containing 1							50.0	55.0	53.0					3																	45636812		2203	4299	6502	SO:0001819	synonymous_variant	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636812C>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.441C>T	3.37:g.45636812C>T						LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.D147D	p.D147D	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	462	+			147					Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	ENST00000273317.4	37	c.441C>T	CCDS2729.1																																																																																				0.622	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		4	82	0	0	0	1	0	4	82				
ITIH5	80760	broad.mit.edu	37	10	7618512	7618512	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:7618512G>A	ENST00000256861.6	-	10	1960	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	ITIH5_ENST00000298441.6_Missense_Mutation_p.P414S|ITIH5_ENST00000446830.2_Missense_Mutation_p.P410S|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.P628S|ITIH5_ENST00000397146.2_Missense_Mutation_p.P628S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	628					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCCATGCGTGGGACCGGCCCC	0.687																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1882-1884)Cca>Tca		inter-alpha-trypsin inhibitor heavy chain family, member 5							33.0	35.0	34.0					10																	7618512		2202	4299	6501	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618512G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1882C>T	10.37:g.7618512G>A	ENSP00000256861:p.Pro628Ser					ITIH5_ENST00000446830.2_Missense_Mutation_p.P410S|ITIH5_ENST00000397146.2_Missense_Mutation_p.P628S|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.P628S|ITIH5_ENST00000298441.6_Missense_Mutation_p.P414S	p.P628S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1960	-			628					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1882C>T		.	.	.	.	.	.	.	.	.	.	G	2.663	-0.279302	0.05642	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.03330	3.97;3.97;3.97;3.97;3.97	5.33	-2.17	0.07059	.	3.333000	0.00654	N	0.000564	T	0.01800	0.0057	.	.	.	0.09310	N	1	B;B;B	0.11235	0.0;0.002;0.004	B;B;B	0.09377	0.001;0.003;0.004	T	0.40117	-0.9580	9	0.09338	T	0.73	5.9966	2.5637	0.04778	0.2014:0.321:0.3583:0.1193	.	628;628;414	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	S	628;628;414;410;628	ENSP00000256861:P628S;ENSP00000380333:P628S;ENSP00000298441:P414S;ENSP00000387969:P410S;ENSP00000380332:P628S	ENSP00000256861:P628S	P	-	1	0	ITIH5	7658518	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.204000	0.09425	-0.049000	0.13379	-0.219000	0.12488	CCA		0.687	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		18	40	0	0	0	1	0	18	40				
RHOJ	57381	broad.mit.edu	37	14	63735866	63735866	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:63735866C>T	ENST00000316754.3	+	2	679	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.L73L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	73					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CTTGCTCGGACTGTATGACAC	0.463																																						ENST00000316754.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21						c.(217-219)Ctg>Ttg		ras homolog family member J							140.0	122.0	128.0					14																	63735866		2203	4300	6503	SO:0001819	synonymous_variant	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63735866C>T	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.217C>T	14.37:g.63735866C>T						RHOJ_ENST00000555125.1_Silent_p.L73L|RHOJ_ENST00000557133.1_3'UTR	p.L73L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	2	679	+			73					Q96KC1	Silent	SNP	ENST00000316754.3	37	c.217C>T	CCDS9757.1																																																																																				0.463	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			5	38	0	0	0	1	0	5	38				
SMIM7	79086	broad.mit.edu	37	19	16770218	16770218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:16770218C>T	ENST00000487416.2	-	3	155	c.109G>A	c.(109-111)Gag>Aag	p.E37K	CTC-429P9.4_ENST00000593962.1_5'UTR|TMEM38A_ENST00000187762.2_5'Flank|SMIM7_ENST00000597711.1_Missense_Mutation_p.E37K|SMIM7_ENST00000358726.6_Missense_Mutation_p.E37K|CTC-429P9.4_ENST00000600705.1_Missense_Mutation_p.E37K|SMIM7_ENST00000397349.2_5'UTR	NM_024104.3	NP_077009.2	Q9BQ49	SMIM7_HUMAN	small integral membrane protein 7	37						integral component of membrane (GO:0016021)											GTGCTGGGCTCCCTGGACTCC	0.512																																						ENST00000487416.2																			0											c.(109-111)Gag>Aag		small integral membrane protein 7							72.0	78.0	76.0					19																	16770218		1942	4151	6093	SO:0001583	missense	79086							g.chr19:16770218C>T	AK025602	CCDS12348.2, CCDS74307.1	19p13.11	2012-10-26	2012-10-26	2012-10-26	ENSG00000214046	ENSG00000214046			28419	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 42"""	C19orf42		12477932	Standard	NM_024104		Approved	MGC2747	uc002ner.3	Q9BQ49	OTTHUMG00000149895	ENST00000487416.2:c.109G>A	19.37:g.16770218C>T	ENSP00000417147:p.Glu37Lys					SMIM7_ENST00000597711.1_Missense_Mutation_p.E37K|SMIM7_ENST00000358726.6_Missense_Mutation_p.E37K|CTC-429P9.4_ENST00000600705.1_Missense_Mutation_p.E37K|CTC-429P9.4_ENST00000593962.1_5'UTR|SMIM7_ENST00000397349.2_5'UTR	p.E37K	NM_024104.3	NP_077009.2					3	155	-								A8MX44	Missense_Mutation	SNP	ENST00000487416.2	37	c.109G>A	CCDS12348.2	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567997	0.65651	.	.	ENSG00000214046	ENST00000487416;ENST00000358726	.	.	.	4.53	4.53	0.55603	.	0.461311	0.16164	U	0.226613	T	0.36496	0.0969	.	.	.	0.31188	N	0.701256	B	0.18166	0.026	B	0.16289	0.015	T	0.32587	-0.9901	8	0.38643	T	0.18	-19.3782	12.9781	0.58547	0.0:1.0:0.0:0.0	.	37	Q9BQ49	CS042_HUMAN	K	37	.	ENSP00000351569:E37K	E	-	1	0	C19orf42	16631218	0.700000	0.27796	0.991000	0.47740	0.813000	0.45954	1.370000	0.34238	2.518000	0.84900	0.650000	0.86243	GAG		0.512	SMIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313801.2	NM_024104		10	18	0	0	0	1	0	10	18				
PXDNL	137902	broad.mit.edu	37	8	52325792	52325792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:52325792C>T	ENST00000356297.4	-	15	1922	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D608N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	608					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCAACAAAGTCATCGCCAGCT	0.343																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1822-1824)Gac>Aac		peroxidasin homolog (Drosophila)-like							127.0	123.0	124.0					8																	52325792		1881	4118	5999	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52325792C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1822G>A	8.37:g.52325792C>T	ENSP00000348645:p.Asp608Asn					PXDNL_ENST00000543296.1_Missense_Mutation_p.D608N	p.D608N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			15	1922	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	608					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1822G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	1.919	-0.448896	0.04572	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.65549	-0.14;-0.16	4.84	3.83	0.44106	.	.	.	.	.	T	0.39627	0.1085	N	0.19112	0.55	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.17501	-1.0367	9	0.14656	T	0.56	.	3.8263	0.08855	0.0:0.5853:0.2559:0.1588	.	608	A1KZ92	PXDNL_HUMAN	N	608	ENSP00000348645:D608N;ENSP00000444865:D608N	ENSP00000348645:D608N	D	-	1	0	PXDNL	52488345	0.000000	0.05858	0.319000	0.25293	0.038000	0.13279	-0.009000	0.12765	2.236000	0.73375	0.655000	0.94253	GAC		0.343	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		10	37	0	0	0	1	0	10	37				
MYO3A	53904	broad.mit.edu	37	10	26414438	26414438	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:26414438C>T	ENST00000265944.5	+	19	2181	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	672	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAAGCTACCGATGTCAGG	0.433																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2014-2016)aCc>aTc		myosin IIIA							128.0	126.0	127.0					10																	26414438		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26414438C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2015C>T	10.37:g.26414438C>T	ENSP00000265944:p.Thr672Ile					MYO3A_ENST00000543632.1_Intron	p.T672I	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			19	2181	+			672			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2015C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089322	0.36855	.	.	ENSG00000095777	ENST00000265944	D	0.87491	-2.26	5.91	2.69	0.31865	Myosin head, motor domain (2);	0.363320	0.34777	N	0.003699	T	0.77980	0.4212	L	0.33792	1.035	0.09310	N	0.999999	B	0.34061	0.436	B	0.32342	0.144	T	0.64415	-0.6413	10	0.23891	T	0.37	.	11.1682	0.48556	0.2413:0.6932:0.0:0.0655	.	672	Q8NEV4	MYO3A_HUMAN	I	672	ENSP00000265944:T672I	ENSP00000265944:T672I	T	+	2	0	MYO3A	26454444	0.019000	0.18553	0.664000	0.29753	0.948000	0.59901	1.152000	0.31663	0.804000	0.34136	0.585000	0.79938	ACC		0.433	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		48	150	0	0	0	1	0	48	150				
HTR2B	3357	broad.mit.edu	37	2	231978509	231978509	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:231978509C>T	ENST00000258400.3	-	3	999	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	163					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	TATTGATTGGCCTGGATTGGC	0.428																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(487-489)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						251.0	229.0	236.0					2																	231978509		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231978509C>T		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.487G>A	2.37:g.231978509C>T	ENSP00000258400:p.Ala163Thr					PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	p.A163T	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	3	999	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	163					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.487G>A	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413143	0.62511	.	.	ENSG00000135914	ENST00000258400	T	0.19669	2.13	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.100211	0.64402	D	0.000002	T	0.41811	0.1175	L	0.53249	1.67	0.47009	D	0.999281	D	0.61697	0.99	P	0.62298	0.9	T	0.23048	-1.0199	10	0.72032	D	0.01	.	19.0824	0.93187	0.0:1.0:0.0:0.0	.	163	P41595	5HT2B_HUMAN	T	163	ENSP00000258400:A163T	ENSP00000258400:A163T	A	-	1	0	HTR2B	231686753	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.281000	0.72632	2.584000	0.87258	0.467000	0.42956	GCC		0.428	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		10	207	0	0	0	1	0	10	207				
KRTAP5-11	440051	broad.mit.edu	37	11	71293689	71293689	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:71293689C>T	ENST00000398530.1	-	1	232	c.195G>A	c.(193-195)ggG>ggA	p.G65G	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	65	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCACAGCCCCCTTTGGAGC	0.627																																						ENST00000398530.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(193-195)ggG>ggA		keratin associated protein 5-11							96.0	121.0	113.0					11																	71293689		2200	4293	6493	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293689C>T	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.195G>A	11.37:g.71293689C>T						AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	p.G65G	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN			1	232	-			65			6 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000398530.1	37	c.195G>A	CCDS41685.1																																																																																				0.627	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		7	209	0	0	0	1	0	7	209				
RERE	473	broad.mit.edu	37	1	8716177	8716177	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:8716177G>A	ENST00000337907.3	-	3	814	c.180C>T	c.(178-180)gaC>gaT	p.D60D	RERE_ENST00000400908.2_Silent_p.D60D|RERE_ENST00000400907.2_Silent_p.D60D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	60					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGTTGTCATTGTCCTCGTCTT	0.463																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(178-180)gaC>gaT		arginine-glutamic acid dipeptide (RE) repeats							323.0	312.0	315.0					1																	8716177		2203	4300	6503	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716177G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.180C>T	1.37:g.8716177G>A						RERE_ENST00000400908.2_Silent_p.D60D|RERE_ENST00000400907.2_Silent_p.D60D	p.D60D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	814	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	60					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.180C>T	CCDS95.1																																																																																				0.463	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			26	182	0	0	0	1	0	26	182				
SOBP	55084	broad.mit.edu	37	6	107955132	107955132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:107955132C>T	ENST00000317357.5	+	6	1743	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCCAAATATCCCTCCTGTCTC	0.632																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1084-1086)Cct>Tct		sine oculis binding protein homolog (Drosophila)							96.0	107.0	103.0					6																	107955132		2078	4204	6282	SO:0001583	missense	55084						metal ion binding	g.chr6:107955132C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1084C>T	6.37:g.107955132C>T	ENSP00000318900:p.Pro362Ser						p.P362S	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1743	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	362			Pro-rich.			Missense_Mutation	SNP	ENST00000317357.5	37	c.1084C>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451487	0.63290	.	.	ENSG00000112320	ENST00000317357	T	0.30714	1.52	5.7	5.7	0.88788	.	0.137047	0.48767	N	0.000163	T	0.37705	0.1013	L	0.44542	1.39	0.53005	D	0.99996	D	0.56035	0.974	P	0.58721	0.844	T	0.06427	-1.0827	10	0.54805	T	0.06	-4.7705	19.8218	0.96599	0.0:1.0:0.0:0.0	.	362	A7XYQ1	SOBP_HUMAN	S	362	ENSP00000318900:P362S	ENSP00000318900:P362S	P	+	1	0	SOBP	108061825	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.328000	0.59253	2.678000	0.91216	0.655000	0.94253	CCT		0.632	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		28	55	0	0	0	1	0	28	55				
KIAA1683	80726	broad.mit.edu	37	19	18368852	18368852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18368852C>T	ENST00000600328.3	-	4	2874	c.2681G>A	c.(2680-2682)gGt>gAt	p.G894D	KIAA1683_ENST00000392413.4_Missense_Mutation_p.G1081D|KIAA1683_ENST00000600359.3_Missense_Mutation_p.G848D|PDE4C_ENST00000355502.3_5'Flank|PDE4C_ENST00000596647.1_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	894						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGACGCAGCACCCCTGGCTGG	0.657																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3241-3243)gGt>gAt		KIAA1683							64.0	63.0	63.0					19																	18368852		2203	4293	6496	SO:0001583	missense	80726					mitochondrion		g.chr19:18368852C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2681G>A	19.37:g.18368852C>T	ENSP00000470780:p.Gly894Asp					KIAA1683_ENST00000600359.2_Missense_Mutation_p.G848D|KIAA1683_ENST00000600328.2_Missense_Mutation_p.G894D	p.G1081D	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3457	-			1092					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.3242G>A	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014182	0.35511	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.03772	3.95;3.89;3.81	2.86	-0.987	0.10249	.	1.824540	0.03433	N	0.208163	T	0.08044	0.0201	L	0.27053	0.805	0.09310	N	1	P;D	0.69078	0.943;0.997	P;D	0.63488	0.69;0.915	T	0.29366	-1.0014	10	0.23891	T	0.37	-3.9623	1.3625	0.02194	0.2011:0.3803:0.2803:0.1384	.	1081;894	E9PDE0;Q9H0B3	.;K1683_HUMAN	D	1081;894;848;158;508	ENSP00000376213:G1081D;ENSP00000352774:G894D;ENSP00000404501:G848D	ENSP00000352774:G894D	G	-	2	0	KIAA1683	18229852	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.319000	0.02702	-0.083000	0.12618	-0.379000	0.06801	GGT		0.657	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			7	101	0	0	0	1	0	7	101				
MYH14	79784	broad.mit.edu	37	19	50720956	50720956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:50720956G>A	ENST00000596571.1	+	2	490	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	MYH14_ENST00000376970.2_Missense_Mutation_p.G164S|MYH14_ENST00000425460.1_Missense_Mutation_p.G164S|MYH14_ENST00000601313.1_Missense_Mutation_p.G164S|MYH14_ENST00000440075.2_Missense_Mutation_p.G164S|MYH14_ENST00000262269.8_Missense_Mutation_p.G164S|MYH14_ENST00000598205.1_Missense_Mutation_p.G164S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	164	Myosin motor.				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)			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)		GATGTACCGGGGCAAGAAGCG	0.607																																						ENST00000440075.2																			0				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						c.(490-492)Ggc>Agc		myosin, heavy chain 14, non-muscle							82.0	91.0	88.0					19																	50720956		2169	4273	6442	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50720956G>A	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.490G>A	19.37:g.50720956G>A	ENSP00000472819:p.Gly164Ser					MYH14_ENST00000425460.1_Missense_Mutation_p.G164S|MYH14_ENST00000601313.1_Missense_Mutation_p.G164S|MYH14_ENST00000596571.1_Missense_Mutation_p.G164S|MYH14_ENST00000376970.2_Missense_Mutation_p.G164S|MYH14_ENST00000598205.1_Missense_Mutation_p.G164S|MYH14_ENST00000262269.8_Missense_Mutation_p.G164S	p.G164S			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	3	537	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	164			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.490G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330040	0.95733	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	4.63	4.63	0.57726	Myosin head, motor domain (2);	.	.	.	.	D	0.96027	0.8706	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.96405	0.9300	9	0.87932	D	0	.	15.3635	0.74499	0.0:0.0:1.0:0.0	.	164;164;164	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	S	164	ENSP00000406273:G164S;ENSP00000366169:G164S;ENSP00000407879:G164S;ENSP00000262269:G164S	ENSP00000262269:G164S	G	+	1	0	MYH14	55412768	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.596000	0.98267	2.579000	0.87056	0.655000	0.94253	GGC		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		4	105	0	0	0	1	0	4	105				
SULT4A1	25830	broad.mit.edu	37	22	44258238	44258238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:44258238G>A	ENST00000330884.4	-	1	145	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	SULT4A1_ENST00000540422.1_Missense_Mutation_p.P9S|SULT4A1_ENST00000249130.5_Missense_Mutation_p.P9S	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	9					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.P9A(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GGGGTGCTGGGGGTCTCGGCC	0.761																																						ENST00000330884.4																			1	Substitution - Missense(1)	p.P9A(1)	ovary(1)	kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(25-27)Ccc>Tcc		sulfotransferase family 4A, member 1							32.0	39.0	37.0					22																	44258238		2202	4298	6500	SO:0001583	missense	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44258238G>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.25C>T	22.37:g.44258238G>A	ENSP00000332565:p.Pro9Ser					SULT4A1_ENST00000540422.1_Missense_Mutation_p.P9S|SULT4A1_ENST00000249130.5_Missense_Mutation_p.P9S	p.P9S	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	1	145	-		Ovarian(80;0.024)|all_neural(38;0.0416)	9					B2R7N3|O43728	Missense_Mutation	SNP	ENST00000330884.4	37	c.25C>T	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278253	0.59758	.	.	ENSG00000130540	ENST00000330884;ENST00000540422;ENST00000249130	T;T;T	0.10477	4.85;2.87;4.38	3.98	3.98	0.46160	.	0.206715	0.42172	U	0.000749	T	0.15478	0.0373	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.31475	-0.9942	10	0.62326	D	0.03	.	14.6858	0.69049	0.0:0.0:1.0:0.0	.	9;9	B7Z2E1;Q9BR01	.;ST4A1_HUMAN	S	9	ENSP00000332565:P9S;ENSP00000439141:P9S;ENSP00000249130:P9S	ENSP00000249130:P9S	P	-	1	0	SULT4A1	42589571	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	8.502000	0.90505	1.741000	0.51731	0.281000	0.19383	CCC		0.761	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		6	41	0	0	0	1	0	6	41				
EEF2K	29904	broad.mit.edu	37	16	22291526	22291526	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:22291526G>A	ENST00000263026.5	+	17	2371	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	633					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AAGGTGCCAAGACTGGCTAGA	0.602																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(1897-1899)Gac>Aac		eukaryotic elongation factor-2 kinase							68.0	60.0	63.0					16																	22291526		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22291526G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1897G>A	16.37:g.22291526G>A	ENSP00000263026:p.Asp633Asn						p.D633N	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	17	2371	+			633					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1897G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663000	0.29515	.	.	ENSG00000103319	ENST00000263026	T	0.58797	0.31	5.19	1.57	0.23409	Tetratricopeptide-like helical (1);	0.268288	0.46758	N	0.000277	T	0.31358	0.0794	N	0.08118	0	0.48632	D	0.999685	B	0.09022	0.002	B	0.08055	0.003	T	0.05321	-1.0892	10	0.17832	T	0.49	-2.0363	9.8888	0.41276	0.2874:0.0:0.7126:0.0	.	633	O00418	EF2K_HUMAN	N	633	ENSP00000263026:D633N	ENSP00000263026:D633N	D	+	1	0	EEF2K	22199027	0.998000	0.40836	0.626000	0.29213	0.835000	0.47333	2.574000	0.46016	0.657000	0.30906	0.561000	0.74099	GAC		0.602	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		14	27	0	0	0	1	0	14	27				
ECE2	9718	broad.mit.edu	37	3	184001722	184001722	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:184001722G>A	ENST00000402825.3	+	8	1320	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	ECE2_ENST00000404464.3_Silent_p.E322E|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.E293E|ECE2_ENST00000357474.5_Silent_p.E368E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	440	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCGCGACGAGGAGAAGATCT	0.637																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(1318-1320)gaG>gaA		endothelin converting enzyme 2							77.0	65.0	69.0					3																	184001722		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184001722G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1320G>A	3.37:g.184001722G>A						ECE2_ENST00000357474.5_Silent_p.E368E|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.E293E|ECE2_ENST00000404464.3_Silent_p.E322E	p.E440E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1320	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		440			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.1320G>A	CCDS3256.2																																																																																				0.637	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		3	45	0	0	0	1	0	3	45				
NRG1	3084	broad.mit.edu	37	8	32585509	32585509	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:32585509G>A	ENST00000405005.3	+	6	545	c.545G>A	c.(544-546)tGt>tAt	p.C182Y	NRG1_ENST00000356819.4_Missense_Mutation_p.C182Y|NRG1_ENST00000519301.1_Missense_Mutation_p.C127Y|NRG1_ENST00000341377.5_Missense_Mutation_p.C182Y|NRG1_ENST00000520407.1_Missense_Mutation_p.C363Y|NRG1_ENST00000287842.3_Missense_Mutation_p.C182Y|NRG1_ENST00000523079.1_Missense_Mutation_p.C182Y|NRG1_ENST00000287845.5_Missense_Mutation_p.C148Y|NRG1_ENST00000539990.1_Missense_Mutation_p.C28Y|NRG1_ENST00000521670.1_Missense_Mutation_p.C182Y|NRG1_ENST00000338921.4_Missense_Mutation_p.C182Y|NRG1_ENST00000520502.2_Missense_Mutation_p.C237Y			Q02297	NRG1_HUMAN	neuregulin 1	182	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTGTAAAATGTGCGGAGAAG	0.438																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(544-546)tGt>tAt		neuregulin 1							163.0	150.0	154.0					8																	32585509		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32585509G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.545G>A	8.37:g.32585509G>A	ENSP00000384620:p.Cys182Tyr					NRG1_ENST00000539990.1_Missense_Mutation_p.C28Y|NRG1_ENST00000520407.1_Missense_Mutation_p.C363Y|NRG1_ENST00000523079.1_Missense_Mutation_p.C182Y|NRG1_ENST00000338921.4_Missense_Mutation_p.C182Y|NRG1_ENST00000520502.2_Missense_Mutation_p.C237Y|NRG1_ENST00000287840.5_Missense_Mutation_p.C182Y|NRG1_ENST00000356819.4_Missense_Mutation_p.C182Y|NRG1_ENST00000405005.2_Missense_Mutation_p.C182Y|NRG1_ENST00000287842.3_Missense_Mutation_p.C182Y|NRG1_ENST00000521670.1_Missense_Mutation_p.C182Y|NRG1_ENST00000519301.1_Missense_Mutation_p.C127Y|NRG1_ENST00000287845.5_Missense_Mutation_p.C148Y	p.C182Y			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	6	1062	+		Breast(100;0.203)	182			EGF-like.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.545G>A	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.89|16.89	3.248530|3.248530	0.59103|0.59103	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000520502;ENST00000518084;ENST00000522402;ENST00000519240;ENST00000539990|ENST00000518206	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.99992|.	-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-12.4;-6.65;-6.65|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77705|0.77705	0.4170|0.4170	M|M	0.79258|0.79258	2.445|2.445	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.76494|.	0.991;0.999;0.998;0.999;0.997;0.999;0.997;0.998;0.999;0.972;0.999;0.995;0.999;0.998;0.998;0.998|.	D;D;D;D;D;D;P;D;D;P;D;P;D;D;D;D|.	0.85130|.	0.992;0.997;0.969;0.974;0.943;0.969;0.876;0.961;0.996;0.498;0.974;0.862;0.974;0.983;0.958;0.968|.	T|T	0.77587|0.77587	-0.2532|-0.2532	10|5	0.87932|.	D|.	0|.	0.002|0.002	17.9135|17.9135	0.88942|0.88942	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	28;28;182;148;182;181;147;182;237;182;182;182;182;182;182;363|.	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;B7Z4Z3;Q02297-10;Q02297-4;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8;Q02297-9|.	.;.;.;.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.;.;.|.	Y|M	144;127;363;250;182;182;182;182;148;182;182;182;182;237;28;28;28;28|61	ENSP00000430053:C144Y;ENSP00000429582:C127Y;ENSP00000434640:C363Y;ENSP00000429067:C250Y;ENSP00000430120:C182Y;ENSP00000343395:C182Y;ENSP00000349275:C182Y;ENSP00000287840:C182Y;ENSP00000287845:C148Y;ENSP00000340497:C182Y;ENSP00000287842:C182Y;ENSP00000384620:C182Y;ENSP00000428828:C182Y;ENSP00000433289:C237Y;ENSP00000428546:C28Y;ENSP00000430862:C28Y;ENSP00000428411:C28Y;ENSP00000439276:C28Y|.	ENSP00000287840:C182Y|.	C|V	+|+	2|1	0|0	NRG1|NRG1	32705051|32705051	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.247000|0.247000	0.25773|0.25773	6.030000|6.030000	0.70903|0.70903	2.665000|2.665000	0.90641|0.90641	0.585000|0.585000	0.79938|0.79938	TGT|GTG		0.438	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			7	105	0	0	0	1	0	7	105				
FRMD4A	55691	broad.mit.edu	37	10	13696439	13696439	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:13696439G>A	ENST00000357447.2	-	23	3395	c.3027C>T	c.(3025-3027)caC>caT	p.H1009H	FRMD4A_ENST00000358621.4_Silent_p.H994H|FRMD4A_ENST00000378503.1_Silent_p.H1009H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1009					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTAGGATGTGGTGGGGGCTGC	0.527																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(3025-3027)caC>caT		FERM domain containing 4A							80.0	77.0	78.0					10																	13696439		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13696439G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3027C>T	10.37:g.13696439G>A						FRMD4A_ENST00000378503.1_Silent_p.H1009H|FRMD4A_ENST00000358621.4_Silent_p.H994H	p.H1009H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			23	3395	-			1009					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.3027C>T	CCDS7101.1																																																																																				0.527	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		10	69	0	0	0	1	0	10	69				
PRSS58	136541	broad.mit.edu	37	7	141952304	141952304	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:141952304C>T	ENST00000552471.1	-	4	883	c.564G>A	c.(562-564)agG>agA	p.R188R	PRSS58_ENST00000547058.2_Silent_p.R188R			Q8IYP2	PRS58_HUMAN	protease, serine, 58	188	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TGCAGGGCTGCCTCCTTCCTG	0.408																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(562-564)agG>agA		protease, serine, 58							162.0	149.0	153.0					7																	141952304		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952304C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.564G>A	7.37:g.141952304C>T						PRSS58_ENST00000547058.2_Silent_p.R188R	p.R188R			Q8IYP2	PRS58_HUMAN			4	883	-			188			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.564G>A	CCDS5871.1																																																																																				0.408	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		16	147	0	0	0	1	0	16	147				
USP34	9736	broad.mit.edu	37	2	61505556	61505556	+	Missense_Mutation	SNP	G	G	A	rs557246855		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:61505556G>A	ENST00000398571.2	-	40	5355	c.5279C>T	c.(5278-5280)gCc>gTc	p.A1760V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1760					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTTGCCAAGGCATCTAAGTC	0.269													G|||	1	0.000199681	0.0	0.0	5008	,	,		3254	0.0		0.0	False		,,,				2504	0.001					ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(5278-5280)gCc>gTc		ubiquitin specific peptidase 34							61.0	50.0	54.0					2																	61505556		1795	4071	5866	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61505556G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5279C>T	2.37:g.61505556G>A	ENSP00000381577:p.Ala1760Val						p.A1760V	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		40	5355	-			1760					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.5279C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689447	0.68271	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.03982	3.86;3.74	5.22	5.22	0.72569	.	0.115682	0.64402	D	0.000019	T	0.05135	0.0137	L	0.29908	0.895	0.49798	D	0.999822	B	0.26935	0.164	B	0.21360	0.034	T	0.48625	-0.9019	10	0.29301	T	0.29	.	16.9682	0.86291	0.0:0.0:1.0:0.0	.	1760	Q70CQ2	UBP34_HUMAN	V	1608;1608;1760;38	ENSP00000381577:A1760V;ENSP00000410559:A38V	ENSP00000263989:A1608V	A	-	2	0	USP34	61359060	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.110000	0.77069	2.440000	0.82611	0.467000	0.42956	GCC		0.269	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			18	29	0	0	0	1	0	18	29				
VPS37B	79720	broad.mit.edu	37	12	123355445	123355445	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123355445G>A	ENST00000267202.2	-	2	656	c.275C>T	c.(274-276)aCc>aTc	p.T92I		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	92	Interaction with IST1.|VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		ACCTAATTTGGTCTTCTTTAT	0.418																																						ENST00000267202.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(274-276)aCc>aTc		vacuolar protein sorting 37 homolog B (S. cerevisiae)							114.0	112.0	113.0					12																	123355445		2203	4300	6503	SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123355445G>A	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.275C>T	12.37:g.123355445G>A	ENSP00000267202:p.Thr92Ile						p.T92I	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	2	656	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		92			Interaction with IST1.|VPS37 C-terminal.			Missense_Mutation	SNP	ENST00000267202.2	37	c.275C>T	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742570	0.89573	.	.	ENSG00000139722	ENST00000267202;ENST00000535765;ENST00000371248	T;T;T	0.77358	-1.09;-1.09;-1.09	5.39	5.39	0.77823	Modifier of rudimentary, Modr (2);	0.052427	0.85682	D	0.000000	D	0.86543	0.5958	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	D	0.86332	0.1699	10	0.49607	T	0.09	-39.2653	19.1699	0.93574	0.0:0.0:1.0:0.0	.	92	Q9H9H4	VP37B_HUMAN	I	92;90;90	ENSP00000267202:T92I;ENSP00000446075:T90I;ENSP00000360294:T90I	ENSP00000267202:T92I	T	-	2	0	VPS37B	121921398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.547000	0.98100	2.513000	0.84729	0.585000	0.79938	ACC		0.418	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		32	58	0	0	0	1	0	32	58				
ACAN	176	broad.mit.edu	37	15	89382154	89382154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:89382154G>A	ENST00000561243.1	+	2	331	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	ACAN_ENST00000559004.1_Missense_Mutation_p.A111T|ACAN_ENST00000439576.2_Missense_Mutation_p.A111T|ACAN_ENST00000352105.7_Missense_Mutation_p.A111T|ACAN_ENST00000558207.1_Missense_Mutation_p.A111T			P16112	PGCA_HUMAN	aggrecan	111	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.A111S(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAACTACCCGGCCATCCCCAG	0.617																																						ENST00000439576.2																			1	Substitution - Missense(1)	p.A111S(1)	large_intestine(1)	NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(331-333)Gcc>Acc		aggrecan							139.0	159.0	153.0					15																	89382154		2143	4261	6404	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382154G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.331G>A	15.37:g.89382154G>A	ENSP00000453342:p.Ala111Thr					ACAN_ENST00000559004.1_Missense_Mutation_p.A111T|ACAN_ENST00000558207.1_Missense_Mutation_p.A111T|ACAN_ENST00000352105.7_Missense_Mutation_p.A111T|ACAN_ENST00000561243.1_Missense_Mutation_p.A111T	p.A111T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	705	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		111					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.331G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111591	0.56398	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.63580	-0.05;-0.05	5.36	5.36	0.76844	.	.	.	.	.	T	0.72503	0.3468	L	0.56280	1.765	0.33987	D	0.648662	D;D;B	0.89917	1.0;1.0;0.42	D;D;B	0.75484	0.986;0.986;0.229	T	0.72950	-0.4136	9	0.19147	T	0.46	-28.4187	14.1023	0.65065	0.0:0.1504:0.8496:0.0	.	111;111;111	E7ENV9;E7EX88;Q6PID9	.;.;.	T	111	ENSP00000387356:A111T;ENSP00000341615:A111T	ENSP00000268134:A111T	A	+	1	0	ACAN	87183158	0.998000	0.40836	0.977000	0.42913	0.752000	0.42762	2.670000	0.46833	2.689000	0.91719	0.591000	0.81541	GCC		0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		52	108	0	0	0	1	0	52	108				
UBR4	23352	broad.mit.edu	37	1	19453118	19453118	+	Missense_Mutation	SNP	G	G	A	rs553650923		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19453118G>A	ENST00000375254.3	-	64	9287	c.9260C>T	c.(9259-9261)gCa>gTa	p.A3087V	UBR4_ENST00000375217.2_Missense_Mutation_p.A3080V|UBR4_ENST00000375267.2_Missense_Mutation_p.A3087V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3063V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3087					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)			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)		CAGTAGAGCTGCTGCTGTGGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		20756	0.0		0.0	False		,,,				2504	0.001					ENST00000375267.2																			0				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						c.(9259-9261)gCa>gTa		ubiquitin protein ligase E3 component n-recognin 4							78.0	79.0	79.0					1																	19453118		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19453118G>A	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.9260C>T	1.37:g.19453118G>A	ENSP00000364403:p.Ala3087Val					UBR4_ENST00000375254.3_Missense_Mutation_p.A3087V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3063V|UBR4_ENST00000375217.2_Missense_Mutation_p.A3080V	p.A3087V			Q5T4S7	UBR4_HUMAN		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)	64	9263	-		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)	3087					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.9260C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234470	0.58886	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.24723	1.84;1.84;1.86;1.86	5.75	5.75	0.90469	.	0.057051	0.64402	D	0.000001	T	0.24586	0.0596	L	0.33485	1.01	0.80722	D	1	B	0.23591	0.088	B	0.24701	0.055	T	0.02498	-1.1150	10	0.30078	T	0.28	.	19.5224	0.95190	0.0:0.0:1.0:0.0	.	3087	Q5T4S7	UBR4_HUMAN	V	3087;3087;3080;3063;695;1773	ENSP00000364403:A3087V;ENSP00000364416:A3087V;ENSP00000364365:A3080V;ENSP00000364374:A3063V	ENSP00000364365:A3080V	A	-	2	0	UBR4	19325705	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.209000	0.95087	2.718000	0.92993	0.591000	0.81541	GCA		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		19	40	0	0	0	1	0	19	40				
LUZP1	7798	broad.mit.edu	37	1	23420592	23420592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:23420592C>T	ENST00000302291.4	-	4	964	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	LUZP1_ENST00000418342.1_Missense_Mutation_p.E55K|LUZP1_ENST00000374623.3_Missense_Mutation_p.E55K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E55K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	55					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGCTACCTTCTGCCTGAATC	0.517																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(163-165)Gaa>Aaa		leucine zipper protein 1							134.0	136.0	136.0					1																	23420592		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23420592C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.163G>A	1.37:g.23420592C>T	ENSP00000303758:p.Glu55Lys					LUZP1_ENST00000314174.5_Missense_Mutation_p.E55K|LUZP1_ENST00000418342.1_Missense_Mutation_p.E55K|LUZP1_ENST00000374623.3_Missense_Mutation_p.E55K	p.E55K			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	964	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	55					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.163G>A	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984625	0.93044	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	T;T;T;T;T	0.61980	1.74;1.74;1.74;1.52;0.06	6.16	6.16	0.99307	.	0.000000	0.49305	D	0.000152	T	0.81758	0.4890	M	0.80183	2.485	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82287	-0.0532	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	55;55	Q86V48-2;Q86V48	.;LUZP1_HUMAN	K	55	ENSP00000393460:E55K;ENSP00000363752:E55K;ENSP00000303758:E55K;ENSP00000313705:E55K;ENSP00000428061:E55K	ENSP00000303758:E55K	E	-	1	0	LUZP1	23293179	1.000000	0.71417	0.962000	0.40283	0.953000	0.61014	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAA		0.517	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		6	117	0	0	0	1	0	6	117				
TRIM33	51592	broad.mit.edu	37	1	114948173	114948173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114948173C>T	ENST00000358465.2	-	15	2710	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	TRIM33_ENST00000450349.2_Missense_Mutation_p.G508E|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.G876E	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	876					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGCCATCTCCTCCAATCCT	0.473			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2626-2628)gGa>gAa		tripartite motif containing 33							247.0	215.0	226.0					1																	114948173		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114948173C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2627G>A	1.37:g.114948173C>T	ENSP00000351250:p.Gly876Glu					TRIM33_ENST00000369543.2_Missense_Mutation_p.G876E|TRIM33_ENST00000450349.2_Missense_Mutation_p.G508E|TRIM33_ENST00000476908.1_5'UTR	p.G876E	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		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)	15	2710	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	876					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.2627G>A	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.195214|4.195214	0.78902|0.78902	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|D;D;D	.|0.83837	.|-1.77;-1.77;-1.77	5.29|5.29	4.36|4.36	0.52297|0.52297	.|Zinc finger, FYVE/PHD-type (1);	.|0.386253	.|0.30859	.|N	.|0.008728	T|T	0.81645|0.81645	0.4866|0.4866	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;B;B	.|0.89917	.|1.0;0.983;1.0;0.0;0.0	.|D;P;D;B;B	.|0.87578	.|0.983;0.815;0.998;0.001;0.001	T|T	0.81163|0.81163	-0.1058|-0.1058	5|10	.|0.38643	.|T	.|0.18	-13.438|-13.438	14.821|14.821	0.70074|0.70074	0.0:0.9269:0.0:0.0731|0.0:0.9269:0.0:0.0731	.|.	.|508;508;71;876;876	.|E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.|.;.;.;.;TRI33_HUMAN	K|E	637|876;876;508	.|ENSP00000351250:G876E;ENSP00000358556:G876E;ENSP00000412077:G508E	.|ENSP00000351250:G876E	E|G	-|-	1|2	0|0	TRIM33|TRIM33	114749696|114749696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	1.219000|1.219000	0.32479|0.32479	2.636000|2.636000	0.89361|0.89361	0.491000|0.491000	0.48974|0.48974	GAG|GGA		0.473	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		65	100	0	0	0	1	0	65	100				
CDC42EP2	10435	broad.mit.edu	37	11	65088577	65088577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65088577G>A	ENST00000544348.1	+	2	814	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.V70M|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.V70M			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	70					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						GGGGACCATGGTGGAGGGGCC	0.642																																						ENST00000544348.1																			0				lung(1)	1						c.(208-210)Gtg>Atg		CDC42 effector protein (Rho GTPase binding) 2							76.0	74.0	74.0					11																	65088577		2201	4297	6498	SO:0001583	missense	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088577G>A	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.208G>A	11.37:g.65088577G>A	ENSP00000442534:p.Val70Met					CDC42EP2_ENST00000533419.1_Missense_Mutation_p.V70M|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.V70M	p.V70M			O14613	BORG1_HUMAN			2	814	+			70					B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	37	c.208G>A	CCDS8099.1	.	.	.	.	.	.	.	.	.	.	G	4.296	0.054088	0.08291	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	D;D;D	0.86097	-2.07;-2.07;-2.07	4.88	1.91	0.25777	PAK-box/P21-Rho-binding (1);	1.532440	0.03983	N	0.293563	T	0.81211	0.4775	L	0.43923	1.385	0.09310	N	1	B	0.28850	0.225	B	0.33392	0.163	T	0.64896	-0.6299	10	0.45353	T	0.12	-22.7339	4.9765	0.14144	0.1864:0.3372:0.4763:0.0	.	70	O14613	BORG1_HUMAN	M	70	ENSP00000279249:V70M;ENSP00000431660:V70M;ENSP00000442534:V70M	ENSP00000279249:V70M	V	+	1	0	CDC42EP2	64845153	0.017000	0.18338	0.000000	0.03702	0.046000	0.14306	0.713000	0.25794	0.237000	0.21200	0.591000	0.81541	GTG		0.642	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		27	38	0	0	0	1	0	27	38				
ING1	3621	broad.mit.edu	37	13	111371910	111371910	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:111371910G>A	ENST00000375774.3	+	2	1362	c.900G>A	c.(898-900)gaG>gaA	p.E300E	ING1_ENST00000375775.3_Silent_p.E88E|ING1_ENST00000338450.7_Silent_p.E113E|ING1_ENST00000333219.7_Silent_p.E157E	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	300					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAACAACGAGAACCGTGAGA	0.652																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(898-900)gaG>gaA		inhibitor of growth family, member 1							46.0	38.0	41.0					13																	111371910		2199	4299	6498	SO:0001819	synonymous_variant	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111371910G>A		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.900G>A	13.37:g.111371910G>A						ING1_ENST00000333219.7_Silent_p.E157E|ING1_ENST00000375775.3_Silent_p.E88E|ING1_ENST00000338450.7_Silent_p.E113E	p.E300E	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1362	+	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)		300					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	c.900G>A	CCDS9517.1																																																																																				0.652	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		6	11	0	0	0	1	0	6	11				
FAM168B	130074	broad.mit.edu	37	2	131812881	131812881	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:131812881C>T	ENST00000409185.1	-	5	546	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	FAM168B_ENST00000389915.3_Missense_Mutation_p.G147S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	147						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						GCCACCATGCCCATGGTGACC	0.627																																						ENST00000409185.1																			0				endometrium(3)|lung(2)	5						c.(439-441)Ggc>Agc		family with sequence similarity 168, member B							94.0	104.0	101.0					2																	131812881		2079	4195	6274	SO:0001583	missense	130074							g.chr2:131812881C>T		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.439G>A	2.37:g.131812881C>T	ENSP00000387051:p.Gly147Ser					FAM168B_ENST00000389915.3_Missense_Mutation_p.G147S	p.G147S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN			5	546	-			147					Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	ENST00000409185.1	37	c.439G>A	CCDS42755.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491910	0.96339	.	.	ENSG00000152102	ENST00000409185;ENST00000389915	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.58629	-0.7603	9	0.21540	T	0.41	-6.1684	17.3458	0.87309	0.0:1.0:0.0:0.0	.	147	A1KXE4	F168B_HUMAN	S	147	.	ENSP00000374565:G147S	G	-	1	0	FAM168B	131529351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.314000	0.78988	2.758000	0.94735	0.655000	0.94253	GGC		0.627	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		8	88	0	0	0	1	0	8	88				
HERC1	8925	broad.mit.edu	37	15	63984661	63984661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:63984661G>A	ENST00000443617.2	-	31	5866	c.5779C>T	c.(5779-5781)Cca>Tca	p.P1927S	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1927					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTCCACTTTGGGGAAGCCATT	0.373																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(5779-5781)Cca>Tca		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							94.0	89.0	90.0					15																	63984661		1833	4089	5922	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63984661G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5779C>T	15.37:g.63984661G>A	ENSP00000390158:p.Pro1927Ser					RP11-317G6.1_ENST00000559303.2_RNA	p.P1927S	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			31	5866	-			1927					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.5779C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905237	0.92035	.	.	ENSG00000103657	ENST00000443617	T	0.62364	0.03	5.64	5.64	0.86602	.	0.000000	0.85682	U	0.000000	T	0.69762	0.3147	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70436	-0.4872	10	0.45353	T	0.12	.	19.6995	0.96047	0.0:0.0:1.0:0.0	.	1927	Q15751	HERC1_HUMAN	S	1927	ENSP00000390158:P1927S	ENSP00000390158:P1927S	P	-	1	0	HERC1	61771714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.305000	0.96197	2.652000	0.90054	0.650000	0.86243	CCA		0.373	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		6	57	0	0	0	1	0	6	57				
ZNF93	81931	broad.mit.edu	37	19	20044994	20044994	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:20044994T>C	ENST00000343769.5	+	4	1258	c.1230T>C	c.(1228-1230)tcT>tcC	p.S410S	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	410					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)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGTACTCCTCTACCCTTAGTT	0.418																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1228-1230)tcT>tcC		zinc finger protein 93							59.0	60.0	60.0					19																	20044994		2203	4300	6503	SO:0001819	synonymous_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044994T>C	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1230T>C	19.37:g.20044994T>C						AC007204.2_ENST00000592245.1_lincRNA	p.S410S	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1258	+			410					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	ENST00000343769.5	37	c.1230T>C	CCDS32973.1																																																																																				0.418	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		5	90	0	0	0	1	0	5	90				
TSHB	7252	broad.mit.edu	37	1	115576121	115576121	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:115576121C>T	ENST00000369517.1	+	1	138	c.138C>T	c.(136-138)atC>atT	p.I46I	TSHB_ENST00000256592.1_Silent_p.I46I			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	46				I -> M (in Ref. 5; AAB30828). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACACCACCATCTGTGCTGGAT	0.398																																						ENST00000256592.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(136-138)atC>atT		thyroid stimulating hormone, beta							230.0	200.0	210.0					1																	115576121		2203	4300	6503	SO:0001819	synonymous_variant	7252				anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	g.chr1:115576121C>T	BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"""Endogenous ligands"""	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.138C>T	1.37:g.115576121C>T						TSHB_ENST00000369517.1_Silent_p.I46I	p.I46I	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	2	206	+	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	46	I -> M (in Ref. 5; AAB30828).				B1AKP0|Q16163	Silent	SNP	ENST00000369517.1	37	c.138C>T	CCDS880.1																																																																																				0.398	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032833.2	NM_000549		5	104	0	0	0	1	0	5	104				
VNN3	55350	broad.mit.edu	37	6	133045993	133045993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:133045993C>T	ENST00000207771.3	-	6	1024	c.952G>A	c.(952-954)Gtt>Att	p.V318I	VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000417437.2_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	319	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGCCAGTCAACAGCTGCAGGG	0.493																																						ENST00000207771.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(952-954)Gtt>Att		vanin 3							157.0	146.0	149.0					6																	133045993		876	1991	2867	SO:0001583	missense	55350							g.chr6:133045993C>T	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.952G>A	6.37:g.133045993C>T	ENSP00000440594:p.Val318Ile					VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000423615.2_3'UTR	p.V318I						OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	6	1024	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	ENST00000207771.3	37	c.952G>A		.	.	.	.	.	.	.	.	.	.	C	16.54	3.150935	0.57151	.	.	ENSG00000093134	ENST00000207771	D	0.88431	-2.38	5.52	5.52	0.82312	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.218004	0.31636	N	0.007305	T	0.72203	0.3431	.	.	.	0.27255	N	0.958798	B	0.12630	0.006	B	0.13407	0.009	T	0.57418	-0.7815	9	0.24483	T	0.36	-25.9157	14.6656	0.68904	0.0:0.7351:0.2649:0.0	.	319	Q9NY84	VNN3_HUMAN	I	318	ENSP00000440594:V318I	ENSP00000440594:V318I	V	-	1	0	VNN3	133087686	0.000000	0.05858	0.094000	0.20943	0.488000	0.33401	-0.211000	0.09332	2.751000	0.94390	0.650000	0.86243	GTT		0.493	VNN3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028290		22	44	0	0	0	1	0	22	44				
ZNF592	9640	broad.mit.edu	37	15	85326447	85326447	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85326447C>T	ENST00000560079.2	+	4	829	c.541C>T	c.(541-543)Cca>Tca	p.P181S	ZNF592_ENST00000299927.3_Missense_Mutation_p.P181S	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	181					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTGGGAGGCCCAGTCCTGGA	0.522																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(541-543)Cca>Tca		zinc finger protein 592							89.0	103.0	98.0					15																	85326447		2203	4298	6501	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326447C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.541C>T	15.37:g.85326447C>T	ENSP00000452877:p.Pro181Ser					ZNF592_ENST00000560079.2_Missense_Mutation_p.P181S	p.P181S			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	563	+			181					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.541C>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.655319	0.00779	.	.	ENSG00000166716	ENST00000299927	T	0.00587	6.38	5.95	1.44	0.22558	.	0.482216	0.25047	N	0.033544	T	0.00271	0.0008	N	0.08118	0	0.19945	N	0.999944	B	0.13594	0.008	B	0.10450	0.005	T	0.46830	-0.9163	10	0.05620	T	0.96	-10.9963	0.7968	0.01067	0.1797:0.3958:0.1744:0.25	.	181	Q92610	ZN592_HUMAN	S	181	ENSP00000299927:P181S	ENSP00000299927:P181S	P	+	1	0	ZNF592	83127451	0.989000	0.36119	1.000000	0.80357	0.698000	0.40448	1.377000	0.34317	0.813000	0.34350	0.655000	0.94253	CCA		0.522	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		10	178	0	0	0	1	0	10	178				
TBC1D20	128637	broad.mit.edu	37	20	419841	419841	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:419841C>T	ENST00000354200.4	-	7	1014	c.867G>A	c.(865-867)gaG>gaA	p.E289E	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	289					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TGATCAGTGTCTCATAGGGCA	0.562																																						ENST00000354200.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(865-867)gaG>gaA		TBC1 domain family, member 20							123.0	103.0	110.0					20																	419841		2203	4300	6503	SO:0001819	synonymous_variant	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:419841C>T	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.867G>A	20.37:g.419841C>T						TBC1D20_ENST00000461188.1_5'UTR	p.E289E	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN			7	1014	-		all_epithelial(17;0.228)|Breast(17;0.231)	289					A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Silent	SNP	ENST00000354200.4	37	c.867G>A	CCDS13002.1																																																																																				0.562	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		7	27	0	0	0	1	0	7	27				
AP3B1	8546	broad.mit.edu	37	5	77523275	77523275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:77523275G>A	ENST00000255194.6	-	5	632	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	AP3B1_ENST00000519295.1_Missense_Mutation_p.L104F	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	153					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTAATAGCAAGCATCATGATA	0.368									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(457-459)Ctt>Ttt		adaptor-related protein complex 3, beta 1 subunit							136.0	126.0	130.0					5																	77523275		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77523275G>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.457C>T	5.37:g.77523275G>A	ENSP00000255194:p.Leu153Phe					AP3B1_ENST00000519295.1_Missense_Mutation_p.L104F	p.L153F	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	5	632	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	153					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.457C>T	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963238	0.92791	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	T;T	0.12879	2.64;2.64	5.07	5.07	0.68467	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.60505	-0.7250	10	0.72032	D	0.01	-10.7569	18.8416	0.92186	0.0:0.0:1.0:0.0	.	153	O00203	AP3B1_HUMAN	F	153;104;153	ENSP00000255194:L153F;ENSP00000430597:L104F	ENSP00000255194:L153F	L	-	1	0	AP3B1	77559031	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.813000	0.99286	2.505000	0.84491	0.655000	0.94253	CTT		0.368	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			7	61	0	0	0	1	0	7	61				
KRT6B	3854	broad.mit.edu	37	12	52843276	52843276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:52843276C>T	ENST00000252252.3	-	5	1101	c.1054G>A	c.(1054-1056)Gct>Act	p.A352T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	352	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAGGACTCAGCCTCAGCCCTG	0.562																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(1054-1056)Gct>Act		keratin 6B							219.0	194.0	203.0					12																	52843276		2203	4300	6503	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843276C>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1054G>A	12.37:g.52843276C>T	ENSP00000252252:p.Ala352Thr						p.A352T	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	1101	-			352			Coil 2.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.1054G>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195785	0.78902	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.80033	-1.33	3.05	3.05	0.35203	Filament (1);	0.000000	0.64402	D	0.000014	D	0.89375	0.6697	M	0.83483	2.645	0.53688	D	0.999979	D	0.76494	0.999	D	0.75020	0.985	D	0.91487	0.5209	10	0.72032	D	0.01	.	15.3938	0.74774	0.0:1.0:0.0:0.0	.	352	P04259	K2C6B_HUMAN	T	352;312	ENSP00000252252:A352T	ENSP00000252252:A352T	A	-	1	0	KRT6B	51129543	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	5.680000	0.68168	2.042000	0.60477	0.298000	0.19748	GCT		0.562	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		59	124	0	0	0	1	0	59	124				
POLR3H	171568	broad.mit.edu	37	22	41928718	41928718	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:41928718G>A	ENST00000355209.4	-	3	583	c.240C>T	c.(238-240)ttC>ttT	p.F80F	POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000407461.1_Silent_p.F80F|POLR3H_ENST00000337566.5_Intron|POLR3H_ENST00000396504.2_Silent_p.F80F	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	80					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|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 initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TCTCATCTAGGAATGGATGAA	0.547											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355209.4																			0				breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						c.(238-240)ttC>ttT		polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)							138.0	120.0	126.0					22																	41928718		2203	4300	6503	SO:0001819	synonymous_variant	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41928718G>A	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.240C>T	22.37:g.41928718G>A			OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	POLR3H_ENST00000396504.2_Silent_p.F80F|POLR3H_ENST00000337566.5_Intron|POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000407461.1_Silent_p.F80F	p.F80F	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN			3	583	-			80					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Silent	SNP	ENST00000355209.4	37	c.240C>T	CCDS14018.1																																																																																				0.547	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		28	64	0	0	0	1	0	28	64				
GPRIN2	9721	broad.mit.edu	37	10	47000000	47000000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:47000000G>A	ENST00000374317.1	+	3	1393	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	GPRIN2_ENST00000374314.4_Missense_Mutation_p.E374K	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	374										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAGCCTGGAGGAGGTGCCGTC	0.662																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1120-1122)Gag>Aag		G protein regulated inducer of neurite outgrowth 2							151.0	132.0	139.0					10																	47000000		2203	4300	6503	SO:0001583	missense	9721							g.chr10:47000000G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1120G>A	10.37:g.47000000G>A	ENSP00000363436:p.Glu374Lys					GPRIN2_ENST00000374317.1_Missense_Mutation_p.E374K	p.E374K			O60269	GRIN2_HUMAN			1	2075	+			374					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.1120G>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451394	0.26074	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.20738	2.05;2.05	4.65	3.73	0.42828	.	0.171225	0.27927	N	0.017287	T	0.19644	0.0472	L	0.54323	1.7	0.24090	N	0.995912	P	0.40180	0.705	B	0.40864	0.342	T	0.08638	-1.0712	9	0.21540	T	0.41	-14.0615	.	.	.	.	374	O60269	GRIN2_HUMAN	K	374	ENSP00000363436:E374K;ENSP00000363433:E374K	ENSP00000363433:E374K	E	+	1	0	GPRIN2	46420006	0.997000	0.39634	0.539000	0.28077	0.065000	0.16274	2.450000	0.44943	1.065000	0.40693	0.313000	0.20887	GAG		0.662	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		21	71	0	0	0	1	0	21	71				
TJP2	9414	broad.mit.edu	37	9	71836166	71836166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:71836166G>A	ENST00000377245.4	+	5	914	c.706G>A	c.(706-708)Gac>Aac	p.D236N	TJP2_ENST00000348208.4_Missense_Mutation_p.D236N|TJP2_ENST00000265384.7_Missense_Mutation_p.D236N|TJP2_ENST00000535702.1_Missense_Mutation_p.D240N|TJP2_ENST00000453658.2_Missense_Mutation_p.D213N|TJP2_ENST00000539225.1_Missense_Mutation_p.D267N	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	236					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCGGGACCGGGACCGTGACCG	0.711																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(706-708)Gac>Aac		tight junction protein 2							15.0	20.0	18.0					9																	71836166		2188	4285	6473	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71836166G>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.706G>A	9.37:g.71836166G>A	ENSP00000366453:p.Asp236Asn					TJP2_ENST00000265384.7_Missense_Mutation_p.D236N|TJP2_ENST00000453658.2_Missense_Mutation_p.D213N|TJP2_ENST00000535702.1_Missense_Mutation_p.D240N|TJP2_ENST00000348208.4_Missense_Mutation_p.D236N|TJP2_ENST00000539225.1_Missense_Mutation_p.D267N	p.D236N	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			5	914	+			236					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.706G>A	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	1.676	-0.507839	0.04231	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	1.24	-1.23	0.09465	.	1.664350	0.03355	N	0.196695	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.21821	0.02;0.02;0.061;0.012;0.05	B;B;B;B;B	0.18871	0.023;0.023;0.005;0.01;0.014	T	0.06197	-1.0840	9	.	.	.	.	2.4047	0.04410	0.2661:0.3241:0.4099:0.0	.	267;240;236;236;236	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	N	213;236;236;236;240;267	ENSP00000392178:D213N;ENSP00000366453:D236N;ENSP00000345893:D236N;ENSP00000265384:D236N;ENSP00000442090:D240N;ENSP00000438262:D267N	.	D	+	1	0	TJP2	71025986	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.331000	0.19733	-0.407000	0.07576	-0.300000	0.09419	GAC		0.711	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		4	9	0	0	0	1	0	4	9				
DNM2	1785	broad.mit.edu	37	19	10886570	10886570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10886570G>A	ENST00000355667.6	+	4	657	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	DNM2_ENST00000389253.4_Missense_Mutation_p.V193I|DNM2_ENST00000314646.5_Missense_Mutation_p.V193I|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000585892.1_Missense_Mutation_p.V193I|DNM2_ENST00000408974.4_Missense_Mutation_p.V193I|DNM2_ENST00000359692.6_Missense_Mutation_p.V193I	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	193	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCCAAGGAAGTCGATCCCCA	0.607			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(577-579)Gtc>Atc		dynamin 2							51.0	48.0	49.0					19																	10886570		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10886570G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.577G>A	19.37:g.10886570G>A	ENSP00000347890:p.Val193Ile					DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000389253.4_Missense_Mutation_p.V193I|DNM2_ENST00000355667.6_Missense_Mutation_p.V193I|DNM2_ENST00000359692.6_Missense_Mutation_p.V193I|DNM2_ENST00000408974.4_Missense_Mutation_p.V193I|DNM2_ENST00000585892.1_Missense_Mutation_p.V193I	p.V193I			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		4	741	+			193					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.577G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443699	0.63067	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.22	5.22	0.72569	Dynamin, GTPase domain (2);	0.060083	0.64402	D	0.000003	D	0.96830	0.8965	M	0.78285	2.405	0.80722	D	1	P;P;D;P	0.64830	0.768;0.862;0.994;0.93	P;P;D;P	0.63192	0.647;0.566;0.912;0.713	D	0.97160	0.9837	10	0.62326	D	0.03	.	17.5409	0.87848	0.0:0.0:1.0:0.0	.	193;193;193;193	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	I	182;193;193;193;193;193	ENSP00000386192:V193I;ENSP00000347890:V193I;ENSP00000352721:V193I;ENSP00000373905:V193I;ENSP00000313164:V193I	ENSP00000313164:V193I	V	+	1	0	DNM2	10747570	1.000000	0.71417	0.963000	0.40424	0.034000	0.12701	9.869000	0.99810	2.447000	0.82792	0.561000	0.74099	GTC		0.607	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		6	37	0	0	0	1	0	6	37				
C17orf62	79415	broad.mit.edu	37	17	80402327	80402327	+	Missense_Mutation	SNP	G	G	A	rs150870793		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80402327G>A	ENST00000437807.2	-	7	756	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	C17orf62_ENST00000583617.1_Missense_Mutation_p.R147C|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147C|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147C|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147C|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147C|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133C|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147C|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147C|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23C|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133C	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	147						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCTTACCTGCGGTGGCCCATG	0.637																																						ENST00000437807.2																			0				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8						c.(439-441)Cgc>Tgc		chromosome 17 open reading frame 62		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	80.0	85.0		439,439,397,439,439,439,439	3.8	1.0	17	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	C17orf62	NM_001033046.3,NM_001100407.2,NM_001100408.2,NM_001193653.1,NM_001193654.1,NM_001193655.1,NM_001193657.1	180,180,180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	147/188,147/188,133/174,147/188,147/188,147/188,147/188	80402327	1,13005	2203	4300	6503	SO:0001583	missense	79415					integral to membrane	protein binding	g.chr17:80402327G>A	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.439C>T	17.37:g.80402327G>A	ENSP00000388909:p.Arg147Cys					C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147C|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147C|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147C|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147C|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147C|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23C|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147C|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147C|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133C|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133C	p.R147C	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		7	756	-	Breast(20;0.00106)|all_neural(118;0.0804)		147					E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	37	c.439C>T	CCDS32776.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447998	0.63178	2.27E-4	0.0	ENSG00000178927	ENST00000536759;ENST00000437807;ENST00000306645;ENST00000434650	.	.	.	4.84	3.84	0.44239	.	.	.	.	.	T	0.69278	0.3093	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.933;0.998	T	0.70382	-0.4887	8	0.66056	D	0.02	.	11.1938	0.48700	0.0:0.0:0.5291:0.4709	.	133;147	E1B6X3;Q9BQA9	.;CQ062_HUMAN	C	4;147;147;133	.	ENSP00000307765:R147C	R	-	1	0	C17orf62	77995616	1.000000	0.71417	0.989000	0.46669	0.686000	0.39977	4.292000	0.59031	0.985000	0.38656	0.561000	0.74099	CGC		0.637	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		20	24	0	0	0	1	0	20	24				
OR5T2	219464	broad.mit.edu	37	11	55999740	55999740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:55999740C>T	ENST00000313264.4	-	1	997	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATGTCATGGTCCGAAGCATAG	0.403																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(922-924)Gac>Aac		olfactory receptor, family 5, subfamily T, member 2							194.0	171.0	179.0					11																	55999740		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999740C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.922G>A	11.37:g.55999740C>T	ENSP00000323688:p.Asp308Asn						p.D308N	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	997	-	Esophageal squamous(21;0.00448)		308					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.922G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	7.250	0.603046	0.13939	.	.	ENSG00000181718	ENST00000313264	T	0.00145	8.67	5.07	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.606264	0.13452	U	0.386858	T	0.00109	0.0003	N	0.21097	0.63	0.09310	N	1	B	0.11235	0.004	B	0.17979	0.02	T	0.31166	-0.9953	10	0.54805	T	0.06	.	5.1349	0.14930	0.1661:0.6608:0.0:0.173	.	308	Q8NGG2	OR5T2_HUMAN	N	308	ENSP00000323688:D308N	ENSP00000323688:D308N	D	-	1	0	OR5T2	55756316	0.000000	0.05858	0.009000	0.14445	0.016000	0.09150	-0.153000	0.10144	1.274000	0.44362	0.478000	0.44815	GAC		0.403	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		12	124	0	0	0	1	0	12	124				
IGF2R	3482	broad.mit.edu	37	6	160471653	160471653	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160471653G>A	ENST00000356956.1	+	19	2811	c.2663G>A	c.(2662-2664)aGg>aAg	p.R888K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	888					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)			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)	TATACCACGAGGATCCATCTC	0.582																																						ENST00000356956.1																			0				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						c.(2662-2664)aGg>aAg		insulin-like growth factor 2 receptor							68.0	57.0	61.0					6																	160471653		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160471653G>A	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.2663G>A	6.37:g.160471653G>A	ENSP00000349437:p.Arg888Lys						p.R888K	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	19	2811	+		Breast(66;0.000777)|Ovarian(120;0.0305)	888					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2663G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	8.912	0.958858	0.18507	.	.	ENSG00000197081	ENST00000356956	T	0.03860	3.78	5.27	5.27	0.74061	Mannose-6-phosphate receptor, binding (1);	0.133026	0.48286	D	0.000185	T	0.05364	0.0142	M	0.78916	2.43	0.34739	D	0.730606	D	0.57257	0.979	P	0.52343	0.696	T	0.31364	-0.9946	10	0.11182	T	0.66	-6.6154	9.3185	0.37948	0.0:0.1668:0.6823:0.1509	.	888	P11717	MPRI_HUMAN	K	888	ENSP00000349437:R888K	ENSP00000349437:R888K	R	+	2	0	IGF2R	160391643	0.967000	0.33354	0.970000	0.41538	0.360000	0.29518	2.707000	0.47143	2.469000	0.83416	0.491000	0.48974	AGG		0.582	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		6	27	0	0	0	1	0	6	27				
IFRD1	3475	broad.mit.edu	37	7	112112336	112112336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:112112336G>A	ENST00000403825.3	+	10	1365	c.1104G>A	c.(1102-1104)tgG>tgA	p.W368*	IFRD1_ENST00000005558.4_Nonsense_Mutation_p.W368*|IFRD1_ENST00000535603.1_Nonsense_Mutation_p.W318*	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	368					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTGATTGCTGGGTAAAAAAAC	0.393																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(1102-1104)tgG>tgA		interferon-related developmental regulator 1							138.0	132.0	134.0					7																	112112336		2203	4300	6503	SO:0001587	stop_gained	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112336G>A	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1104G>A	7.37:g.112112336G>A	ENSP00000384477:p.Trp368*					IFRD1_ENST00000535603.1_Nonsense_Mutation_p.W318*|IFRD1_ENST00000005558.4_Nonsense_Mutation_p.W368*	p.W368*	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			10	1365	+			368					B7Z5G1|O75234|Q5U013|Q9BVE4	Nonsense_Mutation	SNP	ENST00000403825.3	37	c.1104G>A	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	37	6.550365	0.97654	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6571	20.3422	0.98769	0.0:0.0:1.0:0.0	.	.	.	.	X	368;368;103;318;31	.	ENSP00000005558:W368X	W	+	3	0	IFRD1	111899572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.487000	0.97945	2.810000	0.96702	0.655000	0.94253	TGG		0.393	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		47	136	0	0	0	1	0	47	136				
YY2	404281	broad.mit.edu	37	X	21874964	21874964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:21874964C>T	ENST00000429584.2	+	1	860	c.362C>T	c.(361-363)gCc>gTc	p.A121V	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ATGACCCTGGCCTCTCTGTCG	0.582																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(361-363)gCc>gTc		YY2 transcription factor							60.0	51.0	54.0					X																	21874964		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21874964C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.362C>T	X.37:g.21874964C>T	ENSP00000389381:p.Ala121Val					MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	p.A121V	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	860	+			121					B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.362C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	3.492	-0.103676	0.06967	.	.	ENSG00000230797	ENST00000429584	T	0.09255	3.0	3.84	3.84	0.44239	.	0.346019	0.25414	U	0.030856	T	0.05410	0.0143	N	0.21194	0.64	0.09310	N	1	B	0.31680	0.335	B	0.26614	0.071	T	0.35847	-0.9772	10	0.11182	T	0.66	.	6.4845	0.22081	0.0:0.8701:0.0:0.1299	.	121	O15391	TYY2_HUMAN	V	121	ENSP00000389381:A121V	ENSP00000389381:A121V	A	+	2	0	YY2	21784885	0.172000	0.23043	0.003000	0.11579	0.018000	0.09664	1.660000	0.37397	2.177000	0.69029	0.600000	0.82982	GCC		0.582	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		17	31	0	0	0	1	0	17	31				
KCNQ4	9132	broad.mit.edu	37	1	41285847	41285847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:41285847G>A	ENST00000347132.5	+	7	1038	c.956G>A	c.(955-957)gGc>gAc	p.G319D	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.G319D	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	319					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GGCATCCTAGGCTCCGGCTTT	0.622																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(955-957)gGc>gAc		potassium voltage-gated channel, KQT-like subfamily, member 4							42.0	34.0	37.0					1																	41285847		2202	4300	6502	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41285847G>A	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.956G>A	1.37:g.41285847G>A	ENSP00000262916:p.Gly319Asp					KCNQ4_ENST00000509682.2_Missense_Mutation_p.G319D|KCNQ4_ENST00000506017.1_3'UTR	p.G319D	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		7	1038	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	319					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.956G>A	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121174	0.94385	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.97620	-4.46;-4.46	5.27	5.27	0.74061	.	0.099244	0.64402	D	0.000002	D	0.98216	0.9410	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99260	1.0890	10	0.87932	D	0	-29.9323	16.3736	0.83374	0.0:0.0:1.0:0.0	.	319;319	P56696-2;P56696	.;KCNQ4_HUMAN	D	319	ENSP00000262916:G319D;ENSP00000423756:G319D	ENSP00000262916:G319D	G	+	2	0	KCNQ4	41058434	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	9.869000	0.99810	2.470000	0.83445	0.655000	0.94253	GGC		0.622	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		4	11	0	0	0	1	0	4	11				
SCYL2	55681	broad.mit.edu	37	12	100711635	100711635	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:100711635G>A	ENST00000360820.2	+	10	1764	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	443					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AACCCCTCCTGATGAGATAAA	0.338																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1327-1329)Gat>Aat		SCY1-like 2 (S. cerevisiae)							85.0	81.0	82.0					12																	100711635		2203	4299	6502	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100711635G>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1327G>A	12.37:g.100711635G>A	ENSP00000354061:p.Asp443Asn						p.D443N	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			10	1764	+			443					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.1327G>A	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911659	0.72983	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.32753	1.44;1.44	5.23	5.23	0.72850	Armadillo-like helical (1);Armadillo-type fold (1);	0.043475	0.85682	D	0.000000	T	0.25865	0.0630	N	0.21617	0.685	0.80722	D	1	B	0.21688	0.059	B	0.22601	0.04	T	0.03384	-1.1042	10	0.41790	T	0.15	.	19.1621	0.93537	0.0:0.0:1.0:0.0	.	443	Q6P3W7	SCYL2_HUMAN	N	443;270;443	ENSP00000448366:D443N;ENSP00000354061:D443N	ENSP00000258506:D270N	D	+	1	0	SCYL2	99235766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.597000	0.87782	0.650000	0.86243	GAT		0.338	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		6	69	0	0	0	1	0	6	69				
PALD1	27143	broad.mit.edu	37	10	72298978	72298978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:72298978C>T	ENST00000263563.6	+	14	1968	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	567						cytosol (GO:0005829)											TGGCCTGGGCCCCCTGTGGCT	0.682																																						ENST00000263563.6																			0											c.(1699-1701)cCc>cTc		phosphatase domain containing, paladin 1							48.0	40.0	43.0					10																	72298978		2200	4300	6500	SO:0001583	missense	27143							g.chr10:72298978C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1700C>T	10.37:g.72298978C>T	ENSP00000263563:p.Pro567Leu						p.P567L	NM_014431.2	NP_055246.2					14	1968	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1700C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.996916	0.54147	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.29655	1.56	4.52	3.54	0.40534	.	0.110082	0.64402	D	0.000006	T	0.48732	0.1516	M	0.81942	2.565	0.53005	D	0.999965	D	0.55800	0.973	P	0.56434	0.798	T	0.53620	-0.8413	10	0.52906	T	0.07	-26.9745	11.6302	0.51168	0.1774:0.8226:0.0:0.0	.	567	Q9ULE6	PALD_HUMAN	L	567	ENSP00000263563:P567L	ENSP00000263563:P567L	P	+	2	0	KIAA1274	71968984	0.037000	0.19845	0.978000	0.43139	0.620000	0.37586	0.484000	0.22308	2.236000	0.73375	0.537000	0.68136	CCC		0.682	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		3	14	0	0	0	1	0	3	14				
HIAT1	64645	broad.mit.edu	37	1	100547616	100547616	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100547616C>T	ENST00000370152.3	+	12	1460	c.1324C>T	c.(1324-1326)Ctg>Ttg	p.L442L	SASS6_ENST00000462159.1_5'Flank|RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	442					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACTGCTGGCTCTGCTTGTTGC	0.428																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(1324-1326)Ctg>Ttg		hippocampus abundant transcript 1							112.0	105.0	107.0					1																	100547616		2203	4300	6503	SO:0001819	synonymous_variant	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100547616C>T	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1324C>T	1.37:g.100547616C>T						RP4-714D9.2_ENST00000432294.1_RNA	p.L442L	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	12	1460	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	442					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Silent	SNP	ENST00000370152.3	37	c.1324C>T	CCDS763.1																																																																																				0.428	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		25	57	0	0	0	1	0	25	57				
FANCD2OS	115795	broad.mit.edu	37	3	10146241	10146241	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:10146241G>A	ENST00000450660.2	-	2	434	c.218C>T	c.(217-219)cCc>cTc	p.P73L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.P73L	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	73																	TGTGTGGCAGGGTAACTTGGG	0.542																																						ENST00000450660.2																			0											c.(217-219)cCc>cTc		FANCD2 opposite strand							123.0	119.0	120.0					3																	10146241		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146241G>A	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.218C>T	3.37:g.10146241G>A	ENSP00000429608:p.Pro73Leu					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.P73L	p.P73L	NM_001164839.1	NP_001158311.1					2	434	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.218C>T	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904050	0.72754	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.62	5.62	0.85841	.	0.079459	0.53938	D	0.000048	T	0.39036	0.1063	N	0.19112	0.55	0.54753	D	0.999986	P	0.44659	0.84	B	0.36885	0.235	T	0.45818	-0.9235	9	0.72032	D	0.01	.	17.2209	0.86957	0.0:0.0:1.0:0.0	.	73	Q96PS1	CC024_HUMAN	L	73	.	ENSP00000429608:P73L	P	-	2	0	C3orf24	10121241	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	2.123000	0.41996	2.673000	0.90976	0.558000	0.71614	CCC		0.542	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		17	56	0	0	0	1	0	17	56				
LRCH3	84859	broad.mit.edu	37	3	197585717	197585717	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:197585717T>C	ENST00000425562.2	+	15	1657	c.1657T>C	c.(1657-1659)Ttg>Ctg	p.L553L	LRCH3_ENST00000334859.4_Silent_p.L553L|LRCH3_ENST00000441090.2_Silent_p.L399L|LRCH3_ENST00000536618.1_Silent_p.L148L|LRCH3_ENST00000438796.2_Silent_p.L553L|LRCH3_ENST00000414675.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	553						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GCTGTCAGGGTTGAATCAAGT	0.448																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1657-1659)Ttg>Ctg		leucine-rich repeats and calponin homology (CH) domain containing 3							204.0	191.0	195.0					3																	197585717		2203	4300	6503	SO:0001819	synonymous_variant	84859					extracellular region		g.chr3:197585717T>C	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1657T>C	3.37:g.197585717T>C						LRCH3_ENST00000334859.4_Silent_p.L553L|LRCH3_ENST00000536618.1_Silent_p.L148L|LRCH3_ENST00000441090.2_Silent_p.L399L|LRCH3_ENST00000425562.2_Silent_p.L553L|LRCH3_ENST00000414675.2_Intron	p.L553L			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	15	1701	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		553					B4E0T7|Q96FP9|Q9NT52	Silent	SNP	ENST00000425562.2	37	c.1657T>C																																																																																					0.448	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		3	75	0	0	0	1	0	3	75				
ZNF91	7644	broad.mit.edu	37	19	23544976	23544976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:23544976C>T	ENST00000300619.7	-	4	1010	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E237K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	269					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTCACACTTGTAG	0.388																																						ENST00000300619.7																			0											c.(805-807)Gaa>Aaa		zinc finger protein 91							115.0	126.0	122.0					19																	23544976		2191	4296	6487	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544976C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.805G>A	19.37:g.23544976C>T	ENSP00000300619:p.Glu269Lys					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E237K	p.E269K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1010	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	269					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.805G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.527472	0.00959	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07216	3.21;3.21	1.83	-3.66	0.04489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	L	0.39085	1.19	0.09310	N	1	B;B	0.31503	0.003;0.326	B;B	0.26517	0.005;0.07	T	0.43572	-0.9383	9	0.02654	T	1	.	4.5641	0.12175	0.0:0.1919:0.3219:0.4862	.	237;269	Q05481-2;Q05481	.;ZNF91_HUMAN	K	269;237	ENSP00000300619:E269K;ENSP00000380272:E237K	ENSP00000300619:E269K	E	-	1	0	ZNF91	23336816	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.909000	0.00699	-1.089000	0.03073	0.174000	0.16983	GAA		0.388	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		37	76	0	0	0	1	0	37	76				
NEDD4	4734	broad.mit.edu	37	15	56134260	56134260	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:56134260C>T	ENST00000508342.1	-	15	3266	c.2967G>A	c.(2965-2967)aaG>aaA	p.K989K	NEDD4_ENST00000435532.3_Silent_p.K570K|NEDD4_ENST00000506154.1_Silent_p.K973K|NEDD4_ENST00000338963.2_Silent_p.K917K	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	989	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ACAGTCGAGCCTTCAGGAAGT	0.423																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2965-2967)aaG>aaA		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							110.0	108.0	108.0					15																	56134260		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56134260C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2967G>A	15.37:g.56134260C>T						NEDD4_ENST00000338963.2_Silent_p.K917K|NEDD4_ENST00000435532.3_Silent_p.K570K|NEDD4_ENST00000506154.1_Silent_p.K973K	p.K989K			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	15	3266	-			989			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.2967G>A		.	.	.	.	.	.	.	.	.	.	C	10.06	1.245820	0.22796	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.87	4.75	0.60458	.	.	.	.	.	T	0.58736	0.2143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53394	-0.8445	4	.	.	.	.	8.6801	0.34203	0.0:0.8521:0.0:0.1479	.	.	.	.	K	580	.	.	R	-	2	0	NEDD4	53921552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.945000	0.40273	2.941000	0.99782	0.655000	0.94253	AGG		0.423	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		58	102	0	0	0	1	0	58	102				
IL20RA	53832	broad.mit.edu	37	6	137323221	137323221	+	Missense_Mutation	SNP	C	C	T	rs373486228		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:137323221C>T	ENST00000316649.5	-	7	1371	c.1136G>A	c.(1135-1137)gGt>gAt	p.G379D	IL20RA_ENST00000541547.1_Missense_Mutation_p.G330D|IL20RA_ENST00000468393.1_5'Flank|IL20RA_ENST00000367748.1_Missense_Mutation_p.G268D|RP11-204P2.3_ENST00000458017.1_RNA	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	379					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GAGAGAAGTACCTTCCGTGTT	0.458																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(802-804)gGt>gAt		interleukin 20 receptor, alpha		C	ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	79.0	74.0	76.0		1136	-0.1	0.0	6		76	0,8600		0,0,4300	no	missense	IL20RA	NM_014432.2	94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	379/554	137323221	1,13005	2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137323221C>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1136G>A	6.37:g.137323221C>T	ENSP00000314976:p.Gly379Asp					IL20RA_ENST00000541547.1_Missense_Mutation_p.G330D|IL20RA_ENST00000316649.5_Missense_Mutation_p.G379D	p.G268D			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1389	-	Colorectal(23;0.24)		379					B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.803G>A	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	7.117	0.577170	0.13686	2.27E-4	0.0	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.59906	0.5;1.94;0.23	5.61	-0.104	0.13605	.	7.890630	0.00166	N	0.000000	T	0.23249	0.0562	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.03981	-1.0987	10	0.32370	T	0.25	0.03	5.3435	0.15996	0.0:0.5129:0.1421:0.345	.	268;379	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	D	379;268;330	ENSP00000314976:G379D;ENSP00000356722:G268D;ENSP00000437843:G330D	ENSP00000314976:G379D	G	-	2	0	IL20RA	137364914	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.532000	0.06164	-0.336000	0.08438	-0.137000	0.14449	GGT		0.458	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		14	77	0	0	0	1	0	14	77				
OBSL1	23363	broad.mit.edu	37	2	220427176	220427176	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220427176C>T	ENST00000404537.1	-	8	2957	c.2901G>A	c.(2899-2901)gaG>gaA	p.E967E	OBSL1_ENST00000373873.4_Silent_p.E967E|OBSL1_ENST00000603926.1_Silent_p.E967E|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Silent_p.E967E|OBSL1_ENST00000289656.3_Silent_p.E554E|OBSL1_ENST00000265318.4_Silent_p.E967E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	967	Ig-like 7.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CACACAAGTACTCGCCGGAGT	0.647																																						ENST00000404537.1																			0											c.(2899-2901)gaG>gaA		obscurin-like 1							71.0	83.0	79.0					2																	220427176		2203	4299	6502	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220427176C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2901G>A	2.37:g.220427176C>T						OBSL1_ENST00000603926.1_Silent_p.E967E|OBSL1_ENST00000265318.4_Silent_p.E967E|OBSL1_ENST00000373873.4_Silent_p.E967E|OBSL1_ENST00000289656.3_Silent_p.E554E|OBSL1_ENST00000373876.1_Silent_p.E967E	p.E967E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	8	2957	-		Renal(207;0.0376)	967			Ig-like 7.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.2901G>A	CCDS46520.1																																																																																				0.647	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			30	41	0	0	0	1	0	30	41				
PIAS1	8554	broad.mit.edu	37	15	68378846	68378846	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:68378846C>T	ENST00000249636.6	+	2	375	c.227C>T	c.(226-228)tCc>tTc	p.S76F	PIAS1_ENST00000545237.1_Missense_Mutation_p.S78F	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	76					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GCAGACTTGTCCATCCCCAAC	0.478																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(232-234)tCc>tTc		protein inhibitor of activated STAT, 1							153.0	153.0	153.0					15																	68378846		2001	4169	6170	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68378846C>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.227C>T	15.37:g.68378846C>T	ENSP00000249636:p.Ser76Phe					PIAS1_ENST00000249636.6_Missense_Mutation_p.S76F	p.S78F			O75925	PIAS1_HUMAN			3	974	+			76					B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.233C>T	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869607	0.72065	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.35048	1.33;1.33	5.52	5.52	0.82312	.	0.151092	0.64402	D	0.000011	T	0.36908	0.0984	L	0.52573	1.65	0.80722	D	1	B;P	0.38300	0.429;0.626	B;B	0.34991	0.193;0.163	T	0.33879	-0.9851	10	0.87932	D	0	-9.2235	19.0326	0.92963	0.0:1.0:0.0:0.0	.	76;76	C5J4B4;O75925	.;PIAS1_HUMAN	F	76;78	ENSP00000249636:S76F;ENSP00000438574:S78F	ENSP00000249636:S76F	S	+	2	0	PIAS1	66165900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.594000	0.87642	0.650000	0.86243	TCC		0.478	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			10	124	0	0	0	1	0	10	124				
COL5A1	1289	broad.mit.edu	37	9	137693800	137693800	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:137693800G>A	ENST00000371817.3	+	38	3367	c.2953G>A	c.(2953-2955)Ggt>Agt	p.G985S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	985	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCTTCACAGGGTTTCCAAGG	0.652																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.e38-1		collagen, type V, alpha 1							78.0	75.0	76.0					9																	137693800		2203	4299	6502	SO:0001630	splice_region_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137693800G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2953-1G>A	9.37:g.137693800G>A							p.G985_splice	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	38	3367	+		Myeloproliferative disorder(178;0.0341)	985			Triple-helical region.		Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	c.2952_splice	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082640	0.76528	.	.	ENSG00000130635	ENST00000371817	D	0.99607	-6.27	4.73	4.73	0.59995	.	0.000000	0.85682	U	0.000000	D	0.99711	0.9889	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97282	0.9918	9	.	.	.	.	17.7028	0.88300	0.0:0.0:1.0:0.0	.	985	P20908	CO5A1_HUMAN	S	985	ENSP00000360882:G985S	.	G	+	1	0	COL5A1	136833621	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	9.627000	0.98412	2.180000	0.69256	0.643000	0.83706	GGT		0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Missense_Mutation	12	39	0	0	0	1	0	12	39				
SULT1B1	27284	broad.mit.edu	37	4	70620821	70620821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:70620821C>T	ENST00000310613.3	-	2	412	c.115G>A	c.(115-117)Gat>Aat	p.D39N		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	39					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ACAATGTCATCTGGTCTGCTA	0.418																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(115-117)Gat>Aat		sulfotransferase family, cytosolic, 1B, member 1							166.0	160.0	162.0					4																	70620821		2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620821C>T	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.115G>A	4.37:g.70620821C>T	ENSP00000308770:p.Asp39Asn						p.D39N	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			2	412	-			39					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.115G>A	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530531	0.45073	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	T;T;T	0.02085	4.46;4.46;4.46	4.97	4.11	0.48088	Sulfotransferase domain (1);	0.500271	0.18116	N	0.151200	T	0.07773	0.0195	M	0.88704	2.975	0.27406	N	0.954702	P	0.48016	0.904	P	0.44860	0.462	T	0.06162	-1.0842	10	0.72032	D	0.01	.	12.938	0.58327	0.1629:0.8371:0.0:0.0	.	39	O43704	ST1B1_HUMAN	N	39;39;20	ENSP00000308770:D39N;ENSP00000425464:D39N;ENSP00000427536:D20N	ENSP00000308770:D39N	D	-	1	0	SULT1B1	70655410	1.000000	0.71417	0.216000	0.23742	0.018000	0.09664	3.859000	0.55987	1.209000	0.43321	0.591000	0.81541	GAT		0.418	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		8	116	0	0	0	1	0	8	116				
FEZF2	55079	broad.mit.edu	37	3	62358434	62358434	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:62358434G>A	ENST00000283268.3	-	2	404	c.110C>T	c.(109-111)gCc>gTc	p.A37V	FEZF2_ENST00000486811.1_Missense_Mutation_p.A37V|FEZF2_ENST00000475839.1_Missense_Mutation_p.A37V	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	37					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGACGTCTTGGCCATGATGCG	0.692																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(109-111)gCc>gTc		FEZ family zinc finger 2							22.0	24.0	23.0					3																	62358434		2202	4300	6502	SO:0001583	missense	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62358434G>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.110C>T	3.37:g.62358434G>A	ENSP00000283268:p.Ala37Val					FEZF2_ENST00000475839.1_Missense_Mutation_p.A37V|FEZF2_ENST00000486811.1_Missense_Mutation_p.A37V	p.A37V	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	2	404	-		Lung SC(41;0.0262)	37					A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	ENST00000283268.3	37	c.110C>T	CCDS2897.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646837	0.67358	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.14893	2.47;2.47;2.47	5.11	5.11	0.69529	.	0.103197	0.64402	D	0.000002	T	0.24967	0.0606	M	0.66939	2.045	0.58432	D	0.999998	P	0.40970	0.734	B	0.39617	0.305	T	0.06807	-1.0806	10	0.87932	D	0	-17.2713	18.1386	0.89631	0.0:0.0:1.0:0.0	.	37	Q8TBJ5	FEZF2_HUMAN	V	37	ENSP00000418589:A37V;ENSP00000283268:A37V;ENSP00000418804:A37V	ENSP00000283268:A37V	A	-	2	0	FEZF2	62333474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.827000	0.86722	2.404000	0.81709	0.561000	0.74099	GCC		0.692	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		11	28	0	0	0	1	0	11	28				
NUMA1	4926	broad.mit.edu	37	11	71719778	71719778	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:71719778G>A	ENST00000393695.3	-	20	5503	c.5172C>T	c.(5170-5172)agC>agT	p.S1724S	NUMA1_ENST00000358965.6_Silent_p.S1710S|NUMA1_ENST00000351960.6_Silent_p.S588S	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGATCCAGGCTGTCAATAC	0.557			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5170-5172)agC>agT		nuclear mitotic apparatus protein 1							77.0	76.0	76.0					11																	71719778		2200	4293	6493	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71719778G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5172C>T	11.37:g.71719778G>A						NUMA1_ENST00000358965.6_Silent_p.S1710S|NUMA1_ENST00000351960.6_Silent_p.S588S	p.S1724S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			20	5503	-			1724						Silent	SNP	ENST00000393695.3	37	c.5172C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	9.238	1.037466	0.19669	.	.	ENSG00000137497	ENST00000541584	.	.	.	4.74	3.82	0.43975	.	.	.	.	.	T	0.63367	0.2505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62167	-0.6911	4	.	.	.	.	12.5486	0.56214	0.0812:0.0:0.9188:0.0	.	.	.	.	V	555	.	.	A	-	2	0	NUMA1	71397426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.895000	0.39778	1.351000	0.45789	0.561000	0.74099	GCC		0.557	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			6	63	0	0	0	1	0	6	63				
ANO6	196527	broad.mit.edu	37	12	45740846	45740846	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:45740846C>T	ENST00000320560.8	+	4	523	c.321C>T	c.(319-321)ggC>ggT	p.G107G	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Silent_p.G107G|ANO6_ENST00000435642.1_Silent_p.G107G|ANO6_ENST00000423947.3_Silent_p.G128G|ANO6_ENST00000441606.2_Silent_p.G89G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	107					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTGTCATGGCCTGCAGTTAG	0.448																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(319-321)ggC>ggT		anoctamin 6							168.0	151.0	157.0					12																	45740846		2203	4300	6503	SO:0001819	synonymous_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45740846C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.321C>T	12.37:g.45740846C>T						ANO6_ENST00000441606.2_Silent_p.G89G|ANO6_ENST00000423947.3_Silent_p.G128G|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Silent_p.G107G|ANO6_ENST00000435642.1_Silent_p.G107G	p.G107G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			4	523	+			107					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	c.321C>T	CCDS31782.1																																																																																				0.448	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		5	74	0	0	0	1	0	5	74				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		10	100	0	0	0	1	0	10	100				
UTRN	7402	broad.mit.edu	37	6	144774976	144774976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:144774976G>A	ENST00000367545.3	+	18	2255	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	752	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACCAAACTGGACAAATCCTT	0.363																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2254-2256)gGa>gAa		utrophin							89.0	95.0	93.0					6																	144774976		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144774976G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2255G>A	6.37:g.144774976G>A	ENSP00000356515:p.Gly752Glu						p.G752E	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	18	2255	+		Ovarian(120;0.218)	752			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.2255G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145128	0.57044	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.44482	0.92	5.87	5.87	0.94306	.	0.000000	0.51477	D	0.000093	T	0.36082	0.0954	L	0.34521	1.04	0.80722	D	1	D	0.61697	0.99	P	0.56823	0.807	T	0.04078	-1.0979	10	0.32370	T	0.25	.	14.129	0.65240	0.0:0.0:0.8503:0.1497	.	752	P46939	UTRO_HUMAN	E	752	ENSP00000356515:G752E	ENSP00000356499:G752E	G	+	2	0	UTRN	144816669	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	4.625000	0.61262	2.780000	0.95670	0.655000	0.94253	GGA		0.363	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			5	49	0	0	0	1	0	5	49				
TRIML1	339976	broad.mit.edu	37	4	189060798	189060798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:189060798C>T	ENST00000332517.3	+	1	226	c.86C>T	c.(85-87)aCc>aTc	p.T29I	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	29					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCAGTGACCACCGAGTGTGGG	0.522																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(85-87)aCc>aTc		tripartite motif family-like 1							177.0	175.0	176.0					4																	189060798		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060798C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.86C>T	4.37:g.189060798C>T	ENSP00000327738:p.Thr29Ile						p.T29I	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	226	+		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	29					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.86C>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	8.850	0.944328	0.18356	.	.	ENSG00000184108	ENST00000332517	T	0.04194	3.68	5.59	4.54	0.55810	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000055	T	0.02888	0.0086	N	0.05230	-0.09	0.29198	N	0.875439	P	0.51791	0.948	P	0.50896	0.653	T	0.37174	-0.9717	10	0.02654	T	1	-21.4373	5.9317	0.19142	0.0:0.7817:0.0:0.2183	.	29	Q8N9V2	TRIML_HUMAN	I	29	ENSP00000327738:T29I	ENSP00000327738:T29I	T	+	2	0	TRIML1	189297792	0.005000	0.15991	0.996000	0.52242	0.982000	0.71751	1.557000	0.36299	2.804000	0.96469	0.655000	0.94253	ACC		0.522	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		18	127	0	0	0	1	0	18	127				
TOP2A	7153	broad.mit.edu	37	17	38572743	38572743	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:38572743C>T	ENST00000423485.1	-	3	357	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	67					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATGCCAACATCTTCATCGTAA	0.308																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(199-201)Gat>Aat		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						48.0	44.0	46.0					17																	38572743		1823	4072	5895	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38572743C>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.199G>A	17.37:g.38572743C>T	ENSP00000411532:p.Asp67Asn						p.D67N	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		3	357	-		Breast(137;0.00328)	67					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.199G>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219768	0.79464	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.23552	1.9	4.83	4.83	0.62350	ATPase-like, ATP-binding domain (2);	0.052566	0.64402	D	0.000001	T	0.26810	0.0656	L	0.47016	1.485	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03534	-1.1027	10	0.37606	T	0.19	.	18.312	0.90203	0.0:1.0:0.0:0.0	.	67	P11388	TOP2A_HUMAN	N	67;66;66;67	ENSP00000411532:D67N	ENSP00000269577:D66N	D	-	1	0	TOP2A	35826269	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.980000	0.70516	2.384000	0.81235	0.655000	0.94253	GAT		0.308	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			3	9	0	0	0	1	0	3	9				
AMY2B	280	broad.mit.edu	37	1	104116935	104116935	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:104116935C>T	ENST00000361355.4	+	7	1414	c.798C>T	c.(796-798)ggC>ggT	p.G266G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	266					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGGAAATGGCCGGGTGACAG	0.368																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(796-798)ggC>ggT		amylase, alpha 2B (pancreatic)							164.0	168.0	166.0					1																	104116935		2203	4296	6499	SO:0001819	synonymous_variant	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104116935C>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.798C>T	1.37:g.104116935C>T						AMY2B_ENST00000491397.1_3'UTR	p.G266G	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	7	1414	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	266					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	ENST00000361355.4	37	c.798C>T	CCDS782.1																																																																																				0.368	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		31	342	0	0	0	1	0	31	342				
MYCN	4613	broad.mit.edu	37	2	16085904	16085904	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:16085904G>A	ENST00000281043.3	+	3	1377	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	360					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTCCGCTCAAGAGTGTCATCC	0.602			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1078-1080)aaG>aaA		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							45.0	45.0	45.0					2																	16085904		2203	4300	6503	SO:0001819	synonymous_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16085904G>A	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1080G>A	2.37:g.16085904G>A							p.K360K	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1377	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		360					Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	c.1080G>A	CCDS1687.1																																																																																				0.602	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		11	875	0	0	0	1	0	11	875				
AGO4	192670	broad.mit.edu	37	1	36299730	36299730	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36299730C>T	ENST00000373210.3	+	12	1764	c.1519C>T	c.(1519-1521)Cta>Tta	p.L507L		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	507					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TTATGTGGGCCTACAGCTAAT	0.438																																						ENST00000373210.3																			0											c.(1519-1521)Cta>Tta		argonaute RISC catalytic component 4							142.0	127.0	132.0					1																	36299730		2203	4300	6503	SO:0001819	synonymous_variant	192670							g.chr1:36299730C>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1519C>T	1.37:g.36299730C>T							p.L507L	NM_017629.3	NP_060099.2					12	1764	+								A7MD27	Silent	SNP	ENST00000373210.3	37	c.1519C>T	CCDS397.1																																																																																				0.438	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		40	85	0	0	0	1	0	40	85				
C6orf15	29113	broad.mit.edu	37	6	31080013	31080013	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31080013C>T	ENST00000259870.3	-	2	126	c.123G>A	c.(121-123)ggG>ggA	p.G41G	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	41					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GCAAGTTGGTCCCCAAGTTTT	0.567																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(121-123)ggG>ggA		chromosome 6 open reading frame 15							130.0	153.0	145.0					6																	31080013		2167	4263	6430	SO:0001819	synonymous_variant	29113							g.chr6:31080013C>T	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.123G>A	6.37:g.31080013C>T							p.G41G	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	126	-			41					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.123G>A	CCDS4693.1																																																																																				0.567	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		6	79	0	0	0	1	0	6	79				
ATRIP	84126	broad.mit.edu	37	3	48501566	48501566	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48501566C>T	ENST00000320211.3	+	8	1226	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	ATRIP_ENST00000346691.4_Silent_p.S371S|ATRIP_ENST00000357105.6_Silent_p.S244S|ATRIP_ENST00000412052.1_Silent_p.S278S	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	371					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTCATTTTCCCTCTCAGCCC	0.507								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(832-834)tcC>tcT	Other conserved DNA damage response genes	ATR interacting protein							59.0	59.0	59.0					3																	48501566		2203	4300	6503	SO:0001819	synonymous_variant	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48501566C>T	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1113C>T	3.37:g.48501566C>T						ATRIP_ENST00000320211.3_Silent_p.S371S|ATRIP_ENST00000357105.6_Silent_p.S244S|ATRIP_ENST00000346691.4_Silent_p.S371S	p.S278S	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1296	+			371					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Silent	SNP	ENST00000320211.3	37	c.834C>T	CCDS2768.1																																																																																				0.507	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		15	74	0	0	0	1	0	15	74				
IL22RA2	116379	broad.mit.edu	37	6	137468975	137468975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:137468975C>T	ENST00000296980.2	-	6	826	c.526G>A	c.(526-528)Gta>Ata	p.V176I	IL22RA2_ENST00000339602.3_Intron|IL22RA2_ENST00000349184.4_Missense_Mutation_p.V144I	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	176	Fibronectin type-III 3.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TGGAGAATTACCAACAAAGAG	0.289																																						ENST00000296980.2																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(526-528)Gta>Ata		interleukin 22 receptor, alpha 2							101.0	112.0	108.0					6																	137468975		2203	4295	6498	SO:0001583	missense	0				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137468975C>T	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.526G>A	6.37:g.137468975C>T	ENSP00000296980:p.Val176Ile					IL22RA2_ENST00000349184.4_Missense_Mutation_p.V144I|IL22RA2_ENST00000339602.3_Intron	p.V176I	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	6	826	-	Colorectal(23;0.24)		176			Fibronectin type-III 3.		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Missense_Mutation	SNP	ENST00000296980.2	37	c.526G>A	CCDS5182.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138702	0.37728	.	.	ENSG00000164485	ENST00000349184;ENST00000296980	T;T	0.52983	0.64;0.64	5.58	2.69	0.31865	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.232566	0.34386	N	0.004010	T	0.38506	0.1043	M	0.71581	2.175	0.19945	N	0.999942	D;D	0.64830	0.992;0.994	P;P	0.61658	0.892;0.873	T	0.15407	-1.0438	10	0.15066	T	0.55	.	4.9661	0.14091	0.1488:0.6193:0.1451:0.0868	.	144;176	Q969J5-2;Q969J5	.;I22R2_HUMAN	I	144;176	ENSP00000296979:V144I;ENSP00000296980:V176I	ENSP00000296980:V176I	V	-	1	0	IL22RA2	137510668	0.306000	0.24490	0.103000	0.21229	0.300000	0.27592	0.518000	0.22847	1.354000	0.45846	0.655000	0.94253	GTA		0.289	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1			16	86	0	0	0	1	0	16	86				
SMC1B	27127	broad.mit.edu	37	22	45758825	45758825	+	Silent	SNP	C	C	T	rs545952313		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:45758825C>T	ENST00000357450.4	-	16	2501	c.2502G>A	c.(2500-2502)aaG>aaA	p.K834K	SMC1B_ENST00000404354.3_Silent_p.K834K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	834					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATGTGTTGATCTTATTCAGTT	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		19437	0.0		0.0	False		,,,				2504	0.001					ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2500-2502)aaG>aaA		structural maintenance of chromosomes 1B							171.0	156.0	161.0					22																	45758825		1837	4085	5922	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45758825C>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2502G>A	22.37:g.45758825C>T						SMC1B_ENST00000404354.3_Silent_p.K834K	p.K834K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	16	2501	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	834					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.2502G>A	CCDS43027.1																																																																																				0.318	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		5	70	0	0	0	1	0	5	70				
MSH6	2956	broad.mit.edu	37	2	48033352	48033352	+	Missense_Mutation	SNP	C	C	T	rs63750949		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:48033352C>T	ENST00000234420.5	+	8	3808	c.3656C>T	c.(3655-3657)aCt>aTt	p.T1219I	MSH6_ENST00000540021.1_Missense_Mutation_p.T1089I|MSH6_ENST00000538136.1_Missense_Mutation_p.T917I|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1219			T -> I (in CRC; unknown pathological significance). {ECO:0000269|PubMed:11709755}.		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.T1219I(4)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAAGAGGTACTGCAACATTT	0.323			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		6	Substitution - Missense(4)|Whole gene deletion(2)	p.T1219I(4)|p.0?(2)	haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|endometrium(1)|skin(1)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229	GRCh37	CM020039	MSH6	M	rs63750949	c.(3655-3657)aCt>aTt	Mismatch excision repair (MMR)	mutS homolog 6							69.0	66.0	67.0					2																	48033352		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48033352C>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3656C>T	2.37:g.48033352C>T	ENSP00000234420:p.Thr1219Ile					MSH6_ENST00000540021.1_Missense_Mutation_p.T1089I|MSH6_ENST00000538136.1_Missense_Mutation_p.T917I|FBXO11_ENST00000405808.1_Intron	p.T1219I	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	3808	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1219		T -> I (in CRC; uncertain pathogenicity).			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.3656C>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945692	0.92593	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.89939	-2.59;-2.59;-2.59	5.36	5.36	0.76844	DNA mismatch repair protein MutS, C-terminal (3);	0.091363	0.85682	D	0.000000	D	0.97065	0.9041	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98235	1.0485	10	0.87932	D	0	-21.0411	19.2914	0.94102	0.0:1.0:0.0:0.0	rs63750949	1089;1219	B4DF41;P52701	.;MSH6_HUMAN	I	1219;185;1089;917	ENSP00000234420:T1219I;ENSP00000446475:T1089I;ENSP00000438580:T917I	ENSP00000234420:T1219I	T	+	2	0	MSH6	47886856	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.436000	0.80404	2.793000	0.96121	0.561000	0.74099	ACT		0.323	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		17	35	0	0	0	1	0	17	35				
EFTUD1	79631	broad.mit.edu	37	15	82554106	82554106	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:82554106C>T	ENST00000268206.7	-	2	182	c.14G>A	c.(13-15)aGt>aAt	p.S5N	FAM154B_ENST00000566861.1_5'Flank|FAM154B_ENST00000565432.1_5'Flank|FAM154B_ENST00000566205.1_5'Flank|FAM154B_ENST00000339465.5_5'Flank|EFTUD1_ENST00000359445.3_Missense_Mutation_p.S5N|FAM154B_ENST00000427381.2_5'Flank	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	5					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTATCCAAACTGTTGAGCAC	0.343																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(13-15)aGt>aAt		elongation factor Tu GTP binding domain containing 1							131.0	114.0	119.0					15																	82554106		1823	4090	5913	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82554106C>T	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.14G>A	15.37:g.82554106C>T	ENSP00000268206:p.Ser5Asn					EFTUD1_ENST00000359445.3_Missense_Mutation_p.S5N	p.S5N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			2	182	-			5					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.14G>A	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635859	0.29068	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.76709	-1.04;-1.04	3.71	3.71	0.42584	.	0.084176	0.48767	D	0.000175	T	0.68449	0.3002	L	0.43554	1.36	0.36928	D	0.891728	B;B	0.16166	0.016;0.003	B;B	0.20184	0.028;0.012	T	0.68930	-0.5279	10	0.36615	T	0.2	-6.0228	10.1438	0.42751	0.0:0.8992:0.0:0.1008	.	5;5	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	N	5	ENSP00000268206:S5N;ENSP00000352418:S5N	ENSP00000268206:S5N	S	-	2	0	EFTUD1	80341161	0.989000	0.36119	0.875000	0.34327	0.929000	0.56500	3.066000	0.50002	1.914000	0.55421	0.536000	0.68110	AGT		0.343	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		20	68	0	0	0	1	0	20	68				
PTRH1	138428	broad.mit.edu	37	9	130476387	130476387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:130476387C>T	ENST00000419060.1	-	6	2093	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	PTRH1_ENST00000423807.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank|PTRH1_ENST00000543175.1_Missense_Mutation_p.G213R|TTC16_ENST00000373289.3_5'Flank|TTC16_ENST00000393748.4_5'Flank|C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Intron			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	213						mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						TGTCACGGCCCCAGTGAGGGC	0.617																																						ENST00000419060.1																			0				NS(1)	1						c.(637-639)Ggg>Agg		peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)																																				SO:0001583	missense	138428				translation		aminoacyl-tRNA hydrolase activity|protein binding	g.chr9:130476387C>T	AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.637G>A	9.37:g.130476387C>T	ENSP00000418661:p.Gly213Arg					C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000423807.1_3'UTR|PTRH1_ENST00000543175.1_Missense_Mutation_p.G213R|C9orf117_ENST00000464092.1_3'UTR	p.G213R			Q86Y79	PTH_HUMAN			6	2093	-			213						Missense_Mutation	SNP	ENST00000419060.1	37	c.637G>A	CCDS35147.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409408	0.42715	.	.	ENSG00000187024	ENST00000419060;ENST00000543175	.	.	.	4.49	3.59	0.41128	.	0.454124	0.20262	N	0.095853	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.33299	0.407	B	0.33750	0.169	T	0.11767	-1.0574	9	0.56958	D	0.05	-7.2462	7.7906	0.29119	0.0:0.8018:0.0:0.1982	.	213	Q86Y79	PTH_HUMAN	R	213	.	ENSP00000418661:G213R	G	-	1	0	PTRH1	129516208	0.000000	0.05858	0.022000	0.16811	0.052000	0.14988	0.172000	0.16704	1.201000	0.43203	0.561000	0.74099	GGG		0.617	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	NM_001002913		6	10	0	0	0	1	0	6	10				
SIRPB1	10326	broad.mit.edu	37	20	1552467	1552467	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:1552467G>A	ENST00000381605.4	-	3	714	c.650C>T	c.(649-651)aCc>aTc	p.T217I	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	217	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTCCCCACGGGTCAGCACCAC	0.572																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(649-651)aCc>aTc		signal-regulatory protein beta 1							167.0	145.0	152.0					20																	1552467		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552467G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.650C>T	20.37:g.1552467G>A	ENSP00000371018:p.Thr217Ile					SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	p.T217I	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			3	714	-			217			Ig-like C1-type 1.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.650C>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.264329	0.23136	.	.	ENSG00000101307	ENST00000381605	T	0.02974	4.09	2.47	-1.37	0.09056	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.912360	0.02066	N	0.051173	T	0.06872	0.0175	M	0.64170	1.965	0.09310	N	1	P	0.39535	0.677	P	0.46825	0.528	T	0.33240	-0.9876	10	0.44086	T	0.13	.	4.5899	0.12301	0.0:0.2163:0.3442:0.4396	.	217	O00241	SIRB1_HUMAN	I	217	ENSP00000371018:T217I	ENSP00000371018:T217I	T	-	2	0	SIRPB1	1500467	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.696000	0.05104	-0.011000	0.14247	-1.535000	0.00915	ACC		0.572	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		8	97	0	0	0	1	0	8	97				
TNFRSF8	943	broad.mit.edu	37	1	12164499	12164499	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:12164499G>A	ENST00000263932.2	+	4	554	c.332G>A	c.(331-333)gGc>gAc	p.G111D	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	111					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TGTCGACCCGGCATGTTCTGT	0.582																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(331-333)gGc>gAc		tumor necrosis factor receptor superfamily, member 8							171.0	127.0	142.0					1																	12164499		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12164499G>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.332G>A	1.37:g.12164499G>A	ENSP00000263932:p.Gly111Asp					TNFRSF8_ENST00000417814.2_5'UTR	p.G111D	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	554	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	111					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.332G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228273	0.58777	.	.	ENSG00000120949	ENST00000263932	T	0.35236	1.32	4.92	4.92	0.64577	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.000000	0.64402	D	0.000013	T	0.59362	0.2188	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59820	-0.7382	10	0.49607	T	0.09	-44.5951	14.3555	0.66735	0.0:0.0:1.0:0.0	.	111	P28908	TNR8_HUMAN	D	111	ENSP00000263932:G111D	ENSP00000263932:G111D	G	+	2	0	TNFRSF8	12087086	1.000000	0.71417	0.997000	0.53966	0.142000	0.21351	4.870000	0.63035	2.665000	0.90641	0.650000	0.86243	GGC		0.582	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			7	37	0	0	0	1	0	7	37				
EPO	2056	broad.mit.edu	37	7	100319290	100319290	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100319290G>A	ENST00000252723.2	+	2	304	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	41					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCCTGGAGAGGTACCTCTTGG	0.632																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(121-123)agG>agA		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						51.0	46.0	47.0					7																	100319290		2203	4300	6503	SO:0001819	synonymous_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100319290G>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.123G>A	7.37:g.100319290G>A							p.R41R	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			2	304	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		41					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.123G>A	CCDS5705.1																																																																																				0.632	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		10	49	0	0	0	1	0	10	49				
ARIH2	10425	broad.mit.edu	37	3	49020411	49020411	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49020411G>A	ENST00000356401.4	+	15	1748	c.1409G>A	c.(1408-1410)gGg>gAg	p.G470E	ARIH2_ENST00000449376.1_Splice_Site_p.G470E|RP13-131K19.7_ENST00000609473.1_lincRNA|RP13-131K19.1_ENST00000429681.1_RNA|RP13-131K19.2_ENST00000452042.1_RNA|RP13-131K19.1_ENST00000415982.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	470					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TATGACAGAGGGGTAAGTGCC	0.512																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.e15+1		ariadne RBR E3 ubiquitin protein ligase 2							97.0	89.0	92.0					3																	49020411		2203	4300	6503	SO:0001630	splice_region_variant	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49020411G>A	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.1410+1G>A	3.37:g.49020411G>A						RP13-131K19.1_ENST00000429681.1_RNA|ARIH2_ENST00000449376.1_Splice_Site_p.G470_splice|RP13-131K19.1_ENST00000415982.1_RNA	p.G470_splice	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	15	1748	+			470					Q9HBZ6|Q9UEM9	Splice_Site	SNP	ENST00000356401.4	37	c.1410_splice	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634636	0.87660	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	T;T	0.81415	-1.49;-1.49	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.83257	0.5215	L	0.52266	1.64	0.80722	D	1	B;B;D	0.69078	0.001;0.001;0.997	B;B;P	0.62813	0.002;0.002;0.907	T	0.77016	-0.2744	10	0.02654	T	1	.	15.8763	0.79166	0.0658:0.0:0.9342:0.0	.	395;470;470	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	E	470;470;387;294	ENSP00000348769:G470E;ENSP00000403222:G470E	ENSP00000348769:G470E	G	+	2	0	ARIH2	48995415	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.295000	0.78780	2.937000	0.99478	0.650000	0.86243	GGG		0.512	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321	Missense_Mutation	22	36	0	0	0	1	0	22	36				
KMT2A	4297	broad.mit.edu	37	11	118363924	118363924	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118363924C>T	ENST00000389506.5	+	16	5148	c.5148C>T	c.(5146-5148)gaC>gaT	p.D1716D	KMT2A_ENST00000534358.1_Silent_p.D1719D|KMT2A_ENST00000354520.4_Silent_p.D1678D			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1716	Bromo; divergent. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)										GGAAGATGGACCAAGGGAATT	0.463																																						ENST00000534358.1																			0											c.(5155-5157)gaC>gaT		lysine (K)-specific methyltransferase 2A							113.0	102.0	106.0					11																	118363924		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118363924C>T	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.5148C>T	11.37:g.118363924C>T						KMT2A_ENST00000354520.4_Silent_p.D1678D|KMT2A_ENST00000389506.5_Silent_p.D1716D	p.D1719D	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					16	5180	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.5157C>T	CCDS31686.1																																																																																				0.463	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		27	42	0	0	0	1	0	27	42				
UQCRC2	7385	broad.mit.edu	37	16	21968888	21968888	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:21968888G>A	ENST00000268379.4	+	3	1031		c.e3+1		UQCRC2_ENST00000561553.1_Splice_Site	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		ATCCAGTCTGGTGAGTATCTT	0.383																																					Colon(123;450 1645 12841 25393 45623)	ENST00000268379.4																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.e3+1		ubiquinol-cytochrome c reductase core protein II							161.0	138.0	146.0					16																	21968888		2198	4300	6498	SO:0001630	splice_region_variant	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21968888G>A	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.267+1G>A	16.37:g.21968888G>A						UQCRC2_ENST00000561553.1_Splice_Site		NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	3	1031	+								B3KSN4|Q9BQ05	Splice_Site	SNP	ENST00000268379.4	37		CCDS10601.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471569	0.43942	.	.	ENSG00000140740	ENST00000268379	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6661	0.88203	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UQCRC2	21876389	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	9.322000	0.96357	2.569000	0.86673	0.655000	0.94253	.		0.383	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366	Intron	4	172	0	0	0	1	0	4	172				
ZNF770	54989	broad.mit.edu	37	15	35275297	35275297	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:35275297C>T	ENST00000356321.4	-	3	683	c.339G>A	c.(337-339)caG>caA	p.Q113Q		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	113					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATCTTCTGACCTGTTTAACAT	0.373																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(337-339)caG>caA		zinc finger protein 770							103.0	102.0	103.0					15																	35275297		2201	4298	6499	SO:0001819	synonymous_variant	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275297C>T	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.339G>A	15.37:g.35275297C>T							p.Q113Q	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	683	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	113					Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	37	c.339G>A	CCDS10042.1																																																																																				0.373	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		5	105	0	0	0	1	0	5	105				
KCNN4	3783	broad.mit.edu	37	19	44273883	44273883	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44273883C>T	ENST00000262888.3	-	5	1313	c.918G>A	c.(916-918)caG>caA	p.Q306Q		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	306	Calmodulin-binding.				calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CTTTGGTATACTGGATATCCA	0.577																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(916-918)caG>caA		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						226.0	206.0	213.0					19																	44273883		2203	4300	6503	SO:0001819	synonymous_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44273883C>T	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.918G>A	19.37:g.44273883C>T							p.Q306Q	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			5	1313	-		Prostate(69;0.0352)	306			Calmodulin-binding.		Q53XR4	Silent	SNP	ENST00000262888.3	37	c.918G>A	CCDS12630.1																																																																																				0.577	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		25	64	0	0	0	1	0	25	64				
RAB25	57111	broad.mit.edu	37	1	156038168	156038168	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156038168C>T	ENST00000361084.5	+	3	588	c.347C>T	c.(346-348)gCc>gTc	p.A116V	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	116					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CATGCTGAAGCCACGATCGTC	0.597																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(346-348)gCc>gTc		RAB25, member RAS oncogene family							101.0	105.0	104.0					1																	156038168		2156	4271	6427	SO:0001583	missense	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038168C>T	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.347C>T	1.37:g.156038168C>T	ENSP00000354376:p.Ala116Val					RAB25_ENST00000487325.1_3'UTR	p.A116V	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			3	588	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		116					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	37	c.347C>T	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955857	0.73902	.	.	ENSG00000132698	ENST00000361084	T	0.77358	-1.09	5.23	3.29	0.37713	Small GTP-binding protein domain (1);	0.056378	0.64402	D	0.000001	T	0.48732	0.1516	N	0.13098	0.295	0.35955	D	0.834169	P	0.48016	0.904	B	0.39660	0.306	T	0.57906	-0.7730	10	0.66056	D	0.02	.	14.3217	0.66491	0.0:0.7167:0.2833:0.0	.	116	P57735	RAB25_HUMAN	V	116	ENSP00000354376:A116V	ENSP00000354376:A116V	A	+	2	0	RAB25	154304792	1.000000	0.71417	0.970000	0.41538	0.897000	0.52465	1.610000	0.36869	0.727000	0.32360	0.655000	0.94253	GCC		0.597	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			18	102	0	0	0	1	0	18	102				
ZNF598	90850	broad.mit.edu	37	16	2049711	2049711	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2049711C>T	ENST00000563630.1	-	9	1916	c.1674G>A	c.(1672-1674)ggG>ggA	p.G558G	ZNF598_ENST00000562103.1_Silent_p.G558G|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.G613G			Q86UK7	ZN598_HUMAN	zinc finger protein 598	613							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCTGCAAAGCCCCTGGGGGAC	0.652																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1672-1674)ggG>ggA		zinc finger protein 598																																				SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2049711C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1674G>A	16.37:g.2049711C>T						ZNF598_ENST00000431526.1_Silent_p.G613G|ZNF598_ENST00000562103.1_Silent_p.G558G	p.G558G			Q86UK7	ZN598_HUMAN			9	1916	-			613					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.1674G>A																																																																																					0.652	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		14	20	0	0	0	1	0	14	20				
IGFLR1	79713	broad.mit.edu	37	19	36230730	36230730	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36230730C>T	ENST00000592537.1	-	4	702	c.602G>A	c.(601-603)gGc>gAc	p.G201D	IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000344990.3_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000246532.1_Missense_Mutation_p.G201D			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GCAGACCAAGCCAGGATAGGG	0.607																																						ENST00000592537.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						c.(601-603)gGc>gAc		IGF-like family receptor 1							93.0	99.0	97.0					19																	36230730		2203	4300	6503	SO:0001583	missense	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230730C>T	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.602G>A	19.37:g.36230730C>T	ENSP00000466181:p.Gly201Asp					IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000592889.1_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.G201D|IGFLR1_ENST00000588992.1_Intron	p.G201D			Q9H665	IGFR1_HUMAN			4	702	-			201					Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	c.602G>A	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382882	0.61845	.	.	ENSG00000126246	ENST00000246532	D	0.92099	-2.97	5.08	-0.142	0.13448	.	0.803616	0.11543	N	0.553530	D	0.85243	0.5652	N	0.19112	0.55	0.09310	N	0.999996	P	0.40909	0.732	B	0.41988	0.372	T	0.72371	-0.4314	10	0.12766	T	0.61	-5.5888	14.3458	0.66662	0.0:0.3865:0.6135:0.0	.	201	Q9H665	IGFR1_HUMAN	D	201	ENSP00000246532:G201D	ENSP00000246532:G201D	G	-	2	0	IGFLR1	40922570	0.002000	0.14202	0.001000	0.08648	0.022000	0.10575	0.841000	0.27613	0.217000	0.20800	0.462000	0.41574	GGC		0.607	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		8	88	0	0	0	1	0	8	88				
SLC17A8	246213	broad.mit.edu	37	12	100796523	100796523	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:100796523G>A	ENST00000323346.5	+	8	1366	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Intron	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	351					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAATAAGTAAGGTAAACACAC	0.313																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.e8+1		solute carrier family 17 (vesicular glutamate transporter), member 8							71.0	64.0	67.0					12																	100796523		2202	4300	6502	SO:0001630	splice_region_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100796523G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1053+1G>A	12.37:g.100796523G>A						SLC17A8_ENST00000392989.3_Intron	p.K351_splice	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			8	1366	+			351					B3KXZ6|B7ZKV4|Q17RQ8	Splice_Site	SNP	ENST00000323346.5	37	c.1053_splice	CCDS9077.1																																																																																				0.313	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	Silent	14	36	0	0	0	1	0	14	36				
SGTB	54557	broad.mit.edu	37	5	65016561	65016561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:65016561G>A	ENST00000381007.4	-	2	309	c.74C>T	c.(73-75)aCc>aTc	p.T25I	NLN_ENST00000502464.1_5'Flank|NLN_ENST00000380985.5_5'Flank	NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	25										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTCATCCGAGGTGTAAGTGTC	0.358																																						ENST00000381007.4																			0				large_intestine(3)|lung(3)|skin(3)	9						c.(73-75)aCc>aTc		small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta							115.0	115.0	115.0					5																	65016561		2203	4300	6503	SO:0001583	missense	54557						binding	g.chr5:65016561G>A	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.74C>T	5.37:g.65016561G>A	ENSP00000370395:p.Thr25Ile						p.T25I	NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)	2	309	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)	25						Missense_Mutation	SNP	ENST00000381007.4	37	c.74C>T	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736856	0.30774	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.62232	0.04;0.08	5.36	3.47	0.39725	.	0.262544	0.42682	D	0.000680	T	0.57021	0.2025	L	0.47190	1.495	0.49798	D	0.999829	P	0.40050	0.7	B	0.42062	0.374	T	0.57631	-0.7778	10	0.72032	D	0.01	-5.9924	10.8581	0.46810	0.0:0.1422:0.7101:0.1477	.	25	Q96EQ0	SGTB_HUMAN	I	25	ENSP00000370395:T25I;ENSP00000421447:T25I	ENSP00000370395:T25I	T	-	2	0	SGTB	65052317	1.000000	0.71417	0.998000	0.56505	0.195000	0.23768	3.423000	0.52756	0.547000	0.28938	0.557000	0.71058	ACC		0.358	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072		3	39	0	0	0	1	0	3	39				
ZAN	7455	broad.mit.edu	37	7	100350802	100350802	+	RNA	SNP	C	C	T	rs559901625		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100350802C>T	ENST00000348028.3	+	0	3239				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_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)				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)			CCAAGTACCCCTATGACCAGT	0.572													c|||	1	0.000199681	0.0	0.0	5008	,	,		18725	0.001		0.0	False		,,,				2504	0.0					ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							92.0	100.0	98.0					7																	100350802		1990	4151	6141			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350802C>T	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.100350802C>T						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3222	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	11.08	1.534450	0.27475	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.74632	-0.86;-0.86;-0.86	3.6	1.75	0.24633	.	.	.	.	.	T	0.54208	0.1844	N	0.19112	0.55	0.20764	N	0.999859	P;B	0.42518	0.782;0.035	B;B	0.34779	0.189;0.007	T	0.40757	-0.9546	9	0.48119	T	0.1	.	8.0469	0.30555	0.0:0.7824:0.0:0.2176	.	1025;1025	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1025	ENSP00000445943:P1025L;ENSP00000445091:P1025L;ENSP00000444427:P1025L	ENSP00000423579:P1025L	P	+	2	0	ZAN	100188738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.099000	0.15210	0.313000	0.23062	-0.157000	0.13467	CCT		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	168	0	0	0	1	0	10	168				
RASA2	5922	broad.mit.edu	37	3	141327521	141327521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:141327521G>A	ENST00000452898.1	+	21	2245	c.2210G>A	c.(2209-2211)gGc>gAc	p.G737D	RASA2_ENST00000286364.3_Missense_Mutation_p.G736D|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	737					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AACACTCTCGGCTGCAAGCCA	0.398																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(2206-2208)gGc>gAc		RAS p21 protein activator 2							92.0	94.0	93.0					3																	141327521		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141327521G>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2210G>A	3.37:g.141327521G>A	ENSP00000391677:p.Gly737Asp					RASA2_ENST00000452898.1_Missense_Mutation_p.G737D|RASA2_ENST00000509118.1_3'UTR	p.G736D			Q15283	RASA2_HUMAN			21	2242	+			736					A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.2207G>A		.	.	.	.	.	.	.	.	.	.	G	29.2	4.985288	0.93044	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	D;D	0.99947	-8.64;-8.64	5.54	5.54	0.83059	Pleckstrin homology-type (1);Zinc finger, Btk motif (4);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.96199	0.9144	10	0.87932	D	0	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	737;737;736	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	D	736;737	ENSP00000286364:G736D;ENSP00000391677:G737D	ENSP00000286364:G736D	G	+	2	0	RASA2	142810211	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.263000	0.95617	2.880000	0.98712	0.650000	0.86243	GGC		0.398	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		5	26	0	0	0	1	0	5	26				
JMJD1C	221037	broad.mit.edu	37	10	64977088	64977088	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:64977088G>A	ENST00000399262.2	-	5	775	c.557C>T	c.(556-558)cCt>cTt	p.P186L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.P4L|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000402544.1_5'UTR|JMJD1C_ENST00000489372.2_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	186					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAAGGAATAAGGACCTTAAAA	0.358																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(556-558)cCt>cTt		jumonji domain containing 1C							72.0	71.0	71.0					10																	64977088		1838	4091	5929	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64977088G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.557C>T	10.37:g.64977088G>A	ENSP00000382204:p.Pro186Leu					JMJD1C_ENST00000402544.1_5'UTR|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P4L|JMJD1C_ENST00000489372.2_5'UTR	p.P186L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			5	775	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		186					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.557C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832128	0.71258	.	.	ENSG00000171988	ENST00000399262;ENST00000542921	T;T	0.53857	0.76;0.6	5.74	5.74	0.90152	.	0.082273	0.48767	U	0.000168	T	0.66346	0.2780	L	0.55990	1.75	0.80722	D	1	D	0.65815	0.995	P	0.57425	0.82	T	0.67086	-0.5759	10	0.66056	D	0.02	-10.9478	19.915	0.97057	0.0:0.0:1.0:0.0	.	186	Q15652	JHD2C_HUMAN	L	186;4	ENSP00000382204:P186L;ENSP00000444682:P4L	ENSP00000382204:P186L	P	-	2	0	JMJD1C	64647094	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	7.532000	0.81985	2.707000	0.92482	0.557000	0.71058	CCT		0.358	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		22	40	0	0	0	1	0	22	40				
DHX29	54505	broad.mit.edu	37	5	54563554	54563554	+	Missense_Mutation	SNP	C	C	T	rs566797481		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:54563554C>T	ENST00000251636.5	-	22	3539	c.3391G>A	c.(3391-3393)Gcg>Acg	p.A1131T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1131						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCTGAATCCGCCATGGCCAAA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		10272	0.0		0.0	False		,,,				2504	0.001					ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(3391-3393)Gcg>Acg		DEAH (Asp-Glu-Ala-His) box polypeptide 29							141.0	119.0	126.0					5																	54563554		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54563554C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3391G>A	5.37:g.54563554C>T	ENSP00000251636:p.Ala1131Thr					RP11-506H20.1_ENST00000506435.1_RNA	p.A1131T	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			22	3539	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1131					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.3391G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354684	0.82243	.	.	ENSG00000067248	ENST00000251636	T	0.02552	4.25	5.68	5.68	0.88126	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	L	0.37800	1.135	0.58432	D	0.999999	P	0.51147	0.942	P	0.53401	0.725	T	0.41305	-0.9516	10	0.35671	T	0.21	.	19.7958	0.96481	0.0:1.0:0.0:0.0	.	1131	Q7Z478	DHX29_HUMAN	T	1131	ENSP00000251636:A1131T	ENSP00000251636:A1131T	A	-	1	0	DHX29	54599311	1.000000	0.71417	0.899000	0.35326	0.947000	0.59692	5.734000	0.68580	2.695000	0.91970	0.650000	0.86243	GCG		0.403	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		16	58	0	0	0	1	0	16	58				
RNF128	79589	broad.mit.edu	37	X	106016142	106016142	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:106016142G>A	ENST00000255499.2	+	2	734		c.e2-1		RNF128_ENST00000324342.3_Splice_Site	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase						negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTATTTTACAGGTGCAGTAGA	0.333																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.e2-1		ring finger protein 128, E3 ubiquitin protein ligase							89.0	76.0	80.0					X																	106016142		2203	4300	6503	SO:0001630	splice_region_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016142G>A	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.485-1G>A	X.37:g.106016142G>A						RNF128_ENST00000324342.3_Splice_Site		NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			2	734	+								A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Splice_Site	SNP	ENST00000255499.2	37		CCDS14521.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174741	0.57692	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6943	0.88277	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF128	105902798	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	7.544000	0.82117	2.501000	0.84356	0.513000	0.50165	.		0.333	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539	Intron	21	47	0	0	0	1	0	21	47				
CFAP61	26074	broad.mit.edu	37	20	20051598	20051598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:20051598G>A	ENST00000245957.5	+	3	320	c.244G>A	c.(244-246)Gat>Aat	p.D82N	C20orf26_ENST00000377309.2_De_novo_Start_OutOfFrame|C20orf26_ENST00000377306.1_Missense_Mutation_p.D82N|C20orf26_ENST00000389656.3_De_novo_Start_OutOfFrame|C20orf26_ENST00000451767.2_Missense_Mutation_p.D82N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		82										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)		TGCCAAGCAGGATGACTGGGT	0.517																																						ENST00000377309.2																			0				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								chromosome 20 open reading frame 26							108.0	92.0	97.0					20																	20051598		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20051598G>A																												ENST00000245957.5:c.244G>A	20.37:g.20051598G>A	ENSP00000245957:p.Asp82Asn					C20orf26_ENST00000451767.2_Missense_Mutation_p.D82N|C20orf26_ENST00000377306.1_Missense_Mutation_p.D82N|C20orf26_ENST00000389656.3_De_novo_Start_OutOfFrame|C20orf26_ENST00000245957.5_Missense_Mutation_p.D82N				Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	0	358	+								A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Translation_Start_Site	SNP	ENST00000245957.5	37		CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908637	0.52439	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.72	3.77	0.43336	.	0.348224	0.28566	N	0.014894	T	0.46151	0.1378	L	0.47716	1.5	0.80722	D	1	D;P;P;B	0.63046	0.992;0.682;0.9;0.084	P;B;P;B	0.59357	0.856;0.158;0.549;0.025	T	0.33266	-0.9875	10	0.15499	T	0.54	.	8.153	0.31152	0.0837:0.1577:0.7586:0.0	.	82;82;36;82	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	N	36;82;82;82;82;82;82;82	ENSP00000345553:D36N;ENSP00000245957:D82N;ENSP00000366521:D82N;ENSP00000366518:D82N;ENSP00000417086:D82N;ENSP00000414537:D82N	ENSP00000245957:D82N	D	+	1	0	C20orf26	19999598	1.000000	0.71417	0.186000	0.23195	0.458000	0.32498	2.573000	0.46007	0.778000	0.33520	0.655000	0.94253	GAT		0.517	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			5	71	0	0	0	1	0	5	71				
TUBA4A	7277	broad.mit.edu	37	2	220116834	220116834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220116834G>A	ENST00000248437.4	-	2	295	c.122C>T	c.(121-123)aCc>aTc	p.T41I	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_Intron|TUBA4A_ENST00000392088.2_Missense_Mutation_p.T26I	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	41					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|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)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TCCACCAATGGTCTTGTCACT	0.567																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(76-78)aCc>aTc		tubulin, alpha 4a							90.0	78.0	82.0					2																	220116834		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116834G>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.122C>T	2.37:g.220116834G>A	ENSP00000248437:p.Thr41Ile					TUBA4A_ENST00000248437.4_Missense_Mutation_p.T41I|TUBA4A_ENST00000498660.1_Intron	p.T26I	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	632	-		Renal(207;0.0474)	41					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.77C>T	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845443	0.32606	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	4.31	4.31	0.51392	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	L	0.58354	1.805	0.47819	D	0.999529	B	0.06786	0.001	B	0.13407	0.009	T	0.67098	-0.5756	10	0.87932	D	0	.	10.9252	0.47187	0.0865:0.0:0.9135:0.0	.	41	P68366	TBA4A_HUMAN	I	41;26;26;64;26;43	ENSP00000248437:T41I;ENSP00000375938:T26I;ENSP00000408194:T26I;ENSP00000416992:T64I;ENSP00000396061:T26I;ENSP00000404740:T43I	ENSP00000248437:T41I	T	-	2	0	TUBA4A	219825078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.855000	0.86950	2.396000	0.81511	0.561000	0.74099	ACC		0.567	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		7	42	0	0	0	1	0	7	42				
GLIS2	84662	broad.mit.edu	37	16	4384872	4384872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:4384872G>A	ENST00000262366.3	+	5	1237	c.416G>A	c.(415-417)gGg>gAg	p.G139E	GLIS2_ENST00000433375.1_Missense_Mutation_p.G139E|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	139	Interaction with CTNND1. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTCGGCTCCGGGGGGGCCCTG	0.657																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(415-417)gGg>gAg		GLIS family zinc finger 2							45.0	55.0	52.0					16																	4384872		2197	4299	6496	SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4384872G>A	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.416G>A	16.37:g.4384872G>A	ENSP00000262366:p.Gly139Glu					GLIS2_ENST00000433375.1_Missense_Mutation_p.G139E|PAM16_ENST00000577031.1_Intron	p.G139E			Q9BZE0	GLIS2_HUMAN			5	1237	+			139			Interaction with CTNND1 (By similarity).		B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	c.416G>A	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677271	0.47886	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.11495	2.77;2.77	5.15	5.15	0.70609	.	0.254348	0.37393	N	0.002101	T	0.07458	0.0188	N	0.21448	0.665	0.80722	D	1	B	0.26744	0.158	B	0.20767	0.031	T	0.07712	-1.0758	10	0.02654	T	1	.	17.7777	0.88514	0.0:0.0:1.0:0.0	.	139	Q9BZE0	GLIS2_HUMAN	E	139	ENSP00000262366:G139E;ENSP00000395547:G139E	ENSP00000262366:G139E	G	+	2	0	GLIS2	4324873	1.000000	0.71417	0.329000	0.25429	0.221000	0.24807	8.998000	0.93550	2.572000	0.86782	0.491000	0.48974	GGG		0.657	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		6	45	0	0	0	1	0	6	45				
ROCK2	9475	broad.mit.edu	37	2	11355156	11355156	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:11355156C>T	ENST00000315872.6	-	16	2194	c.1746G>A	c.(1744-1746)agG>agA	p.R582R	ROCK2_ENST00000401753.1_Silent_p.R339R	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	582	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CCTGGGTTTTCCTTAACCGGG	0.408																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(1744-1746)agG>agA		Rho-associated, coiled-coil containing protein kinase 2							95.0	84.0	88.0					2																	11355156		1837	4097	5934	SO:0001819	synonymous_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11355156C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1746G>A	2.37:g.11355156C>T						ROCK2_ENST00000401753.1_Silent_p.R339R	p.R582R	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	16	2194	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		582			Interaction with PPP1R12A.		Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	c.1746G>A	CCDS42654.1																																																																																				0.408	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			41	62	0	0	0	1	0	41	62				
MLST8	64223	broad.mit.edu	37	16	2258287	2258287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2258287C>T	ENST00000569417.1	+	7	1004	c.650C>T	c.(649-651)cCt>cTt	p.P217L	MLST8_ENST00000564088.1_Missense_Mutation_p.P217L|MLST8_ENST00000301724.10_Missense_Mutation_p.P217L|MLST8_ENST00000382450.4_Missense_Mutation_p.P216L|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000565250.1_Missense_Mutation_p.P217L|MLST8_ENST00000397124.1_Missense_Mutation_p.P217L	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	217					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						ACTAAGATCCCTGCCCACACG	0.657																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(649-651)cCt>cTt		MTOR associated protein, LST8 homolog (S. cerevisiae)							115.0	127.0	123.0					16																	2258287		2114	4218	6332	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258287C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.650C>T	16.37:g.2258287C>T	ENSP00000456405:p.Pro217Leu					MLST8_ENST00000564088.1_Missense_Mutation_p.P217L|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000397124.1_Missense_Mutation_p.P217L|MLST8_ENST00000565250.1_Missense_Mutation_p.P217L|MLST8_ENST00000382450.4_Missense_Mutation_p.P216L|MLST8_ENST00000301724.10_Missense_Mutation_p.P217L	p.P217L	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			7	1004	+			217					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.650C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582137	0.46006	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124	T;T	0.59772	0.24;0.98	4.4	4.4	0.53042	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	0.41834	0.1176	N	0.17474	0.49	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.24476	-1.0159	10	0.28530	T	0.3	-14.1506	15.554	0.76177	0.0:1.0:0.0:0.0	.	151;217	Q9BVC4-3;Q9BVC4	.;LST8_HUMAN	L	217	ENSP00000301724:P217L;ENSP00000380313:P217L	ENSP00000301724:P217L	P	+	2	0	MLST8	2198288	1.000000	0.71417	0.901000	0.35422	0.615000	0.37417	5.956000	0.70315	2.002000	0.58637	0.313000	0.20887	CCT		0.657	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		8	133	0	0	0	1	0	8	133				
ZNF862	643641	broad.mit.edu	37	7	149558705	149558705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149558705G>A	ENST00000223210.4	+	7	2701	c.2456G>A	c.(2455-2457)gGc>gAc	p.G819D	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	819					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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GAGGCTGGGGGCCAGATTGGG	0.662																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(2455-2457)gGc>gAc		zinc finger protein 862							10.0	11.0	11.0					7																	149558705		1978	4146	6124	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558705G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2456G>A	7.37:g.149558705G>A	ENSP00000223210:p.Gly819Asp						p.G819D	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	2701	+			819					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2456G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965457	0.53507	.	.	ENSG00000106479	ENST00000223210	T	0.01139	5.28	5.18	4.29	0.51040	.	0.000000	0.53938	D	0.000048	T	0.02156	0.0067	L	0.29908	0.895	0.32177	N	0.580906	D	0.64830	0.994	P	0.55713	0.782	T	0.52646	-0.8548	10	0.33940	T	0.23	-7.6999	11.32	0.49417	0.0:0.0:0.8192:0.1808	.	819	O60290	ZN862_HUMAN	D	819	ENSP00000223210:G819D	ENSP00000223210:G819D	G	+	2	0	ZNF862	149189638	1.000000	0.71417	0.873000	0.34254	0.837000	0.47467	2.797000	0.47877	1.165000	0.42670	0.585000	0.79938	GGC		0.662	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		7	18	0	0	0	1	0	7	18				
FZD10	11211	broad.mit.edu	37	12	130647935	130647935	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:130647935G>A	ENST00000229030.4	+	1	932	c.448G>A	c.(448-450)Gcg>Acg	p.A150T	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.G117D			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	150	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GTGCATGGAGGCGCCCAACAA	0.667																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(349-351)gGc>gAc		frizzled family receptor 10							59.0	62.0	61.0					12																	130647935		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647935G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.448G>A	12.37:g.130647935G>A	ENSP00000229030:p.Ala150Thr					FZD10_ENST00000229030.4_Missense_Mutation_p.A150T	p.G117D	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	932	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0			FZ.			Missense_Mutation	SNP	ENST00000229030.4	37	c.350G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.667484|2.667484	0.47677|0.47677	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.79653|.	-1.29|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Frizzled domain (4);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.75627|0.75627	0.3875|0.3875	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.65233|.	0.933|.	T|T	0.78937|0.78937	-0.2007|-0.2007	10|6	0.24483|0.87932	T|D	0.36|0	.|.	18.3422|18.3422	0.90309|0.90309	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	150|.	Q9ULW2|.	FZD10_HUMAN|.	T|D	150|117	ENSP00000229030:A150T|.	ENSP00000229030:A150T|ENSP00000438460:G117D	A|G	+|+	1|2	0|0	FZD10|FZD10	129213888|129213888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.017000|9.017000	0.93651|0.93651	2.318000|2.318000	0.78349|0.78349	0.561000|0.561000	0.74099|0.74099	GCG|GGC		0.667	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	151	0	0	0	1	0	18	151				
ZNF776	284309	broad.mit.edu	37	19	58265332	58265332	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58265332C>T	ENST00000317178.5	+	3	1097	c.834C>T	c.(832-834)caC>caT	p.H278H		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATAAGGCCCACCTCACTGAAC	0.398																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(832-834)caC>caT		zinc finger protein 776							91.0	82.0	85.0					19																	58265332		2203	4300	6503	SO:0001819	synonymous_variant	284309							g.chr19:58265332C>T	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.834C>T	19.37:g.58265332C>T							p.H278H	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1097	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	c.834C>T	CCDS12962.2																																																																																				0.398	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		5	105	0	0	0	1	0	5	105				
TTC38	55020	broad.mit.edu	37	22	46669871	46669871	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46669871C>T	ENST00000381031.3	+	4	346	c.270C>T	c.(268-270)gaC>gaT	p.D90D	TTC38_ENST00000445282.2_Silent_p.D90D	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	90						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AAGAGCTGGACCTGGCTGTGA	0.567																																						ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(268-270)gaC>gaT		tetratricopeptide repeat domain 38							59.0	65.0	63.0					22																	46669871		2085	4233	6318	SO:0001819	synonymous_variant	55020						binding	g.chr22:46669871C>T		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.270C>T	22.37:g.46669871C>T						TTC38_ENST00000445282.2_Silent_p.D90D	p.D90D	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN			4	346	+			90					Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	c.270C>T	CCDS43030.1																																																																																				0.567	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		22	26	0	0	0	1	0	22	26				
FAM155B	27112	broad.mit.edu	37	X	68748945	68748945	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:68748945C>T	ENST00000252338.4	+	2	1013	c.971C>T	c.(970-972)cCc>cTc	p.P324L		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	324						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						ACCCGGTGCCCCTTTATACTC	0.597																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(970-972)cCc>cTc		family with sequence similarity 155, member B							49.0	42.0	44.0					X																	68748945		2203	4300	6503	SO:0001583	missense	27112					integral to membrane		g.chrX:68748945C>T	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.971C>T	X.37:g.68748945C>T	ENSP00000252338:p.Pro324Leu						p.P324L	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			2	1013	+			324					B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	c.971C>T	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183385	0.78677	.	.	ENSG00000130054	ENST00000252338	T	0.12465	2.68	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000004	T	0.36552	0.0971	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10941	-1.0608	10	0.87932	D	0	-9.5046	15.3151	0.74069	0.0:1.0:0.0:0.0	.	324	O75949-2	.	L	324	ENSP00000252338:P324L	ENSP00000252338:P324L	P	+	2	0	FAM155B	68665670	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.403000	0.79983	2.207000	0.71202	0.523000	0.50628	CCC		0.597	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		7	17	0	0	0	1	0	7	17				
ALG13	79868	broad.mit.edu	37	X	110961101	110961101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:110961101C>T	ENST00000394780.3	+	9	1045	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	ALG13_ENST00000251943.4_Missense_Mutation_p.H241Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	345	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AAGTAGTGGTCACTATGATTC	0.338																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(1033-1035)Cac>Tac		ALG13, UDP-N-acetylglucosaminyltransferase subunit							181.0	133.0	148.0					X																	110961101		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110961101C>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1033C>T	X.37:g.110961101C>T	ENSP00000378260:p.His345Tyr					ALG13_ENST00000251943.4_Missense_Mutation_p.H241Y	p.H345Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			9	1045	+			345			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.1033C>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131812	0.77662	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283;ENST00000436609	D;D;D	0.93426	-3.22;-3.22;-3.22	5.58	5.58	0.84498	Ovarian tumour, otubain (2);	0.000000	0.64402	U	0.000014	D	0.97885	0.9305	H	0.95294	3.65	0.49051	D	0.999747	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.99075	1.0835	10	0.87932	D	0	-13.1243	18.6141	0.91296	0.0:1.0:0.0:0.0	.	267;345;241	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	Y	241;345;241;36	ENSP00000251943:H241Y;ENSP00000378260:H345Y;ENSP00000427093:H241Y	ENSP00000251943:H241Y	H	+	1	0	ALG13	110847757	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	6.510000	0.73729	2.338000	0.79540	0.513000	0.50165	CAC		0.338	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		6	16	0	0	0	1	0	6	16				
SLC39A12	221074	broad.mit.edu	37	10	18289609	18289609	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:18289609C>T	ENST00000377369.2	+	11	1887	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377374.4_Silent_p.S501S|SLC39A12_ENST00000377371.3_Silent_p.S537S|SLC39A12_ENST00000539911.1_Silent_p.S404S|SLC39A12-AS1_ENST00000445287.1_RNA	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	538					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGCCATTAGCTTGTTAGCAA	0.438																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1612-1614)agC>agT		solute carrier family 39 (zinc transporter), member 12							177.0	159.0	165.0					10																	18289609		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18289609C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1614C>T	10.37:g.18289609C>T						SLC39A12_ENST00000377374.4_Silent_p.S501S|SLC39A12_ENST00000539911.1_Silent_p.S404S|SLC39A12_ENST00000377371.3_Silent_p.S537S	p.S538S	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			11	1887	+			538					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.1614C>T	CCDS44362.1																																																																																				0.438	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		10	205	0	0	0	1	0	10	205				
CHD5	26038	broad.mit.edu	37	1	6172279	6172279	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:6172279C>T	ENST00000262450.3	-	35	5160	c.5061G>A	c.(5059-5061)gaG>gaA	p.E1687E	CHD5_ENST00000378021.1_Silent_p.E544E	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)				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)		CGTCATCTTCCTCTTTGTCAC	0.512																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5059-5061)gaG>gaA		chromodomain helicase DNA binding protein 5							269.0	217.0	235.0					1																	6172279		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6172279C>T	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.5061G>A	1.37:g.6172279C>T						CHD5_ENST00000378021.1_Silent_p.E544E	p.E1687E	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		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)	35	5160	-	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)	1687					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.5061G>A	CCDS57.1																																																																																				0.512	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		32	25	0	0	0	1	0	32	25				
UBR4	23352	broad.mit.edu	37	1	19499781	19499781	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19499781C>T	ENST00000375254.3	-	24	3212	c.3185G>A	c.(3184-3186)gGa>gAa	p.G1062E	UBR4_ENST00000375217.2_Missense_Mutation_p.G1062E|UBR4_ENST00000375267.2_Missense_Mutation_p.G1062E|UBR4_ENST00000375226.2_Missense_Mutation_p.G1062E	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1062					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)			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)		AGCCTTCATTCCCTGTTTGAT	0.393																																						ENST00000375267.2																			0				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						c.(3184-3186)gGa>gAa		ubiquitin protein ligase E3 component n-recognin 4							117.0	110.0	112.0					1																	19499781		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19499781C>T	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.3185G>A	1.37:g.19499781C>T	ENSP00000364403:p.Gly1062Glu					UBR4_ENST00000375254.3_Missense_Mutation_p.G1062E|UBR4_ENST00000375226.2_Missense_Mutation_p.G1062E|UBR4_ENST00000375217.2_Missense_Mutation_p.G1062E	p.G1062E			Q5T4S7	UBR4_HUMAN		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)	24	3188	-		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)	1062					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3185G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829864	0.91036	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68992	-0.5263	10	0.72032	D	0.01	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	1062	Q5T4S7	UBR4_HUMAN	E	1062;1062;1062;1062;278	ENSP00000364403:G1062E;ENSP00000364416:G1062E;ENSP00000364365:G1062E;ENSP00000364374:G1062E	ENSP00000364365:G1062E	G	-	2	0	UBR4	19372368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	GGA		0.393	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	85	0	0	0	1	0	5	85				
MUTYH	4595	broad.mit.edu	37	1	45799216	45799216	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:45799216C>T	ENST00000372098.3	-	3	341	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.E45K|MUTYH_ENST00000450313.1_Missense_Mutation_p.E73K|MUTYH_ENST00000528013.2_Missense_Mutation_p.E59K|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000448481.1_Missense_Mutation_p.E56K|MUTYH_ENST00000355498.2_Missense_Mutation_p.E45K|MUTYH_ENST00000372100.5_Missense_Mutation_p.E56K|MUTYH_ENST00000372110.3_Missense_Mutation_p.E60K|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.E46K|MUTYH_ENST00000372115.3_Missense_Mutation_p.E59K|MUTYH_ENST00000372104.1_Missense_Mutation_p.E45K			Q9UIF7	MUTYH_HUMAN	mutY homolog	70					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)			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)					ACCACCTCTTCCGGCTGCCTG	0.592			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(217-219)Gaa>Aaa	Base excision repair (BER), DNA glycosylases	mutY homolog							45.0	44.0	45.0					1																	45799216		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45799216C>T	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.208G>A	1.37:g.45799216C>T	ENSP00000361170:p.Glu70Lys					MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372098.3_Missense_Mutation_p.E70K|MUTYH_ENST00000372104.1_Missense_Mutation_p.E45K|MUTYH_ENST00000354383.6_Missense_Mutation_p.E46K|MUTYH_ENST00000456914.2_Missense_Mutation_p.E45K|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000448481.1_Missense_Mutation_p.E56K|MUTYH_ENST00000372115.3_Missense_Mutation_p.E59K|MUTYH_ENST00000372110.3_Missense_Mutation_p.E60K|MUTYH_ENST00000355498.2_Missense_Mutation_p.E45K|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.E56K	p.E73K	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			3	432	-	Acute lymphoblastic leukemia(166;0.155)		70					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.217G>A	CCDS520.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235853	0.39498	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000435155;ENST00000528013;ENST00000483127	T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	3.27;3.27;3.27;3.28;3.27;3.26;3.27;3.26;3.26;3.27;1.97;0.96;0.92	5.46	1.0	0.19881	.	0.372474	0.23962	N	0.042860	T	0.29256	0.0728	L	0.54323	1.7	0.09310	N	1	P;B;B;B;B	0.36086	0.536;0.066;0.04;0.083;0.046	B;B;B;B;B	0.30316	0.114;0.013;0.022;0.012;0.008	T	0.14200	-1.0481	10	0.22109	T	0.4	-1.4845	7.6671	0.28437	0.0:0.6033:0.0:0.3967	.	73;60;70;59;46	E5KP25;Q9UIF7-2;Q9UIF7;E5KP27;E5KP28	.;.;MUTYH_HUMAN;.;.	K	45;56;45;46;45;70;60;59;73;56;56;59;51	ENSP00000361176:E45K;ENSP00000409718:E56K;ENSP00000407590:E45K;ENSP00000346354:E46K;ENSP00000347685:E45K;ENSP00000361170:E70K;ENSP00000361182:E60K;ENSP00000361187:E59K;ENSP00000408176:E73K;ENSP00000361172:E56K;ENSP00000403655:E56K;ENSP00000433130:E59K;ENSP00000436469:E51K	ENSP00000346354:E46K	E	-	1	0	MUTYH	45571803	0.000000	0.05858	0.001000	0.08648	0.767000	0.43475	-0.799000	0.04560	-0.018000	0.14079	0.655000	0.94253	GAA		0.592	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		18	27	0	0	0	1	0	18	27				
NR1H4	9971	broad.mit.edu	37	12	100934575	100934575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:100934575G>A	ENST00000551379.1	+	7	1115	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	NR1H4_ENST00000548884.1_Missense_Mutation_p.E349K|NR1H4_ENST00000392986.3_Missense_Mutation_p.E353K|NR1H4_ENST00000188403.7_Missense_Mutation_p.E359K|NR1H4_ENST00000549996.1_Missense_Mutation_p.E302K			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	363	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TGACCTATTGGAAGAAAGAAT	0.428																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(1045-1047)Gaa>Aaa		nuclear receptor subfamily 1, group H, member 4							120.0	117.0	118.0					12																	100934575		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100934575G>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1087G>A	12.37:g.100934575G>A	ENSP00000447149:p.Glu363Lys					NR1H4_ENST00000549996.1_Missense_Mutation_p.E302K|NR1H4_ENST00000188403.7_Missense_Mutation_p.E359K|NR1H4_ENST00000551379.1_Missense_Mutation_p.E363K|NR1H4_ENST00000392986.3_Missense_Mutation_p.E353K	p.E349K	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			9	1586	+			363			Agonist binding (By similarity).|Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.1045G>A	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069978	0.55539	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.05	5.05	0.67936	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.93478	0.7919	L	0.33339	1.005	0.80722	D	1	B;B;B;B;B	0.15930	0.015;0.003;0.007;0.009;0.0	B;B;B;B;B	0.17722	0.017;0.01;0.012;0.019;0.001	D	0.90064	0.4158	10	0.33940	T	0.23	.	18.4244	0.90604	0.0:0.0:1.0:0.0	.	302;363;359;353;349	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	K	349;353;302;363;359	ENSP00000448506:E349K;ENSP00000376712:E353K;ENSP00000448978:E302K;ENSP00000447149:E363K;ENSP00000188403:E359K	ENSP00000188403:E359K	E	+	1	0	NR1H4	99458706	1.000000	0.71417	0.964000	0.40570	0.590000	0.36582	7.611000	0.82962	2.344000	0.79699	0.585000	0.79938	GAA		0.428	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		29	64	0	0	0	1	0	29	64				
CELSR3	1951	broad.mit.edu	37	3	48680407	48680407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48680407G>A	ENST00000164024.4	-	29	8679	c.8399C>T	c.(8398-8400)cCt>cTt	p.P2800L	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.P2805L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2800					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCAGCCCAGGTGCTGGCCT	0.632																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(8413-8415)cCt>cTt		cadherin, EGF LAG seven-pass G-type receptor 3							47.0	52.0	50.0					3																	48680407		2203	4296	6499	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48680407G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8399C>T	3.37:g.48680407G>A	ENSP00000164024:p.Pro2800Leu					CELSR3_ENST00000164024.4_Missense_Mutation_p.P2800L	p.P2805L			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	30	8694	-			2800					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8414C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941619	0.34283	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69806	-0.43;-0.42	5.67	4.74	0.60224	.	.	.	.	.	T	0.49864	0.1582	L	0.36672	1.1	0.19300	N	0.99997	P;P;B	0.43352	0.804;0.704;0.146	B;B;B	0.36464	0.225;0.113;0.057	T	0.49184	-0.8966	9	0.46703	T	0.11	.	3.8257	0.08853	0.0804:0.141:0.5108:0.2678	.	2805;2800;2898	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	L	2800;2805	ENSP00000164024:P2800L;ENSP00000445694:P2805L	ENSP00000164024:P2800L	P	-	2	0	CELSR3	48655411	0.088000	0.21588	0.829000	0.32907	0.665000	0.39181	0.511000	0.22739	2.686000	0.91538	0.561000	0.74099	CCT		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		26	79	0	0	0	1	0	26	79				
NIPAL4	348938	broad.mit.edu	37	5	156894063	156894063	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:156894063G>A	ENST00000311946.7	+	3	586	c.470G>A	c.(469-471)gGa>gAa	p.G157E	NIPAL4_ENST00000435489.2_Intron|NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	157						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						ACAGTGGATGGAGGCTTCGGC	0.498																																						ENST00000311946.7																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(469-471)gGa>gAa		NIPA-like domain containing 4							151.0	163.0	159.0					5																	156894063		1959	4146	6105	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156894063G>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.470G>A	5.37:g.156894063G>A	ENSP00000311687:p.Gly157Glu					NIPAL4_ENST00000435489.2_Intron|NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron	p.G157E	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			3	586	+			157					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.470G>A	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923397	0.33908	.	.	ENSG00000172548	ENST00000311946	D	0.90788	-2.73	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.94522	0.8236	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94681	0.7865	10	0.51188	T	0.08	-4.4969	17.2333	0.86991	0.0:0.0:1.0:0.0	.	157	Q0D2K0	NIPA4_HUMAN	E	157	ENSP00000311687:G157E	ENSP00000311687:G157E	G	+	2	0	NIPAL4	156826641	1.000000	0.71417	0.952000	0.39060	0.185000	0.23345	9.752000	0.98900	2.063000	0.61619	0.297000	0.19635	GGA		0.498	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		12	12	0	0	0	1	0	12	12				
MCM3AP	8888	broad.mit.edu	37	21	47703664	47703664	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:47703664G>A	ENST00000397708.1	-	3	1562	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397694.1_5'Flank|MCM3AP_ENST00000291688.1_Silent_p.A436A|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397701.4_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	436	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGCACTGGATGGCTGTGACTT	0.517																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(1306-1308)gcC>gcT		minichromosome maintenance complex component 3 associated protein							141.0	125.0	131.0					21																	47703664		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47703664G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1308C>T	21.37:g.47703664G>A						MCM3AP_ENST00000291688.1_Silent_p.A436A	p.A436A			O60318	MCM3A_HUMAN			3	1562	-	Breast(49;0.112)		436					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.1308C>T	CCDS13734.1																																																																																				0.517	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		44	97	0	0	0	1	0	44	97				
TP53TG3HP	100130700	broad.mit.edu	37	16	34739638	34739638	+	lincRNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:34739638G>A	ENST00000562591.1	-	0	284				RP11-80F22.2_ENST00000569755.2_RNA	NR_034019.1																						ATTTAAATTTGTGTCTTCCAA	0.403																																						ENST00000562591.1																			0																																																			0							g.chr16:34739638G>A																													16.37:g.34739638G>A								NR_034019.1						0	284	-									RNA	SNP	ENST00000562591.1	37																																																																																						0.403	RP11-80F22.15-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000465648.1			4	10	0	0	0	1	0	4	10				
NUTM1	256646	broad.mit.edu	37	15	34646063	34646063	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:34646063C>T	ENST00000333756.4	+	4	1136	c.981C>T	c.(979-981)tgC>tgT	p.C327C	NUTM1_ENST00000537011.1_Silent_p.C355C|NUTM1_ENST00000438749.3_Silent_p.C345C	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	327						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTGAGGTTTGCCAGCAGCCAG	0.542																																						ENST00000537011.1																			0											c.(1063-1065)tgC>tgT		NUT midline carcinoma, family member 1							80.0	79.0	79.0					15																	34646063		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34646063C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.981C>T	15.37:g.34646063C>T						NUTM1_ENST00000333756.4_Silent_p.C327C|NUTM1_ENST00000438749.3_Silent_p.C345C	p.C355C							5	1447	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.1065C>T	CCDS32190.1																																																																																				0.542	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		7	75	0	0	0	1	0	7	75				
F2	2147	broad.mit.edu	37	11	46747480	46747480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:46747480G>A	ENST00000311907.5	+	7	687	c.631G>A	c.(631-633)Gag>Aag	p.E211K	F2_ENST00000530231.1_Missense_Mutation_p.E211K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	211					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ACCTCCATTGGAGCAGTGTGT	0.652																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(631-633)Gag>Aag		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						73.0	66.0	68.0					11																	46747480		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46747480G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.631G>A	11.37:g.46747480G>A	ENSP00000308541:p.Glu211Lys					F2_ENST00000530231.1_Missense_Mutation_p.E211K	p.E211K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	7	687	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	211					B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.631G>A	CCDS31476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.90|10.90	1.482424|1.482424	0.26598|0.26598	.|.	.|.	ENSG00000180210|ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468|ENST00000446804	T;T;T|.	0.80304|.	-1.36;-1.36;-1.36|.	5.2|5.2	4.23|4.23	0.50019|0.50019	Kringle (2);|.	0.784314|.	0.12290|.	N|.	0.482100|.	T|T	0.56411|0.56411	0.1983|0.1983	L|L	0.45581|0.45581	1.43|1.43	0.09310|0.09310	N|N	1|1	B|.	0.17268|.	0.021|.	B|.	0.15870|.	0.014|.	T|T	0.55153|0.55153	-0.8185|-0.8185	10|6	0.87932|0.87932	D|D	0|0	.|.	18.574|18.574	0.91147|0.91147	0.0:0.1682:0.8318:0.0|0.0:0.1682:0.8318:0.0	.|.	211|.	P00734|.	THRB_HUMAN|.	K|E	211;211;201|60	ENSP00000308541:E211K;ENSP00000433907:E211K;ENSP00000387413:E201K|.	ENSP00000308541:E211K|ENSP00000406403:G60E	E|G	+|+	1|2	0|0	F2|F2	46704056|46704056	0.003000|0.003000	0.15002|0.15002	0.007000|0.007000	0.13788|0.13788	0.001000|0.001000	0.01503|0.01503	1.199000|1.199000	0.32235|0.32235	2.424000|2.424000	0.82194|0.82194	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.652	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			34	52	0	0	0	1	0	34	52				
NELFA	7469	broad.mit.edu	37	4	1993424	1993424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:1993424C>T	ENST00000411638.2	-	2	244	c.229G>A	c.(229-231)Gag>Aag	p.E77K	NELFA_ENST00000542778.1_Intron|NELFA_ENST00000382882.3_Missense_Mutation_p.E88K	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	77					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)										TGGATGATCTCCATTAGGGCG	0.612																																						ENST00000382882.3																			0											c.(262-264)Gag>Aag		negative elongation factor complex member A							103.0	109.0	107.0					4																	1993424		2203	4300	6503	SO:0001583	missense	7469							g.chr4:1993424C>T	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.229G>A	4.37:g.1993424C>T	ENSP00000399165:p.Glu77Lys					NELFA_ENST00000411638.1_Missense_Mutation_p.E77K|NELFA_ENST00000542778.1_Intron	p.E88K	NM_005663.4	NP_005654.3					2	1379	-								A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.262G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.725456|4.725456	0.89298|0.89298	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000411638;ENST00000431323;ENST00000455762|ENST00000411649	T;T;T;T|.	0.55413|.	1.51;0.52;1.51;1.51|.	5.18|5.18	4.32|4.32	0.51571|0.51571	.|.	0.046816|.	0.85682|.	D|.	0.000000|.	T|.	0.74084|.	0.3670|.	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	B|.	0.33238|.	0.403|.	B|.	0.30782|.	0.12|.	T|.	0.74940|.	-0.3493|.	10|.	0.72032|.	D|.	0.01|.	-23.1261|-23.1261	15.6276|15.6276	0.76874|0.76874	0.0:0.8619:0.1381:0.0|0.0:0.8619:0.1381:0.0	.|.	77|.	Q9H3P2|.	NELFA_HUMAN|.	K|X	88;81;77;93;7|60	ENSP00000372335:E88K;ENSP00000387647:E81K;ENSP00000399165:E77K;ENSP00000395761:E93K|.	ENSP00000372335:E88K|.	E|W	-|-	1|3	0|0	WHSC2|WHSC2	1963222|1963222	1.000000|1.000000	0.71417|0.71417	0.707000|0.707000	0.30419|0.30419	0.799000|0.799000	0.45148|0.45148	7.653000|7.653000	0.83643|0.83643	1.161000|1.161000	0.42604|0.42604	0.462000|0.462000	0.41574|0.41574	GAG|TGG		0.612	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		6	89	0	0	0	1	0	6	89				
RNF10	9921	broad.mit.edu	37	12	120984233	120984233	+	Silent	SNP	G	G	A	rs538337097		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120984233G>A	ENST00000325954.4	+	2	644	c.183G>A	c.(181-183)aaG>aaA	p.K61K	RNF10_ENST00000413266.2_Silent_p.K61K	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	61	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGATCCAAGCGTTATAATC	0.428																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(181-183)aaG>aaA		ring finger protein 10							106.0	107.0	106.0					12																	120984233		2203	4300	6503	SO:0001819	synonymous_variant	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120984233G>A	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.183G>A	12.37:g.120984233G>A						RNF10_ENST00000413266.2_Silent_p.K61K	p.K61K	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			2	644	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		61			Ser-rich.		Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	c.183G>A	CCDS9201.1																																																																																				0.428	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			5	71	0	0	0	1	0	5	71				
CORT	1325	broad.mit.edu	37	1	10510346	10510346	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:10510346C>T	ENST00000377049.3	+	1	571	c.66C>T	c.(64-66)ccC>ccT	p.P22P	CORT_ENST00000320498.4_Silent_p.P72P|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602296.1_Intron	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	22					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CTGCCCTGCCCCTGGAGGGTG	0.672																																						ENST00000377049.3																			0				breast(1)|endometrium(1)|stomach(1)	3						c.(64-66)ccC>ccT		cortistatin							22.0	24.0	23.0					1																	10510346		2203	4296	6499	SO:0001819	synonymous_variant	1325							g.chr1:10510346C>T	AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.66C>T	1.37:g.10510346C>T						APITD1-CORT_ENST00000400900.2_Intron|CORT_ENST00000320498.4_Silent_p.P72P|APITD1_ENST00000602296.1_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000470413.2_Intron	p.P22P	NM_001302.4	NP_001293.3				UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)	1	571	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						Q5T6G0|Q6UX11	Silent	SNP	ENST00000377049.3	37	c.66C>T	CCDS117.2																																																																																				0.672	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302		17	32	0	0	0	1	0	17	32				
ADAMTS9	56999	broad.mit.edu	37	3	64608206	64608206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:64608206C>T	ENST00000498707.1	-	17	2788	c.2446G>A	c.(2446-2448)Gcc>Acc	p.A816T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A788T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	816	Spacer.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCCTTTTGGCCATTGTGACA	0.408																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(2446-2448)Gcc>Acc		ADAM metallopeptidase with thrombospondin type 1 motif, 9							109.0	101.0	104.0					3																	64608206		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64608206C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2446G>A	3.37:g.64608206C>T	ENSP00000418735:p.Ala816Thr					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A788T	p.A816T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	17	2788	-		Lung NSC(201;0.00682)	816			Spacer.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2446G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862331	0.32884	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.52295	0.67;0.67	5.85	3.46	0.39613	ADAM-TS Spacer 1 (1);	0.279106	0.36303	N	0.002672	T	0.36908	0.0984	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.16802	0.019;0.015;0.012;0.004	B;B;B;B	0.25405	0.054;0.06;0.033;0.023	T	0.08126	-1.0737	10	0.14252	T	0.57	.	12.8993	0.58117	0.7324:0.2675:0.0:0.0	.	788;816;816;816	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	T	788;816	ENSP00000295903:A788T;ENSP00000418735:A816T	ENSP00000295903:A788T	A	-	1	0	ADAMTS9	64583246	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	6.243000	0.72384	0.460000	0.27045	-0.474000	0.04947	GCC		0.408	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			13	87	0	0	0	1	0	13	87				
TCOF1	6949	broad.mit.edu	37	5	149771146	149771146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149771146G>A	ENST00000504761.2	+	20	3223	c.3223G>A	c.(3223-3225)Gct>Act	p.A1075T	TCOF1_ENST00000439160.2_Intron|TCOF1_ENST00000451292.1_Missense_Mutation_p.A1112T|TCOF1_ENST00000445265.2_Missense_Mutation_p.A998T|TCOF1_ENST00000323668.7_Missense_Mutation_p.A998T|TCOF1_ENST00000513346.1_Intron|TCOF1_ENST00000377797.3_Missense_Mutation_p.A1075T			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1075					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGACCCAGGCTGCCCTGAA	0.612																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3334-3336)Gct>Act		Treacher Collins-Franceschetti syndrome 1							93.0	84.0	87.0					5																	149771146		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149771146G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3223G>A	5.37:g.149771146G>A	ENSP00000421655:p.Ala1075Thr					TCOF1_ENST00000323668.7_Missense_Mutation_p.A998T|TCOF1_ENST00000439160.2_Intron|TCOF1_ENST00000504761.2_Missense_Mutation_p.A1075T|TCOF1_ENST00000513346.1_Intron|TCOF1_ENST00000445265.2_Missense_Mutation_p.A998T|TCOF1_ENST00000377797.3_Missense_Mutation_p.A1075T	p.A1112T			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	3442	+		all_hematologic(541;0.224)	1075					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3334G>A	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377188	0.42105	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000504761	T;T;T;T;T	0.79454	-1.27;-1.26;-1.27;-1.26;-1.25	3.87	3.0	0.34707	.	.	.	.	.	T	0.75451	0.3851	N	0.22421	0.69	0.21878	N	0.999494	D;D;D	0.63046	0.992;0.987;0.992	P;P;P	0.60541	0.876;0.693;0.876	T	0.62927	-0.6750	9	0.54805	T	0.06	-6.0522	7.4754	0.27374	0.1165:0.0:0.8835:0.0	.	998;1075;998	Q13428-2;Q13428;Q13428-8	.;TCOF_HUMAN;.	T	1112;1075;998;998;1075	ENSP00000400939:A1112T;ENSP00000367028:A1075T;ENSP00000409944:A998T;ENSP00000325223:A998T;ENSP00000421655:A1075T	ENSP00000325223:A998T	A	+	1	0	TCOF1	149751339	1.000000	0.71417	0.966000	0.40874	0.181000	0.23173	3.350000	0.52224	1.214000	0.43395	-0.136000	0.14681	GCT		0.612	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		4	63	0	0	0	1	0	4	63				
CA7	766	broad.mit.edu	37	16	66887369	66887369	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:66887369G>A	ENST00000338437.2	+	7	872	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	CA7_ENST00000394069.3_Missense_Mutation_p.G199S|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	255					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	GCCACTGAAGGGCCGCGTGGT	0.592																																						ENST00000394069.3																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(595-597)Ggc>Agc		carbonic anhydrase VII							43.0	41.0	42.0					16																	66887369		2200	4300	6500	SO:0001583	missense	766				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66887369G>A		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.763G>A	16.37:g.66887369G>A	ENSP00000345659:p.Gly255Ser					CA7_ENST00000338437.2_Missense_Mutation_p.G255S	p.G199S	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	7	1026	+		Ovarian(137;0.0563)	255					Q541F0|Q86YU0	Missense_Mutation	SNP	ENST00000338437.2	37	c.595G>A	CCDS10821.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054079	0.75960	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	T;T	0.65732	-0.17;-0.17	5.18	4.22	0.49857	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.050584	0.85682	N	0.000000	T	0.65428	0.2690	M	0.64080	1.96	0.58432	D	0.999999	P	0.44006	0.824	P	0.47626	0.552	T	0.66420	-0.5928	10	0.44086	T	0.13	-22.9811	12.7238	0.57159	0.0807:0.0:0.9193:0.0	.	255	P43166	CAH7_HUMAN	S	255;199	ENSP00000345659:G255S;ENSP00000377632:G199S	ENSP00000345659:G255S	G	+	1	0	CA7	65444870	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	9.222000	0.95196	1.319000	0.45190	0.561000	0.74099	GGC		0.592	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1			5	34	0	0	0	1	0	5	34				
FBXO24	26261	broad.mit.edu	37	7	100192731	100192731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100192731G>A	ENST00000241071.6	+	7	1281	c.959G>A	c.(958-960)gGg>gAg	p.G320E	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Intron|FBXO24_ENST00000468962.1_Missense_Mutation_p.G308E|FBXO24_ENST00000427939.2_Missense_Mutation_p.G358E|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Intron	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	320					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGACCAGGGGGGAGTGTAT	0.582																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(958-960)gGg>gAg		F-box protein 24							76.0	75.0	75.0					7																	100192731		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100192731G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.959G>A	7.37:g.100192731G>A	ENSP00000241071:p.Gly320Glu					FBXO24_ENST00000427939.2_Missense_Mutation_p.G358E|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.G308E|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Intron|FBXO24_ENST00000465843.1_Intron	p.G320E	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			7	1281	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		320					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.959G>A	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449081	0.84101	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	D;D;D	0.88509	-2.39;-2.39;-2.39	4.92	4.92	0.64577	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000009	D	0.88336	0.6409	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	P;D;D;D	0.91635	0.809;0.999;0.999;0.999	D	0.90994	0.4837	10	0.87932	D	0	-14.9004	15.7114	0.77631	0.0:0.0:1.0:0.0	.	308;358;320;320	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	E	320;308;358	ENSP00000241071:G320E;ENSP00000420239:G308E;ENSP00000416558:G358E	ENSP00000241071:G320E	G	+	2	0	FBXO24	100030667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.771000	0.68881	2.571000	0.86741	0.485000	0.47835	GGG		0.582	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			30	66	0	0	0	1	0	30	66				
GAK	2580	broad.mit.edu	37	4	871578	871578	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:871578C>T	ENST00000314167.4	-	16	1791	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	GAK_ENST00000511163.1_Missense_Mutation_p.D482N	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	561	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCACCATGTCACACATGTAC	0.602																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1681-1683)Gac>Aac		cyclin G associated kinase							59.0	53.0	55.0					4																	871578		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:871578C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1681G>A	4.37:g.871578C>T	ENSP00000314499:p.Asp561Asn					GAK_ENST00000511163.1_Missense_Mutation_p.D482N	p.D561N	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	16	1791	-			561			Phosphatase tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1681G>A	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577519	0.96565	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98585	-5.01;-5.01	5.71	5.71	0.89125	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	L	0.38953	1.18	0.80722	D	1	D;D;D;D	0.67145	0.996;0.973;0.996;0.996	D;P;D;D	0.63597	0.916;0.727;0.916;0.916	D	0.98753	1.0721	10	0.56958	D	0.05	-50.8974	17.3485	0.87316	0.0:1.0:0.0:0.0	.	482;482;561;457	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	N	561;482	ENSP00000314499:D561N;ENSP00000421361:D482N	ENSP00000314499:D561N	D	-	1	0	GAK	861578	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	4.354000	0.59417	2.697000	0.92050	0.655000	0.94253	GAC		0.602	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		14	35	0	0	0	1	0	14	35				
KCTD21	283219	broad.mit.edu	37	11	77885157	77885157	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:77885157G>A	ENST00000340067.3	-	2	722	c.444C>T	c.(442-444)atC>atT	p.I148I	KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	148					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGGTGCTGAAGATGTTGGCGT	0.567																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(442-444)atC>atT		potassium channel tetramerization domain containing 21							144.0	124.0	131.0					11																	77885157		2200	4292	6492	SO:0001819	synonymous_variant	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885157G>A	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.444C>T	11.37:g.77885157G>A						KCTD21-AS1_ENST00000600795.1_RNA	p.I148I	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	722	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		148					B4DTR0	Silent	SNP	ENST00000340067.3	37	c.444C>T	CCDS31645.1																																																																																				0.567	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		33	38	0	0	0	1	0	33	38				
LRRC61	65999	broad.mit.edu	37	7	150034575	150034575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150034575C>T	ENST00000359623.4	+	3	1213	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	LRRC61_ENST00000323078.7_Missense_Mutation_p.P209S|LRRC61_ENST00000493307.1_Missense_Mutation_p.P209S	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	209										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGAGTCCTGGCCCAGCCGGAG	0.701																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(625-627)Ccc>Tcc		leucine rich repeat containing 61							23.0	25.0	25.0					7																	150034575		2202	4299	6501	SO:0001583	missense	65999							g.chr7:150034575C>T	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.625C>T	7.37:g.150034575C>T	ENSP00000352642:p.Pro209Ser					LRRC61_ENST00000493307.1_Missense_Mutation_p.P209S|LRRC61_ENST00000323078.7_Missense_Mutation_p.P209S	p.P209S	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1213	+			209					B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	c.625C>T	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872492	0.33069	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.32023	1.47;1.47;1.47	3.97	3.97	0.46021	.	0.253519	0.32204	U	0.006432	T	0.19644	0.0472	L	0.27053	0.805	0.19300	N	0.999978	D	0.54047	0.964	B	0.42112	0.376	T	0.13845	-1.0494	10	0.07813	T	0.8	-25.2646	13.6487	0.62297	0.0:1.0:0.0:0.0	.	209	Q9BV99	LRC61_HUMAN	S	209	ENSP00000339047:P209S;ENSP00000352642:P209S;ENSP00000420560:P209S	ENSP00000339047:P209S	P	+	1	0	LRRC61	149665508	0.862000	0.29867	0.553000	0.28255	0.728000	0.41692	2.379000	0.44318	2.074000	0.62210	0.306000	0.20318	CCC		0.701	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		9	20	0	0	0	1	0	9	20				
RAB39B	116442	broad.mit.edu	37	X	154490511	154490511	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:154490511G>A	ENST00000369454.3	-	2	519	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	73					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCGAGTGATGGATCTAAAAC	0.433																																						ENST00000369454.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(217-219)tcC>tcT		RAB39B, member RAS oncogene family							101.0	102.0	102.0					X																	154490511		2202	4300	6502	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490511G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.219C>T	X.37:g.154490511G>A							p.S73S	NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN			2	519	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		73					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.219C>T	CCDS14766.1																																																																																				0.433	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		66	120	0	0	0	1	0	66	120				
SLC4A2	6522	broad.mit.edu	37	7	150761801	150761801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150761801G>A	ENST00000485713.1	+	4	1446	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	SLC4A2_ENST00000413384.2_Missense_Mutation_p.G136R|SLC4A2_ENST00000461735.1_Missense_Mutation_p.G122R|SLC4A2_ENST00000392826.2_Missense_Mutation_p.G127R|SLC4A2_ENST00000310317.5_Missense_Mutation_p.G54R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	136	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGGCTGAGGGGGCCCGGGC	0.697																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(406-408)Ggg>Agg		solute carrier family 4 (anion exchanger), member 2							26.0	32.0	30.0					7																	150761801		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150761801G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.406G>A	7.37:g.150761801G>A	ENSP00000419412:p.Gly136Arg					SLC4A2_ENST00000413384.2_Missense_Mutation_p.G136R|SLC4A2_ENST00000392826.2_Missense_Mutation_p.G127R|SLC4A2_ENST00000310317.5_Missense_Mutation_p.G54R|SLC4A2_ENST00000461735.1_Missense_Mutation_p.G122R	p.G136R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	1446	+			136			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.406G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	8.122	0.781249	0.16120	.	.	ENSG00000164889	ENST00000483786;ENST00000485713;ENST00000413384;ENST00000490898;ENST00000463414;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T;T;T;T	0.76448	0.73;-1.02;-1.02;1.49;0.69;-0.88;-1.01;-1.0	5.3	4.3	0.51218	.	1.121650	0.06572	N	0.748765	T	0.71995	0.3406	L	0.50333	1.59	0.26951	N	0.966032	B;B;B	0.14805	0.011;0.011;0.007	B;B;B	0.16722	0.016;0.016;0.01	T	0.55835	-0.8078	10	0.20046	T	0.44	.	8.5366	0.33366	0.1415:0.0:0.8585:0.0	.	127;122;136	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	R	136;136;136;136;136;54;127;122	ENSP00000417808:G136R;ENSP00000419412:G136R;ENSP00000405600:G136R;ENSP00000418114:G136R;ENSP00000418584:G136R;ENSP00000311402:G54R;ENSP00000376571:G127R;ENSP00000419164:G122R	ENSP00000311402:G54R	G	+	1	0	SLC4A2	150392734	0.990000	0.36364	1.000000	0.80357	0.289000	0.27227	2.088000	0.41663	2.478000	0.83669	0.563000	0.77884	GGG		0.697	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		14	31	0	0	0	1	0	14	31				
DIP2C	22982	broad.mit.edu	37	10	332241	332241	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:332241C>T	ENST00000280886.6	-	34	4178	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1364						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCCCAGCGGTCCTTTTGTTTC	0.478																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(4090-4092)gGa>gAa		DIP2 disco-interacting protein 2 homolog C (Drosophila)							191.0	197.0	195.0					10																	332241		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:332241C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4091G>A	10.37:g.332241C>T	ENSP00000280886:p.Gly1364Glu						p.G1364E	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	34	4178	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1364					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.4091G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566104	0.86439	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.37584	1.19	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.43757	1.38	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.23619	-1.0183	10	0.16896	T	0.51	-24.9835	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1364	Q9Y2E4	DIP2C_HUMAN	E	1364;289	ENSP00000280886:G1364E	ENSP00000280886:G1364E	G	-	2	0	DIP2C	322241	1.000000	0.71417	0.999000	0.59377	0.487000	0.33371	7.818000	0.86416	2.804000	0.96469	0.655000	0.94253	GGA		0.478	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		48	175	0	0	0	1	0	48	175				
FAM135B	51059	broad.mit.edu	37	8	139209912	139209912	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:139209912C>T	ENST00000395297.1	-	8	840	c.670G>A	c.(670-672)Gga>Aga	p.G224R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	224										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)			TAGAAGCTTCCCTAAGGGGTG	0.557										HNSCC(54;0.14)																												ENST00000395297.1																			0				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						c.e8-1		family with sequence similarity 135, member B							77.0	90.0	85.0					8																	139209912		2106	4251	6357	SO:0001630	splice_region_variant	51059							g.chr8:139209912C>T	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.670-1G>A	8.37:g.139209912C>T		HNSCC(54;0.14)					p.G224_splice	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	840	-	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)		224					B5MDB3|O95879|Q2WGJ7|Q3KP46	Splice_Site	SNP	ENST00000395297.1	37	c.669_splice	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175785	0.57692	.	.	ENSG00000147724	ENST00000395297	T	0.16196	2.36	4.74	4.74	0.60224	.	0.138105	0.49916	D	0.000122	T	0.41050	0.1142	M	0.74881	2.28	0.52099	D	0.999949	D	0.89917	1.0	D	0.91635	0.999	T	0.24261	-1.0165	10	0.59425	D	0.04	-21.2642	13.1038	0.59235	0.0:1.0:0.0:0.0	.	224	Q49AJ0	F135B_HUMAN	R	224	ENSP00000378710:G224R	ENSP00000276737:G224R	G	-	1	0	FAM135B	139279094	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	5.179000	0.65043	2.473000	0.83533	0.563000	0.77884	GGA		0.557	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	Missense_Mutation	17	4	0	0	0	1	0	17	4				
TRADD	8717	broad.mit.edu	37	16	67190560	67190560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67190560C>T	ENST00000345057.4	-	2	472	c.4G>A	c.(4-6)Gca>Aca	p.A2T	TRADD_ENST00000566104.1_5'UTR|TRADD_ENST00000486556.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	2					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TGCCCAGCTGCCATCTCACCT	0.612																																						ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(4-6)Gca>Aca		TNFRSF1A-associated via death domain							186.0	143.0	157.0					16																	67190560		2198	4300	6498	SO:0001583	missense	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67190560C>T	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.4G>A	16.37:g.67190560C>T	ENSP00000341268:p.Ala2Thr					TRADD_ENST00000566104.1_5'UTR	p.A2T	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	472	-		Ovarian(137;0.0563)	2					B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	c.4G>A	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782148	0.90282	.	.	ENSG00000102871	ENST00000345057	.	.	.	4.63	4.63	0.57726	TRADD, N-terminal (1);	0.302281	0.32028	N	0.006700	T	0.74489	0.3723	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.927	T	0.76898	-0.2789	9	0.87932	D	0	-12.5458	12.8526	0.57867	0.0:1.0:0.0:0.0	.	2;2	B4DWM0;Q15628	.;TRADD_HUMAN	T	2	.	ENSP00000341268:A2T	A	-	1	0	TRADD	65748061	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.473000	0.60196	2.422000	0.82143	0.462000	0.41574	GCA		0.612	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			43	86	0	0	0	1	0	43	86				
TRBV10-2	28584	broad.mit.edu	37	7	142206582	142206582	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:142206582C>T	ENST00000426318.2	-	0	323									T cell receptor beta variable 10-2																		GGGGGAAATTCTCTGTCTTGG	0.527																																						ENST00000426318.2																			0																				89.0	98.0	95.0					7																	142206582		2069	4226	6295			0							g.chr7:142206582C>T	U17049		7q34	2012-02-07			ENSG00000229769	ENSG00000229769		"""T cell receptors / TRB locus"""	12178	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV102, TCRBV10S2, TCRBV12S3			OTTHUMG00000158535		7.37:g.142206582C>T														0	323	-									RNA	SNP	ENST00000426318.2	37																																																																																						0.527	TRBV10-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351241.1	NG_001333		39	133	0	0	0	1	0	39	133				
GPR75	10936	broad.mit.edu	37	2	54080747	54080747	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:54080747G>A	ENST00000394705.2	-	2	1417	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	383					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCCTTCTCAGCCCTGCACTG	0.423																																						ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1147-1149)Ctg>Ttg		G protein-coupled receptor 75							65.0	73.0	71.0					2																	54080747		2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080747G>A	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1147C>T	2.37:g.54080747G>A						ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	p.L383L	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1417	-			383					B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.1147C>T	CCDS1849.1																																																																																				0.423	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			37	76	0	0	0	1	0	37	76				
NBPF1	55672	broad.mit.edu	37	1	16901186	16901186	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16901186C>T	ENST00000430580.2	-	21	3081	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	NBPF1_ENST00000432949.1_Splice_Site_p.E190K|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Splice_Site_p.E97K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	732	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCGGCATCTCCCTGATGAGC	0.517																																						ENST00000430580.2																			0											c.e21-1		neuroblastoma breakpoint family, member 1							71.0	73.0	72.0					1																	16901186		1508	2697	4205	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16901186C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2193-1G>A	1.37:g.16901186C>T						NBPF1_ENST00000432949.1_Splice_Site_p.E190_splice|NBPF1_ENST00000287968.8_Splice_Site_p.E97_splice	p.E732_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	21	3081	-			732			NBPF 3.		Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.2192_splice																																																																																					0.517	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Missense_Mutation	14	723	0	0	0	1	0	14	723				
TSPAN12	23554	broad.mit.edu	37	7	120450550	120450550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:120450550C>T	ENST00000222747.3	-	6	1042	c.435G>A	c.(433-435)tgG>tgA	p.W145*	TSPAN12_ENST00000415871.1_Nonsense_Mutation_p.W145*	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	145					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CATGAGTAAGCCACCGATATC	0.388																																						ENST00000222747.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10						c.(433-435)tgG>tgA		tetraspanin 12							151.0	142.0	145.0					7																	120450550		2203	4300	6503	SO:0001587	stop_gained	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120450550C>T	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.435G>A	7.37:g.120450550C>T	ENSP00000222747:p.Trp145*					TSPAN12_ENST00000415871.1_Nonsense_Mutation_p.W145*	p.W145*	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN			6	1042	-	all_neural(327;0.117)		145					A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Nonsense_Mutation	SNP	ENST00000222747.3	37	c.435G>A	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745169	0.69418	.	.	ENSG00000106025	ENST00000222747;ENST00000415871;ENST00000441017	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-15.2655	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000222747:W145X	W	-	3	0	TSPAN12	120237786	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.485000	0.73625	2.783000	0.95769	0.655000	0.94253	TGG		0.388	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		36	167	0	0	0	1	0	36	167				
QSER1	79832	broad.mit.edu	37	11	32954014	32954014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:32954014C>T	ENST00000399302.2	+	4	1158	c.823C>T	c.(823-825)Cct>Tct	p.P275S	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	275	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGGGTATCCTCCTTCTACTAC	0.443																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(823-825)Cct>Tct		glutamine and serine rich 1							78.0	73.0	74.0					11																	32954014		1870	4098	5968	SO:0001583	missense	79832							g.chr11:32954014C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.823C>T	11.37:g.32954014C>T	ENSP00000382241:p.Pro275Ser					QSER1_ENST00000527788.1_Intron	p.P275S	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	1158	+	Breast(20;0.158)		275			Ser-rich.		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.823C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	5.733	0.319788	0.10845	.	.	ENSG00000060749	ENST00000399302	T	0.42131	0.98	4.65	1.54	0.23209	.	0.000000	0.41500	U	0.000869	T	0.20007	0.0481	N	0.17082	0.46	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.08576	-1.0715	10	0.10902	T	0.67	.	6.0539	0.19800	0.0:0.5587:0.1298:0.3115	.	275	Q2KHR3	QSER1_HUMAN	S	275	ENSP00000382241:P275S	ENSP00000382241:P275S	P	+	1	0	QSER1	32910590	0.996000	0.38824	0.987000	0.45799	0.878000	0.50629	0.403000	0.20982	0.095000	0.17434	-0.350000	0.07774	CCT		0.443	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		4	75	0	0	0	1	0	4	75				
MUC16	94025	broad.mit.edu	37	19	9086559	9086559	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9086559G>A	ENST00000397910.4	-	1	5459	c.5256C>T	c.(5254-5256)acC>acT	p.T1752T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1752	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)				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						TAGGAGATGAGGTTAGAGGGA	0.507																																						ENST00000397910.4																			0				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						c.(5254-5256)acC>acT		mucin 16, cell surface associated							134.0	123.0	127.0					19																	9086559		1970	4165	6135	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086559G>A	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.5256C>T	19.37:g.9086559G>A							p.T1752T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5459	-			1752			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.5256C>T	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	69	0	0	0	1	0	21	69				
ARMCX1	51309	broad.mit.edu	37	X	100809236	100809236	+	Silent	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100809236G>T	ENST00000372829.3	+	4	1694	c.1323G>T	c.(1321-1323)gtG>gtT	p.V441V		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	441						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ATGATCTGGTGGTGAAAGTAA	0.343																																						ENST00000372829.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						c.(1321-1323)gtG>gtT		armadillo repeat containing, X-linked 1							51.0	51.0	51.0					X																	100809236		2151	4249	6400	SO:0001819	synonymous_variant	51309					integral to membrane	binding	g.chrX:100809236G>T	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.1323G>T	X.37:g.100809236G>T							p.V441V	NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN			4	1694	+			441					Q53HK2|Q9H2Q0	Silent	SNP	ENST00000372829.3	37	c.1323G>T	CCDS14487.1																																																																																				0.343	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		29	57	1	0	1.32181e-22	1	1.32987e-22	29	57				
SFTPA2	729238	broad.mit.edu	37	10	81318700	81318700	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:81318700G>A	ENST00000372325.2	-	4	318	c.234C>T	c.(232-234)gcC>gcT	p.A78A	SFTPA2_ENST00000372327.5_Silent_p.A78A	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	78	Collagen-like.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGACACCAGGGGCTCCAGGCA	0.622									Pulmonary Fibrosis, Idiopathic																													ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(232-234)gcC>gcT		surfactant protein A2							120.0	134.0	129.0					10																	81318700		2203	4296	6499	SO:0001819	synonymous_variant	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81318700G>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.234C>T	10.37:g.81318700G>A						SFTPA2_ENST00000372327.5_Silent_p.A78A	p.A78A	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		4	318	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		78			Collagen-like.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Silent	SNP	ENST00000372325.2	37	c.234C>T	CCDS41540.1																																																																																				0.622	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		101	148	0	0	0	1	0	101	148				
DLG1	1739	broad.mit.edu	37	3	196867124	196867124	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:196867124C>T	ENST00000419354.1	-	9	985	c.699G>A	c.(697-699)ggG>ggA	p.G233G	DLG1_ENST00000422288.1_Silent_p.G182G|DLG1_ENST00000392382.2_Silent_p.G200G|DLG1_ENST00000314062.3_Silent_p.G182G|DLG1_ENST00000452595.1_Silent_p.G117G|DLG1_ENST00000450955.1_Silent_p.G200G|DLG1_ENST00000357674.4_Silent_p.G200G|DLG1_ENST00000443183.1_Silent_p.G117G|DLG1_ENST00000448528.2_Silent_p.G233G|DLG1_ENST00000346964.2_Silent_p.G233G			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	233	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAAACCAAGCCCTGAATTTC	0.418																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(697-699)ggG>ggA		discs, large homolog 1 (Drosophila)							125.0	123.0	124.0					3																	196867124		2203	4300	6503	SO:0001819	synonymous_variant	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196867124C>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.699G>A	3.37:g.196867124C>T						DLG1_ENST00000419354.1_Silent_p.G233G|DLG1_ENST00000443183.1_Silent_p.G117G|DLG1_ENST00000448528.2_Silent_p.G233G|DLG1_ENST00000392382.2_Silent_p.G200G|DLG1_ENST00000422288.1_Silent_p.G182G|DLG1_ENST00000357674.4_Silent_p.G200G|DLG1_ENST00000450955.1_Silent_p.G200G|DLG1_ENST00000452595.1_Silent_p.G117G|DLG1_ENST00000314062.3_Silent_p.G182G	p.G233G	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	9	888	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	233			PDZ 1.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Silent	SNP	ENST00000419354.1	37	c.699G>A	CCDS43194.1																																																																																				0.418	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		7	113	0	0	0	1	0	7	113				
HERC2	8924	broad.mit.edu	37	15	28421745	28421745	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:28421745C>T	ENST00000261609.7	-	63	9623	c.9515G>A	c.(9514-9516)gGt>gAt	p.G3172D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAATACCAAACCTAGGTTTAA	0.488																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.e63-1		HECT and RLD domain containing E3 ubiquitin protein ligase 2							98.0	108.0	105.0					15																	28421745		2203	4300	6503	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28421745C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9515-1G>A	15.37:g.28421745C>T							p.G3172_splice	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	63	9623	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3172						Splice_Site	SNP	ENST00000261609.7	37	c.9514_splice	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169554	0.78452	.	.	ENSG00000128731	ENST00000261609	D	0.97959	-4.63	5.65	4.71	0.59529	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.109676	0.64402	D	0.000010	D	0.98391	0.9465	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99312	1.0904	10	0.66056	D	0.02	.	16.4965	0.84246	0.0:0.8689:0.1311:0.0	.	3172	O95714	HERC2_HUMAN	D	3172	ENSP00000261609:G3172D	ENSP00000261609:G3172D	G	-	2	0	HERC2	26095340	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	1.344000	0.45657	0.585000	0.79938	GGT		0.488	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Missense_Mutation	16	169	0	0	0	1	0	16	169				
DCAF5	8816	broad.mit.edu	37	14	69584881	69584881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:69584881C>T	ENST00000341516.5	-	4	657	c.510G>A	c.(508-510)tgG>tgA	p.W170*	DCAF5_ENST00000389997.6_Nonsense_Mutation_p.W170*|DCAF5_ENST00000556847.1_Nonsense_Mutation_p.W88*|DCAF5_ENST00000557386.1_Nonsense_Mutation_p.W169*|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Nonsense_Mutation_p.W88*	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	170					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CCCGAATGTCCCAAATGAGAA	0.453																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(508-510)tgG>tgA		DDB1 and CUL4 associated factor 5							115.0	105.0	108.0					14																	69584881		2203	4300	6503	SO:0001587	stop_gained	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69584881C>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.510G>A	14.37:g.69584881C>T	ENSP00000341351:p.Trp170*					DCAF5_ENST00000554215.1_Nonsense_Mutation_p.W88*|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Nonsense_Mutation_p.W169*|DCAF5_ENST00000389997.6_Nonsense_Mutation_p.W170*|DCAF5_ENST00000556847.1_Nonsense_Mutation_p.W88*	p.W170*	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			4	657	-			170					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Nonsense_Mutation	SNP	ENST00000341516.5	37	c.510G>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	39	7.712019	0.98447	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0486	20.2019	0.98263	0.0:1.0:0.0:0.0	.	.	.	.	X	170;88;88;169;170;87	.	ENSP00000341351:W170X	W	-	3	0	DCAF5	68654634	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.776000	0.95493	0.655000	0.94253	TGG		0.453	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		4	74	0	0	0	1	0	4	74				
GALNT7	51809	broad.mit.edu	37	4	174216593	174216593	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:174216593C>T	ENST00000265000.4	+	4	884	c.801C>T	c.(799-801)ggC>ggT	p.G267G	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Silent_p.G267G	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	267	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TGTGGAATGGCCTAGTGAAGG	0.338																																						ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(799-801)ggC>ggT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)							110.0	118.0	116.0					4																	174216593		2203	4300	6503	SO:0001819	synonymous_variant	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174216593C>T	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.801C>T	4.37:g.174216593C>T						GALNT7_ENST00000512285.1_Silent_p.G267G|GALNT7_ENST00000502407.1_3'UTR	p.G267G	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	4	884	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	267			Catalytic subdomain A.		B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	ENST00000265000.4	37	c.801C>T	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	C	9.184	1.024286	0.19433	.	.	ENSG00000109586	ENST00000505308	.	.	.	5.76	4.03	0.46877	.	.	.	.	.	T	0.62925	0.2468	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61613	-0.7027	4	.	.	.	.	11.9041	0.52701	0.0:0.8599:0.0:0.1401	.	.	.	.	V	64	.	.	A	+	2	0	GALNT7	174453168	0.998000	0.40836	0.998000	0.56505	0.985000	0.73830	0.535000	0.23114	1.447000	0.47661	-0.140000	0.14226	GCC		0.338	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		5	46	0	0	0	1	0	5	46				
VARS2	57176	broad.mit.edu	37	6	30893342	30893342	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30893342C>T	ENST00000321897.5	+	27	3439	c.2807C>T	c.(2806-2808)cCt>cTt	p.P936L	VARS2_ENST00000542001.1_Missense_Mutation_p.P796L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.P936L|VARS2_ENST00000541562.1_Missense_Mutation_p.P966L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	936					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTCAGAGCCTGGGGACCAG	0.652																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(2806-2808)cCt>cTt		valyl-tRNA synthetase 2, mitochondrial							24.0	29.0	27.0					6																	30893342		1487	2697	4184	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30893342C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2807C>T	6.37:g.30893342C>T	ENSP00000316092:p.Pro936Leu					VARS2_ENST00000416670.2_Missense_Mutation_p.P936L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.P966L|VARS2_ENST00000542001.1_Missense_Mutation_p.P796L	p.P936L			Q5ST30	SYVM_HUMAN			27	3439	+			936					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.2807C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670121	0.47677	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.62	4.75	0.60458	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.404849	0.27088	N	0.020996	T	0.11153	0.0272	M	0.70595	2.14	0.50171	D	0.999851	P;B;B;B	0.47762	0.9;0.026;0.045;0.003	P;B;B;B	0.45138	0.471;0.008;0.031;0.007	T	0.03166	-1.1065	10	0.37606	T	0.19	-10.6886	12.0417	0.53456	0.172:0.828:0.0:0.0	.	374;934;966;936	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	L	936;936;796;966	ENSP00000316092:P936L;ENSP00000394802:P936L;ENSP00000438200:P796L;ENSP00000441000:P966L	ENSP00000316092:P936L	P	+	2	0	VARS2	31001321	0.631000	0.27164	0.813000	0.32504	0.965000	0.64279	0.830000	0.27462	1.371000	0.46172	0.655000	0.94253	CCT		0.652	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		16	30	0	0	0	1	0	16	30				
CEACAM1	634	broad.mit.edu	37	19	43026114	43026114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:43026114C>T	ENST00000161559.6	-	3	799	c.665G>A	c.(664-666)aGt>aAt	p.S222N	LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.S222N|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.S222N|CEACAM1_ENST00000403461.1_Missense_Mutation_p.S222N|CEACAM1_ENST00000352591.5_Missense_Mutation_p.S222N|CEACAM1_ENST00000308072.4_Missense_Mutation_p.S182N|CEACAM1_ENST00000403444.3_Missense_Mutation_p.S222N|CEACAM1_ENST00000351134.3_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	222	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GCGGTTCGCACTCACTGGGTT	0.557																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(664-666)aGt>aAt		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						210.0	188.0	195.0					19																	43026114		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43026114C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.665G>A	19.37:g.43026114C>T	ENSP00000161559:p.Ser222Asn					CEACAM1_ENST00000403461.1_Missense_Mutation_p.S222N|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.S222N|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.S182N|CEACAM1_ENST00000352591.5_Missense_Mutation_p.S222N|CEACAM1_ENST00000599389.1_Missense_Mutation_p.S222N|CEACAM1_ENST00000403444.3_Missense_Mutation_p.S222N	p.S222N	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	3	799	-		Prostate(69;0.00682)	222			Ig-like C2-type 1.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.665G>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646445	0.29246	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	4.69	-2.15	0.07102	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29126	0.0724	M	0.78223	2.4	0.09310	N	1	P;B;P;D;D;B;P;B;P	0.69078	0.694;0.186;0.954;0.997;0.974;0.178;0.883;0.175;0.763	P;P;P;D;D;B;P;P;P	0.74674	0.71;0.529;0.869;0.984;0.937;0.327;0.831;0.576;0.713	T	0.12372	-1.0550	9	0.45353	T	0.12	.	4.5429	0.12067	0.0:0.3988:0.3003:0.3009	.	222;222;222;222;222;222;222;222;222	P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;CEAM1_HUMAN	N	222;222;249;182;222;222;222;182;222;222;222	ENSP00000161559:S222N;ENSP00000351165:S222N;ENSP00000244291:S222N;ENSP00000384709:S222N;ENSP00000384083:S222N;ENSP00000312184:S182N	ENSP00000161559:S222N	S	-	2	0	CEACAM1	47717954	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.388000	0.07352	-0.129000	0.11620	0.561000	0.74099	AGT		0.557	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		64	123	0	0	0	1	0	64	123				
SYNPO2	171024	broad.mit.edu	37	4	119948337	119948337	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:119948337C>T	ENST00000429713.2	+	3	995	c.813C>T	c.(811-813)atC>atT	p.I271I	SYNPO2_ENST00000307142.4_Silent_p.I271I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.I271I	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	271						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGAGAGTGATCCAGGAAAGTG	0.522																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(811-813)atC>atT		synaptopodin 2							65.0	68.0	67.0					4																	119948337		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948337C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.813C>T	4.37:g.119948337C>T						SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.I271I|SYNPO2_ENST00000429713.2_Silent_p.I271I	p.I271I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			3	1009	+			271					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	c.813C>T	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	1.510	-0.549831	0.03996	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.11	4.26	0.50523	.	.	.	.	.	T	0.69682	0.3138	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68957	-0.5272	4	.	.	.	-4.1144	14.2311	0.65892	0.0:0.8507:0.1493:0.0	.	.	.	.	S	223	.	.	P	+	1	0	SYNPO2	120167785	1.000000	0.71417	0.980000	0.43619	0.139000	0.21198	5.235000	0.65348	1.256000	0.44068	-0.310000	0.09108	CCA		0.522	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			4	42	0	0	0	1	0	4	42				
COX6B1	1340	broad.mit.edu	37	19	36145493	36145493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36145493G>A	ENST00000592141.1	+	3	392	c.127G>A	c.(127-129)Gca>Aca	p.A43T	COX6B1_ENST00000392201.1_Missense_Mutation_p.A43T|COX6B1_ENST00000246554.3_Missense_Mutation_p.A43T			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	43					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCAGAAGGCAATGACCGC	0.507																																						ENST00000246554.3																			0				lung(6)|prostate(1)|stomach(1)	8						c.(127-129)Gca>Aca		cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)							188.0	153.0	165.0					19																	36145493		2203	4300	6503	SO:0001583	missense	1340				respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	g.chr19:36145493G>A	BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2280	protein-coding gene	gene with protein product		124089	"""cytochrome c oxidase subunit Vib"", ""cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"""	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.127G>A	19.37:g.36145493G>A	ENSP00000466818:p.Ala43Thr					COX6B1_ENST00000392201.1_Missense_Mutation_p.A43T|COX6B1_ENST00000592141.1_Missense_Mutation_p.A43T	p.A43T	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	319	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		43					B2R5C9|Q6IBL4	Missense_Mutation	SNP	ENST00000592141.1	37	c.127G>A	CCDS12469.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766768	0.31320	.	.	ENSG00000126267	ENST00000246554;ENST00000392201	D	0.82984	-1.67	5.94	4.91	0.64330	.	0.172626	0.50627	D	0.000115	T	0.75874	0.3909	.	.	.	0.80722	D	1	B	0.28258	0.205	B	0.35312	0.2	T	0.69202	-0.5207	9	0.14656	T	0.56	-13.6136	12.7318	0.57203	0.0:0.0:0.8357:0.1643	.	43	P14854	CX6B1_HUMAN	T	43;60	ENSP00000246554:A43T	ENSP00000246554:A43T	A	+	1	0	COX6B1	40837333	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	3.377000	0.52425	1.532000	0.49169	-0.133000	0.14855	GCA		0.507	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863		5	75	0	0	0	1	0	5	75				
ELMO1	9844	broad.mit.edu	37	7	36895277	36895277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36895277G>A	ENST00000310758.4	-	22	2710	c.2063C>T	c.(2062-2064)aCc>aTc	p.T688I	ELMO1_ENST00000396040.2_Missense_Mutation_p.T208I|ELMO1_ENST00000442504.1_Missense_Mutation_p.T688I|ELMO1_ENST00000448602.1_Missense_Mutation_p.T688I|ELMO1_ENST00000341056.3_Missense_Mutation_p.T390I|ELMO1_ENST00000396045.3_Missense_Mutation_p.T208I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	688					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCTGAGCAGGGTGTCCAGGTC	0.572																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(2062-2064)aCc>aTc		engulfment and cell motility 1							176.0	152.0	161.0					7																	36895277		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36895277G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2063C>T	7.37:g.36895277G>A	ENSP00000312185:p.Thr688Ile					ELMO1_ENST00000396045.3_Missense_Mutation_p.T208I|ELMO1_ENST00000341056.3_Missense_Mutation_p.T390I|ELMO1_ENST00000448602.1_Missense_Mutation_p.T688I|ELMO1_ENST00000442504.1_Missense_Mutation_p.T688I|ELMO1_ENST00000396040.2_Missense_Mutation_p.T208I	p.T688I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			22	2710	-			688					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.2063C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432439	0.43224	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	4.77	3.89	0.44902	.	0.060679	0.64402	N	0.000004	T	0.46718	0.1407	L	0.47016	1.485	0.58432	D	0.999999	D	0.58620	0.983	P	0.49361	0.608	T	0.33904	-0.9850	10	0.19590	T	0.45	.	13.3892	0.60813	0.0763:0.0:0.9236:0.0	.	688	Q92556	ELMO1_HUMAN	I	390;208;688;592;208;688;688	ENSP00000342142:T390I;ENSP00000379360:T208I;ENSP00000312185:T688I;ENSP00000379355:T208I;ENSP00000406952:T688I;ENSP00000394458:T688I	ENSP00000312185:T688I	T	-	2	0	ELMO1	36861802	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.860000	0.86993	1.369000	0.46134	0.650000	0.86243	ACC		0.572	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		33	83	0	0	0	1	0	33	83				
FOXL1	2300	broad.mit.edu	37	16	86612430	86612430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:86612430C>T	ENST00000320241.3	+	1	316	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	34					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						GCCTTCGCCCCCGCGGCTGCT	0.697																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(100-102)cCc>cTc		forkhead box L1							28.0	34.0	32.0					16																	86612430		2196	4292	6488	SO:0001583	missense	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612430C>T	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.101C>T	16.37:g.86612430C>T	ENSP00000326272:p.Pro34Leu						p.P34L	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	316	+			34					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.101C>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534406	0.45073	.	.	ENSG00000176678	ENST00000320241	D	0.94931	-3.56	3.89	3.89	0.44902	.	0.165085	0.23191	U	0.050915	D	0.91092	0.7196	N	0.24115	0.695	0.44890	D	0.997907	D	0.60160	0.987	P	0.51229	0.663	D	0.90201	0.4257	10	0.51188	T	0.08	.	8.9366	0.35704	0.0:0.8965:0.0:0.1035	.	34	Q12952	FOXL1_HUMAN	L	34	ENSP00000326272:P34L	ENSP00000326272:P34L	P	+	2	0	FOXL1	85169931	0.988000	0.35896	0.991000	0.47740	0.397000	0.30659	3.630000	0.54273	2.000000	0.58554	0.462000	0.41574	CCC		0.697	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		26	51	0	0	0	1	0	26	51				
FAM92A1	137392	broad.mit.edu	37	8	94713525	94713525	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:94713525T>C	ENST00000518322.1	+	2	241	c.100T>C	c.(100-102)Ttc>Ctc	p.F34L	FAM92A1_ENST00000522324.1_Missense_Mutation_p.F34L|LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000423990.2_Missense_Mutation_p.F34L	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	34										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTGCCAAATCTTCGCTGCCTA	0.468																																						ENST00000518322.1																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(100-102)Ttc>Ctc		family with sequence similarity 92, member A1							63.0	59.0	61.0					8																	94713525		1914	4121	6035	SO:0001583	missense	137392							g.chr8:94713525T>C		CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.100T>C	8.37:g.94713525T>C	ENSP00000429367:p.Phe34Leu					FAM92A1_ENST00000423990.2_Missense_Mutation_p.F34L|FAM92A1_ENST00000522324.1_Missense_Mutation_p.F34L	p.F34L	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		2	241	+	Breast(36;2.4e-06)		34					A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Missense_Mutation	SNP	ENST00000518322.1	37	c.100T>C	CCDS47892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.34|18.34	3.601476|3.601476	0.66445|0.66445	.|.	.|.	ENSG00000188343|ENSG00000188343	ENST00000518322;ENST00000522324;ENST00000522803;ENST00000423990;ENST00000436526;ENST00000341186;ENST00000540007|ENST00000523453	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58133|0.58133	0.2101|0.2101	L|L	0.41124|0.41124	1.26|1.26	0.80722|0.80722	D|D	1|1	B|.	0.22146|.	0.065|.	B|.	0.29663|.	0.105|.	T|T	0.55623|0.55623	-0.8112|-0.8112	10|5	0.06099|.	T|.	0.92|.	-7.0555|-7.0555	14.0683|14.0683	0.64844|0.64844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	34|.	A1XBS5|.	F92A1_HUMAN|.	L|P	34|44	ENSP00000429367:F34L;ENSP00000430069:F34L;ENSP00000428739:F34L;ENSP00000401774:F34L|.	ENSP00000341363:F34L|.	F|L	+|+	1|2	0|0	FAM92A1|FAM92A1	94782701|94782701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.936000|5.936000	0.70153|0.70153	1.968000|1.968000	0.57251|0.57251	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.468	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269		4	24	0	0	0	1	0	4	24				
TRIM15	89870	broad.mit.edu	37	6	30139916	30139916	+	Silent	SNP	C	C	T	rs375289482	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30139916C>T	ENST00000376694.4	+	7	1657	c.1188C>T	c.(1186-1188)tgC>tgT	p.C396C	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	396	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ACCAGCAGTGCTGGGCCAGCA	0.716																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(1186-1188)tgC>tgT		tripartite motif containing 15							13.0	8.0	10.0					6																	30139916		1470	2633	4103	SO:0001819	synonymous_variant	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30139916C>T	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.1188C>T	6.37:g.30139916C>T						TRIM15_ENST00000376688.1_Intron	p.C396C	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			7	1657	+			396			B30.2/SPRY.		A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	c.1188C>T	CCDS4677.1																																																																																				0.716	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		6	10	0	0	0	1	0	6	10				
AMER1	139285	broad.mit.edu	37	X	63412609	63412609	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:63412609C>T	ENST00000330258.3	-	2	830	c.558G>A	c.(556-558)ggG>ggA	p.G186G	AMER1_ENST00000374869.3_Silent_p.G186G|AMER1_ENST00000403336.1_Silent_p.G186G	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	186					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)									TTTGCTCAGCCCCAGTGACCT	0.577																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(556-558)ggG>ggA		APC membrane recruitment protein 1							55.0	49.0	51.0					X																	63412609		2203	4297	6500	SO:0001819	synonymous_variant	139285							g.chrX:63412609C>T	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.558G>A	X.37:g.63412609C>T						AMER1_ENST00000403336.1_Silent_p.G186G|AMER1_ENST00000374869.3_Silent_p.G186G	p.G186G	NM_152424.3	NP_689637.3					2	830	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.558G>A	CCDS14377.2																																																																																				0.577	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		19	59	0	0	0	1	0	19	59				
GTF3C1	2975	broad.mit.edu	37	16	27549247	27549247	+	Splice_Site	SNP	C	C	T	rs563204707		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:27549247C>T	ENST00000356183.4	-	4	625	c.610G>A	c.(610-612)Gtt>Att	p.V204I	GTF3C1_ENST00000561623.1_Splice_Site_p.V204I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	204					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCATCAACCCTGGAGGAA	0.448																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.e4-1		general transcription factor IIIC, polypeptide 1, alpha 220kDa							69.0	68.0	68.0					16																	27549247		2197	4300	6497	SO:0001630	splice_region_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27549247C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.609-1G>A	16.37:g.27549247C>T						GTF3C1_ENST00000561623.1_Splice_Site_p.V204_splice	p.V204_splice	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			4	625	-			204					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Splice_Site	SNP	ENST00000356183.4	37	c.608_splice	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340950	0.60963	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24723	1.84	5.82	5.82	0.92795	.	0.262604	0.37809	N	0.001940	T	0.32406	0.0828	N	0.10874	0.06	0.34052	D	0.656238	P;D	0.71674	0.906;0.998	B;D	0.66084	0.388;0.941	T	0.37731	-0.9693	10	0.30854	T	0.27	-4.136	19.7117	0.96099	0.0:1.0:0.0:0.0	.	204;204	Q12789;Q12789-3	TF3C1_HUMAN;.	I	204;202	ENSP00000348510:V204I	ENSP00000348510:V204I	V	-	1	0	GTF3C1	27456748	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	4.335000	0.59298	2.748000	0.94277	0.655000	0.94253	GTT		0.448	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	Missense_Mutation	28	57	0	0	0	1	0	28	57				
PSAP	5660	broad.mit.edu	37	10	73591673	73591673	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:73591673G>A	ENST00000394936.3	-	3	326	c.179C>T	c.(178-180)tCc>tTc	p.S60F	PSAP_ENST00000394934.1_Missense_Mutation_p.S60F			P07602	SAP_HUMAN	prosaposin	60	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCAGGGAAGGGATTTCTAAGA	0.493																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(178-180)tCc>tTc		prosaposin							136.0	130.0	132.0					10																	73591673		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73591673G>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.179C>T	10.37:g.73591673G>A	ENSP00000378394:p.Ser60Phe					PSAP_ENST00000394934.1_Missense_Mutation_p.S60F	p.S60F			P07602	SAP_HUMAN			3	326	-			60			Saposin B-type 1.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.179C>T	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360144	0.61403	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000394929;ENST00000404083	D;D	0.85171	-1.95;-1.95	5.2	5.2	0.72013	Saposin-like (1);Saposin B (1);	0.395354	0.29594	N	0.011720	D	0.91952	0.7451	M	0.79475	2.455	0.40145	D	0.976889	D	0.89917	1.0	D	0.83275	0.996	D	0.92893	0.6333	10	0.72032	D	0.01	-9.4738	14.7619	0.69612	0.0:0.1881:0.8119:0.0	.	60	P07602	SAP_HUMAN	F	60;60;60;60;60;63	ENSP00000378394:S60F;ENSP00000378392:S60F	ENSP00000350063:S60F	S	-	2	0	PSAP	73261679	1.000000	0.71417	0.996000	0.52242	0.534000	0.34807	4.972000	0.63756	2.594000	0.87642	0.563000	0.77884	TCC		0.493	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		40	65	0	0	0	1	0	40	65				
PSMC5	5705	broad.mit.edu	37	17	61903990	61903990	+	5'Flank	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61903990C>T	ENST00000310144.6	+	0	0				PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000427159.2_Missense_Mutation_p.R37H	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CTGAAAGCGGCGATTGAGCTG	0.572																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(109-111)cGc>cAc		FtsJ homolog 3 (E. coli)							57.0	55.0	56.0					17																	61903990		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61903990C>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903990C>T	Exception_encountered						p.R37H	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			3	755	-			37					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.110G>A	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019117	0.75275	.	.	ENSG00000108592	ENST00000427159	T	0.44083	0.93	5.51	5.51	0.81932	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.78916	2.43	0.58432	D	0.999999	D	0.61080	0.989	D	0.63283	0.913	T	0.67296	-0.5706	10	0.87932	D	0	-4.6844	16.9624	0.86275	0.0:1.0:0.0:0.0	.	37	Q8IY81	RRMJ3_HUMAN	H	37	ENSP00000396673:R37H	ENSP00000396673:R37H	R	-	2	0	FTSJ3	59257722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.808000	0.75206	2.873000	0.98535	0.561000	0.74099	CGC		0.572	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		15	37	0	0	0	1	0	15	37				
C22orf42	150297	broad.mit.edu	37	22	32548570	32548570	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:32548570C>T	ENST00000382097.3	-	3	423	c.351G>A	c.(349-351)gaG>gaA	p.E117E	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	117										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCATATTCTCCTCCACACCGC	0.448																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(349-351)gaG>gaA		chromosome 22 open reading frame 42							42.0	51.0	48.0					22																	32548570		2198	4299	6497	SO:0001819	synonymous_variant	150297							g.chr22:32548570C>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.351G>A	22.37:g.32548570C>T							p.E117E	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			3	423	-			117					A4QPH5	Silent	SNP	ENST00000382097.3	37	c.351G>A	CCDS33639.1																																																																																				0.448	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		24	46	0	0	0	1	0	24	46				
SEL1L2	80343	broad.mit.edu	37	20	13847386	13847386	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:13847386C>T	ENST00000284951.5	-	15	1440	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G456R			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	456						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACTCCTGTTCCTGTTGCATAC	0.403																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1366-1368)Gga>Aga		sel-1 suppressor of lin-12-like 2 (C. elegans)							130.0	124.0	126.0					20																	13847386		1871	4102	5973	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13847386C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1366G>A	20.37:g.13847386C>T	ENSP00000284951:p.Gly456Arg					SEL1L2_ENST00000378072.5_Missense_Mutation_p.G456R|SEL1L2_ENST00000486903.1_5'UTR	p.G456R			Q5TEA6	SE1L2_HUMAN			15	1440	-			456					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1366G>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.050706	0.75960	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.56611	0.45;0.45	6.01	6.01	0.97437	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000006	T	0.75332	0.3835	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76924	-0.2779	10	0.72032	D	0.01	-14.0438	18.015	0.89236	0.0:1.0:0.0:0.0	.	456;456	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	R	456	ENSP00000367312:G456R;ENSP00000284951:G456R	ENSP00000284951:G456R	G	-	1	0	SEL1L2	13795386	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	7.137000	0.77295	2.861000	0.98227	0.650000	0.86243	GGA		0.403	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		20	77	0	0	0	1	0	20	77				
PAK6	56924	broad.mit.edu	37	15	40564563	40564563	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40564563C>T	ENST00000542403.2	+	4	1108	c.997C>T	c.(997-999)Ctc>Ttc	p.L333F	PAK6_ENST00000455577.2_Missense_Mutation_p.L333F|PAK6_ENST00000260404.4_Missense_Mutation_p.L333F|PAK6_ENST00000560346.1_Missense_Mutation_p.L333F|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.L333F|PAK6_ENST00000441369.1_Missense_Mutation_p.L333F	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	333	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCAGAAGTCCCTCCGCACAGC	0.687																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(997-999)Ctc>Ttc		p21 protein (Cdc42/Rac)-activated kinase 6							50.0	57.0	55.0					15																	40564563		2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564563C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.997C>T	15.37:g.40564563C>T	ENSP00000439597:p.Leu333Phe					PAK6_ENST00000453867.1_Missense_Mutation_p.L333F|PAK6_ENST00000260404.4_Missense_Mutation_p.L333F|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.L333F|PAK6_ENST00000542403.2_Missense_Mutation_p.L333F|PAK6_ENST00000441369.1_Missense_Mutation_p.L333F	p.L333F	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	1909	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	333			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.997C>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145766	0.21288	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74106	-0.77;-0.77;-0.81;-0.77;-0.77	4.17	2.28	0.28536	.	0.298622	0.30800	N	0.008850	T	0.55721	0.1938	L	0.27053	0.805	0.42886	D	0.994185	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41251	-0.9519	10	0.10111	T	0.7	.	10.1048	0.42526	0.0:0.8365:0.0:0.1635	.	333;333	Q9NQU5;G5E9R2	PAK6_HUMAN;.	F	333	ENSP00000406873:L333F;ENSP00000401153:L333F;ENSP00000409465:L333F;ENSP00000260404:L333F;ENSP00000439597:L333F	ENSP00000260404:L333F	L	+	1	0	PAK6	38351855	0.997000	0.39634	1.000000	0.80357	0.803000	0.45373	1.264000	0.33015	0.527000	0.28560	0.555000	0.69702	CTC		0.687	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			30	49	0	0	0	1	0	30	49				
BCL2L1	598	broad.mit.edu	37	20	30309713	30309713	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:30309713C>T	ENST00000307677.4	-	2	719	c.309G>A	c.(307-309)cgG>cgA	p.R103R	BCL2L1_ENST00000376055.4_Silent_p.R103R|BCL2L1_ENST00000376062.2_Silent_p.R103R|BCL2L1_ENST00000420653.1_Silent_p.R103R	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	103					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CACTGAATGCCCGCCGGTACC	0.572																																					Colon(51;693 1004 1401 20431 21026)	ENST00000307677.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(307-309)cgG>cgA		BCL2-like 1							101.0	90.0	94.0					20																	30309713		2203	4300	6503	SO:0001819	synonymous_variant	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30309713C>T	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.309G>A	20.37:g.30309713C>T						BCL2L1_ENST00000376062.2_Silent_p.R103R|BCL2L1_ENST00000376055.4_Silent_p.R103R|BCL2L1_ENST00000420653.1_Silent_p.R103R	p.R103R	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		2	719	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		103					E1P5L6|Q5CZ89|Q5TE65|Q92976	Silent	SNP	ENST00000307677.4	37	c.309G>A	CCDS13189.1																																																																																				0.572	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		4	81	0	0	0	1	0	4	81				
DNAH8	1769	broad.mit.edu	37	6	38851207	38851207	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:38851207C>T	ENST00000359357.3	+	53	7714	c.7460C>T	c.(7459-7461)tCt>tTt	p.S2487F	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2704F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2451F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2487	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACTTTTCATCTGCCACAGAA	0.343																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7459-7461)tCt>tTt		dynein, axonemal, heavy chain 8							88.0	90.0	89.0					6																	38851207		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38851207C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7460C>T	6.37:g.38851207C>T	ENSP00000352312:p.Ser2487Phe					DNAH8_ENST00000449981.2_Missense_Mutation_p.S2704F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2451F	p.S2487F							53	7714	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7460C>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.191584	0.78902	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.46063	0.88;0.88;0.88	5.22	5.22	0.72569	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65483	-0.6157	10	0.37606	T	0.19	.	19.1316	0.93410	0.0:1.0:0.0:0.0	.	2487	Q96JB1	DYH8_HUMAN	F	2692;2692;2487;2451	ENSP00000333363:S2692F;ENSP00000352312:S2487F;ENSP00000402294:S2451F	ENSP00000333363:S2692F	S	+	2	0	DNAH8	38959185	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.559000	0.82265	2.589000	0.87451	0.557000	0.71058	TCT		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		48	68	0	0	0	1	0	48	68				
WDR72	256764	broad.mit.edu	37	15	53815451	53815451	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:53815451G>A	ENST00000396328.1	-	19	3456	c.3217C>T	c.(3217-3219)Cct>Tct	p.P1073S	WDR72_ENST00000559418.1_Missense_Mutation_p.P1083S|WDR72_ENST00000557913.1_Missense_Mutation_p.P1070S|WDR72_ENST00000360509.5_Missense_Mutation_p.P1073S|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1073										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CATCTGTCAGGCATGTCCTCC	0.453																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(3217-3219)Cct>Tct		WD repeat domain 72							195.0	187.0	190.0					15																	53815451		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53815451G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3217C>T	15.37:g.53815451G>A	ENSP00000379619:p.Pro1073Ser					WDR72_ENST00000559418.1_Missense_Mutation_p.P1083S|WDR72_ENST00000557913.1_Missense_Mutation_p.P1070S|WDR72_ENST00000360509.5_Missense_Mutation_p.P1073S|WDR72_ENST00000567224.1_5'UTR	p.P1073S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	19	3456	-			1073					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.3217C>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	g	14.29	2.491740	0.44249	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.38240	1.15;1.15	6.17	5.27	0.74061	.	0.197632	0.36338	N	0.002657	T	0.30665	0.0772	L	0.47716	1.5	0.20403	N	0.999902	B	0.32918	0.39	B	0.24701	0.055	T	0.27571	-1.0070	10	0.54805	T	0.06	.	12.8098	0.57634	0.1344:0.0:0.8656:0.0	.	1073	Q3MJ13	WDR72_HUMAN	S	1073	ENSP00000379619:P1073S;ENSP00000353699:P1073S	ENSP00000353699:P1073S	P	-	1	0	WDR72	51602743	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.326000	0.52037	1.644000	0.50603	-0.119000	0.15052	CCT		0.453	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		98	218	0	0	0	1	0	98	218				
NID2	22795	broad.mit.edu	37	14	52481927	52481927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:52481927C>T	ENST00000216286.5	-	15	3094	c.3095G>A	c.(3094-3096)gGc>gAc	p.G1032D	NID2_ENST00000541773.1_Missense_Mutation_p.G931D	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1032	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCGGGGGGTGCCACCGTAGTG	0.622																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(3094-3096)gGc>gAc		nidogen 2 (osteonidogen)							49.0	46.0	47.0					14																	52481927		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481927C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3095G>A	14.37:g.52481927C>T	ENSP00000216286:p.Gly1032Asp					NID2_ENST00000541773.1_Missense_Mutation_p.G931D	p.G1032D	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			15	3094	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1032			Thyroglobulin type-1 2.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.3095G>A	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.10|19.10	3.762231|3.762231	0.69763|0.69763	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	T;T|.	0.65364|.	-0.15;-0.15|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Thyroglobulin type-1 (4);|.	0.090523|.	0.85682|.	D|.	0.000000|.	T|.	0.77438|.	0.4130|.	M|M	0.75085|0.75085	2.285|2.285	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.964;0.997;0.999|.	T|.	0.76222|.	-0.3038|.	10|.	0.49607|.	T|.	0.09|.	.|.	19.3726|19.3726	0.94495|0.94495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	626;931;1034;1032|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	D|X	1032;626;931;1034|300	ENSP00000216286:G1032D;ENSP00000443730:G931D|.	ENSP00000216286:G1032D|.	G|W	-|-	2|3	0|0	NID2|NID2	51551677|51551677	1.000000|1.000000	0.71417|0.71417	0.154000|0.154000	0.22540|0.22540	0.226000|0.226000	0.24999|0.24999	7.410000|7.410000	0.80065|0.80065	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.622	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			8	47	0	0	0	1	0	8	47				
UNC80	285175	broad.mit.edu	37	2	210650893	210650893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:210650893C>T	ENST00000439458.1	+	5	784	c.704C>T	c.(703-705)cCc>cTc	p.P235L	UNC80_ENST00000272845.6_Missense_Mutation_p.P235L|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	235					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CTGGTGAAGCCCATCAGGAAC	0.502																																						ENST00000439458.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.(703-705)cCc>cTc		unc-80 homolog (C. elegans)							113.0	103.0	106.0					2																	210650893		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210650893C>T	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.704C>T	2.37:g.210650893C>T	ENSP00000391088:p.Pro235Leu					UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.P235L	p.P235L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			5	784	+			235					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.704C>T	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487269	0.96323	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.39406	1.08;1.08	5.95	5.95	0.96441	.	0.111075	0.64402	D	0.000008	T	0.64516	0.2605	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.983	T	0.63550	-0.6612	10	0.72032	D	0.01	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	235;235	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	L	235	ENSP00000391088:P235L;ENSP00000272845:P235L	ENSP00000272845:P235L	P	+	2	0	UNC80	210359138	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.818000	0.86416	2.821000	0.97095	0.650000	0.86243	CCC		0.502	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		4	55	0	0	0	1	0	4	55				
IGF2BP3	10643	broad.mit.edu	37	7	23509667	23509667	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:23509667G>A	ENST00000258729.3	-	1	419	c.63C>T	c.(61-63)atC>atT	p.I21I	IGF2BP3_ENST00000491719.1_5'Flank	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	21	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CGTCCTTGAAGATACTTTCTA	0.527																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(61-63)atC>atT		insulin-like growth factor 2 mRNA binding protein 3							78.0	89.0	85.0					7																	23509667		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23509667G>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.63C>T	7.37:g.23509667G>A							p.I21I	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			1	419	-			21			RRM 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.63C>T	CCDS5382.1																																																																																				0.527	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		34	129	0	0	0	1	0	34	129				
BMX	660	broad.mit.edu	37	X	15552421	15552421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:15552421C>T	ENST00000357607.2	+	12	1294	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	BMX_ENST00000348343.6_Missense_Mutation_p.S369F|BMX_ENST00000342014.6_Missense_Mutation_p.S369F			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	369	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGTTTTGATTCCATTCCAAAG	0.338																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1105-1107)tCc>tTc		BMX non-receptor tyrosine kinase							132.0	128.0	129.0					X																	15552421		2203	4297	6500	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15552421C>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1106C>T	X.37:g.15552421C>T	ENSP00000350224:p.Ser369Phe					BMX_ENST00000342014.6_Missense_Mutation_p.S369F|BMX_ENST00000348343.6_Missense_Mutation_p.S369F	p.S369F			P51813	BMX_HUMAN			12	1294	+	Hepatocellular(33;0.183)		369			SH2.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1106C>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562379	0.65538	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.35236	1.32;1.32;1.32	5.07	4.19	0.49359	SH2 motif (5);	0.111377	0.41001	D	0.000977	T	0.72137	0.3423	H	0.97983	4.12	0.38213	D	0.940546	D	0.76494	0.999	D	0.71184	0.972	T	0.83202	-0.0078	10	0.87932	D	0	.	12.661	0.56813	0.1667:0.8333:0.0:0.0	.	369	P51813	BMX_HUMAN	F	369	ENSP00000350224:S369F;ENSP00000308774:S369F;ENSP00000340082:S369F	ENSP00000340082:S369F	S	+	2	0	BMX	15462342	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.629000	0.61290	0.888000	0.36160	0.600000	0.82982	TCC		0.338	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		40	99	0	0	0	1	0	40	99				
ALG12	79087	broad.mit.edu	37	22	50297551	50297551	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50297551G>A	ENST00000330817.6	-	10	1675	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	468					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		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)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTGAAGGGGGGCAGTTGGGTC	0.677																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1402-1404)Ccc>Tcc		ALG12, alpha-1,6-mannosyltransferase							68.0	75.0	72.0					22																	50297551		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50297551G>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1402C>T	22.37:g.50297551G>A	ENSP00000333813:p.Pro468Ser						p.P468S	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	10	1675	-		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)	468					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1402C>T	CCDS14081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555455|4.555455	0.86231|0.86231	.|.	.|.	ENSG00000182858|ENSG00000182858	ENST00000332276|ENST00000330817	.|T	.|0.80909	.|-1.43	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89684|0.89684	0.6786|0.6786	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.71656	.|0.974	D|D	0.90107|0.90107	0.4189|0.4189	6|10	0.87932|0.54805	D|T	0|0.06	-14.3527|-14.3527	18.5784|18.5784	0.91163|0.91163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|468	.|Q9BV10	.|ALG12_HUMAN	V|S	113|468	.|ENSP00000333813:P468S	ENSP00000329560:A113V|ENSP00000333813:P468S	A|P	-|-	2|1	0|0	ALG12|ALG12	48683555|48683555	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.566000|0.566000	0.35808|0.35808	8.260000|8.260000	0.89857|0.89857	2.488000|2.488000	0.83962|0.83962	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.677	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		14	42	0	0	0	1	0	14	42				
MAPKAPK3	7867	broad.mit.edu	37	3	50679137	50679137	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:50679137G>A	ENST00000446044.1	+	6	955		c.e6-1		MAPKAPK3_ENST00000357955.2_Splice_Site	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3						activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTCTTTTACAGCATGGAAGGT	0.542																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.e6-1		mitogen-activated protein kinase-activated protein kinase 3							185.0	159.0	168.0					3																	50679137		2203	4300	6503	SO:0001630	splice_region_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50679137G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.360-1G>A	3.37:g.50679137G>A						MAPKAPK3_ENST00000357955.2_Splice_Site		NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	6	955	+								B5BU67	Splice_Site	SNP	ENST00000446044.1	37		CCDS2832.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993460	0.93167	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8752	0.92332	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPKAPK3	50654141	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.783000	0.99037	2.545000	0.85829	0.655000	0.94253	.		0.542	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635	Intron	17	20	0	0	0	1	0	17	20				
OSBPL9	114883	broad.mit.edu	37	1	52256587	52256587	+	IGR	SNP	C	C	T	rs187758755		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:52256587C>T	ENST00000428468.1	+	0	2893				NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000354831.7_Silent_p.E1080E|NRD1_ENST00000539524.1_Silent_p.E948E|NRD1_ENST00000352171.7_Silent_p.E1012E			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGTTGAATGCCTCTTCAGTGA	0.453																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(3238-3240)gaG>gaA		nardilysin (N-arginine dibasic convertase)							90.0	97.0	95.0					1																	52256587		2203	4300	6503	SO:0001628	intergenic_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52256587C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		1.37:g.52256587C>T						NRD1_ENST00000352171.7_Silent_p.E1012E|NRD1_ENST00000539524.1_Silent_p.E948E|NRD1_ENST00000485608.1_5'UTR	p.E1080E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			30	3429	-			1011					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	37	c.3240G>A	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	6.238	0.412045	0.11812	.	.	ENSG00000078618	ENST00000440943	.	.	.	5.43	-2.58	0.06228	.	.	.	.	.	T	0.41903	0.1179	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	-5.975	3.6838	0.08320	0.1725:0.4738:0.1945:0.1591	.	.	.	.	S	399	.	.	G	-	1	0	NRD1	52029175	0.041000	0.20044	0.975000	0.42487	0.936000	0.57629	-0.783000	0.04638	-0.643000	0.05473	-1.723000	0.00705	GGC		0.453	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			4	41	0	0	0	1	0	4	41				
EHD4	30844	broad.mit.edu	37	15	42193239	42193239	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42193239C>T	ENST00000220325.4	-	6	1313	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	410					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTGCACCAGCTGCGTGGGCG	0.652																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1228-1230)caG>caA		EH-domain containing 4							67.0	59.0	62.0					15																	42193239		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193239C>T	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1230G>A	15.37:g.42193239C>T							p.Q410Q	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1313	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	410					Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1230G>A	CCDS10081.1																																																																																				0.652	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		13	24	0	0	0	1	0	13	24				
TGM6	343641	broad.mit.edu	37	20	2380278	2380278	+	Silent	SNP	G	G	A	rs201331865		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2380278G>A	ENST00000202625.2	+	6	805	c.744G>A	c.(742-744)ccG>ccA	p.P248P	TGM6_ENST00000381423.1_Silent_p.P248P|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	248					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCACCAGCCCGCTGCACTGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		11484	0.001		0.0	False		,,,				2504	0.0					ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(742-744)ccG>ccA		transglutaminase 6	L-Glutamine(DB00130)						59.0	53.0	55.0					20																	2380278		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2380278G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.744G>A	20.37:g.2380278G>A						TGM6_ENST00000381423.1_Silent_p.P248P|TGM6_ENST00000477505.1_3'UTR	p.P248P	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			6	805	+			248					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.744G>A	CCDS13025.1																																																																																				0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		15	39	0	0	0	1	0	15	39				
MTSS1	9788	broad.mit.edu	37	8	125603463	125603463	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:125603463C>T	ENST00000518547.1	-	4	695	c.222G>A	c.(220-222)gaG>gaA	p.E74E	MTSS1_ENST00000325064.5_Silent_p.E74E|MTSS1_ENST00000378017.3_Silent_p.E74E|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	74	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGATCCAATCTCCCTGGTCC	0.502																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(220-222)gaG>gaA		metastasis suppressor 1							138.0	110.0	119.0					8																	125603463		2203	4300	6503	SO:0001819	synonymous_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125603463C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.222G>A	8.37:g.125603463C>T						MTSS1_ENST00000378017.3_Silent_p.E74E|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Silent_p.E74E	p.E74E	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	695	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		74			IMD.		J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	c.222G>A	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	C	2.187	-0.386189	0.04966	.	.	ENSG00000170873	ENST00000522162	.	.	.	5.77	3.75	0.43078	.	.	.	.	.	T	0.48314	0.1493	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	4	.	.	.	-25.9607	4.4898	0.11808	0.0:0.5739:0.0:0.4261	.	.	.	.	K	69	.	.	R	-	2	0	MTSS1	125672644	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	2.459000	0.45023	1.461000	0.47929	-0.157000	0.13467	AGA		0.502	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		13	59	0	0	0	1	0	13	59				
SOGA1	140710	broad.mit.edu	37	20	35443616	35443616	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:35443616C>T	ENST00000357779.3	-	5	1841	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q	SOGA1_ENST00000456801.2_Silent_p.Q346Q|SOGA1_ENST00000237536.4_Silent_p.Q743Q|SOGA1_ENST00000279034.6_Silent_p.Q505Q			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	505					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AGAAGGACTCCTGCTGTTCCT	0.582																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2227-2229)caG>caA		suppressor of glucose, autophagy associated 1							88.0	100.0	96.0					20																	35443616		2164	4266	6430	SO:0001819	synonymous_variant	140710							g.chr20:35443616C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1515G>A	20.37:g.35443616C>T						SOGA1_ENST00000279034.5_Silent_p.Q505Q|SOGA1_ENST00000357779.3_Silent_p.Q505Q|SOGA1_ENST00000456801.2_Silent_p.Q346Q	p.Q743Q	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2570	-			505					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.2229G>A																																																																																					0.582	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		4	132	0	0	0	1	0	4	132				
RBPJL	11317	broad.mit.edu	37	20	43945591	43945591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:43945591C>T	ENST00000343694.3	+	12	1618	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000372743.1_Nonsense_Mutation_p.Q515*|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	516					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTCTTCATCCAGACTTAGGC	0.706																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1546-1548)Cag>Tag		recombination signal binding protein for immunoglobulin kappa J region-like							37.0	47.0	44.0					20																	43945591		2203	4297	6500	SO:0001587	stop_gained	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43945591C>T	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1546C>T	20.37:g.43945591C>T	ENSP00000341243:p.Gln516*					RBPJL_ENST00000372743.1_Nonsense_Mutation_p.Q515*|RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000464504.1_3'UTR	p.Q516*	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			12	1618	+		Myeloproliferative disorder(115;0.0122)	516					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Nonsense_Mutation	SNP	ENST00000343694.3	37	c.1546C>T	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659022	0.96734	.	.	ENSG00000124232	ENST00000372743;ENST00000343694	.	.	.	5.07	5.07	0.68467	.	0.180246	0.36409	N	0.002611	.	.	.	.	.	.	0.30784	N	0.741702	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.6941	15.6743	0.77303	0.0:1.0:0.0:0.0	.	.	.	.	X	515;516	.	ENSP00000341243:Q516X	Q	+	1	0	RBPJL	43379005	1.000000	0.71417	0.992000	0.48379	0.805000	0.45488	5.743000	0.68655	2.362000	0.80069	0.456000	0.33151	CAG		0.706	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		30	67	0	0	0	1	0	30	67				
IFNLR1	163702	broad.mit.edu	37	1	24485545	24485545	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:24485545G>A	ENST00000327535.1	-	6	810	c.798C>T	c.(796-798)gcC>gcT	p.A266A	IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374419.1_Silent_p.A183A|IFNLR1_ENST00000374421.3_Silent_p.A266A	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	266					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GCTATACCAGGGCCCGTGGCA	0.547																																						ENST00000327535.1																			0											c.(796-798)gcC>gcT		interferon, lambda receptor 1							75.0	81.0	79.0					1																	24485545		2203	4300	6503	SO:0001819	synonymous_variant	163702							g.chr1:24485545G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.798C>T	1.37:g.24485545G>A						IFNLR1_ENST00000374421.3_Silent_p.A266A|IFNLR1_ENST00000374419.1_Silent_p.A183A|IFNLR1_ENST00000327575.2_Intron	p.A266A	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					6	810	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	c.798C>T	CCDS248.1																																																																																				0.547	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		4	93	0	0	0	1	0	4	93				
DDX60	55601	broad.mit.edu	37	4	169215096	169215096	+	Splice_Site	SNP	C	C	T	rs146271794		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:169215096C>T	ENST00000393743.3	-	7	1015	c.724G>A	c.(724-726)Gca>Aca	p.A242T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	242					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTCTTGTGTGCCTGTCAAAGA	0.353																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.e7-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	86.0	83.0	84.0		724	1.4	0.2	4	dbSNP_134	84	0,8600		0,0,4300	no	missense-near-splice	DDX60	NM_017631.5	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	242/1713	169215096	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169215096C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.724-1G>A	4.37:g.169215096C>T							p.A242_splice	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	7	1015	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	242					Q6PK35|Q9NVE3	Splice_Site	SNP	ENST00000393743.3	37	c.723_splice	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	6.914	0.538210	0.13188	2.27E-4	0.0	ENSG00000137628	ENST00000393743	T	0.18016	2.24	4.12	1.42	0.22433	.	0.745896	0.11966	N	0.512269	T	0.15739	0.0379	M	0.61703	1.905	0.09310	N	1	P	0.45594	0.862	B	0.38803	0.282	T	0.14896	-1.0456	10	0.30078	T	0.28	.	7.4096	0.27009	0.0:0.6937:0.0:0.3063	.	242	Q8IY21	DDX60_HUMAN	T	242	ENSP00000377344:A242T	ENSP00000377344:A242T	A	-	1	0	DDX60	169451671	0.390000	0.25213	0.215000	0.23724	0.092000	0.18411	0.224000	0.17738	0.521000	0.28445	0.558000	0.71614	GCA		0.353	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	Missense_Mutation	4	42	0	0	0	1	0	4	42				
SLC7A7	9056	broad.mit.edu	37	14	23245041	23245041	+	Splice_Site	SNP	C	C	T	rs386833828		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:23245041C>T	ENST00000397532.3	-	6	1524		c.e6+1		SLC7A7_ENST00000285850.7_Splice_Site|SLC7A7_ENST00000397529.2_Splice_Site|SLC7A7_ENST00000397528.4_Splice_Site|SLC7A7_ENST00000554061.1_Splice_Site|SLC7A7_ENST00000554517.1_Splice_Site|SLC7A7_ENST00000555702.1_Splice_Site			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCCACTCTTACCTAGAAGCAG	0.438																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	GRCh37	CS000228	SLC7A7	S		c.e6+1		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							135.0	139.0	138.0					14																	23245041		2203	4300	6503	SO:0001630	splice_region_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23245041C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.998+1G>A	14.37:g.23245041C>T						SLC7A7_ENST00000555702.1_Splice_Site|SLC7A7_ENST00000285850.7_Splice_Site|SLC7A7_ENST00000554061.1_Splice_Site|SLC7A7_ENST00000554517.1_Splice_Site|SLC7A7_ENST00000397529.2_Splice_Site|SLC7A7_ENST00000397528.4_Splice_Site				Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	6	1524	-	all_cancers(95;8.44e-05)							B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Splice_Site	SNP	ENST00000397532.3	37		CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547778	0.86022	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517;ENST00000556350	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4349	0.94788	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC7A7	22314881	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.468000	0.80943	2.894000	0.99253	0.655000	0.94253	.		0.438	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3		Intron	5	160	0	0	0	1	0	5	160				
MCCC1	56922	broad.mit.edu	37	3	182759505	182759505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:182759505C>T	ENST00000265594.4	-	11	1263	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	MCCC1_ENST00000539926.1_Missense_Mutation_p.E238K|MCCC1_ENST00000492597.1_Missense_Mutation_p.E264K	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	373	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|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)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GTTATTTCTTCCTGGCTCAAA	0.443																																						ENST00000492597.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(790-792)Gaa>Aaa		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						144.0	142.0	142.0					3																	182759505		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182759505C>T	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1117G>A	3.37:g.182759505C>T	ENSP00000265594:p.Glu373Lys					MCCC1_ENST00000265594.4_Missense_Mutation_p.E373K|MCCC1_ENST00000539926.1_Missense_Mutation_p.E238K	p.E264K			Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		10	1492	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		373			ATP-grasp.|Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.790G>A	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953757	0.73902	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.45	5.45	0.79879	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.091491	0.85682	D	0.000000	D	0.95427	0.8515	L	0.46819	1.47	0.80722	D	1	B;B;B	0.18166	0.011;0.011;0.026	B;B;B	0.18263	0.01;0.007;0.021	D	0.92323	0.5867	10	0.46703	T	0.11	.	19.2699	0.94004	0.0:1.0:0.0:0.0	.	326;264;373	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	K	373;264;223;238;326;326	ENSP00000265594:E373K;ENSP00000419898:E264K;ENSP00000441253:E238K;ENSP00000420433:E326K	ENSP00000265594:E373K	E	-	1	0	MCCC1	184242199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.643000	0.67895	2.554000	0.86153	0.557000	0.71058	GAA		0.443	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		25	70	0	0	0	1	0	25	70				
IRS1	3667	broad.mit.edu	37	2	227660749	227660749	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:227660749C>T	ENST00000305123.5	-	1	3726	c.2706G>A	c.(2704-2706)ggG>ggA	p.G902G	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	902					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)			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)		ACTGATCACTCCCAAATTCAA	0.592																																						ENST00000305123.4																			0				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						c.(2704-2706)ggG>ggA		insulin receptor substrate 1							73.0	88.0	83.0					2																	227660749		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660749C>T		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.2706G>A	2.37:g.227660749C>T							p.G902G	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3726	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	902						Silent	SNP	ENST00000305123.5	37	c.2706G>A	CCDS2463.1																																																																																				0.592	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		4	67	0	0	0	1	0	4	67				
ZNF831	128611	broad.mit.edu	37	20	57769361	57769361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57769361C>T	ENST00000371030.2	+	1	3287	c.3287C>T	c.(3286-3288)cCc>cTc	p.P1096L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1096							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCCTGAATCCCTGGGTACCC	0.632																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3286-3288)cCc>cTc		zinc finger protein 831							36.0	39.0	38.0					20																	57769361		1952	4142	6094	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769361C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3287C>T	20.37:g.57769361C>T	ENSP00000360069:p.Pro1096Leu						p.P1096L	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3287	+	all_lung(29;0.0085)		1096					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3287C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928428	0.34002	.	.	ENSG00000124203	ENST00000371030	T	0.05025	3.51	4.75	-0.114	0.13564	.	1.006250	0.07994	N	0.987693	T	0.06554	0.0168	L	0.48642	1.525	0.09310	N	1	B	0.15719	0.014	B	0.15052	0.012	T	0.42120	-0.9470	10	0.87932	D	0	-0.6132	4.0511	0.09796	0.1653:0.495:0.0:0.3397	.	1096	Q5JPB2	ZN831_HUMAN	L	1096	ENSP00000360069:P1096L	ENSP00000360069:P1096L	P	+	2	0	ZNF831	57202756	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.135000	0.15952	0.167000	0.19631	0.609000	0.83330	CCC		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		20	25	0	0	0	1	0	20	25				
SYNGAP1	8831	broad.mit.edu	37	6	33409007	33409007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33409007G>A	ENST00000418600.2	+	12	2072	c.1971G>A	c.(1969-1971)tgG>tgA	p.W657*	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.W657*|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.W598*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	657					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGCTGGAATGGGGTTCCATGC	0.473																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1969-1971)tgG>tgA		synaptic Ras GTPase activating protein 1							153.0	131.0	139.0					6																	33409007		2203	4300	6503	SO:0001587	stop_gained	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33409007G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1971G>A	6.37:g.33409007G>A	ENSP00000403636:p.Trp657*					SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.W598*|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.W657*|SYNGAP1_ENST00000496374.1_3'UTR	p.W657*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			12	2072	+			657					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Nonsense_Mutation	SNP	ENST00000418600.2	37	c.1971G>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	39	7.619647	0.98393	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7048	0.77569	0.0:0.0:1.0:0.0	.	.	.	.	X	657;657;657;598	.	ENSP00000293748:W657X	W	+	3	0	SYNGAP1	33516985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.573000	0.86826	0.655000	0.94253	TGG		0.473	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		5	61	0	0	0	1	0	5	61				
ZAN	7455	broad.mit.edu	37	7	100363075	100363075	+	RNA	SNP	C	C	T	rs565674960		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100363075C>T	ENST00000348028.3	+	0	4533				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_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)				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)			CAGACCGGTGCGTGGAGGCCT	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18042	0.0		0.0	False		,,,				2504	0.0					ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							52.0	55.0	54.0					7																	100363075		2120	4244	6364			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363075C>T	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.100363075C>T						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4516	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	26	0	0	0	1	0	10	26				
PLA2G4F	255189	broad.mit.edu	37	15	42439891	42439891	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42439891C>T	ENST00000382396.4	-	12	1215	c.1129G>A	c.(1129-1131)Gca>Aca	p.A377T	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.A379T			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	377	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGCAACCCTGCCAGGCTGCCG	0.577																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1135-1137)Gca>Aca		phospholipase A2, group IVF							91.0	95.0	94.0					15																	42439891		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439891C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1129G>A	15.37:g.42439891C>T	ENSP00000371833:p.Ala377Thr					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A377T	p.A379T	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1226	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	377			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1135G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999994	0.35320	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.04970	3.52;3.52	5.29	2.22	0.28083	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.270733	0.31859	N	0.006943	T	0.06096	0.0158	L	0.45051	1.395	0.19575	N	0.999962	B;B	0.21071	0.051;0.051	B;B	0.20767	0.03;0.031	T	0.27536	-1.0071	10	0.40728	T	0.16	-7.4363	8.7062	0.34356	0.4463:0.4812:0.0:0.0725	.	164;377	A2RRC4;Q68DD2	.;PA24F_HUMAN	T	373;379;377;377;377	ENSP00000380442:A379T;ENSP00000371833:A377T	ENSP00000290497:A373T	A	-	1	0	PLA2G4F	40227183	0.132000	0.22450	0.997000	0.53966	0.986000	0.74619	0.171000	0.16685	1.424000	0.47217	0.561000	0.74099	GCA		0.577	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		29	68	0	0	0	1	0	29	68				
UBR3	130507	broad.mit.edu	37	2	170885923	170885923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:170885923G>A	ENST00000272793.5	+	31	4571	c.4521G>A	c.(4519-4521)tgG>tgA	p.W1507*	UBR3_ENST00000465630.1_3'UTR|UBR3_ENST00000392631.1_Nonsense_Mutation_p.W328*|UBR3_ENST00000418381.1_Nonsense_Mutation_p.W1507*			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1507					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)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATAATCCCTGGAGAAAGCTCA	0.323																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(4519-4521)tgG>tgA		ubiquitin protein ligase E3 component n-recognin 3 (putative)							86.0	83.0	84.0					2																	170885923		2203	4300	6503	SO:0001587	stop_gained	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170885923G>A	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.4521G>A	2.37:g.170885923G>A	ENSP00000272793:p.Trp1507*					UBR3_ENST00000418381.1_Nonsense_Mutation_p.W1507*|UBR3_ENST00000392631.1_Nonsense_Mutation_p.W328*|UBR3_ENST00000465630.1_3'UTR	p.W1507*			Q6ZT12	UBR3_HUMAN			31	4571	+			1507					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Nonsense_Mutation	SNP	ENST00000272793.5	37	c.4521G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.346005|4.346005	0.82022|0.82022	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000392632|ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	.|.	.|.	.|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.68924|.	0.3054|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69461|.	-0.5139|.	3|.	.|0.29301	.|T	.|0.29	.|.	16.818|16.818	0.85738|0.85738	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	569|1507;1536;1507;328;207	.|.	.|ENSP00000272793:W1507X	G|W	+|+	2|3	0|0	UBR3|UBR3	170594169|170594169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.464000|8.464000	0.90380|0.90380	2.315000|2.315000	0.78130|0.78130	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.323	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		7	60	0	0	0	1	0	7	60				
COBL	23242	broad.mit.edu	37	7	51096997	51096997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:51096997G>A	ENST00000265136.7	-	10	1961	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	COBL_ENST00000395542.2_Missense_Mutation_p.A681V	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	599					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGGGTGCAGGGCAGGTACTTC	0.562																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2041-2043)gCc>gTc		cordon-bleu WH2 repeat protein							78.0	69.0	72.0					7																	51096997		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096997G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1796C>T	7.37:g.51096997G>A	ENSP00000265136:p.Ala599Val					COBL_ENST00000265136.7_Missense_Mutation_p.A599V	p.A681V			O75128	COBL_HUMAN			12	2226	-	Glioma(55;0.08)		599					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2042C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441875	0.43326	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.59	-3.23	0.05109	.	2.209180	0.01981	N	0.044793	T	0.15132	0.0365	N	0.22421	0.69	0.09310	N	1	B;B;B;B;P	0.42248	0.257;0.257;0.289;0.413;0.774	B;B;B;B;B	0.35727	0.074;0.053;0.062;0.131;0.209	T	0.17899	-1.0354	10	0.27082	T	0.32	.	7.2848	0.26333	0.0:0.3177:0.3841:0.2982	.	599;656;599;681;141	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	V	599;491;484;681;97	ENSP00000265136:A599V;ENSP00000401204:A491V;ENSP00000413498:A484V;ENSP00000378912:A681V	ENSP00000265136:A599V	A	-	2	0	COBL	51064491	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.788000	0.04614	-0.864000	0.04078	0.650000	0.86243	GCC		0.562	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		22	67	0	0	0	1	0	22	67				
SART3	9733	broad.mit.edu	37	12	108920035	108920035	+	Silent	SNP	G	G	A	rs569801046		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:108920035G>A	ENST00000228284.3	-	16	2445	c.2211C>T	c.(2209-2211)ccC>ccT	p.P737P	SART3_ENST00000431469.2_Silent_p.P701P	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	737	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TGCTGAAGATGGGTCGGATCT	0.557									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(2209-2211)ccC>ccT		squamous cell carcinoma antigen recognized by T cells 3							106.0	96.0	100.0					12																	108920035		2203	4300	6503	SO:0001819	synonymous_variant	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108920035G>A	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2211C>T	12.37:g.108920035G>A						SART3_ENST00000431469.2_Silent_p.P701P	p.P737P	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			16	2445	-			737			RRM 1.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	ENST00000228284.3	37	c.2211C>T	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	9.638	1.138317	0.21123	.	.	ENSG00000075856	ENST00000412617	.	.	.	5.81	4.9	0.64082	.	.	.	.	.	T	0.60431	0.2268	.	.	.	0.80722	D	1	P	0.40731	0.728	B	0.44044	0.439	T	0.65146	-0.6239	7	0.87932	D	0	-22.7168	14.4944	0.67674	0.0:0.0:0.711:0.289	.	684	E7EMI4	.	Y	684	.	ENSP00000400292:H684Y	H	-	1	0	SART3	107444165	0.872000	0.30054	1.000000	0.80357	0.873000	0.50193	-0.110000	0.10824	1.397000	0.46682	0.655000	0.94253	CAT		0.557	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			7	83	0	0	0	1	0	7	83				
DIP2C	22982	broad.mit.edu	37	10	468806	468806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:468806C>T	ENST00000280886.6	-	5	649	c.562G>A	c.(562-564)Gct>Act	p.A188T	DIP2C_ENST00000381496.3_Missense_Mutation_p.A81T	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	188						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGTGGGCAGCCCCGCTGCCC	0.617																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(562-564)Gct>Act		DIP2 disco-interacting protein 2 homolog C (Drosophila)							72.0	77.0	75.0					10																	468806		2203	4299	6502	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:468806C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.562G>A	10.37:g.468806C>T	ENSP00000280886:p.Ala188Thr					DIP2C_ENST00000381496.3_Missense_Mutation_p.A81T	p.A188T	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	5	649	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	188					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.562G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155139	0.57259	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.32023	1.9;1.47	5.43	5.43	0.79202	.	2.732960	0.02785	N	0.121399	T	0.36880	0.0983	L	0.43152	1.355	0.58432	D	0.999998	B	0.22909	0.077	B	0.23275	0.045	T	0.22034	-1.0228	10	0.19590	T	0.45	-27.403	19.2402	0.93879	0.0:1.0:0.0:0.0	.	188	Q9Y2E4	DIP2C_HUMAN	T	188;81	ENSP00000280886:A188T;ENSP00000370907:A81T	ENSP00000280886:A188T	A	-	1	0	DIP2C	458806	0.848000	0.29623	0.866000	0.34008	0.564000	0.35744	2.536000	0.45693	2.543000	0.85770	0.467000	0.42956	GCT		0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		7	81	0	0	0	1	0	7	81				
UGT2B4	7363	broad.mit.edu	37	4	70361492	70361492	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:70361492G>A	ENST00000305107.6	-	1	134	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P30S|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	30					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AATTCTGTGGGCCACACCAGC	0.463																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(88-90)Ccc>Tcc		UDP glucuronosyltransferase 2 family, polypeptide B4							147.0	149.0	148.0					4																	70361492		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361492G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.88C>T	4.37:g.70361492G>A	ENSP00000305221:p.Pro30Ser					UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P30S	p.P30S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	134	-			30					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.88C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	9.176	1.022407	0.19433	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	T;T;T	0.65178	-0.14;-0.14;-0.14	2.41	1.55	0.23275	.	0.225686	0.30329	U	0.009863	T	0.76997	0.4066	M	0.84683	2.71	0.80722	D	1	D;D	0.63880	0.993;0.973	D;P	0.73708	0.981;0.861	T	0.76594	-0.2902	10	0.72032	D	0.01	.	8.9298	0.35663	0.0:0.2323:0.7676:0.0	.	30;30	G5E9X8;P06133	.;UD2B4_HUMAN	S	30	ENSP00000421290:P30S;ENSP00000305221:P30S;ENSP00000421113:P30S	ENSP00000305221:P30S	P	-	1	0	UGT2B4	70396081	0.998000	0.40836	0.809000	0.32408	0.012000	0.07955	2.623000	0.46435	0.350000	0.24002	-0.672000	0.03802	CCC		0.463	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		66	163	0	0	0	1	0	66	163				
MAN1A2	10905	broad.mit.edu	37	1	117910814	117910814	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:117910814C>T	ENST00000356554.3	+	1	744	c.9C>T	c.(7-9)acC>acT	p.T3T	RP11-188D8.1_ENST00000604156.1_lincRNA|MAN1A2_ENST00000482811.1_3'UTR	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	3					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CGATGACTACCCCAGCCCTGC	0.468																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.(7-9)acC>acT		mannosidase, alpha, class 1A, member 2							82.0	90.0	87.0					1																	117910814		2203	4300	6503	SO:0001819	synonymous_variant	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117910814C>T	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.9C>T	1.37:g.117910814C>T						MAN1A2_ENST00000482811.1_3'UTR	p.T3T	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	1	744	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	3					Q9H510	Silent	SNP	ENST00000356554.3	37	c.9C>T	CCDS895.1																																																																																				0.468	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		48	62	0	0	0	1	0	48	62				
SEMA6D	80031	broad.mit.edu	37	15	48063617	48063617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:48063617G>A	ENST00000316364.5	+	19	3296	c.2857G>A	c.(2857-2859)Gtc>Atc	p.V953I	SEMA6D_ENST00000389428.3_Missense_Mutation_p.V878I|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V891I|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V953I|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V897I|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V891I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V891I|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V934I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V910I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	953					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CACTCCTGGAGTCCCAATGAC	0.483																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2857-2859)Gtc>Atc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							96.0	102.0	100.0					15																	48063617		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063617G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2857G>A	15.37:g.48063617G>A	ENSP00000324857:p.Val953Ile					SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V891I|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V891I|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V934I|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V897I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V910I|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V878I|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V953I|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V891I	p.V953I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3296	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	953					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2857G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122880	0.20959	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16597	2.34;2.33;2.33;2.34;2.34;2.34;2.34;2.34	5.8	5.8	0.92144	.	0.590594	0.18129	N	0.150816	T	0.11324	0.0276	N	0.08118	0	0.80722	D	1	B;B;B;P	0.35226	0.017;0.029;0.009;0.491	B;B;B;B	0.32465	0.012;0.029;0.04;0.146	T	0.33059	-0.9883	10	0.27082	T	0.32	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	878;897;953;891	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	I	891;953;953;934;910;897;891;878	ENSP00000442040:V891I;ENSP00000446152:V953I;ENSP00000324857:V953I;ENSP00000374084:V934I;ENSP00000374083:V910I;ENSP00000346786:V897I;ENSP00000350770:V891I;ENSP00000374079:V878I	ENSP00000324857:V953I	V	+	1	0	SEMA6D	45850909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.363000	0.79516	2.758000	0.94735	0.563000	0.77884	GTC		0.483	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		17	98	0	0	0	1	0	17	98				
SH2B1	25970	broad.mit.edu	37	16	28855624	28855624	+	5'Flank	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28855624C>T	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Silent_p.E283E|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AAATGCCACGCTCTAGTGTAC	0.557																																						ENST00000313511.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(847-849)gaG>gaA		Tu translation elongation factor, mitochondrial							165.0	147.0	153.0					16																	28855624		2197	4300	6497	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28855624C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855624C>T	Exception_encountered						p.E283E	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN			7	987	-			280					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	c.849G>A	CCDS53996.1																																																																																				0.557	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		21	95	0	0	0	1	0	21	95				
C1D	10438	broad.mit.edu	37	2	68274452	68274452	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:68274452C>T	ENST00000355848.3	-	2	39		c.e2-1		C1D_ENST00000410067.3_Splice_Site|C1D_ENST00000407324.1_Splice_Site|C1D_ENST00000409302.1_Intron|C1D_ENST00000470189.2_Splice_Site			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor						apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)			lung(2)|urinary_tract(1)	3						TTATGGCTGACTGGAAAAAAT	0.333																																						ENST00000355848.3																			0				lung(2)|urinary_tract(1)	3						c.e2-1		C1D nuclear receptor corepressor							28.0	30.0	29.0					2																	68274452		2203	4299	6502	SO:0001630	splice_region_variant	10438				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding	g.chr2:68274452C>T		CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223			29911	protein-coding gene	gene with protein product	"""small unique nuclear receptor co-repressor"""	606997	"""C1D nuclear receptor co-repressor"""			9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333		Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000355848.3:c.9-1G>A	2.37:g.68274452C>T						C1D_ENST00000410067.3_Splice_Site|C1D_ENST00000407324.1_Splice_Site|C1D_ENST00000470189.2_Splice_Site|C1D_ENST00000409302.1_Intron				Q13901	C1D_HUMAN			2	39	-								A8K336|D6W5F8|Q05D64	Splice_Site	SNP	ENST00000355848.3	37		CCDS1883.1	.	.	.	.	.	.	.	.	.	.	C	7.293	0.611483	0.14066	.	.	ENSG00000197223	ENST00000407324	.	.	.	4.77	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.26367	N	0.976955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5569	0.12141	0.1602:0.5999:0.1551:0.0848	.	.	.	.	.	-1	.	.	.	-	.	.	C1D	68127956	0.966000	0.33281	0.091000	0.20842	0.042000	0.13812	2.302000	0.43637	1.266000	0.44231	0.491000	0.48974	.		0.333	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3	NM_006333	Intron	7	37	0	0	0	1	0	7	37				
CAND1	55832	broad.mit.edu	37	12	67699396	67699396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:67699396G>A	ENST00000545606.1	+	10	2385	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	650					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGTTCTGGGAGAAGGGGTTCC	0.393																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(1948-1950)Gaa>Aaa		cullin-associated and neddylation-dissociated 1							92.0	96.0	95.0					12																	67699396		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699396G>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1948G>A	12.37:g.67699396G>A	ENSP00000442318:p.Glu650Lys						p.E650K	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2385	+			650					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.1948G>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636171	0.67130	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.50813	0.73;0.73	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.093538	0.64402	D	0.000001	T	0.64136	0.2571	L	0.61036	1.89	0.80722	D	1	D;B	0.63880	0.993;0.168	P;B	0.58577	0.841;0.176	T	0.60037	-0.7341	9	.	.	.	-20.336	20.115	0.97926	0.0:0.0:1.0:0.0	.	482;650	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	K	650;650;190	ENSP00000442318:E650K;ENSP00000444089:E190K	.	E	+	1	0	CAND1	65985663	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.793000	0.99091	2.761000	0.94854	0.650000	0.86243	GAA		0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		38	101	0	0	0	1	0	38	101				
ZNF557	79230	broad.mit.edu	37	19	7076443	7076443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:7076443G>A	ENST00000439035.2	+	5	391	c.151G>A	c.(151-153)Gca>Aca	p.A51T	ZNF557_ENST00000252840.6_Missense_Mutation_p.A58T|ZNF557_ENST00000414706.1_Missense_Mutation_p.A58T			Q8N988	ZN557_HUMAN	zinc finger protein 557	51	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)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GGAGGAGTGGGCATTGCTGGA	0.552																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(172-174)Gca>Aca		zinc finger protein 557							158.0	144.0	149.0					19																	7076443		2203	4300	6503	SO:0001583	missense	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7076443G>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.151G>A	19.37:g.7076443G>A	ENSP00000398965:p.Ala51Thr					ZNF557_ENST00000252840.6_Missense_Mutation_p.A58T|ZNF557_ENST00000439035.2_Missense_Mutation_p.A51T	p.A58T	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	5	645	+			51			KRAB.		Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	c.172G>A	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	.	9.595	1.127166	0.20959	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.01821	4.62;4.62;4.62	1.73	-0.988	0.10245	Krueppel-associated box (4);	.	.	.	.	T	0.00815	0.0027	N	0.11673	0.155	0.20638	N	0.999876	P;P	0.41569	0.755;0.711	B;B	0.31337	0.128;0.079	T	0.49735	-0.8908	9	0.16896	T	0.51	.	4.9519	0.14019	0.0:0.2328:0.5302:0.237	.	51;58	Q8N988;Q8N988-2	ZN557_HUMAN;.	T	58;58;51	ENSP00000252840:A58T;ENSP00000404065:A58T;ENSP00000398965:A51T	ENSP00000252840:A58T	A	+	1	0	ZNF557	7027443	0.590000	0.26815	0.069000	0.20011	0.052000	0.14988	0.545000	0.23268	-0.168000	0.10853	0.313000	0.20887	GCA		0.552	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		10	109	0	0	0	1	0	10	109				
LRRC40	55631	broad.mit.edu	37	1	70618115	70618115	+	Splice_Site	SNP	C	C	T	rs113562787		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:70618115C>T	ENST00000370952.3	-	12	1519		c.e12+1			NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40							membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCAATAAATACCTGAGATCTA	0.289																																						ENST00000370952.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.e12+1		leucine rich repeat containing 40							59.0	58.0	58.0					1																	70618115		2203	4295	6498	SO:0001630	splice_region_variant	55631							g.chr1:70618115C>T		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1439+1G>A	1.37:g.70618115C>T								NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			12	1519	-								Q9BTR7|Q9NSK1|Q9NXC1	Splice_Site	SNP	ENST00000370952.3	37		CCDS646.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806594	0.70682	.	.	ENSG00000066557	ENST00000370952	.	.	.	5.55	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3537	0.66722	0.0:0.9287:0.0:0.0713	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC40	70390703	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.107000	0.71517	1.356000	0.45884	0.650000	0.86243	.		0.289	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	Intron	3	30	0	0	0	1	0	3	30				
CELSR1	9620	broad.mit.edu	37	22	46835291	46835291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46835291C>T	ENST00000262738.3	-	3	4200	c.4201G>A	c.(4201-4203)Gat>Aat	p.D1401N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1401					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.D1401H(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGCGGGCATCCACCTCACAG	0.647																																						ENST00000262738.3																			1	Substitution - Missense(1)	p.D1401H(1)	lung(1)	breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4201-4203)Gat>Aat		cadherin, EGF LAG seven-pass G-type receptor 1							37.0	30.0	32.0					22																	46835291		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46835291C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4201G>A	22.37:g.46835291C>T	ENSP00000262738:p.Asp1401Asn						p.D1401N	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	4200	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1401					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4201G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	6.935	0.542250	0.13250	.	.	ENSG00000075275	ENST00000262738	D	0.87029	-2.2	5.1	4.07	0.47477	.	0.305314	0.28895	N	0.013795	T	0.71151	0.3306	N	0.05534	-0.03	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60357	-0.7279	10	0.13108	T	0.6	.	9.7682	0.40574	0.0:0.0843:0.0:0.9157	.	1401	Q9NYQ6	CELR1_HUMAN	N	1401	ENSP00000262738:D1401N	ENSP00000262738:D1401N	D	-	1	0	CELSR1	45213955	1.000000	0.71417	0.734000	0.30879	0.665000	0.39181	2.023000	0.41040	0.812000	0.34326	-0.367000	0.07326	GAT		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		6	8	0	0	0	1	0	6	8				
EPYC	1833	broad.mit.edu	37	12	91358035	91358035	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:91358035C>T	ENST00000261172.3	-	7	959	c.867G>A	c.(865-867)aaG>aaA	p.K289K		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	289					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CCTCTAGTGCCTTACGAATAT	0.368																																						ENST00000261172.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						c.(865-867)aaG>aaA		epiphycan							137.0	125.0	129.0					12																	91358035		2203	4300	6503	SO:0001819	synonymous_variant	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91358035C>T	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.867G>A	12.37:g.91358035C>T							p.K289K	NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN			7	959	-			289					A8K3M7|Q8NEJ5	Silent	SNP	ENST00000261172.3	37	c.867G>A	CCDS31870.1																																																																																				0.368	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		3	51	0	0	0	1	0	3	51				
OAZ1	4946	broad.mit.edu	37	19	2269685	2269685	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:2269685G>A	ENST00000602676.2	+	1	167	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	JSRP1_ENST00000590976.1_5'Flank|OAZ1_ENST00000588673.2_5'Flank|OAZ1_ENST00000583542.4_Missense_Mutation_p.A30T|OAZ1_ENST00000582888.4_Missense_Mutation_p.A30T|OAZ1_ENST00000322297.4_Missense_Mutation_p.A30T			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	30					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	CACCATCCACGCCAGCCGCAC	0.662																																						ENST00000583542.3																			0				endometrium(1)|lung(2)	3						c.(88-90)Gcc>Acc		ornithine decarboxylase antizyme 1	L-Ornithine(DB00129)						12.0	20.0	18.0					19																	2269685		2067	4212	6279	SO:0001583	missense	4946				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity	g.chr19:2269685G>A		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"""antizyme 1"""	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.88G>A	19.37:g.2269685G>A	ENSP00000473381:p.Ala30Thr					OAZ1_ENST00000582888.3_Missense_Mutation_p.A30T|OAZ1_ENST00000602676.1_Missense_Mutation_p.A30T|OAZ1_ENST00000322297.4_Missense_Mutation_p.A30T	p.A30T			P54368	OAZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	167	+		Hepatocellular(1079;0.137)	30					O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	ENST00000602676.2	37	c.88G>A	CCDS58639.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693918	0.68386	.	.	ENSG00000104904	ENST00000322297	T	0.12672	2.66	3.99	0.412	0.16397	.	1.038830	0.07569	N	0.918276	T	0.07908	0.0198	L	0.36672	1.1	0.25715	N	0.985439	B	0.32382	0.368	B	0.22753	0.041	T	0.37103	-0.9720	10	0.21540	T	0.41	.	1.62	0.02711	0.1904:0.1661:0.4727:0.1709	.	30	P54368	OAZ1_HUMAN	T	30	ENSP00000314813:A30T	ENSP00000314813:A30T	A	+	1	0	OAZ1	2220685	0.977000	0.34250	0.972000	0.41901	0.700000	0.40528	1.937000	0.40193	-0.003000	0.14444	0.561000	0.74099	GCC		0.662	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152		8	11	0	0	0	1	0	8	11				
DOCK2	1794	broad.mit.edu	37	5	169468086	169468086	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:169468086C>T	ENST00000256935.8	+	37	3773	c.3693C>T	c.(3691-3693)caC>caT	p.H1231H	DOCK2_ENST00000520908.1_Silent_p.H723H|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.H292H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1231	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)			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)			GCGATCTTCACCTGGACTGTG	0.512																																						ENST00000256935.8																			0				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						c.(3691-3693)caC>caT		dedicator of cytokinesis 2							144.0	121.0	129.0					5																	169468086		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169468086C>T	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.3693C>T	5.37:g.169468086C>T						DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.H292H|DOCK2_ENST00000520908.1_Silent_p.H723H	p.H1231H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		37	3773	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1231			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3693C>T	CCDS4371.1																																																																																				0.512	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		3	33	0	0	0	1	0	3	33				
PTCHD3	374308	broad.mit.edu	37	10	27702643	27702643	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:27702643C>T	ENST00000438700.3	-	1	654	c.537G>A	c.(535-537)aaG>aaA	p.K179K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	179					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			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						GCCGCTCCGCCTTGGCCGGGC	0.627																																						ENST00000438700.3																			0				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						c.(535-537)aaG>aaA		patched domain containing 3							97.0	108.0	104.0					10																	27702643		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702643C>T	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.537G>A	10.37:g.27702643C>T							p.K179K	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	654	-			179					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.537G>A	CCDS31173.1																																																																																				0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		49	200	0	0	0	1	0	49	200				
CCDC90B	60492	broad.mit.edu	37	11	82984704	82984704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:82984704C>T	ENST00000529689.1	-	7	1014	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	CCDC90B_ENST00000525503.1_Missense_Mutation_p.E93K|CCDC90B_ENST00000529611.1_Missense_Mutation_p.E93K|CCDC90B_ENST00000529073.1_Silent_p.Q182Q|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E185K			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	194						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTTGTAAATTCTGTAGTTGTT	0.284																																						ENST00000529689.1																			0				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(580-582)Gaa>Aaa		coiled-coil domain containing 90B							78.0	78.0	78.0					11																	82984704		2198	4299	6497	SO:0001583	missense	60492					integral to membrane|mitochondrion		g.chr11:82984704C>T	BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.580G>A	11.37:g.82984704C>T	ENSP00000434724:p.Glu194Lys					CCDC90B_ENST00000529611.1_Missense_Mutation_p.E93K|CCDC90B_ENST00000525503.1_Missense_Mutation_p.E93K|CCDC90B_ENST00000529073.1_Silent_p.Q182Q|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E185K	p.E194K			Q9GZT6	CC90B_HUMAN			7	1014	-		Acute lymphoblastic leukemia(157;0.103)	194					A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	ENST00000529689.1	37	c.580G>A	CCDS8266.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248704	0.95305	.	.	ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611;ENST00000527495	T;T;T;T;T	0.46451	1.46;0.87;0.87;0.87;1.63	5.93	5.93	0.95920	.	0.090917	0.85682	D	0.000000	T	0.64843	0.2635	M	0.74647	2.275	0.80722	D	1	D;D	0.62365	0.989;0.991	P;P	0.62560	0.796;0.904	T	0.62134	-0.6918	9	.	.	.	-14.4074	20.3334	0.98727	0.0:1.0:0.0:0.0	.	185;194	Q9GZT6-2;Q9GZT6	.;CC90B_HUMAN	K	194;185;93;93;121	ENSP00000434724:E194K;ENSP00000390990:E185K;ENSP00000431424:E93K;ENSP00000431345:E93K;ENSP00000436974:E121K	.	E	-	1	0	CCDC90B	82662352	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.641000	0.74324	2.818000	0.97014	0.591000	0.81541	GAA		0.284	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	NM_021825		5	46	0	0	0	1	0	5	46				
NRG2	9542	broad.mit.edu	37	5	139235301	139235301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139235301C>T	ENST00000361474.1	-	6	1476	c.1252G>A	c.(1252-1254)Gtc>Atc	p.V418I	NRG2_ENST00000289422.7_Missense_Mutation_p.V426I|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000545385.1_Missense_Mutation_p.V420I|NRG2_ENST00000340391.3_Missense_Mutation_p.V215I|NRG2_ENST00000289409.4_Missense_Mutation_p.V412I|NRG2_ENST00000358522.3_Missense_Mutation_p.V420I|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000541337.1_Missense_Mutation_p.V352I	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	418					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCACGACCAGCAGAGCC	0.602																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1054-1056)Gtc>Atc		neuregulin 2							173.0	152.0	159.0					5																	139235301		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139235301C>T		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1252G>A	5.37:g.139235301C>T	ENSP00000354910:p.Val418Ile					NRG2_ENST00000545385.1_Missense_Mutation_p.V420I|NRG2_ENST00000340391.3_Missense_Mutation_p.V215I|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289409.4_Missense_Mutation_p.V412I|NRG2_ENST00000358522.3_Missense_Mutation_p.V420I|NRG2_ENST00000361474.1_Missense_Mutation_p.V418I|NRG2_ENST00000289422.7_Missense_Mutation_p.V426I	p.V352I	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1283	-			418			EGF-like.			Missense_Mutation	SNP	ENST00000361474.1	37	c.1054G>A	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398726	0.96030	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;2.6;0.18	5.02	5.02	0.67125	Neuregulin 1-related, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.73705	0.3621	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.996;0.998	D;D;D;D	0.85130	0.995;0.997;0.995;0.995	T	0.71978	-0.4429	10	0.34782	T	0.22	-28.2708	18.3286	0.90261	0.0:1.0:0.0:0.0	.	412;418;420;426	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	I	352;426;418;426;420;215;412;420	ENSP00000444235:V352I;ENSP00000289422:V426I;ENSP00000354910:V418I;ENSP00000438753:V420I;ENSP00000342660:V215I;ENSP00000289409:V412I;ENSP00000351323:V420I	ENSP00000289409:V412I	V	-	1	0	NRG2	139215485	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	7.737000	0.84957	2.342000	0.79632	0.462000	0.41574	GTC		0.602	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		23	70	0	0	0	1	0	23	70				
FN1	2335	broad.mit.edu	37	2	216300404	216300404	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216300404G>A	ENST00000359671.1	-	1	387	c.122C>T	c.(121-123)tCc>tTc	p.S41F	FN1_ENST00000346544.3_Missense_Mutation_p.S41F|FN1_ENST00000345488.5_Missense_Mutation_p.S41F|FN1_ENST00000443816.1_Missense_Mutation_p.S41F|FN1_ENST00000357867.4_Missense_Mutation_p.S41F|FN1_ENST00000446046.1_Missense_Mutation_p.S41F|FN1_ENST00000421182.1_Missense_Mutation_p.S41F|FN1_ENST00000426059.1_Missense_Mutation_p.S41F|FN1_ENST00000432072.2_Missense_Mutation_p.S41F|FN1_ENST00000354785.4_Missense_Mutation_p.S41F|FN1_ENST00000323926.6_Missense_Mutation_p.S41F|FN1_ENST00000356005.4_Missense_Mutation_p.S41F|FN1_ENST00000336916.4_Missense_Mutation_p.S41F|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000357009.2_Missense_Mutation_p.S41F			P02751	FINC_HUMAN	fibronectin 1	41					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGCCACCGGGGACTGGGGCTG	0.637																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(121-123)tCc>tTc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						36.0	34.0	35.0					2																	216300404		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216300404G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.122C>T	2.37:g.216300404G>A	ENSP00000352696:p.Ser41Phe					FN1_ENST00000356005.4_Missense_Mutation_p.S41F|FN1_ENST00000359671.1_Missense_Mutation_p.S41F|FN1_ENST00000432072.2_Missense_Mutation_p.S41F|FN1_ENST00000346544.3_Missense_Mutation_p.S41F|FN1_ENST00000323926.6_Missense_Mutation_p.S41F|FN1_ENST00000357867.4_Missense_Mutation_p.S41F|FN1_ENST00000345488.5_Missense_Mutation_p.S41F|FN1_ENST00000443816.1_Missense_Mutation_p.S41F|FN1_ENST00000336916.4_Missense_Mutation_p.S41F|FN1_ENST00000421182.1_Missense_Mutation_p.S41F|FN1_ENST00000446046.1_Missense_Mutation_p.S41F|FN1_ENST00000357009.2_Missense_Mutation_p.S41F|FN1_ENST00000426059.1_Missense_Mutation_p.S41F	p.S41F			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	1	491	-		Renal(323;0.127)	41					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.122C>T		.	.	.	.	.	.	.	.	.	.	G	12.73	2.025192	0.35701	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;2.13;2.32;0.86;2.38;2.02;2.36;2.02;2.32;2.05;1.55;0.85;1.45;1.44	5.56	1.46	0.22682	.	0.605334	0.16387	N	0.216634	T	0.49423	0.1556	L	0.44542	1.39	0.26175	N	0.979816	B;B;P;D;B;B;P;P;B;B;P	0.56035	0.103;0.343;0.837;0.974;0.032;0.005;0.717;0.472;0.032;0.032;0.824	B;B;P;D;B;B;B;B;B;B;P	0.62955	0.052;0.26;0.504;0.909;0.022;0.01;0.35;0.326;0.022;0.022;0.789	T	0.36696	-0.9737	10	0.19147	T	0.46	.	5.8699	0.18797	0.2321:0.0:0.6349:0.133	.	41;41;41;41;41;41;41;41;41;41;41	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	F	41	ENSP00000394423:S41F;ENSP00000323534:S41F;ENSP00000338200:S41F;ENSP00000350534:S41F;ENSP00000346839:S41F;ENSP00000352696:S41F;ENSP00000265312:S41F;ENSP00000273049:S41F;ENSP00000349509:S41F;ENSP00000410422:S41F;ENSP00000415018:S41F;ENSP00000399538:S41F;ENSP00000348285:S41F;ENSP00000398907:S41F	ENSP00000265313:S41F	S	-	2	0	FN1	216008649	0.827000	0.29292	0.076000	0.20297	0.003000	0.03518	0.939000	0.28978	0.215000	0.20761	-0.355000	0.07637	TCC		0.637	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		4	32	0	0	0	1	0	4	32				
NDST3	9348	broad.mit.edu	37	4	119158223	119158223	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:119158223C>T	ENST00000296499.5	+	10	2369	c.1966C>T	c.(1966-1968)Cca>Tca	p.P656S	NDST3_ENST00000433996.2_Missense_Mutation_p.P560L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	656	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCCCAGTCCCATCTAATGT	0.398																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1966-1968)Cca>Tca		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							90.0	89.0	89.0					4																	119158223		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119158223C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1966C>T	4.37:g.119158223C>T	ENSP00000296499:p.Pro656Ser					NDST3_ENST00000433996.2_Missense_Mutation_p.P560L	p.P656S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			10	2369	+			656			Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1966C>T	CCDS3708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.354137|5.354137	0.95830|0.95830	.|.	.|.	ENSG00000164100|ENSG00000164100	ENST00000433996|ENST00000296499	T|D	0.40476|0.82255	1.03|-1.59	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Sulfotransferase domain (1);	0.050175|0.050175	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.90456|0.90456	0.7011|0.7011	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999995|0.999995	B|D	0.17038|0.89917	0.02|1.0	B|D	0.16722|0.97110	0.016|1.0	D|D	0.88401|0.88401	0.3015|0.3015	10|10	0.87932|0.41790	D|T	0|0.15	.|.	20.5666|20.5666	0.99351|0.99351	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	560|656	B4DI67|O95803	.|NDST3_HUMAN	L|S	560|656	ENSP00000396625:P560L|ENSP00000296499:P656S	ENSP00000396625:P560L|ENSP00000296499:P656S	P|P	+|+	2|1	0|0	NDST3|NDST3	119377671|119377671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.653000|5.653000	0.67967|0.67967	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.398	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		17	58	0	0	0	1	0	17	58				
PMM2	5373	broad.mit.edu	37	16	8900196	8900196	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:8900196G>A	ENST00000268261.4	+	4	345	c.279G>A	c.(277-279)gaG>gaA	p.E93E	PMM2_ENST00000569958.1_Intron|PMM2_ENST00000566983.1_Silent_p.E66E|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000539622.1_Silent_p.E10E	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	93			E -> A (in CDG1A). {ECO:0000269|PubMed:12357336}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATCTGGGTGAGGCCCTAATCC	0.398																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4																			0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						c.(277-279)gaG>gaA		phosphomannomutase 2							100.0	98.0	98.0					16																	8900196		2197	4300	6497	SO:0001819	synonymous_variant	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8900196G>A	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.279G>A	16.37:g.8900196G>A						PMM2_ENST00000569958.1_Intron|PMM2_ENST00000539622.1_Silent_p.E10E|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Silent_p.E66E	p.E93E	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN			4	345	+			93		E -> A (in CDG1A).			A8K672|B7Z6R0|D3DUF3	Silent	SNP	ENST00000268261.4	37	c.279G>A	CCDS10536.1																																																																																				0.398	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		35	55	0	0	0	1	0	35	55				
TCF4	6925	broad.mit.edu	37	18	52896233	52896233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:52896233G>A	ENST00000356073.4	-	18	2323	c.1712C>T	c.(1711-1713)gCc>gTc	p.A571V	TCF4_ENST00000566279.1_Missense_Mutation_p.A515V|TCF4_ENST00000568740.1_Missense_Mutation_p.A546V|TCF4_ENST00000537578.1_Missense_Mutation_p.A551V|TCF4_ENST00000564403.2_Missense_Mutation_p.A581V|TCF4_ENST00000457482.3_Missense_Mutation_p.A415V|TCF4_ENST00000566286.1_Missense_Mutation_p.A568V|TCF4_ENST00000570177.2_Missense_Mutation_p.A441V|TCF4_ENST00000544241.2_Missense_Mutation_p.A504V|TCF4_ENST00000561992.1_Missense_Mutation_p.A441V|TCF4_ENST00000540999.1_Missense_Mutation_p.A547V|TCF4_ENST00000354452.3_Missense_Mutation_p.A575V|TCF4_ENST00000564228.1_Missense_Mutation_p.A500V|TCF4_ENST00000564999.1_Missense_Mutation_p.A571V|TCF4_ENST00000537856.3_Missense_Mutation_p.A441V|TCF4_ENST00000565018.2_Missense_Mutation_p.A575V|TCF4_ENST00000543082.1_Missense_Mutation_p.A529V|TCF4_ENST00000567880.1_Missense_Mutation_p.A511V|TCF4_ENST00000398339.1_Missense_Mutation_p.A677V|TCF4_ENST00000561831.3_Missense_Mutation_p.A411V|TCF4_ENST00000568673.1_Missense_Mutation_p.A551V|TCF4_ENST00000570287.2_Missense_Mutation_p.A411V	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	571	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)			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)		ACGCTCTCGGGCATTGTTGGC	0.567																																						ENST00000354452.3																			0				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						c.(1723-1725)gCc>gTc		transcription factor 4							192.0	167.0	175.0					18																	52896233		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52896233G>A	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.1712C>T	18.37:g.52896233G>A	ENSP00000348374:p.Ala571Val					TCF4_ENST00000564999.1_Missense_Mutation_p.A571V|TCF4_ENST00000561992.1_Missense_Mutation_p.A441V|TCF4_ENST00000457482.3_Missense_Mutation_p.A415V|TCF4_ENST00000564403.2_Missense_Mutation_p.A581V|TCF4_ENST00000566279.1_Missense_Mutation_p.A515V|TCF4_ENST00000570177.2_Missense_Mutation_p.A441V|TCF4_ENST00000566286.1_Missense_Mutation_p.A568V|TCF4_ENST00000544241.2_Missense_Mutation_p.A504V|TCF4_ENST00000537578.1_Missense_Mutation_p.A551V|TCF4_ENST00000568740.1_Missense_Mutation_p.A546V|TCF4_ENST00000570287.2_Missense_Mutation_p.A411V|TCF4_ENST00000567880.1_Missense_Mutation_p.A511V|TCF4_ENST00000564228.1_Missense_Mutation_p.A500V|TCF4_ENST00000561831.3_Missense_Mutation_p.A411V|TCF4_ENST00000356073.4_Missense_Mutation_p.A571V|TCF4_ENST00000398339.1_Missense_Mutation_p.A677V|TCF4_ENST00000568673.1_Missense_Mutation_p.A551V|TCF4_ENST00000537856.3_Missense_Mutation_p.A441V|TCF4_ENST00000565018.2_Missense_Mutation_p.A575V|TCF4_ENST00000540999.1_Missense_Mutation_p.A547V|TCF4_ENST00000543082.1_Missense_Mutation_p.A529V	p.A575V	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	18	2335	-			571					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	c.1724C>T	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	36	5.644304	0.96704	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7	5.89	5.89	0.94794	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	M	0.64080	1.96	0.80722	D	1	D;D;D;P;D;D;D;D;P	0.69078	0.987;0.984;0.968;0.935;0.997;0.987;0.987;0.996;0.953	D;P;P;P;D;D;D;D;D	0.77004	0.934;0.891;0.814;0.787;0.989;0.952;0.934;0.98;0.946	D	0.99414	1.0931	10	0.72032	D	0.01	-16.5997	19.0276	0.92939	0.0:0.0:1.0:0.0	.	551;575;411;677;571;529;504;415;568	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	V	575;415;571;529;547;551;504;441;677	ENSP00000346440:A575V;ENSP00000409447:A415V;ENSP00000348374:A571V;ENSP00000439656:A529V;ENSP00000445202:A547V;ENSP00000440731:A551V;ENSP00000441562:A504V;ENSP00000439827:A441V;ENSP00000381382:A677V	ENSP00000346440:A575V	A	-	2	0	TCF4	51047231	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.797000	0.96272	0.563000	0.77884	GCC		0.567	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		55	40	0	0	0	1	0	55	40				
AHNAK	79026	broad.mit.edu	37	11	62291178	62291178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62291178C>T	ENST00000378024.4	-	5	10985	c.10711G>A	c.(10711-10713)Gat>Aat	p.D3571N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3571					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCAGATCCCCTTCAAGT	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10711-10713)Gat>Aat		AHNAK nucleoprotein							151.0	156.0	154.0					11																	62291178		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291178C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10711G>A	11.37:g.62291178C>T	ENSP00000367263:p.Asp3571Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.D3571N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10985	-		Melanoma(852;0.155)	3571					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10711G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.202034	0.79127	.	.	ENSG00000124942	ENST00000378024	T	0.01265	5.08	4.03	4.03	0.46877	.	0.420734	0.24991	N	0.033990	T	0.04227	0.0117	M	0.75777	2.31	0.29021	N	0.886276	P	0.49559	0.925	P	0.49597	0.616	T	0.38650	-0.9651	10	0.14252	T	0.57	-1.7454	16.6795	0.85288	0.0:1.0:0.0:0.0	.	3571	Q09666	AHNK_HUMAN	N	3571	ENSP00000367263:D3571N	ENSP00000367263:D3571N	D	-	1	0	AHNAK	62047754	0.997000	0.39634	0.053000	0.19242	0.977000	0.68977	3.928000	0.56506	2.205000	0.71048	0.453000	0.30009	GAT		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		17	266	0	0	0	1	0	17	266				
LRPPRC	10128	broad.mit.edu	37	2	44139612	44139612	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:44139612C>A	ENST00000260665.7	-	30	3291	c.3234G>T	c.(3232-3234)atG>atT	p.M1078I		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1078					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATCTTCTGACATCAGTAATT	0.323																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(3232-3234)atG>atT		leucine-rich pentatricopeptide repeat containing							118.0	114.0	115.0					2																	44139612		2202	4297	6499	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44139612C>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3234G>T	2.37:g.44139612C>A	ENSP00000260665:p.Met1078Ile						p.M1078I	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			30	3291	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1078					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.3234G>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998997	0.35226	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.12569	2.67	5.61	5.61	0.85477	.	0.080788	0.49305	D	0.000157	T	0.06371	0.0164	N	0.03608	-0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.26573	-1.0099	10	0.49607	T	0.09	-9.2754	8.8844	0.35394	0.1502:0.7731:0.0:0.0766	.	978;1078	F5H4J6;P42704	.;LPPRC_HUMAN	I	978;1078	ENSP00000260665:M1078I	ENSP00000260665:M1078I	M	-	3	0	LRPPRC	43993116	0.990000	0.36364	0.072000	0.20136	0.004000	0.04260	3.165000	0.50778	2.649000	0.89929	0.655000	0.94253	ATG		0.323	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		11	50	1	0	1.58986e-06	1	1.59518e-06	11	50				
CWC25	54883	broad.mit.edu	37	17	36963098	36963098	+	Silent	SNP	C	C	T	rs201765128		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:36963098C>T	ENST00000225428.5	-	7	1119	c.822G>A	c.(820-822)aaG>aaA	p.K274K	CWC25_ENST00000536127.1_Silent_p.K211K	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	274										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCCTGGTGCTCTTCTTGCTGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		15831	0.001		0.0	False		,,,				2504	0.0					ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(820-822)aaG>aaA		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							85.0	83.0	83.0					17																	36963098		1959	4150	6109	SO:0001819	synonymous_variant	54883							g.chr17:36963098C>T	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.822G>A	17.37:g.36963098C>T						CWC25_ENST00000536127.1_Silent_p.K211K	p.K274K	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			7	1119	-			274					A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	c.822G>A	CCDS45663.1																																																																																				0.582	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		20	31	0	0	0	1	0	20	31				
NONO	4841	broad.mit.edu	37	X	70514272	70514272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70514272G>A	ENST00000276079.8	+	5	749	c.544G>A	c.(544-546)Gat>Aat	p.D182N	NONO_ENST00000535149.1_Missense_Mutation_p.D93N|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.D182N|NONO_ENST00000373841.1_Missense_Mutation_p.D182N	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	182	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGTCATTGTGGATGATCGAGG	0.512			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(277-279)Gat>Aat		non-POU domain containing, octamer-binding							99.0	76.0	84.0					X																	70514272		2203	4297	6500	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514272G>A	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.544G>A	X.37:g.70514272G>A	ENSP00000276079:p.Asp182Asn					NONO_ENST00000373856.3_Missense_Mutation_p.D182N|NONO_ENST00000276079.8_Missense_Mutation_p.D182N|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.D182N	p.D93N	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			3	920	+	Renal(35;0.156)		182			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.277G>A	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	31|31	5.098029|5.098029	0.94197|0.94197	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000454976|ENST00000418921	T;T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93;1.93|.	4.87|4.87	4.87|4.87	0.63330|0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72645|.	0.3486|.	M|M	0.65320|0.65320	2|2	0.80722|0.80722	D|D	1|1	P|.	0.49447|.	0.924|.	P|.	0.50754|.	0.649|.	T|.	0.72304|.	-0.4333|.	10|.	0.62326|.	D|.	0.03|.	-13.4805|-13.4805	17.3063|17.3063	0.87196|0.87196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	182|.	Q15233|.	NONO_HUMAN|.	N|X	93;182;182;182;182|43	ENSP00000441364:D93N;ENSP00000276079:D182N;ENSP00000362963:D182N;ENSP00000362947:D182N;ENSP00000406673:D182N|.	ENSP00000276079:D182N|.	D|W	+|+	1|3	0|0	NONO|NONO	70430997|70430997	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.428000|9.428000	0.97476|0.97476	2.269000|2.269000	0.75478|0.75478	0.529000|0.529000	0.55759|0.55759	GAT|TGG		0.512	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		12	49	0	0	0	1	0	12	49				
GABRQ	55879	broad.mit.edu	37	X	151818256	151818256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:151818256C>T	ENST00000370306.2	+	6	682	c.662C>T	c.(661-663)gCc>gTc	p.A221V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	221					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)			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)	AATGGGAACGCCATCCACATG	0.463																																						ENST00000370306.2																			0				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						c.(661-663)gCc>gTc		gamma-aminobutyric acid (GABA) A receptor, theta							191.0	148.0	162.0					X																	151818256		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151818256C>T	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.662C>T	X.37:g.151818256C>T	ENSP00000359329:p.Ala221Val						p.A221V	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			6	682	+	Acute lymphoblastic leukemia(192;6.56e-05)		221					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.662C>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198803	0.58126	.	.	ENSG00000147402	ENST00000370306	T	0.79352	-1.26	5.82	4.95	0.65309	Neurotransmitter-gated ion-channel ligand-binding (3);	0.135118	0.34507	N	0.003908	D	0.82388	0.5026	L	0.37750	1.13	0.47621	D	0.999471	D	0.89917	1.0	D	0.77004	0.989	D	0.83900	0.0289	10	0.87932	D	0	.	13.4324	0.61064	0.0:0.8457:0.1543:0.0	.	221	Q9UN88	GBRT_HUMAN	V	221	ENSP00000359329:A221V	ENSP00000359329:A221V	A	+	2	0	GABRQ	151568912	1.000000	0.71417	0.029000	0.17559	0.027000	0.11550	5.910000	0.69931	1.185000	0.42971	0.600000	0.82982	GCC		0.463	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		12	99	0	0	0	1	0	12	99				
TNRC6A	27327	broad.mit.edu	37	16	24828136	24828136	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:24828136G>A	ENST00000395799.3	+	20	4960		c.e20-1		CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Splice_Site|TNRC6A_ENST00000315183.7_Splice_Site	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A						cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCCGTTTCCAGAATTTCGTCC	0.348																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.e20-1		trinucleotide repeat containing 6A							97.0	95.0	95.0					16																	24828136		2197	4300	6497	SO:0001630	splice_region_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24828136G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4832-1G>A	16.37:g.24828136G>A						CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Splice_Site|TNRC6A_ENST00000315183.7_Splice_Site		NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	20	4960	+								C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Splice_Site	SNP	ENST00000395799.3	37		CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180016	0.78564	.	.	ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000450465;ENST00000432286	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNRC6A	24735637	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.414000	0.97362	2.687000	0.91594	0.655000	0.94253	.		0.348	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	Intron	6	105	0	0	0	1	0	6	105				
TEP1	7011	broad.mit.edu	37	14	20849755	20849755	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:20849755C>T	ENST00000262715.5	-	31	4555	c.4515G>A	c.(4513-4515)ggG>ggA	p.G1505G	TEP1_ENST00000556935.1_Silent_p.G1397G|TEP1_ENST00000545983.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1505					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCCTCTTCCCATAGCAAC	0.632																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(4513-4515)ggG>ggA		telomerase-associated protein 1							146.0	130.0	135.0					14																	20849755		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20849755C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4515G>A	14.37:g.20849755C>T						TEP1_ENST00000556935.1_Silent_p.G1397G|TEP1_ENST00000545983.1_Intron	p.G1505G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	31	4555	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1505					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.4515G>A	CCDS9548.1																																																																																				0.632	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		26	81	0	0	0	1	0	26	81				
ADCK2	90956	broad.mit.edu	37	7	140374517	140374517	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:140374517C>T	ENST00000072869.4	+	2	1218	c.1040C>T	c.(1039-1041)cCt>cTt	p.P347L	ADCK2_ENST00000476491.1_Missense_Mutation_p.P347L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	347	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTTAGCTTGCCTGAGATTGTG	0.522																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1039-1041)cCt>cTt		aarF domain containing kinase 2							128.0	109.0	116.0					7																	140374517		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140374517C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1040C>T	7.37:g.140374517C>T	ENSP00000072869:p.Pro347Leu					ADCK2_ENST00000476491.1_Missense_Mutation_p.P347L	p.P347L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			2	1218	+	Melanoma(164;0.00956)		347			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.1040C>T	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314101	0.60414	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.53640	0.61;0.61	5.61	5.61	0.85477	ABC-1 (1);	0.312152	0.32357	N	0.006202	T	0.52386	0.1731	M	0.78637	2.42	0.54753	D	0.999988	B;B	0.18013	0.014;0.025	B;B	0.16722	0.016;0.016	T	0.50448	-0.8827	10	0.18710	T	0.47	-32.8363	19.9959	0.97383	0.0:1.0:0.0:0.0	.	347;347	C9JE15;Q7Z695	.;ADCK2_HUMAN	L	347	ENSP00000072869:P347L;ENSP00000420512:P347L	ENSP00000072869:P347L	P	+	2	0	ADCK2	140020986	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.780000	0.55386	2.808000	0.96608	0.655000	0.94253	CCT		0.522	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		4	56	0	0	0	1	0	4	56				
KDM5A	5927	broad.mit.edu	37	12	430171	430171	+	Missense_Mutation	SNP	C	C	T	rs370349922		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:430171C>T	ENST00000399788.2	-	18	2893	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.R844Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	844					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTTACTTGCCGAGCTTGGCT	0.438			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(2530-2532)cGg>cAg		lysine (K)-specific demethylase 5A		C	GLN/ARG	0,3826		0,0,1913	169.0	171.0	170.0		2531	5.8	1.0	12		170	1,8249		0,1,4124	no	missense	KDM5A	NM_001042603.1	43	0,1,6037	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	844/1691	430171	1,12075	1913	4125	6038	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:430171C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2531G>A	12.37:g.430171C>T	ENSP00000382688:p.Arg844Gln					KDM5A_ENST00000382815.4_Missense_Mutation_p.R844Q	p.R844Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			18	2893	-			844					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.2531G>A	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169812	0.57584	0.0	1.21E-4	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.41065	1.01;1.01;1.01	5.75	5.75	0.90469	Lysine-specific demethylase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	N	0.25647	0.755	0.45733	D	0.998639	P;P;D	0.60160	0.896;0.68;0.987	P;B;P	0.53450	0.519;0.19;0.726	T	0.10989	-1.0606	10	0.18710	T	0.47	-9.869	19.9434	0.97174	0.0:1.0:0.0:0.0	.	844;844;844	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	Q	463;803;844;844;463	ENSP00000382688:R844Q;ENSP00000372265:R844Q;ENSP00000440622:R463Q	ENSP00000261253:R463Q	R	-	2	0	KDM5A	300432	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.557000	0.53741	2.710000	0.92621	0.563000	0.77884	CGG		0.438	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		39	108	0	0	0	1	0	39	108				
ZFP36	7538	broad.mit.edu	37	19	39898411	39898411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39898411C>T	ENST00000248673.3	+	2	111	c.53C>T	c.(52-54)cCc>cTc	p.P18L	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.P24L|ZFP36_ENST00000594045.1_3'UTR	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	18					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTGACGTGCCCGTGCCATCC	0.672																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(70-72)cCc>cTc		ZFP36 ring finger protein							96.0	107.0	103.0					19																	39898411		2202	4298	6500	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898411C>T	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.53C>T	19.37:g.39898411C>T	ENSP00000248673:p.Pro18Leu					ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000248673.3_Missense_Mutation_p.P18L	p.P24L			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	145	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		18					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.71C>T		.	.	.	.	.	.	.	.	.	.	C	2.592	-0.295020	0.05532	.	.	ENSG00000128016	ENST00000248673	T	0.17213	2.29	0.217	0.217	0.15264	.	1.500950	0.06376	U	0.714338	T	0.18257	0.0438	N	0.19112	0.55	0.19300	N	0.999977	P	0.48350	0.909	P	0.52909	0.713	T	0.31916	-0.9926	9	0.66056	D	0.02	.	.	.	.	.	18	P26651	TTP_HUMAN	L	18	ENSP00000248673:P18L	ENSP00000248673:P18L	P	+	2	0	ZFP36	44590251	0.001000	0.12720	0.184000	0.23157	0.078000	0.17371	0.305000	0.19254	0.292000	0.22492	0.297000	0.19635	CCC		0.672	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				20	145	0	0	0	1	0	20	145				
LMO7	4008	broad.mit.edu	37	13	76427406	76427406	+	Missense_Mutation	SNP	C	C	T	rs373867452		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:76427406C>T	ENST00000321797.8	+	26	4565	c.3844C>T	c.(3844-3846)Ccc>Tcc	p.P1282S	LMO7_ENST00000341547.4_Missense_Mutation_p.P1233S|LMO7_ENST00000377534.3_Missense_Mutation_p.P1567S|LMO7_ENST00000357063.3_Missense_Mutation_p.P1567S|LMO7_ENST00000526202.1_Missense_Mutation_p.P1159S|LMO7_ENST00000465261.2_Missense_Mutation_p.P1282S			Q8WWI1	LMO7_HUMAN	LIM domain 7	1567					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTCCAGCGTGCCCCCACCTTC	0.592																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4699-4701)Ccc>Tcc		LIM domain 7		C	SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	66.0	53.0	57.0		3697,3844	2.1	0.0	13		57	0,8600		0,0,4300	no	missense,missense	LMO7	NM_005358.5,NM_015842.2	74,74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1233/1350,1282/1386	76427406	1,13005	2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76427406C>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3844C>T	13.37:g.76427406C>T	ENSP00000317802:p.Pro1282Ser					LMO7_ENST00000526202.1_Missense_Mutation_p.P1159S|LMO7_ENST00000377534.3_Missense_Mutation_p.P1567S|LMO7_ENST00000465261.2_Missense_Mutation_p.P1282S|LMO7_ENST00000341547.4_Missense_Mutation_p.P1233S|LMO7_ENST00000321797.8_Missense_Mutation_p.P1282S	p.P1567S			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	29	5959	+		Breast(118;0.0992)	1567					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.4699C>T		.	.	.	.	.	.	.	.	.	.	C	17.31	3.358373	0.61403	2.27E-4	0.0	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.02	2.09	0.27110	.	0.679637	0.14347	N	0.325361	T	0.47857	0.1468	M	0.72118	2.19	0.09310	N	1	B;P;P	0.44195	0.437;0.573;0.828	B;B;B	0.36666	0.081;0.23;0.22	T	0.49744	-0.8907	10	0.59425	D	0.04	-9.2209	17.362	0.87353	0.0:0.5213:0.4787:0.0	.	1159;1233;1282	E9PMS6;Q8WWI1-3;E9PLH4	.;.;.	S	1233;1567;1567;1282;1159;1282	ENSP00000342112:P1233S;ENSP00000349571:P1567S;ENSP00000366757:P1567S;ENSP00000317802:P1282S;ENSP00000431129:P1159S;ENSP00000433352:P1282S	ENSP00000317802:P1282S	P	+	1	0	LMO7	75325407	0.055000	0.20627	0.026000	0.17262	0.216000	0.24613	2.071000	0.41500	0.641000	0.30601	0.555000	0.69702	CCC		0.592	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		19	24	0	0	0	1	0	19	24				
ATP6V0A4	50617	broad.mit.edu	37	7	138394416	138394416	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:138394416C>T	ENST00000310018.2	-	21	2664	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	ATP6V0A4_ENST00000353492.4_Silent_p.L794L|ATP6V0A4_ENST00000393054.1_Silent_p.L794L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	794					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTCCATGATCAGAAGGATGG	0.547																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2380-2382)ctG>ctA		ATPase, H+ transporting, lysosomal V0 subunit a4							176.0	173.0	174.0					7																	138394416		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394416C>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2382G>A	7.37:g.138394416C>T						ATP6V0A4_ENST00000393054.1_Silent_p.L794L|ATP6V0A4_ENST00000353492.4_Silent_p.L794L	p.L794L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2664	-			794					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.2382G>A	CCDS5849.1																																																																																				0.547	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		8	273	0	0	0	1	0	8	273				
CNTN3	5067	broad.mit.edu	37	3	74350824	74350824	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:74350824G>A	ENST00000263665.6	-	14	1946	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	640	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAACCCACGGAGAAAGGTGT	0.453																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1918-1920)tCc>tTc		contactin 3 (plasmacytoma associated)							171.0	159.0	163.0					3																	74350824		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350824G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1919C>T	3.37:g.74350824G>A	ENSP00000263665:p.Ser640Phe						p.S640F	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	14	1946	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	640			Fibronectin type-III 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1919C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190405	0.78789	.	.	ENSG00000113805	ENST00000263665	T	0.59364	0.27	5.98	5.11	0.69529	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.170743	0.53938	D	0.000060	T	0.71358	0.3330	M	0.91459	3.21	0.58432	D	0.999996	B	0.18013	0.025	B	0.34301	0.179	T	0.73288	-0.4030	10	0.66056	D	0.02	.	15.2108	0.73222	0.0673:0.0:0.9327:0.0	.	640	Q9P232	CNTN3_HUMAN	F	640	ENSP00000263665:S640F	ENSP00000263665:S640F	S	-	2	0	CNTN3	74433514	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.107000	0.94261	1.537000	0.49254	0.591000	0.81541	TCC		0.453	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		14	71	0	0	0	1	0	14	71				
ZNF878	729747	broad.mit.edu	37	19	12155262	12155262	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12155262C>T	ENST00000547628.1	-	4	1091	c.954G>A	c.(952-954)aaG>aaA	p.K318K	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Silent_p.K365K	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAATAAATCCCTTACCACATA	0.393																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1093-1095)aaG>aaA		zinc finger protein 878							80.0	88.0	86.0					19																	12155262		2175	4282	6457	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155262C>T		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.954G>A	19.37:g.12155262C>T						CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Silent_p.K318K|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	p.K365K			C9JN71	ZN878_HUMAN			5	1094	-			318						Silent	SNP	ENST00000547628.1	37	c.1095G>A	CCDS45984.2																																																																																				0.393	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		17	112	0	0	0	1	0	17	112				
C3orf58	205428	broad.mit.edu	37	3	143704614	143704614	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:143704614G>A	ENST00000315691.3	+	2	1422	c.887G>A	c.(886-888)gGt>gAt	p.G296D	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.G58D|C3orf58_ENST00000495414.1_Missense_Mutation_p.G87D	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	296					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTGCAGTTGGTCCTAGAGAT	0.353																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(886-888)gGt>gAt		chromosome 3 open reading frame 58							155.0	140.0	145.0					3																	143704614		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143704614G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.887G>A	3.37:g.143704614G>A	ENSP00000320081:p.Gly296Asp					C3orf58_ENST00000495414.1_Missense_Mutation_p.G87D|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.G58D	p.G296D	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			2	1422	+			296					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.887G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.240031	0.22711	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.27402	1.67	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.29908	0.895	0.80722	D	1	B;D	0.89917	0.041;1.0	B;D	0.83275	0.014;0.996	T	0.13124	-1.0521	10	0.13853	T	0.58	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	87;296	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	D	296;87;102;58	ENSP00000320081:G296D	ENSP00000320081:G296D	G	+	2	0	C3orf58	145187304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GGT		0.353	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		44	29	0	0	0	1	0	44	29				
ZNF286B	729288	broad.mit.edu	37	17	18565339	18565339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:18565339G>A	ENST00000545289.1	-	5	1730	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						CATCTAAAGGGTTTCTCTCCG	0.388																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(1480-1482)Ccc>Tcc		zinc finger protein 286B							84.0	85.0	85.0					17																	18565339		692	1591	2283	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565339G>A		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1480C>T	17.37:g.18565339G>A	ENSP00000461413:p.Pro494Ser						p.P494S	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	1730	-			494						Missense_Mutation	SNP	ENST00000545289.1	37	c.1480C>T	CCDS58523.1																																																																																				0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		9	62	0	0	0	1	0	9	62				
PPP1R3F	89801	broad.mit.edu	37	X	49138527	49138527	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:49138527G>A	ENST00000055335.6	+	3	1159		c.e3+1		PPP1R3F_ENST00000495799.1_Splice_Site|PPP1R3F_ENST00000438316.1_Splice_Site|PPP1R3F_ENST00000376188.1_Splice_Site|PPP1R3F_ENST00000466508.1_Splice_Site	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F						regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GACACTTCAGGTAAGTGGGTC	0.592																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.e3+1		protein phosphatase 1, regulatory subunit 3F							90.0	62.0	72.0					X																	49138527		2203	4300	6503	SO:0001630	splice_region_variant	89801					integral to membrane		g.chrX:49138527G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1143+1G>A	X.37:g.49138527G>A						PPP1R3F_ENST00000495799.1_Splice_Site|PPP1R3F_ENST00000466508.1_Splice_Site|PPP1R3F_ENST00000438316.1_Splice_Site|PPP1R3F_ENST00000376188.1_Splice_Site		NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			3	1159	+	Ovarian(276;0.236)							A2VDJ8|B3KPW2|E9PCM3	Splice_Site	SNP	ENST00000055335.6	37		CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287363	0.40494	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000471261;ENST00000376188	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1751	0.42933	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP1R3F	49025471	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.817000	0.55668	2.155000	0.67459	0.529000	0.55759	.		0.592	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	Intron	3	18	0	0	0	1	0	3	18				
GPRASP1	9737	broad.mit.edu	37	X	101908937	101908937	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:101908937C>T	ENST00000361600.5	+	5	897	c.96C>T	c.(94-96)gtC>gtT	p.V32V	GPRASP1_ENST00000444152.1_Silent_p.V32V|GPRASP1_ENST00000415986.1_Silent_p.V32V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Silent_p.V32V	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	32					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAATGATGTCCCTCTGGTGG	0.547																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(94-96)gtC>gtT		G protein-coupled receptor associated sorting protein 1							147.0	146.0	146.0					X																	101908937		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101908937C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.96C>T	X.37:g.101908937C>T						GPRASP1_ENST00000444152.1_Silent_p.V32V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.V32V|GPRASP1_ENST00000361600.5_Silent_p.V32V	p.V32V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	909	+			32					O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.96C>T	CCDS35352.1																																																																																				0.547	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		9	178	0	0	0	1	0	9	178				
ZNF554	115196	broad.mit.edu	37	19	2832405	2832405	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:2832405C>T	ENST00000317243.5	+	4	556	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	ZNF554_ENST00000591265.1_Missense_Mutation_p.L120F	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	120	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.L120fs*18(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		GGGGTATTTACTTTTTCAACC	0.478																																						ENST00000317243.5																			1	Deletion - Frameshift(1)	p.L120fs*18(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(358-360)Ctt>Ttt		zinc finger protein 554							149.0	148.0	148.0					19																	2832405		1877	4105	5982	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2832405C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.358C>T	19.37:g.2832405C>T	ENSP00000321132:p.Leu120Phe					ZNF554_ENST00000591265.1_Missense_Mutation_p.L120F	p.L120F	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	556	+		Hepatocellular(1079;0.137)	120			KRAB.		Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.358C>T	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	C	7.989	0.752922	0.15778	.	.	ENSG00000172006	ENST00000317243	T	0.08458	3.09	2.51	1.32	0.21799	Krueppel-associated box (1);	.	.	.	.	T	0.08358	0.0208	N	0.12746	0.255	0.09310	N	1	D	0.69078	0.997	D	0.64042	0.921	T	0.28073	-1.0055	9	0.08837	T	0.75	.	6.2435	0.20803	0.0:0.6391:0.3609:0.0	.	120	Q86TJ5	ZN554_HUMAN	F	120	ENSP00000321132:L120F	ENSP00000321132:L120F	L	+	1	0	ZNF554	2783405	0.000000	0.05858	0.005000	0.12908	0.007000	0.05969	-0.154000	0.10130	1.256000	0.44068	0.423000	0.28283	CTT		0.478	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		42	73	0	0	0	1	0	42	73				
ZNF175	7728	broad.mit.edu	37	19	52085093	52085093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52085093C>T	ENST00000262259.2	+	4	611	c.253C>T	c.(253-255)Ccg>Tcg	p.P85S	ZNF175_ENST00000436511.2_Missense_Mutation_p.P85S	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGAAAAGGAGCCGCGTGTGGA	0.453																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(253-255)Ccg>Tcg		zinc finger protein 175							84.0	77.0	79.0					19																	52085093		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52085093C>T	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.253C>T	19.37:g.52085093C>T	ENSP00000262259:p.Pro85Ser					ZNF175_ENST00000436511.2_Missense_Mutation_p.P85S	p.P85S	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	4	611	+		all_neural(266;0.0299)	85			KRAB.		A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.253C>T	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	C	1.177	-0.639366	0.03557	.	.	ENSG00000105497	ENST00000262259;ENST00000436511	T;T	0.11604	2.76;5.23	2.27	1.23	0.21249	Krueppel-associated box (2);	.	.	.	.	T	0.14313	0.0346	M	0.83312	2.635	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.23940	-1.0174	9	0.46703	T	0.11	.	4.7721	0.13160	0.0:0.8205:0.0:0.1795	.	85	Q9Y473	ZN175_HUMAN	S	85	ENSP00000262259:P85S;ENSP00000440578:P85S	ENSP00000262259:P85S	P	+	1	0	ZNF175	56776905	0.000000	0.05858	0.026000	0.17262	0.003000	0.03518	-0.750000	0.04808	0.510000	0.28216	0.561000	0.74099	CCG		0.453	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		4	36	0	0	0	1	0	4	36				
NTRK2	4915	broad.mit.edu	37	9	87636326	87636326	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:87636326C>T	ENST00000323115.4	+	17	2796	c.2443C>T	c.(2443-2445)Ccg>Tcg	p.P815S	NTRK2_ENST00000376214.1_Missense_Mutation_p.P831S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P831S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P815S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	815					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CAAGGCATCTCCGGTCTACCT	0.552										TSP Lung(25;0.17)																												ENST00000376214.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(2491-2493)Ccg>Tcg		neurotrophic tyrosine kinase, receptor, type 2							134.0	122.0	126.0					9																	87636326		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87636326C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2443C>T	9.37:g.87636326C>T	ENSP00000314586:p.Pro815Ser	TSP Lung(25;0.17)				NTRK2_ENST00000376213.1_Missense_Mutation_p.P815S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P831S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P815S	p.P831S	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN			21	3429	+			815					B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.2491C>T	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564766	0.86439	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	T;T;T;T	0.74421	-0.84;-0.82;-0.84;-0.82	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	L	0.39467	1.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81337	-0.0978	10	0.48119	T	0.1	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	815;831	Q16620;Q16620-4	NTRK2_HUMAN;.	S	831;815;831;815	ENSP00000365387:P831S;ENSP00000365386:P815S;ENSP00000277120:P831S;ENSP00000314586:P815S	ENSP00000277120:P831S	P	+	1	0	NTRK2	86826146	1.000000	0.71417	0.986000	0.45419	0.929000	0.56500	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	CCG		0.552	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			7	54	0	0	0	1	0	7	54				
UBR4	23352	broad.mit.edu	37	1	19454132	19454132	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19454132C>T	ENST00000375254.3	-	63	9240	c.9213G>A	c.(9211-9213)aaG>aaA	p.K3071K	UBR4_ENST00000375217.2_Silent_p.K3064K|UBR4_ENST00000375267.2_Silent_p.K3071K|UBR4_ENST00000375226.2_Silent_p.K3047K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3071					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)			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)		ATATGGAAGACTTGGATCCAG	0.498																																						ENST00000375267.2																			0				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						c.(9211-9213)aaG>aaA		ubiquitin protein ligase E3 component n-recognin 4							195.0	192.0	193.0					1																	19454132		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19454132C>T	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.9213G>A	1.37:g.19454132C>T						UBR4_ENST00000375254.3_Silent_p.K3071K|UBR4_ENST00000375226.2_Silent_p.K3047K|UBR4_ENST00000375217.2_Silent_p.K3064K	p.K3071K			Q5T4S7	UBR4_HUMAN		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)	63	9216	-		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)	3071					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.9213G>A	CCDS189.1																																																																																				0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		16	141	0	0	0	1	0	16	141				
AS3MT	57412	broad.mit.edu	37	10	104638677	104638677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104638677C>T	ENST00000369880.3	+	9	891	c.814C>T	c.(814-816)Caa>Taa	p.Q272*	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	272					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CAAGAGATGCCAAGTTATTTA	0.348																																						ENST00000369880.3																			0				large_intestine(1)|lung(6)	7						c.(814-816)Caa>Taa		arsenic (+3 oxidation state) methyltransferase							151.0	137.0	142.0					10																	104638677		1869	4104	5973	SO:0001587	stop_gained	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104638677C>T	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.814C>T	10.37:g.104638677C>T	ENSP00000358896:p.Gln272*					C10ORF32_ENST00000299353.6_3'UTR	p.Q272*	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	9	891	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	272					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Nonsense_Mutation	SNP	ENST00000369880.3	37	c.814C>T	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080465	0.94050	.	.	ENSG00000214435	ENST00000369880	.	.	.	5.7	4.74	0.60224	.	0.303860	0.36854	N	0.002378	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-5.0664	14.4035	0.67065	0.0:0.7693:0.2307:0.0	.	.	.	.	X	272	.	ENSP00000358896:Q272X	Q	+	1	0	AS3MT	104628667	0.974000	0.33945	0.992000	0.48379	0.819000	0.46315	1.993000	0.40747	2.682000	0.91365	0.561000	0.74099	CAA		0.348	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		11	94	0	0	0	1	0	11	94				
OR1L6	392390	broad.mit.edu	37	9	125512171	125512171	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:125512171C>T	ENST00000373684.1	+	1	153	c.153C>T	c.(151-153)ctC>ctT	p.L51L	OR1L6_ENST00000304720.2_Silent_p.L15L			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCTTCATCCTCCTGGGCCTCT	0.537																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(151-153)ctC>ctT		olfactory receptor, family 1, subfamily L, member 6							185.0	174.0	178.0					9																	125512171		2203	4300	6503	SO:0001819	synonymous_variant	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512171C>T		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.153C>T	9.37:g.125512171C>T						OR1L6_ENST00000304720.2_Silent_p.L15L	p.L51L			Q8NGR2	OR1L6_HUMAN			1	153	+			51					Q6IFM8|Q96R80	Silent	SNP	ENST00000373684.1	37	c.153C>T																																																																																					0.537	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				56	107	0	0	0	1	0	56	107				
THRAP3	9967	broad.mit.edu	37	1	36748253	36748253	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36748253C>A	ENST00000354618.5	+	3	313	c.89C>A	c.(88-90)tCt>tAt	p.S30Y	THRAP3_ENST00000469141.2_Missense_Mutation_p.S30Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	30	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTTCGAAGTCTCGGTCCCGA	0.463			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(88-90)tCt>tAt		thyroid hormone receptor associated protein 3							123.0	109.0	114.0					1																	36748253		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36748253C>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.89C>A	1.37:g.36748253C>A	ENSP00000346634:p.Ser30Tyr					THRAP3_ENST00000469141.2_Missense_Mutation_p.S30Y	p.S30Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			3	313	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	30			Arg-rich.|Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.89C>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561831	0.86335	.	.	ENSG00000054118	ENST00000354618;ENST00000469141;ENST00000478853	T;T	0.29655	1.56;1.56	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.54029	0.1833	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.51371	-0.8714	10	0.87932	D	0	-10.1036	19.3309	0.94288	0.0:1.0:0.0:0.0	.	30	Q9Y2W1	TR150_HUMAN	Y	30	ENSP00000346634:S30Y;ENSP00000433825:S30Y	ENSP00000346634:S30Y	S	+	2	0	THRAP3	36520840	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.737000	0.74816	2.880000	0.98712	0.650000	0.86243	TCT		0.463	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		32	40	1	0	1.06801e-11	1	1.07257e-11	32	40				
DDX24	57062	broad.mit.edu	37	14	94517805	94517805	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:94517805C>T	ENST00000330836.5	-	9	2443	c.2312G>A	c.(2311-2313)gGa>gAa	p.G771E	DDX24_ENST00000544005.1_Missense_Mutation_p.G521E|DDX24_ENST00000555054.1_Missense_Mutation_p.G728E|DDX24_ENST00000553400.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	771					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GTCAGCTTTTCCTCCTTGAAA	0.428											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(2311-2313)gGa>gAa		DEAD (Asp-Glu-Ala-Asp) box helicase 24							166.0	153.0	157.0					14																	94517805		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94517805C>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2312G>A	14.37:g.94517805C>T	ENSP00000328690:p.Gly771Glu		OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1306	DDX24_ENST00000544005.1_Missense_Mutation_p.G521E|DDX24_ENST00000555054.1_Missense_Mutation_p.G728E|DDX24_ENST00000553400.1_5'UTR	p.G771E	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	9	2443	-		all_cancers(154;0.12)	771					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.2312G>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679432	0.29783	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.03124	4.1;4.04;4.11	5.51	4.6	0.57074	.	0.630676	0.18371	N	0.143250	T	0.04092	0.0114	L	0.43152	1.355	0.32493	N	0.539921	B	0.28760	0.221	B	0.24155	0.051	T	0.15665	-1.0429	10	0.18276	T	0.48	-2.8029	11.7063	0.51599	0.0:0.8066:0.1246:0.0689	.	771	Q9GZR7	DDX24_HUMAN	E	771;521;716;397;728;728	ENSP00000328690:G771E;ENSP00000440623:G521E;ENSP00000452145:G728E	ENSP00000328690:G771E	G	-	2	0	DDX24	93587558	1.000000	0.71417	0.998000	0.56505	0.560000	0.35617	2.706000	0.47135	1.400000	0.46741	0.655000	0.94253	GGA		0.428	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		25	97	0	0	0	1	0	25	97				
DNMT3B	1789	broad.mit.edu	37	20	31380526	31380526	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:31380526G>A	ENST00000328111.2	+	9	1337	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	DNMT3B_ENST00000201963.3_Missense_Mutation_p.G351D|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G263D|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G297D|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G339D|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G339D|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G339D	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	339					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)			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						GCCCACGGGGGCTTCAAGCCC	0.622																																						ENST00000328111.2																			0				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						c.(1015-1017)gGc>gAc		DNA (cytosine-5-)-methyltransferase 3 beta							66.0	65.0	65.0					20																	31380526		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31380526G>A		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.1016G>A	20.37:g.31380526G>A	ENSP00000328547:p.Gly339Asp					DNMT3B_ENST00000456297.2_Missense_Mutation_p.G263D|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G339D|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G297D|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G339D|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G351D|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G339D|DNMT3B_ENST00000375623.4_Intron	p.G339D	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			9	1337	+			339					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1016G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278238	0.95459	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	M	0.79693	2.465	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;0.999;0.994	D	0.86878	0.2040	10	0.72032	D	0.01	-29.9401	18.2914	0.90131	0.0:0.0:1.0:0.0	.	263;297;38;351;339;339;339	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	D	339;425;339;339;297;263;339;351	ENSP00000328547:G339D;ENSP00000313397:G339D;ENSP00000337764:G339D;ENSP00000403169:G297D;ENSP00000412305:G263D;ENSP00000345105:G339D;ENSP00000201963:G351D	ENSP00000201963:G351D	G	+	2	0	DNMT3B	30844187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.147000	0.94646	2.576000	0.86940	0.561000	0.74099	GGC		0.622	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		21	38	0	0	0	1	0	21	38				
CUBN	8029	broad.mit.edu	37	10	16955887	16955887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:16955887C>T	ENST00000377833.4	-	48	7521	c.7456G>A	c.(7456-7458)Gag>Aag	p.E2486K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2486	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGCCTTCCCTCCGGGGCAGTG	0.542																																						ENST00000377833.4																			0				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						c.(7456-7458)Gag>Aag		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						139.0	127.0	131.0					10																	16955887		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16955887C>T	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.7456G>A	10.37:g.16955887C>T	ENSP00000367064:p.Glu2486Lys						p.E2486K	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			48	7521	-			2486			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7456G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382413	0.24944	.	.	ENSG00000107611	ENST00000377833	T	0.17054	2.3	5.42	5.42	0.78866	CUB (5);	0.000000	0.47455	D	0.000238	T	0.20088	0.0483	L	0.58101	1.795	0.80722	D	1	B	0.32653	0.379	B	0.30716	0.119	T	0.04579	-1.0941	10	0.16420	T	0.52	.	19.2242	0.93812	0.0:1.0:0.0:0.0	.	2486	O60494	CUBN_HUMAN	K	2486	ENSP00000367064:E2486K	ENSP00000367064:E2486K	E	-	1	0	CUBN	16995893	1.000000	0.71417	0.477000	0.27303	0.024000	0.10985	4.572000	0.60886	2.553000	0.86117	0.591000	0.81541	GAG		0.542	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		12	172	0	0	0	1	0	12	172				
MYO15A	51168	broad.mit.edu	37	17	18025675	18025675	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:18025675C>T	ENST00000205890.5	+	2	3899	c.3561C>T	c.(3559-3561)tcC>tcT	p.S1187S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1187					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)			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)					CCTGCCTGTCCCTTAGGGGCT	0.637																																						ENST00000205890.5																			0				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						c.(3559-3561)tcC>tcT		myosin XVA							36.0	43.0	41.0					17																	18025675		1999	4170	6169	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025675C>T	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.3561C>T	17.37:g.18025675C>T							p.S1187S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3899	+	all_neural(463;0.228)		1187			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.3561C>T	CCDS42271.1																																																																																				0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		19	44	0	0	0	1	0	19	44				
TSPAN16	26526	broad.mit.edu	37	19	11408846	11408846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11408846G>A	ENST00000316737.1	+	2	248	c.98G>A	c.(97-99)gGc>gAc	p.G33D	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.G33D|TSPAN16_ENST00000590327.1_Missense_Mutation_p.G33D	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	33						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GTTGGCCTGGGCATTGGTGGT	0.507																																						ENST00000316737.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(97-99)gGc>gAc		tetraspanin 16							163.0	138.0	147.0					19																	11408846		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11408846G>A	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.98G>A	19.37:g.11408846G>A	ENSP00000319486:p.Gly33Asp					TSPAN16_ENST00000590327.1_Missense_Mutation_p.G33D|TSPAN16_ENST00000592955.1_Missense_Mutation_p.G33D	p.G33D	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN			2	248	+			33					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.98G>A	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379306	0.42207	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	D;D	0.86230	-2.09;-2.09	3.57	1.33	0.21861	.	0.440528	0.16972	N	0.192058	D	0.82907	0.5139	M	0.70595	2.14	0.09310	N	1	P	0.42203	0.773	B	0.38985	0.287	T	0.75485	-0.3301	10	0.87932	D	0	-8.0223	4.8017	0.13299	0.1228:0.2215:0.6557:0.0	.	33	Q9UKR8	TSN16_HUMAN	D	33	ENSP00000319486:G33D;ENSP00000338759:G33D	ENSP00000319486:G33D	G	+	2	0	TSPAN16	11269846	0.824000	0.29247	0.029000	0.17559	0.054000	0.15201	1.378000	0.34328	0.456000	0.26937	0.462000	0.41574	GGC		0.507	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		7	64	0	0	0	1	0	7	64				
NKD2	85409	broad.mit.edu	37	5	1037968	1037968	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:1037968A>T	ENST00000296849.5	+	10	1065	c.836A>T	c.(835-837)cAc>cTc	p.H279L	NKD2_ENST00000382730.2_Intron|NKD2_ENST00000274150.4_3'UTR	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	279					exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AGGGCCTCGCACCTCCAGGCC	0.672																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(835-837)cAc>cTc		naked cuticle homolog 2 (Drosophila)							19.0	21.0	20.0					5																	1037968		2198	4276	6474	SO:0001583	missense	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1037968A>T	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.836A>T	5.37:g.1037968A>T	ENSP00000296849:p.His279Leu					NKD2_ENST00000382730.2_Intron|NKD2_ENST00000274150.4_3'UTR	p.H279L	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1065	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		279					Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	c.836A>T	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	A	9.908	1.208748	0.22205	.	.	ENSG00000145506	ENST00000296849	T	0.44482	0.92	3.97	2.79	0.32731	.	0.523192	0.19173	N	0.120881	T	0.36441	0.0967	L	0.53249	1.67	0.47659	D	0.999487	B	0.24426	0.103	B	0.28011	0.085	T	0.19516	-1.0303	10	0.66056	D	0.02	-18.4106	6.0763	0.19917	0.8768:0.0:0.1232:0.0	.	279	Q969F2	NKD2_HUMAN	L	279	ENSP00000296849:H279L	ENSP00000296849:H279L	H	+	2	0	NKD2	1090968	0.002000	0.14202	0.017000	0.16124	0.215000	0.24574	1.671000	0.37513	0.424000	0.26061	0.254000	0.18369	CAC		0.672	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		7	7	0	0	0	1	0	7	7				
TLR9	54106	broad.mit.edu	37	3	52258170	52258170	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52258170G>A	ENST00000360658.2	-	2	795	c.162C>T	c.(160-162)ccC>ccT	p.P54P	TLR9_ENST00000494383.1_Missense_Mutation_p.P208S|TLR9_ENST00000597542.1_Silent_p.P78P	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	54					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TGGAGAAGTGGGGCACAGACT	0.607																																						ENST00000494383.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(622-624)Cca>Tca		toll-like receptor 9	Chloroquine(DB00608)						113.0	99.0	104.0					3																	52258170		2203	4300	6503	SO:0001819	synonymous_variant	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52258170G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.162C>T	3.37:g.52258170G>A						TLR9_ENST00000360658.2_Silent_p.P54P|TLR9_ENST00000597542.1_Silent_p.P78P	p.P208S			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	621	-			0					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.622C>T	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991093	0.18966	.	.	ENSG00000173366	ENST00000494383	T	0.62941	-0.01	5.2	2.39	0.29439	.	0.000000	0.33496	N	0.004843	T	0.63046	0.2478	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60393	-0.7272	7	0.87932	D	0	.	4.1771	0.10356	0.0829:0.3007:0.461:0.1554	.	.	.	.	S	208	ENSP00000417517:P208S	ENSP00000417517:P208S	P	-	1	0	RP11-330H6.5	52233210	0.884000	0.30299	0.998000	0.56505	0.953000	0.61014	0.253000	0.18296	0.196000	0.20367	0.555000	0.69702	CCA		0.607	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			4	73	0	0	0	1	0	4	73				
TTN	7273	broad.mit.edu	37	2	179424314	179424314	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179424314G>A	ENST00000591111.1	-	276	81846	c.81622C>T	c.(81622-81624)Cca>Tca	p.P27208S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P19909S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P28849S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19784S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P19976S|TTN_ENST00000342992.6_Missense_Mutation_p.P26281S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27208	Fibronectin type-III 98. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTGGTTGGAGGACCTGGG	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(86545-86547)Cca>Tca		titin							192.0	179.0	183.0					2																	179424314		1923	4151	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424314G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81622C>T	2.37:g.179424314G>A	ENSP00000465570:p.Pro27208Ser					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27208S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P19976S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19784S|TTN_ENST00000359218.5_Missense_Mutation_p.P19909S|TTN_ENST00000342992.6_Missense_Mutation_p.P26281S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.P28849S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86769	-			27208			Fibronectin type-III 110.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86545C>T		.	.	.	.	.	.	.	.	.	.	G	13.86	2.363346	0.41902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.77	4.88	0.63580	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91496	0.7315	M	0.91406	3.205	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67900	0.954;0.954;0.954;0.934	D	0.93655	0.6976	9	0.87932	D	0	.	17.3804	0.87403	0.0:0.1246:0.8754:0.0	.	19784;19909;19976;27208	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	26281;19784;19976;19909;19781	ENSP00000343764:P26281S;ENSP00000434586:P19784S;ENSP00000340554:P19976S;ENSP00000352154:P19909S	ENSP00000340554:P19976S	P	-	1	0	TTN	179132560	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	7.912000	0.87465	1.552000	0.49463	0.655000	0.94253	CCA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	134	0	0	0	1	0	5	134				
SERPINB3	6317	broad.mit.edu	37	18	61324598	61324598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:61324598G>A	ENST00000283752.5	-	6	661	c.518C>T	c.(517-519)aCa>aTa	p.T173I	SERPINB3_ENST00000332821.8_Missense_Mutation_p.T173I|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	173					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAGAACCAATGTGGTATTGCT	0.343																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(517-519)aCa>aTa		serpin peptidase inhibitor, clade B (ovalbumin), member 3							103.0	104.0	104.0					18																	61324598		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61324598G>A	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.518C>T	18.37:g.61324598G>A	ENSP00000283752:p.Thr173Ile					SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.T173I	p.T173I	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			6	661	-			173					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.518C>T	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.742895	0.00675	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.83837	-1.77;-1.77	2.74	-5.49	0.02584	Serpin domain (3);	1.163550	0.06670	N	0.766086	T	0.44371	0.1290	N	0.00303	-1.675	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.001;0.003;0.006	T	0.39396	-0.9616	10	0.19147	T	0.46	.	0.6002	0.00743	0.2119:0.1648:0.2118:0.4115	.	173;173;173	P29508-2;P29508;Q5K684	.;SPB3_HUMAN;.	I	173	ENSP00000283752:T173I;ENSP00000329498:T173I	ENSP00000283752:T173I	T	-	2	0	SERPINB3	59475578	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.167000	0.00145	-3.577000	0.00138	-1.436000	0.01078	ACA		0.343	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		54	20	0	0	0	1	0	54	20				
AGL	178	broad.mit.edu	37	1	100347097	100347097	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100347097G>A	ENST00000294724.4	+	17	2636	c.2158G>A	c.(2158-2160)Gtg>Atg	p.V720M	AGL_ENST00000361915.3_Splice_Site_p.V720M|AGL_ENST00000370161.2_Splice_Site_p.V704M|AGL_ENST00000361302.3_Splice_Site_p.V704M|AGL_ENST00000370165.3_Splice_Site_p.V720M|AGL_ENST00000361522.4_Splice_Site_p.V703M|AGL_ENST00000370163.3_Splice_Site_p.V720M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	720					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGCTTCTCAGGTGTATGTGGA	0.383																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.e17-1		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							146.0	147.0	147.0					1																	100347097		2203	4300	6503	SO:0001630	splice_region_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100347097G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2158-1G>A	1.37:g.100347097G>A						AGL_ENST00000370165.3_Splice_Site_p.V720_splice|AGL_ENST00000370163.3_Splice_Site_p.V720_splice|AGL_ENST00000361915.3_Splice_Site_p.V720_splice|AGL_ENST00000370161.2_Splice_Site_p.V704_splice|AGL_ENST00000361302.3_Splice_Site_p.V704_splice|AGL_ENST00000361522.4_Splice_Site_p.V703_splice	p.V720_splice	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	17	2636	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	720					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Splice_Site	SNP	ENST00000294724.4	37	c.2157_splice	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388124	0.82902	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.989	T	0.27872	-1.0061	9	.	.	.	-17.7244	20.3431	0.98773	0.0:0.0:1.0:0.0	.	703;704;720	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	M	720;720;720;720;704;704;703	ENSP00000355106:V720M;ENSP00000359184:V720M;ENSP00000359182:V720M;ENSP00000294724:V720M;ENSP00000354971:V704M;ENSP00000359180:V704M;ENSP00000354635:V703M	.	V	+	1	0	AGL	100119685	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.321000	0.96353	2.880000	0.98712	0.650000	0.86243	GTG		0.383	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	Missense_Mutation	7	96	0	0	0	1	0	7	96				
MYH9	4627	broad.mit.edu	37	22	36680267	36680267	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:36680267C>T	ENST00000216181.5	-	40	5867	c.5637G>A	c.(5635-5637)ctG>ctA	p.L1879L	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1879					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGGCCTCCTCCAGCTGCCGCT	0.701			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(5635-5637)ctG>ctA		myosin, heavy chain 9, non-muscle							22.0	26.0	24.0					22																	36680267		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36680267C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5637G>A	22.37:g.36680267C>T						MYH9_ENST00000475726.1_5'UTR	p.L1879L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			40	5867	-			1879					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.5637G>A	CCDS13927.1																																																																																				0.701	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	18	0	0	0	1	0	7	18				
CD22	933	broad.mit.edu	37	19	35836533	35836533	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35836533C>T	ENST00000085219.5	+	12	2303	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	CD22_ENST00000544992.2_Intron|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000419549.2_Missense_Mutation_p.P574L|CD22_ENST00000341773.6_Missense_Mutation_p.P569L|CD22_ENST00000536635.2_Missense_Mutation_p.P658L|CD22_ENST00000270311.6_Intron|CD22_ENST00000594250.1_Missense_Mutation_p.P569L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	746					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCTGAAGGCCCCCACTCCCTG	0.577																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2236-2238)cCc>cTc		CD22 molecule	OspA lipoprotein(DB00045)						108.0	87.0	95.0					19																	35836533		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35836533C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2237C>T	19.37:g.35836533C>T	ENSP00000085219:p.Pro746Leu					CD22_ENST00000544992.2_Intron|CD22_ENST00000594250.1_Missense_Mutation_p.P569L|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.P574L|CD22_ENST00000341773.6_Missense_Mutation_p.P569L|CD22_ENST00000536635.2_Missense_Mutation_p.P658L	p.P746L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		12	2303	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		746					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2237C>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721057	0.68959	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000419549	T;T;T;T	0.58210	0.78;0.35;0.42;0.89	4.68	4.68	0.58851	.	0.000000	0.47852	D	0.000212	T	0.68979	0.3060	M	0.75447	2.3	0.28966	N	0.889543	D;D;D;D	0.89917	1.0;1.0;0.959;1.0	D;D;P;D	0.97110	0.989;0.999;0.523;1.0	T	0.63506	-0.6622	10	0.21540	T	0.41	.	13.433	0.61066	0.0:1.0:0.0:0.0	.	574;658;746;569	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	L	746;658;569;574	ENSP00000085219:P746L;ENSP00000442279:P658L;ENSP00000339349:P569L;ENSP00000403822:P574L	ENSP00000085219:P746L	P	+	2	0	CD22	40528373	0.002000	0.14202	0.210000	0.23637	0.089000	0.18198	0.955000	0.29188	2.323000	0.78572	0.462000	0.41574	CCC		0.577	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		22	40	0	0	0	1	0	22	40				
ZNF830	91603	broad.mit.edu	37	17	33289651	33289651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:33289651G>A	ENST00000361952.3	+	1	1103	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	356					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TGATGAGGGGGAACTACAGGA	0.398																																						ENST00000361952.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1066-1068)Gaa>Aaa		zinc finger protein 830							116.0	138.0	131.0					17																	33289651		2147	4253	6400	SO:0001583	missense	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289651G>A	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.1066G>A	17.37:g.33289651G>A	ENSP00000354518:p.Glu356Lys						p.E356K	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN			1	1103	+		Ovarian(249;0.17)	356					Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	ENST00000361952.3	37	c.1066G>A	CCDS32618.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931427	0.73442	.	.	ENSG00000198783	ENST00000361952	T	0.19105	2.17	6.08	6.08	0.98989	.	0.122258	0.53938	D	0.000050	T	0.16257	0.0391	N	0.20986	0.625	0.58432	D	0.999998	B	0.33549	0.417	B	0.30105	0.111	T	0.02676	-1.1125	10	0.49607	T	0.09	-20.9427	16.1635	0.81734	0.0:0.0:1.0:0.0	.	356	Q96NB3	ZN830_HUMAN	K	356	ENSP00000354518:E356K	ENSP00000354518:E356K	E	+	1	0	ZNF830	30313764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.583000	0.74053	2.894000	0.99253	0.655000	0.94253	GAA		0.398	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		30	37	0	0	0	1	0	30	37				
SMTN	6525	broad.mit.edu	37	22	31485684	31485684	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:31485684G>A	ENST00000347557.2	+	7	689		c.e7-1		SMTN_ENST00000333137.7_Splice_Site|SMTN_ENST00000358743.1_Splice_Site	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GTCCCTTACAGGTGCCAGAGC	0.617																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.e7-1		smoothelin							79.0	76.0	77.0					22																	31485684		2203	4300	6503	SO:0001630	splice_region_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31485684G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.472-1G>A	22.37:g.31485684G>A						SMTN_ENST00000358743.1_Splice_Site|SMTN_ENST00000347557.2_Splice_Site		NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			7	689	+								O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Splice_Site	SNP	ENST00000347557.2	37		CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259261	0.23051	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000416786;ENST00000431481	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4743	0.75465	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMTN	29815684	0.997000	0.39634	0.987000	0.45799	0.376000	0.30014	2.138000	0.42140	2.623000	0.88846	0.563000	0.77884	.		0.617	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270	Intron	4	77	0	0	0	1	0	4	77				
IL17RE	132014	broad.mit.edu	37	3	9957470	9957470	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9957470C>T	ENST00000383814.3	+	16	2088	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	IL17RE_ENST00000295980.3_Silent_p.A661A|IL17RC_ENST00000403601.3_5'Flank|IL17RC_ENST00000295981.3_5'Flank|IL17RC_ENST00000383812.4_5'Flank|IL17RC_ENST00000455057.1_5'Flank|IL17RE_ENST00000421412.1_Silent_p.A694A|IL17RC_ENST00000416074.2_5'Flank|IL17RC_ENST00000413608.1_5'Flank|IL17RE_ENST00000454190.2_3'UTR	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	661					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GAGAGGCCGCCCGACTTGCAG	0.697																																						ENST00000295980.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21						c.(1981-1983)gcC>gcT		interleukin 17 receptor E							10.0	11.0	11.0					3																	9957470		1549	3058	4607	SO:0001819	synonymous_variant	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9957470C>T	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1983C>T	3.37:g.9957470C>T						IL17RE_ENST00000383814.3_Silent_p.A661A|IL17RE_ENST00000454190.2_3'UTR|IL17RE_ENST00000421412.1_Silent_p.A694A	p.A661A	NM_153483.2	NP_705616.2	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	17	2100	+			661					B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	c.1983C>T	CCDS2589.1																																																																																				0.697	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		3	16	0	0	0	1	0	3	16				
COL12A1	1303	broad.mit.edu	37	6	75812396	75812396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:75812396G>A	ENST00000322507.8	-	56	8641	c.8332C>T	c.(8332-8334)Cct>Tct	p.P2778S	COL12A1_ENST00000483888.2_Missense_Mutation_p.P2778S|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2702S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1614S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2778	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				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)			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						TCTCCACGAGGACCAGGGGGC	0.502																																						ENST00000322507.8																			0				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						c.(8332-8334)Cct>Tct		collagen, type XII, alpha 1							42.0	41.0	41.0					6																	75812396		1836	4093	5929	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75812396G>A	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.8332C>T	6.37:g.75812396G>A	ENSP00000325146:p.Pro2778Ser					COL12A1_ENST00000416123.2_Missense_Mutation_p.P2702S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1614S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2778S	p.P2778S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			56	8641	-			2778			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8332C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330415	0.60743	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.29	4.39	0.52855	.	0.197910	0.43110	D	0.000611	D	0.96185	0.8756	M	0.66378	2.025	0.45330	D	0.998328	P;P	0.52692	0.887;0.955	P;P	0.57009	0.638;0.811	D	0.95714	0.8760	10	0.52906	T	0.07	.	14.0555	0.64767	0.0:0.1508:0.8492:0.0	.	1614;2778	Q99715-2;Q99715	.;COCA1_HUMAN	S	2778;416;2702;1614;2702;2778	ENSP00000325146:P2778S;ENSP00000399812:P416S;ENSP00000305147:P1614S;ENSP00000412864:P2702S;ENSP00000421216:P2778S	ENSP00000325146:P2778S	P	-	1	0	COL12A1	75869116	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.723000	0.74742	1.184000	0.42957	0.591000	0.81541	CCT		0.502	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		3	28	0	0	0	1	0	3	28				
ARHGAP5	394	broad.mit.edu	37	14	32561747	32561747	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:32561747C>T	ENST00000345122.3	+	2	2187	c.1872C>T	c.(1870-1872)gcC>gcT	p.A624A	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.A624A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Silent_p.A624A|ARHGAP5_ENST00000432921.1_Silent_p.A624A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	624					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGAGTATGCCTTAGATGGAA	0.403																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1870-1872)gcC>gcT		Rho GTPase activating protein 5							127.0	123.0	124.0					14																	32561747		2203	4300	6503	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561747C>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1872C>T	14.37:g.32561747C>T						ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.A624A|ARHGAP5_ENST00000539826.2_Silent_p.A624A|ARHGAP5_ENST00000556611.1_Silent_p.A624A	p.A624A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2187	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		624					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1872C>T	CCDS32062.1																																																																																				0.403	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		10	103	0	0	0	1	0	10	103				
SIX6	4990	broad.mit.edu	37	14	60976148	60976148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:60976148C>T	ENST00000327720.5	+	1	480	c.32C>T	c.(31-33)cCc>cTc	p.P11L		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	11					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		AATTTCAGCCCCCAGCAAGTG	0.697																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(31-33)cCc>cTc		SIX homeobox 6							38.0	43.0	41.0					14																	60976148		2203	4300	6503	SO:0001583	missense	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60976148C>T	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.32C>T	14.37:g.60976148C>T	ENSP00000328596:p.Pro11Leu						p.P11L	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	1	480	+			11					Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	c.32C>T	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020818	0.75275	.	.	ENSG00000184302	ENST00000327720	D	0.97114	-4.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.62209	1.925	0.80722	D	1	B	0.28552	0.215	B	0.22601	0.04	D	0.93220	0.6608	10	0.30078	T	0.28	.	18.891	0.92403	0.0:1.0:0.0:0.0	.	11	O95475	SIX6_HUMAN	L	11	ENSP00000328596:P11L	ENSP00000328596:P11L	P	+	2	0	SIX6	60045901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.864000	0.69575	2.941000	0.99782	0.655000	0.94253	CCC		0.697	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			30	46	0	0	0	1	0	30	46				
PLCL2	23228	broad.mit.edu	37	3	17131266	17131266	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:17131266G>A	ENST00000418129.2	+	6	3333	c.2868G>A	c.(2866-2868)ttG>ttA	p.L956L	PLCL2_ENST00000432376.1_Silent_p.L956L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1082					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGAGACATTGGAGAACCTGA	0.388																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(2866-2868)ttG>ttA		phospholipase C-like 2							126.0	133.0	130.0					3																	17131266		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17131266G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2868G>A	3.37:g.17131266G>A						PLCL2_ENST00000432376.1_Silent_p.L956L	p.L956L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			6	3333	+			1082					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.2868G>A	CCDS33713.1																																																																																				0.388	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			22	41	0	0	0	1	0	22	41				
SETD2	29072	broad.mit.edu	37	3	47164226	47164226	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:47164226G>A	ENST00000409792.3	-	3	1942	c.1900C>T	c.(1900-1902)Cct>Tct	p.P634S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	634					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAAAAATAGGCAATTCATCT	0.303			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(1900-1902)Cct>Tct		SET domain containing 2							41.0	45.0	43.0					3																	47164226		2201	4299	6500	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164226G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1900C>T	3.37:g.47164226G>A	ENSP00000386759:p.Pro634Ser						p.P634S	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1942	-		Acute lymphoblastic leukemia(5;0.0169)	634					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.1900C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	2.425	-0.332103	0.05314	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89939	-2.59;1.3	5.44	3.67	0.42095	.	0.851693	0.10234	N	0.699237	T	0.81069	0.4746	N	0.19112	0.55	0.25380	N	0.98862	B;B	0.10296	0.003;0.003	B;B	0.13407	0.009;0.003	T	0.69331	-0.5173	10	0.46703	T	0.11	.	8.8052	0.34934	0.1372:0.1242:0.7386:0.0	.	634;634	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	634;634;634;590	ENSP00000386759:P634S;ENSP00000416401:P590S	ENSP00000386759:P634S	P	-	1	0	SETD2	47139230	0.996000	0.38824	0.741000	0.31004	0.044000	0.14063	1.497000	0.35649	0.869000	0.35703	-0.140000	0.14226	CCT		0.303	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		16	58	0	0	0	1	0	16	58				
IK	3550	broad.mit.edu	37	5	140039744	140039744	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140039744G>A	ENST00000417647.2	+	15	1458	c.1319G>A	c.(1318-1320)gGc>gAc	p.G440D		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	440					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTCTTTGGCATGTCCAAC	0.448																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(1318-1320)gGc>gAc		IK cytokine, down-regulator of HLA II							65.0	66.0	65.0					5																	140039744		1862	4102	5964	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140039744G>A	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1319G>A	5.37:g.140039744G>A	ENSP00000396301:p.Gly440Asp						p.G440D	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1458	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	440					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.1319G>A	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258467	0.80246	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.12	5.12	0.69794	.	0.099869	0.64402	D	0.000001	T	0.61627	0.2362	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66598	-0.5883	9	0.52906	T	0.07	.	16.7047	0.85368	0.0:0.0:1.0:0.0	.	440	Q13123	RED_HUMAN	D	440	.	ENSP00000396301:G440D	G	+	2	0	IK	140019928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.443000	0.97568	2.527000	0.85204	0.655000	0.94253	GGC		0.448	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		3	33	0	0	0	1	0	3	33				
CACNA1B	774	broad.mit.edu	37	9	140901293	140901293	+	Missense_Mutation	SNP	G	G	A	rs200239452		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140901293G>A	ENST00000371372.1	+	16	2194	c.2049G>A	c.(2047-2049)atG>atA	p.M683I	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M684I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M683I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M684I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M683I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	683					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAAAGGCATGTTCTCGTCCT	0.557																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2047-2049)atG>atA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						157.0	157.0	157.0					9																	140901293		2146	4251	6397	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140901293G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2049G>A	9.37:g.140901293G>A	ENSP00000360423:p.Met683Ile					CACNA1B_ENST00000371355.4_Missense_Mutation_p.M684I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M684I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M683I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M683I	p.M683I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	16	2194	+	all_cancers(76;0.166)		683					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.2049G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625680	0.66901	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88;-4.88	4.39	4.39	0.52855	.	0.046761	0.85682	D	0.000000	D	0.97158	0.9071	L	0.41124	1.26	0.80722	D	1	P;P	0.47841	0.818;0.901	P;P	0.49361	0.454;0.608	D	0.97818	1.0255	10	0.62326	D	0.03	.	16.097	0.81132	0.0:0.0:1.0:0.0	.	683;683	B1AQK4;B1AQK6	.;.	I	683;683;683;684;684	ENSP00000360423:M683I;ENSP00000277551:M683I;ENSP00000360414:M683I;ENSP00000360408:M684I;ENSP00000360406:M684I	ENSP00000277551:M683I	M	+	3	0	CACNA1B	140021114	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.217000	0.95160	2.156000	0.67533	0.491000	0.48974	ATG		0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		12	17	0	0	0	1	0	12	17				
DLX5	1749	broad.mit.edu	37	7	96653848	96653848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:96653848G>A	ENST00000222598.4	-	1	561	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S	DLX5_ENST00000486603.2_Missense_Mutation_p.P30S|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	30					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)			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)					TCCTGAGACGGATGGTGCATA	0.607																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(88-90)Ccg>Tcg		distal-less homeobox 5							61.0	64.0	63.0					7																	96653848		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96653848G>A		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.88C>T	7.37:g.96653848G>A	ENSP00000222598:p.Pro30Ser					DLX5_ENST00000486603.2_Missense_Mutation_p.P30S|DLX5_ENST00000493764.1_5'UTR	p.P30S	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			1	561	-	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)		30					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.88C>T	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958418	0.53400	.	.	ENSG00000105880	ENST00000222598	D	0.90004	-2.6	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	L	0.50333	1.59	0.80722	D	1	P;P	0.52316	0.941;0.952	P;P	0.51895	0.683;0.576	D	0.89865	0.4019	10	0.42905	T	0.14	-10.9068	18.2087	0.89863	0.0:0.0:1.0:0.0	.	30;30	B7Z4P3;P56178	.;DLX5_HUMAN	S	30	ENSP00000222598:P30S	ENSP00000222598:P30S	P	-	1	0	DLX5	96491784	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.500000	0.97977	2.526000	0.85167	0.561000	0.74099	CCG		0.607	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			21	78	0	0	0	1	0	21	78				
NDP	4693	broad.mit.edu	37	X	43817849	43817849	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:43817849G>A	ENST00000378062.5	-	2	450	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	NDP_ENST00000470584.1_Intron|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	15					canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						ATCACCAGCAGGGAGAGCATA	0.443																																						ENST00000378062.5																			0				kidney(1)|lung(2)	3						c.(43-45)Ctg>Ttg		Norrie disease (pseudoglioma)							201.0	145.0	164.0					X																	43817849		2203	4300	6503	SO:0001819	synonymous_variant	4693				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	g.chrX:43817849G>A	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.43C>T	X.37:g.43817849G>A						NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	p.L15L	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN			2	450	-			15					B2R8K6|Q5JYH5	Silent	SNP	ENST00000378062.5	37	c.43C>T	CCDS14262.1																																																																																				0.443	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		10	69	0	0	0	1	0	10	69				
TTC21B	79809	broad.mit.edu	37	2	166771710	166771710	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166771710C>T	ENST00000243344.7	-	15	2276		c.e15+1			NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B						forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAATTACTTACCTAAAACAAG	0.289																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.e15+1		tetratricopeptide repeat domain 21B							65.0	76.0	73.0					2																	166771710		2203	4300	6503	SO:0001630	splice_region_variant	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166771710C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2138+1G>A	2.37:g.166771710C>T								NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			15	2276	-								A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Splice_Site	SNP	ENST00000243344.7	37		CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225782	0.79576	.	.	ENSG00000123607	ENST00000243344	.	.	.	5.82	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1069	0.72329	0.0:0.932:0.0:0.068	.	.	.	.	.	-1	.	.	.	-	.	.	TTC21B	166479956	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	7.782000	0.85680	1.471000	0.48121	0.655000	0.94253	.		0.289	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	Intron	5	114	0	0	0	1	0	5	114				
SCARF1	8578	broad.mit.edu	37	17	1538078	1538078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1538078G>A	ENST00000263071.4	-	11	2516	c.2467C>T	c.(2467-2469)Ccc>Tcc	p.P823S	SCARF1_ENST00000348987.3_Missense_Mutation_p.P737S|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	823					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGAGATGGGTACAACATTC	0.567																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2467-2469)Ccc>Tcc		scavenger receptor class F, member 1							153.0	167.0	162.0					17																	1538078		2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538078G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2467C>T	17.37:g.1538078G>A	ENSP00000263071:p.Pro823Ser					SCARF1_ENST00000348987.3_Missense_Mutation_p.P737S|SCARF1_ENST00000571272.1_3'UTR	p.P823S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	2516	-			823					A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.2467C>T	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	g	13.04	2.119841	0.37436	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.27104	1.69;2.26	5.11	4.13	0.48395	.	0.174186	0.27659	N	0.018383	T	0.21186	0.0510	L	0.32530	0.975	0.09310	N	1	B;B	0.23377	0.042;0.084	B;B	0.26310	0.068;0.051	T	0.21245	-1.0251	10	0.72032	D	0.01	-4.4114	10.9939	0.47565	0.0:0.0:0.813:0.187	.	737;823	Q14162-2;Q14162	.;SREC_HUMAN	S	823;737	ENSP00000263071:P823S;ENSP00000323964:P737S	ENSP00000263071:P823S	P	-	1	0	SCARF1	1484828	0.018000	0.18449	0.239000	0.24122	0.140000	0.21249	2.121000	0.41977	1.144000	0.42321	0.479000	0.44913	CCC		0.567	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		32	71	0	0	0	1	0	32	71				
SLC12A4	6560	broad.mit.edu	37	16	67979377	67979377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67979377C>T	ENST00000316341.3	-	22	3067	c.2927G>A	c.(2926-2928)gGg>gAg	p.G976E	SLC12A4_ENST00000537830.2_Missense_Mutation_p.G970E|LCAT_ENST00000264005.5_5'Flank|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G928E|SLC12A4_ENST00000422611.2_Missense_Mutation_p.G978E|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G945E|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G976E	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	976					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTGTCAGCCCCCACTGCAGA	0.592																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2932-2934)gGg>gAg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						109.0	102.0	105.0					16																	67979377		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979377C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2927G>A	16.37:g.67979377C>T	ENSP00000318557:p.Gly976Glu					SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G945E|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G970E|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G928E|SLC12A4_ENST00000316341.3_Missense_Mutation_p.G976E|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G976E	p.G978E	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	21	2972	-		Ovarian(137;0.192)	976					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2933G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.102456	0.00356	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.43	4.46	0.54185	K/Cl co-transporter, type 1/type 3 (1);	0.585491	0.17831	N	0.160534	T	0.71676	0.3368	N	0.08118	0	0.19945	N	0.999948	B;B;B;B;B;B	0.22800	0.009;0.001;0.0;0.0;0.001;0.075	B;B;B;B;B;B	0.36186	0.022;0.009;0.003;0.002;0.009;0.219	T	0.61946	-0.6958	10	0.02654	T	1	.	4.3542	0.11170	0.2079:0.5807:0.1302:0.0812	.	978;970;945;970;976;976	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	E	978;945;970;976	ENSP00000395983:G978E;ENSP00000438334:G945E;ENSP00000445962:G970E;ENSP00000318557:G976E	ENSP00000318557:G976E	G	-	2	0	SLC12A4	66536878	0.049000	0.20398	0.994000	0.49952	0.185000	0.23345	1.017000	0.29989	1.260000	0.44134	0.557000	0.71058	GGG		0.592	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		17	39	0	0	0	1	0	17	39				
DPF2	5977	broad.mit.edu	37	11	65108914	65108914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65108914G>A	ENST00000528416.1	+	4	479	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Missense_Mutation_p.G116S|DPF2_ENST00000252268.4_Missense_Mutation_p.G116S	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	116					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTCTCAGGATGGCAGTAGTTT	0.562																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(346-348)Ggc>Agc		D4, zinc and double PHD fingers family 2							97.0	84.0	88.0					11																	65108914		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65108914G>A	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.346G>A	11.37:g.65108914G>A	ENSP00000436901:p.Gly116Ser					DPF2_ENST00000415073.2_Missense_Mutation_p.G116S|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.G116S	p.G116S	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			4	479	+			116					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.346G>A	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906991	0.72868	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.90261	-2.51;-2.64;-2.54	5.31	5.31	0.75309	.	0.000000	0.38272	N	0.001746	D	0.87625	0.6224	L	0.52573	1.65	0.58432	D	0.999999	P;B	0.43094	0.799;0.379	B;B	0.39258	0.295;0.03	D	0.86374	0.1725	10	0.27082	T	0.32	-24.0328	16.4845	0.84181	0.0:0.0:1.0:0.0	.	116;116	B4DT58;Q92785	.;REQU_HUMAN	S	116	ENSP00000436901:G116S;ENSP00000399714:G116S;ENSP00000252268:G116S	ENSP00000252268:G116S	G	+	1	0	DPF2	64865490	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.944000	0.92980	2.507000	0.84556	0.467000	0.42956	GGC		0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		19	29	0	0	0	1	0	19	29				
MAP7D3	79649	broad.mit.edu	37	X	135313821	135313821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:135313821C>T	ENST00000316077.9	-	8	1515	c.1295G>A	c.(1294-1296)gGg>gAg	p.G432E	MAP7D3_ENST00000370661.1_Missense_Mutation_p.G397E|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.G414E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	432					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				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)					CTTGGGTGACCCTTTCACACT	0.587																																						ENST00000316077.9																			0				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						c.(1294-1296)gGg>gAg		MAP7 domain containing 3							103.0	95.0	98.0					X																	135313821		1941	4117	6058	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135313821C>T	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.1295G>A	X.37:g.135313821C>T	ENSP00000318086:p.Gly432Glu					MAP7D3_ENST00000370663.5_Missense_Mutation_p.G414E|MAP7D3_ENST00000370661.1_Missense_Mutation_p.G397E	p.G432E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1515	-	Acute lymphoblastic leukemia(192;0.000127)		432					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1295G>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	5.868	0.344293	0.11126	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	4.94	-8.7	0.00851	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B;B;B	0.19583	0.004;0.002;0.037;0.013	B;B;B;B	0.15870	0.003;0.004;0.006;0.014	T	0.44159	-0.9346	9	0.66056	D	0.02	5.3336	2.3269	0.04225	0.5065:0.1794:0.1353:0.1788	.	414;391;432;397	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	E	397;432;414;391	ENSP00000359695:G397E;ENSP00000318086:G432E;ENSP00000359697:G414E;ENSP00000359694:G391E	ENSP00000318086:G432E	G	-	2	0	MAP7D3	135141487	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.193000	0.03049	-2.123000	0.00823	-1.018000	0.02450	GGG		0.587	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			6	155	0	0	0	1	0	6	155				
NLRP7	199713	broad.mit.edu	37	19	55452854	55452854	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55452854C>T	ENST00000590030.1	-	1	266	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	NLRP7_ENST00000328092.5_Missense_Mutation_p.E76K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E76K|NLRP7_ENST00000588756.1_Missense_Mutation_p.E76K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E104K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E76K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E76K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	76	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCATCTCTTCCAAGATGTTC	0.418																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(226-228)Gaa>Aaa		NLR family, pyrin domain containing 7							133.0	135.0	134.0					19																	55452854		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55452854C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.226G>A	19.37:g.55452854C>T	ENSP00000465520:p.Glu76Lys					NLRP7_ENST00000590030.1_Missense_Mutation_p.E76K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E76K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E76K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E76K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E76K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E104K	p.E76K			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	712	-			76			DAPIN.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.226G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260122	0.39995	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	1.81	1.81	0.25067	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.58293	0.2112	M	0.61703	1.905	0.09310	N	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.981	D;D;D;P	0.65323	0.934;0.934;0.934;0.796	T	0.40403	-0.9565	9	0.45353	T	0.12	.	7.1188	0.25431	0.0:1.0:0.0:0.0	.	104;76;76;76	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	K	76;76;76;104;76	ENSP00000329568:E76K;ENSP00000409137:E76K;ENSP00000339491:E76K;ENSP00000414273:E104K	ENSP00000329568:E76K	E	-	1	0	NLRP7	60144666	0.000000	0.05858	0.040000	0.18447	0.006000	0.05464	0.059000	0.14322	1.306000	0.44926	0.462000	0.41574	GAA		0.418	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		27	53	0	0	0	1	0	27	53				
MS4A12	54860	broad.mit.edu	37	11	60264894	60264894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:60264894G>A	ENST00000016913.4	+	2	160	c.103G>A	c.(103-105)Ggt>Agt	p.G35S	MS4A12_ENST00000537076.1_Missense_Mutation_p.G35S|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	35						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ACAGCCTCTGGGTTCAATCAA	0.507																																						ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(103-105)Ggt>Agt		membrane-spanning 4-domains, subfamily A, member 12							91.0	90.0	90.0					11																	60264894		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60264894G>A	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.103G>A	11.37:g.60264894G>A	ENSP00000016913:p.Gly35Ser					MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.G35S	p.G35S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			2	160	+			35					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.103G>A	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003598	0.35320	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.56941	1.35;0.45;3.16;0.43	4.44	-3.69	0.04450	.	37.667900	0.00166	N	0.000011	T	0.32882	0.0844	N	0.17082	0.46	0.09310	N	1	P;B	0.37441	0.595;0.227	B;B	0.31442	0.13;0.061	T	0.19031	-1.0318	10	0.22706	T	0.39	.	10.1451	0.42758	0.4802:0.0:0.5198:0.0	.	35;35	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	S	35	ENSP00000440424:G35S;ENSP00000431959:G35S;ENSP00000016913:G35S;ENSP00000434783:G35S	ENSP00000016913:G35S	G	+	1	0	MS4A12	60021470	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-0.889000	0.04144	-0.822000	0.04306	0.563000	0.77884	GGT		0.507	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			25	90	0	0	0	1	0	25	90				
MTOR	2475	broad.mit.edu	37	1	11259444	11259444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11259444C>T	ENST00000361445.4	-	28	4200	c.4124G>A	c.(4123-4125)aGa>aAa	p.R1375K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1375					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATTGTCATCTCTCAGTGGCAG	0.532																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4123-4125)aGa>aAa		mechanistic target of rapamycin (serine/threonine kinase)							72.0	69.0	70.0					1																	11259444		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11259444C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4124G>A	1.37:g.11259444C>T	ENSP00000354558:p.Arg1375Lys						p.R1375K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			28	4200	-			1375					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4124G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338193	0.60963	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.06608	3.28	5.92	5.92	0.95590	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	N	0.25647	0.755	0.80722	D	1	B	0.23316	0.083	B	0.21360	0.034	T	0.36768	-0.9734	10	0.40728	T	0.16	-15.3456	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1375	P42345	MTOR_HUMAN	K	1375	ENSP00000354558:R1375K	ENSP00000354558:R1375K	R	-	2	0	MTOR	11182031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	2.804000	0.96469	0.655000	0.94253	AGA		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		22	46	0	0	0	1	0	22	46				
HOXB8	3218	broad.mit.edu	37	17	46691661	46691661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:46691661G>A	ENST00000239144.4	-	1	640	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	HOXB8_ENST00000576562.1_Missense_Mutation_p.P136S|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	136					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCATCCAGGGGAAGAGCTGT	0.721																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(406-408)Ccc>Tcc		homeobox B8							7.0	8.0	8.0					17																	46691661		2121	4184	6305	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691661G>A		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.406C>T	17.37:g.46691661G>A	ENSP00000239144:p.Pro136Ser					HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.P136S	p.P136S	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	640	-			136					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.406C>T	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350519	0.61183	.	.	ENSG00000120068	ENST00000239144	T	0.41400	1.0	2.97	2.97	0.34412	Homeodomain-like (1);Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.64402	U	0.000020	T	0.68035	0.2957	M	0.89095	3.005	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.77316	-0.2633	10	0.87932	D	0	.	14.3989	0.67029	0.0:0.0:1.0:0.0	.	136	P17481	HXB8_HUMAN	S	136	ENSP00000239144:P136S	ENSP00000239144:P136S	P	-	1	0	HOXB8	44046660	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.143000	0.94623	1.685000	0.51034	0.290000	0.19541	CCC		0.721	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			3	15	0	0	0	1	0	3	15				
SLIT1	6585	broad.mit.edu	37	10	98761031	98761031	+	Silent	SNP	G	G	A	rs555096209		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:98761031G>A	ENST00000266058.4	-	37	4688	c.4443C>T	c.(4441-4443)cgC>cgT	p.R1481R	SLIT1_ENST00000371070.4_Missense_Mutation_p.A1440V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1481	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R1481R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATGACAGGGGGCGCGTGGTCT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17503	0.001		0.0	False		,,,				2504	0.0					ENST00000371070.4																			1	Substitution - coding silent(1)	p.R1481R(1)	lung(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4318-4320)gCc>gTc		slit homolog 1 (Drosophila)							50.0	58.0	55.0					10																	98761031		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98761031G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4443C>T	10.37:g.98761031G>A						SLIT1_ENST00000266058.4_Silent_p.R1481R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.A1440V			O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	37	4402	-		Colorectal(252;0.162)	1129			EGF-like 9.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4319C>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380958	0.42207	.	.	ENSG00000187122	ENST00000371070	T	0.80909	-1.43	5.09	2.16	0.27623	.	.	.	.	.	D	0.82536	0.5058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79305	-0.1858	6	0.44086	T	0.13	.	11.1737	0.48586	0.0734:0.4339:0.4926:0.0	.	.	.	.	V	1440	ENSP00000360109:A1440V	ENSP00000360109:A1440V	A	-	2	0	SLIT1	98751021	0.994000	0.37717	0.997000	0.53966	0.924000	0.55760	0.569000	0.23638	0.296000	0.22592	-1.064000	0.02280	GCC		0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		5	88	0	0	0	1	0	5	88				
EMC3	55831	broad.mit.edu	37	3	10015372	10015372	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:10015372G>A	ENST00000245046.2	-	5	892	c.434C>T	c.(433-435)aCc>aTc	p.T145I	EMC3_ENST00000497557.1_5'UTR|EMC3_ENST00000429759.1_Missense_Mutation_p.T183I	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	145						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AAAACGGAGGGTCAGTGGAAA	0.398																																						ENST00000245046.2																			0											c.(433-435)aCc>aTc		ER membrane protein complex subunit 3							124.0	120.0	122.0					3																	10015372		2203	4300	6503	SO:0001583	missense	55831							g.chr3:10015372G>A	AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.434C>T	3.37:g.10015372G>A	ENSP00000245046:p.Thr145Ile					EMC3_ENST00000497557.1_5'UTR|EMC3_ENST00000429759.1_Missense_Mutation_p.T183I	p.T145I	NM_018447.2	NP_060917.1					5	892	-								B2R4Z9|Q53GH8|Q6ZMC2	Missense_Mutation	SNP	ENST00000245046.2	37	c.434C>T	CCDS2594.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963270	0.53507	.	.	ENSG00000125037	ENST00000245046;ENST00000429759	.	.	.	5.88	5.0	0.66597	.	0.042433	0.85682	D	0.000000	D	0.87107	0.6095	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90963	0.4814	9	0.87932	D	0	.	14.1892	0.65628	0.0:0.0:0.8492:0.1507	.	145;145	Q9P0I2-2;Q9P0I2	.;TM111_HUMAN	I	145;183	.	ENSP00000245046:T145I	T	-	2	0	TMEM111	9990372	1.000000	0.71417	0.971000	0.41717	0.006000	0.05464	9.837000	0.99465	1.482000	0.48325	-0.314000	0.08810	ACC		0.398	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447		28	54	0	0	0	1	0	28	54				
ZNF425	155054	broad.mit.edu	37	7	148802241	148802241	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:148802241C>T	ENST00000378061.2	-	4	854	c.722G>A	c.(721-723)tGt>tAt	p.C241Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	241					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTCTTCTGACACAGGAGCCT	0.572																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(721-723)tGt>tAt		zinc finger protein 425							89.0	91.0	90.0					7																	148802241		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802241C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.722G>A	7.37:g.148802241C>T	ENSP00000367300:p.Cys241Tyr						p.C241Y	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	854	-	Melanoma(164;0.15)		241					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.722G>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817918	0.32145	.	.	ENSG00000204947	ENST00000378061	T	0.07216	3.21	2.31	2.31	0.28768	.	.	.	.	.	T	0.06826	0.0174	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.50708	0.648	T	0.31166	-0.9953	9	0.87932	D	0	.	7.0373	0.25000	0.0:0.7143:0.2857:0.0	.	241	Q6IV72	ZN425_HUMAN	Y	241	ENSP00000367300:C241Y	ENSP00000367300:C241Y	C	-	2	0	ZNF425	148433174	0.000000	0.05858	0.009000	0.14445	0.757000	0.42996	0.207000	0.17395	1.625000	0.50366	0.655000	0.94253	TGT		0.572	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		9	136	0	0	0	1	0	9	136				
FMN2	56776	broad.mit.edu	37	1	240370909	240370909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:240370909C>T	ENST00000319653.9	+	5	3027	c.2797C>T	c.(2797-2799)Cct>Tct	p.P933S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	933	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGCATACTCCCTCTGCCCCC	0.687																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2797-2799)Cct>Tct		formin 2							39.0	46.0	44.0					1																	240370909		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370909C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2797C>T	1.37:g.240370909C>T	ENSP00000318884:p.Pro933Ser						p.P933S	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3027	+	Ovarian(103;0.127)	all_cancers(173;0.013)	933			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2797C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	6.985	0.551781	0.13374	.	.	ENSG00000155816	ENST00000319653	T	0.54675	0.56	3.01	1.05	0.20165	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.972034	0.08242	U	0.976017	T	0.48572	0.1507	M	0.76002	2.32	0.09310	N	0.999999	B	0.29909	0.261	B	0.27262	0.078	T	0.41288	-0.9517	9	.	.	.	.	4.8275	0.13423	0.0:0.6025:0.1771:0.2204	.	933	Q9NZ56	FMN2_HUMAN	S	933	ENSP00000318884:P933S	.	P	+	1	0	FMN2	238437532	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.060000	0.11712	0.297000	0.22615	0.484000	0.47621	CCT		0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	22	0	0	0	1	0	4	22				
TP53	7157	broad.mit.edu	37	17	7579435	7579435	+	Silent	SNP	G	G	A	rs549892645		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579435G>A	ENST00000269305.4	-	4	441	c.252C>T	c.(250-252)gcC>gcT	p.A84A	TP53_ENST00000420246.2_Silent_p.A84A|TP53_ENST00000445888.2_Silent_p.A84A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Silent_p.A84A|TP53_ENST00000413465.2_Silent_p.A84A|TP53_ENST00000455263.2_Silent_p.A84A	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	84	Interaction with WWOX.		A -> G (in sporadic cancers; somatic mutation).|A -> V (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.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A86fs*59(1)|p.A84A(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A84V(1)|p.A83fs*35(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)	CTGGTGCAGGGGCCGCCGGTG	0.617		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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		23	Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(4)|Substitution - Missense(1)|Substitution - coding silent(1)	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A86fs*59(1)|p.A84A(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A84V(1)|p.A83fs*35(1)	haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|lung(2)|stomach(1)|breast(1)|skin(1)|ovary(1)|prostate(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						c.(250-252)gcC>gcT	Other conserved DNA damage response genes	tumor protein p53							50.0	57.0	55.0					17																	7579435		2202	4299	6501	SO:0001819	synonymous_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579435G>A	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.252C>T	17.37:g.7579435G>A		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)				TP53_ENST00000413465.2_Silent_p.A84A|TP53_ENST00000455263.2_Silent_p.A84A|TP53_ENST00000445888.2_Silent_p.A84A|TP53_ENST00000359597.4_Silent_p.A84A|TP53_ENST00000269305.4_Silent_p.A84A	p.A84A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	384	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	84		A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).	Interaction with WWOX.		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	Silent	SNP	ENST00000269305.4	37	c.252C>T	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	123	0	0	0	1	0	9	123				
C16orf46	123775	broad.mit.edu	37	16	81095157	81095157	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:81095157G>T	ENST00000299578.5	-	4	1032	c.797C>A	c.(796-798)gCc>gAc	p.A266D	C16orf46_ENST00000444657.3_5'Flank|C16orf46_ENST00000378611.4_Missense_Mutation_p.A266D|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	266						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CAGCTCACTGGCTCTTTTTTC	0.547																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(796-798)gCc>gAc		chromosome 16 open reading frame 46							151.0	132.0	139.0					16																	81095157		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81095157G>T	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.797C>A	16.37:g.81095157G>T	ENSP00000299578:p.Ala266Asp					RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.A266D	p.A266D	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	912	-			266					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.797C>A	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	G	4.090	0.014741	0.07959	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.14766	2.48;2.48	5.27	2.61	0.31194	.	0.890957	0.09660	N	0.772584	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.20384	0.029;0.029	T	0.32161	-0.9917	10	0.59425	D	0.04	.	4.8368	0.13469	0.1491:0.0:0.5726:0.2782	.	266;266	Q6P387-2;Q6P387	.;CP046_HUMAN	D	266	ENSP00000367874:A266D;ENSP00000299578:A266D	ENSP00000299578:A266D	A	-	2	0	C16orf46	79652658	0.050000	0.20438	0.028000	0.17463	0.058000	0.15608	1.636000	0.37144	0.951000	0.37770	0.563000	0.77884	GCC		0.547	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		5	140	1	0	0.014758	1	0.0147669	5	140				
HOMER2	9455	broad.mit.edu	37	15	83521005	83521005	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:83521005C>T	ENST00000304231.8	-	7	877		c.e7-1		HOMER2_ENST00000399166.2_Intron|HOMER2_ENST00000450735.2_Splice_Site|HOMER2_ENST00000426485.1_Intron	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)						behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						GCTCATCAATCTTCAATACAC	0.458																																						ENST00000304231.8																			0				cervix(1)|endometrium(2)|lung(6)	9						c.e7-1		homer homolog 2 (Drosophila)							126.0	121.0	122.0					15																	83521005		2049	4205	6254	SO:0001630	splice_region_variant	0				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83521005C>T	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.685-1G>A	15.37:g.83521005C>T						HOMER2_ENST00000450735.2_Splice_Site|HOMER2_ENST00000426485.1_Intron|HOMER2_ENST00000399166.2_Intron		NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN			7	877	-								O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Splice_Site	SNP	ENST00000304231.8	37		CCDS45334.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993262	0.35131	.	.	ENSG00000103942	ENST00000304231;ENST00000450735	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2906	0.87154	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HOMER2	81318059	1.000000	0.71417	0.976000	0.42696	0.145000	0.21501	6.519000	0.73768	2.765000	0.95021	0.655000	0.94253	.		0.458	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1		Intron	15	16	0	0	0	1	0	15	16				
SFT2D2	375035	broad.mit.edu	37	1	168215839	168215839	+	3'UTR	SNP	C	C	T	rs553759120		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:168215839C>T	ENST00000271375.4	+	0	4616				ANKRD36BP1_ENST00000358576.4_RNA	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					CTGTAAATGACGCAATTTATC	0.398																																						ENST00000358576.4																			0				lung(1)	1																																												SO:0001624	3_prime_UTR_variant	0							g.chr1:168215839C>T	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.*4061C>T	1.37:g.168215839C>T								NR_026844.1						0	742	-									RNA	SNP	ENST00000271375.4	37		CCDS1271.1																																																																																				0.398	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		4	31	0	0	0	1	0	4	31				
USP30	84749	broad.mit.edu	37	12	109509416	109509416	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:109509416G>A	ENST00000257548.5	+	5	573		c.e5-1		USP30_ENST00000392784.2_Splice_Site	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCCTATGACAGGATGCTCACG	0.498																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.e5-1		ubiquitin specific peptidase 30							119.0	102.0	108.0					12																	109509416		2203	4300	6503	SO:0001630	splice_region_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109509416G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.481-1G>A	12.37:g.109509416G>A						USP30_ENST00000392784.2_Splice_Site		NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			5	573	+								Q8WTU7|Q96JX4|Q9BSS3	Splice_Site	SNP	ENST00000257548.5	37		CCDS9123.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099697	0.76983	.	.	ENSG00000135093	ENST00000392784;ENST00000257548;ENST00000536723;ENST00000536393	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3126	0.87213	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP30	107993799	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.871000	0.87180	2.421000	0.82119	0.462000	0.41574	.		0.498	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663	Intron	28	55	0	0	0	1	0	28	55				
NDUFA13	51079	broad.mit.edu	37	19	19625538	19625538	+	5'Flank	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19625538G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Silent_p.G233G|TSSK6_ENST00000585580.3_Silent_p.G233G|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						ACAGCTCGAGGCCTTCGGGAT	0.697																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(697-699)ggC>ggT		testis-specific serine kinase 6							29.0	32.0	31.0					19																	19625538		2199	4294	6493	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625538G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625538G>A	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.G233G	p.G233G			Q9BXA6	TSSK6_HUMAN			1	1300	-			233			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.699C>T	CCDS12404.2																																																																																				0.697	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		9	51	0	0	0	1	0	9	51				
CDH16	1014	broad.mit.edu	37	16	66946170	66946170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:66946170C>T	ENST00000299752.4	-	12	1716	c.1523G>A	c.(1522-1524)gGg>gAg	p.G508E	CDH16_ENST00000570262.1_Missense_Mutation_p.G428E|CDH16_ENST00000565796.1_Missense_Mutation_p.G508E|CDH16_ENST00000568632.1_Missense_Mutation_p.G411E|CDH16_ENST00000394055.3_Missense_Mutation_p.G508E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCTAACATGCCCAGAGTCTGG	0.587																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1522-1524)gGg>gAg		cadherin 16, KSP-cadherin							91.0	77.0	82.0					16																	66946170		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946170C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1523G>A	16.37:g.66946170C>T	ENSP00000299752:p.Gly508Glu					CDH16_ENST00000568632.1_Missense_Mutation_p.G411E|CDH16_ENST00000565796.1_Missense_Mutation_p.G508E|CDH16_ENST00000570262.1_Missense_Mutation_p.G428E|CDH16_ENST00000394055.3_Missense_Mutation_p.G508E	p.G508E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	12	1716	-		Ovarian(137;0.0563)	508			Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1523G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	6.341	0.431064	0.12045	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.69685	-0.42;-0.42	4.69	-1.87	0.07737	Cadherin (4);Cadherin-like (1);	0.981727	0.08370	N	0.956296	T	0.65439	0.2691	M	0.84773	2.715	0.09310	N	1	P;P;P	0.37061	0.465;0.521;0.58	B;B;B	0.38378	0.178;0.272;0.254	T	0.56294	-0.8003	10	0.42905	T	0.14	0.1062	4.2505	0.10693	0.0:0.3224:0.3188:0.3588	.	508;508;508	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	E	508;508;472	ENSP00000377619:G508E;ENSP00000299752:G508E	ENSP00000299752:G508E	G	-	2	0	CDH16	65503671	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.192000	0.09587	-0.498000	0.06632	0.462000	0.41574	GGG		0.587	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		29	38	0	0	0	1	0	29	38				
GCK	2645	broad.mit.edu	37	7	44186121	44186121	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44186121G>A	ENST00000403799.3	-	8	1429	c.960C>T	c.(958-960)gcC>gcT	p.A320A	GCK_ENST00000437084.1_Silent_p.A303A|GCK_ENST00000345378.2_Silent_p.A321A|GCK_ENST00000395796.3_Silent_p.A319A	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	320	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCTGCTCGGAGGCCTCCCCGT	0.647																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(958-960)gcC>gcT		glucokinase (hexokinase 4)							79.0	71.0	74.0					7																	44186121		2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44186121G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.960C>T	7.37:g.44186121G>A						GCK_ENST00000395796.3_Silent_p.A319A|GCK_ENST00000437084.1_Silent_p.A303A|GCK_ENST00000345378.2_Silent_p.A321A	p.A320A	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			8	1429	-			320					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.960C>T	CCDS5479.1																																																																																				0.647	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			26	78	0	0	0	1	0	26	78				
ID2	3398	broad.mit.edu	37	2	8822337	8822337	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:8822337C>T	ENST00000234091.4	+	3	902	c.42C>T	c.(40-42)agC>agT	p.S14S	ID2_ENST00000331129.3_Silent_p.S14S|ID2_ENST00000396290.1_Silent_p.S14S|AC011747.7_ENST00000455965.1_RNA			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	14					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGAAAAACAGCCTGTCGGACC	0.607																																						ENST00000234091.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(40-42)agC>agT		inhibitor of DNA binding 2, dominant negative helix-loop-helix protein							69.0	70.0	70.0					2																	8822337		2203	4300	6503	SO:0001819	synonymous_variant	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822337C>T		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.42C>T	2.37:g.8822337C>T						ID2_ENST00000331129.3_Silent_p.S14S|ID2_ENST00000396290.1_Silent_p.S14S	p.S14S			Q02363	ID2_HUMAN			3	902	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		14						Silent	SNP	ENST00000234091.4	37	c.42C>T	CCDS1659.1																																																																																				0.607	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		22	39	0	0	0	1	0	22	39				
BAGE2	85319	broad.mit.edu	37	21	11049601	11049601	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:11049601C>T	ENST00000470054.1	-	0	507							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGCACACTGCACAGTTTGCA	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							97.0	72.0	79.0					21																	11049601		692	1591	2283			85319							g.chr21:11049601C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049601C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	507	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		12	278	0	0	0	1	0	12	278				
CCT6P1	643253	broad.mit.edu	37	7	65223262	65223262	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:65223262G>A	ENST00000442266.1	+	0	756				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTCAAAGAAGGCATAGTCGCT	0.328																																						ENST00000442266.1																			0																																																			0							g.chr7:65223262G>A	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65223262G>A														0	756	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.328	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	24	0	0	0	1	0	3	24				
PASD1	139135	broad.mit.edu	37	X	150773163	150773163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:150773163C>T	ENST00000370357.4	+	3	319	c.74C>T	c.(73-75)cCa>cTa	p.P25L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	25						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGGATTCCATCATTTCCT	0.333																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(73-75)cCa>cTa		PAS domain containing 1							109.0	90.0	97.0					X																	150773163		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150773163C>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.74C>T	X.37:g.150773163C>T	ENSP00000359382:p.Pro25Leu						p.P25L	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			3	319	+	Acute lymphoblastic leukemia(192;6.56e-05)		25					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.74C>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785217	0.31593	.	.	ENSG00000166049	ENST00000370357	T	0.67865	-0.29	5.39	2.46	0.29980	.	.	.	.	.	T	0.65575	0.2704	M	0.77406	2.37	0.09310	N	1	P	0.50943	0.94	B	0.43809	0.432	T	0.59096	-0.7518	9	0.87932	D	0	.	5.2929	0.15737	0.0:0.6677:0.1698:0.1625	.	25	Q8IV76	PASD1_HUMAN	L	25	ENSP00000359382:P25L	ENSP00000359382:P25L	P	+	2	0	PASD1	150523819	0.016000	0.18221	0.000000	0.03702	0.008000	0.06430	1.891000	0.39738	0.077000	0.16863	0.499000	0.49734	CCA		0.333	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		25	43	0	0	0	1	0	25	43				
NUDT12	83594	broad.mit.edu	37	5	102890444	102890444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:102890444G>A	ENST00000230792.2	-	5	1171	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	NUDT12_ENST00000507423.1_Missense_Mutation_p.P341S|NUDT12_ENST00000515407.1_5'UTR	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	359	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GGCTTACCAGGCTCAATAAAT	0.313																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(1075-1077)Cct>Tct		nudix (nucleoside diphosphate linked moiety X)-type motif 12							51.0	50.0	50.0					5																	102890444		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102890444G>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1075C>T	5.37:g.102890444G>A	ENSP00000230792:p.Pro359Ser					NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Missense_Mutation_p.P341S	p.P359S	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	5	1171	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	359			Nudix hydrolase.		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.1075C>T	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.041062	0.93685	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.08807	3.05;3.05	5.62	5.62	0.85841	NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.048974	0.85682	D	0.000000	T	0.27454	0.0674	M	0.74467	2.265	0.80722	D	1	D;P	0.58268	0.982;0.925	P;P	0.57620	0.824;0.803	T	0.00529	-1.1687	10	0.72032	D	0.01	.	19.6452	0.95773	0.0:0.0:1.0:0.0	.	341;359	E7EM93;Q9BQG2	.;NUD12_HUMAN	S	359;341	ENSP00000230792:P359S;ENSP00000424521:P341S	ENSP00000230792:P359S	P	-	1	0	NUDT12	102918343	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.564000	0.82326	2.638000	0.89438	0.655000	0.94253	CCT		0.313	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		15	29	0	0	0	1	0	15	29				
RADIL	55698	broad.mit.edu	37	7	4841533	4841533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4841533G>A	ENST00000399583.3	-	12	2780	c.2593C>T	c.(2593-2595)Ccg>Tcg	p.P865S	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.P625S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	865	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTACGCTCCGGGGCCACTTCC	0.731																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2593-2595)Ccg>Tcg		Ras association and DIL domains							5.0	6.0	5.0					7																	4841533		1469	3473	4942	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4841533G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2593C>T	7.37:g.4841533G>A	ENSP00000382492:p.Pro865Ser					RADIL_ENST00000538469.1_Missense_Mutation_p.P625S|RADIL_ENST00000536091.1_3'UTR	p.P865S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	12	2780	-		Ovarian(82;0.0175)	865			Pro-rich.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.2593C>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	1.461	-0.562307	0.03939	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.07021	3.32;3.23	4.94	-1.86	0.07760	.	1.192850	0.06368	N	0.712981	T	0.03520	0.0101	N	0.15975	0.35	0.09310	N	0.999999	B;B	0.12630	0.0;0.006	B;B	0.04013	0.0;0.001	T	0.42816	-0.9429	10	0.07175	T	0.84	-0.0211	2.2828	0.04119	0.3317:0.1145:0.4265:0.1273	.	865;173	Q96JH8;Q75LH2	RADIL_HUMAN;.	S	865;836;599;625	ENSP00000382492:P865S;ENSP00000442966:P625S	ENSP00000320946:P836S	P	-	1	0	RADIL	4808059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.056000	0.11787	-0.079000	0.12707	-0.983000	0.02560	CCG		0.731	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		4	12	0	0	0	1	0	4	12				
PHKA2	5256	broad.mit.edu	37	X	18915431	18915431	+	Silent	SNP	C	C	T	rs376018294		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:18915431C>T	ENST00000379942.4	-	30	3797	c.3132G>A	c.(3130-3132)tcG>tcA	p.S1044S	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'Flank|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1044					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCCAGTGGGCGAGGATGGGG	0.662																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3130-3132)tcG>tcA		phosphorylase kinase, alpha 2 (liver)							66.0	46.0	53.0					X																	18915431		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18915431C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3132G>A	X.37:g.18915431C>T							p.S1044S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			30	3797	-	Hepatocellular(33;0.183)		1044					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.3132G>A	CCDS14190.1																																																																																				0.662	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		14	47	0	0	0	1	0	14	47				
H2AFY2	55506	broad.mit.edu	37	10	71859995	71859995	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:71859995G>A	ENST00000373255.4	+	7	984	c.720G>A	c.(718-720)gaG>gaA	p.E240E	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	240	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GGGGAAAAGAGTTCTTGGAAA	0.483																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(718-720)gaG>gaA		H2A histone family, member Y2							53.0	50.0	51.0					10																	71859995		2203	4300	6503	SO:0001819	synonymous_variant	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71859995G>A	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.720G>A	10.37:g.71859995G>A						AIFM2_ENST00000373248.1_Intron	p.E240E	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN			7	984	+			240			Macro.		Q5SQT2	Silent	SNP	ENST00000373255.4	37	c.720G>A	CCDS7296.1																																																																																				0.483	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		17	24	0	0	0	1	0	17	24				
DLGAP5	9787	broad.mit.edu	37	14	55618622	55618622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:55618622G>A	ENST00000247191.2	-	17	2375	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S720F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	720					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTCTCACTGGATAAACAATC	0.318																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(2158-2160)tCc>tTc		discs, large (Drosophila) homolog-associated protein 5							78.0	75.0	76.0					14																	55618622		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55618622G>A	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2159C>T	14.37:g.55618622G>A	ENSP00000247191:p.Ser720Phe					DLGAP5_ENST00000395425.2_Missense_Mutation_p.S720F	p.S720F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			17	2375	-			720					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.2159C>T	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024611	0.19433	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.33654	1.4;1.4	4.53	4.53	0.55603	.	1.860460	0.02671	N	0.108500	T	0.32224	0.0822	N	0.24115	0.695	0.09310	N	1	B;P	0.44195	0.371;0.828	B;B	0.36885	0.17;0.235	T	0.52230	-0.8603	10	0.87932	D	0	.	15.601	0.76626	0.0:0.0:1.0:0.0	.	720;720	A8MTM6;Q15398	.;DLGP5_HUMAN	F	720	ENSP00000378815:S720F;ENSP00000247191:S720F	ENSP00000247191:S720F	S	-	2	0	DLGAP5	54688375	0.168000	0.22989	0.012000	0.15200	0.006000	0.05464	2.984000	0.49353	2.456000	0.83038	0.655000	0.94253	TCC		0.318	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		17	30	0	0	0	1	0	17	30				
GATAD2A	54815	broad.mit.edu	37	19	19613183	19613183	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19613183G>A	ENST00000360315.3	+	11	1931	c.1619G>A	c.(1618-1620)gGt>gAt	p.G540D	GATAD2A_ENST00000429563.2_Missense_Mutation_p.G343D|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G169D|GATAD2A_ENST00000404158.1_Missense_Mutation_p.G541D|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G540D|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G515D	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	540					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						ACGCCCCGAGGTGTCCTGCAC	0.642																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1621-1623)gGt>gAt		GATA zinc finger domain containing 2A							69.0	71.0	71.0					19																	19613183		2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19613183G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1619G>A	19.37:g.19613183G>A	ENSP00000353463:p.Gly540Asp					GATAD2A_ENST00000429563.2_Missense_Mutation_p.G343D|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G540D|GATAD2A_ENST00000360315.3_Missense_Mutation_p.G540D|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G515D|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G169D	p.G541D			Q86YP4	P66A_HUMAN			13	2040	+			540					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1622G>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288104	0.80803	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.46063	1.26;1.45;1.26;0.88	5.23	5.23	0.72850	.	0.101242	0.64402	D	0.000002	T	0.59932	0.2230	M	0.68952	2.095	0.49483	D	0.999795	D;D;D	0.71674	0.964;0.995;0.998	P;P;P	0.60345	0.558;0.662;0.873	T	0.60244	-0.7301	10	0.45353	T	0.12	-21.7886	17.4151	0.87497	0.0:0.0:1.0:0.0	.	343;560;540	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	D	540;515;169;560;540;343	ENSP00000353463:G540D;ENSP00000252577:G515D;ENSP00000351552:G540D;ENSP00000388416:G343D	ENSP00000252577:G515D	G	+	2	0	GATAD2A	19474183	1.000000	0.71417	0.653000	0.29593	0.377000	0.30045	4.424000	0.59868	2.452000	0.82932	0.585000	0.79938	GGT		0.642	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		39	71	0	0	0	1	0	39	71				
IFNGR2	3460	broad.mit.edu	37	21	34787257	34787257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:34787257G>A	ENST00000290219.6	+	2	784	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	IFNGR2_ENST00000405436.1_5'UTR|IFNGR2_ENST00000381995.1_Missense_Mutation_p.V65I	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	46	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CGCAGAGCAGGTCCTGAGTTG	0.542																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(136-138)Gtc>Atc		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						94.0	94.0	94.0					21																	34787257		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34787257G>A		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.136G>A	21.37:g.34787257G>A	ENSP00000290219:p.Val46Ile					IFNGR2_ENST00000381995.1_Missense_Mutation_p.V65I|IFNGR2_ENST00000405436.1_5'UTR	p.V46I	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			2	784	+			46			Fibronectin type-III 1.		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.136G>A	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	G	3.479	-0.106297	0.06924	.	.	ENSG00000159128	ENST00000290219;ENST00000381995	T;T	0.71103	-0.54;-0.54	5.39	1.52	0.23074	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.225840	0.05742	N	0.601584	T	0.52175	0.1718	N	0.16567	0.415	0.80722	D	1	B;B	0.29552	0.061;0.248	B;B	0.29524	0.031;0.103	T	0.29366	-1.0014	9	.	.	.	-2.8829	5.2219	0.15373	0.18:0.3249:0.4951:0.0	.	65;46	E7EUY1;P38484	.;INGR2_HUMAN	I	46;65	ENSP00000290219:V46I;ENSP00000371425:V65I	.	V	+	1	0	IFNGR2	33709127	0.998000	0.40836	0.679000	0.29978	0.027000	0.11550	0.443000	0.21644	0.105000	0.17753	0.655000	0.94253	GTC		0.542	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			21	46	0	0	0	1	0	21	46				
RBM5	10181	broad.mit.edu	37	3	50131259	50131259	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:50131259G>A	ENST00000347869.3	+	4	465	c.290G>A	c.(289-291)aGc>aAc	p.S97N	RBM5_ENST00000469838.1_Missense_Mutation_p.S97N	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	97					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGAGGGAGAGCAAGACCATC	0.498																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(289-291)aGc>aAc		RNA binding motif protein 5							288.0	214.0	239.0					3																	50131259		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50131259G>A	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.290G>A	3.37:g.50131259G>A	ENSP00000343054:p.Ser97Asn					RBM5_ENST00000469838.1_Missense_Mutation_p.S97N	p.S97N	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	465	+			97					B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.290G>A	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285329	0.95517	.	.	ENSG00000003756	ENST00000347869;ENST00000469838;ENST00000441305;ENST00000437500;ENST00000417905;ENST00000543047;ENST00000539538	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.88	5.88	0.94601	Nucleotide-binding, alpha-beta plait (1);	0.039102	0.85682	D	0.000000	T	0.59689	0.2212	L	0.51422	1.61	0.80722	D	1	D;D	0.57899	0.981;0.978	D;P	0.65140	0.932;0.792	T	0.51301	-0.8723	9	.	.	.	-11.912	20.236	0.98356	0.0:0.0:1.0:0.0	.	97;97	P52756;E1CJT4	RBM5_HUMAN;.	N	97;97;97;97;97;96;96	ENSP00000343054:S97N;ENSP00000419534:S97N;ENSP00000390711:S97N;ENSP00000406119:S97N	.	S	+	2	0	RBM5	50106263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.173000	0.94815	2.799000	0.96334	0.637000	0.83480	AGC		0.498	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		45	61	0	0	0	1	0	45	61				
KDM5B	10765	broad.mit.edu	37	1	202715409	202715409	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:202715409C>T	ENST00000367265.3	-	15	3223	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	KDM5B_ENST00000367264.2_Missense_Mutation_p.D723N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	687					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGTTCATCATCTGGCAACAGC	0.403																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2059-2061)Gat>Aat		lysine (K)-specific demethylase 5B							175.0	157.0	163.0					1																	202715409		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202715409C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2059G>A	1.37:g.202715409C>T	ENSP00000356234:p.Asp687Asn					KDM5B_ENST00000367264.2_Missense_Mutation_p.D723N	p.D687N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			15	3223	-			687					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2059G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.920242	0.97105	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.87334	-2.12;-1.93;-2.24	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94269	0.7509	10	0.87932	D	0	-28.7959	20.8794	0.99867	0.0:1.0:0.0:0.0	.	723;687	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	687;529;723;529;56	ENSP00000356234:D687N;ENSP00000356233:D723N;ENSP00000235790:D529N	ENSP00000235790:D529N	D	-	1	0	KDM5B	200982032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAT		0.403	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		4	89	0	0	0	1	0	4	89				
SYNJ2	8871	broad.mit.edu	37	6	158490649	158490649	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158490649G>A	ENST00000355585.4	+	14	1959	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q	SYNJ2_ENST00000367122.2_Silent_p.Q628Q|SYNJ2_ENST00000367121.3_Silent_p.Q628Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	628					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTCGGCACAGCTGGTGGGCG	0.458																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1882-1884)caG>caA		synaptojanin 2							174.0	154.0	160.0					6																	158490649		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158490649G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1884G>A	6.37:g.158490649G>A						SYNJ2_ENST00000367122.2_Silent_p.Q628Q|SYNJ2_ENST00000367121.3_Silent_p.Q628Q	p.Q628Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	14	1959	+			628					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.1884G>A	CCDS5254.1																																																																																				0.458	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			5	46	0	0	0	1	0	5	46				
MED16	10025	broad.mit.edu	37	19	875243	875243	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:875243C>T	ENST00000589119.1	-	9	1771		c.e9+1		MED16_ENST00000606828.1_Splice_Site|MED16_ENST00000312090.6_Splice_Site|MED16_ENST00000325464.1_Splice_Site|MED16_ENST00000395808.3_Splice_Site|MED16_ENST00000269814.4_Splice_Site			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;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)		AAAGGACCCACCGACGTCGGT	0.502																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.e10+1		mediator complex subunit 16							42.0	50.0	48.0					19																	875243		2202	4296	6498	SO:0001630	splice_region_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:875243C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1771+1G>A	19.37:g.875243C>T						MED16_ENST00000589119.1_Splice_Site|MED16_ENST00000269814.4_Splice_Site|MED16_ENST00000606828.1_Splice_Site|MED16_ENST00000395808.3_Splice_Site|MED16_ENST00000325464.1_Splice_Site				Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1922	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)						Q6PJT2|Q96AD4|Q96I35|Q9Y652	Splice_Site	SNP	ENST00000589119.1	37		CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216707	0.39201	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8814	0.79207	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED16	826243	1.000000	0.71417	0.962000	0.40283	0.176000	0.22953	6.910000	0.75741	2.047000	0.60756	0.561000	0.74099	.		0.502	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481	Intron	24	48	0	0	0	1	0	24	48				
ERCC6	2074	broad.mit.edu	37	10	50740609	50740609	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:50740609C>T	ENST00000355832.5	-	2	480	c.402G>A	c.(400-402)cgG>cgA	p.R134R	ERCC6-PGBD3_ENST00000515869.1_Silent_p.R134R|PGBD3_ENST00000603152.1_Silent_p.R134R|ERCC6-PGBD3_ENST00000447839.2_Silent_p.R134R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	134			R -> W. {ECO:0000269|PubMed:18987736}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCAGGACCGACCGATACTCCT	0.532								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(400-402)cgG>cgA	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							124.0	98.0	107.0					10																	50740609		2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50740609C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.402G>A	10.37:g.50740609C>T						PGBD3_ENST00000603152.1_Silent_p.R134R|ERCC6-PGBD3_ENST00000515869.1_Silent_p.R134R|ERCC6-PGBD3_ENST00000447839.2_Silent_p.R134R	p.R134R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			2	480	-			134		R -> W.			D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	c.402G>A	CCDS7229.1																																																																																				0.532	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		4	52	0	0	0	1	0	4	52				
FOXP1	27086	broad.mit.edu	37	3	71096124	71096124	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:71096124C>T	ENST00000318789.4	-	10	1158	c.633G>A	c.(631-633)caG>caA	p.Q211Q	FOXP1_ENST00000493089.1_Silent_p.Q211Q|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000491238.1_Silent_p.Q213Q|FOXP1_ENST00000468577.1_Silent_p.Q211Q|FOXP1_ENST00000475937.1_Silent_p.Q211Q|FOXP1_ENST00000484350.1_Silent_p.Q135Q|FOXP1_ENST00000498215.1_Silent_p.Q211Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	211	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGGGCAGGCTGCCCGGGCT	0.527			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(631-633)caG>caA		forkhead box P1							172.0	176.0	174.0					3																	71096124		2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71096124C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.633G>A	3.37:g.71096124C>T						FOXP1_ENST00000493089.1_Silent_p.Q211Q|FOXP1_ENST00000491238.1_Silent_p.Q213Q|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000468577.1_Silent_p.Q211Q|FOXP1_ENST00000498215.1_Silent_p.Q211Q|FOXP1_ENST00000484350.1_Silent_p.Q135Q|FOXP1_ENST00000475937.1_Silent_p.Q211Q	p.Q211Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1158	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	211	GQP -> ARA (in Ref. 1; AAK69408).		Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.633G>A	CCDS2914.1																																																																																				0.527	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		5	241	0	0	0	1	0	5	241				
CXCL11	6373	broad.mit.edu	37	4	76956267	76956267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:76956267G>A	ENST00000503860.1	-	4	572	c.194C>T	c.(193-195)aCc>aTc	p.T65I	ART3_ENST00000341029.5_Intron|CXCL11_ENST00000306621.3_Missense_Mutation_p.T65I			O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11	65					cell-cell signaling (GO:0007267)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTTTCAGGGTAATACTGTT	0.328																																					Pancreas(31;57 931 1690 18027 37686)	ENST00000306621.3																			0				kidney(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(193-195)aCc>aTc		chemokine (C-X-C motif) ligand 11							146.0	143.0	144.0					4																	76956267		2202	4300	6502	SO:0001583	missense	6373				cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr4:76956267G>A	U66096	CCDS3574.1	4q21	2013-02-25	2002-08-22	2002-08-23	ENSG00000169248	ENSG00000169248		"""Endogenous ligands"""	10638	protein-coding gene	gene with protein product		604852	"""small inducible cytokine subfamily B (Cys-X-Cys), member 11"""	SCYB9B, SCYB11		9730616	Standard	NM_005409		Approved	H174, b-R1, I-TAC, IP-9	uc003hjm.3	O14625	OTTHUMG00000130101	ENST00000503860.1:c.194C>T	4.37:g.76956267G>A	ENSP00000425819:p.Thr65Ile					ART3_ENST00000341029.5_Intron|CXCL11_ENST00000503860.1_Missense_Mutation_p.T65I	p.T65I	NM_005409.4	NP_005400.1	O14625	CXL11_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	403	-			65					Q53YA3|Q92840	Missense_Mutation	SNP	ENST00000503860.1	37	c.194C>T	CCDS3574.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600746	0.13939	.	.	ENSG00000169248	ENST00000306621;ENST00000503860	T;T	0.05717	3.4;3.4	5.09	3.37	0.38596	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.56097	D	0.000029	T	0.07279	0.0184	.	.	.	0.25445	N	0.988051	B	0.25563	0.129	B	0.32624	0.149	T	0.24476	-1.0159	9	0.87932	D	0	-3.603	8.4486	0.32858	0.1827:0.0:0.8173:0.0	.	65	O14625	CXL11_HUMAN	I	65	ENSP00000306884:T65I;ENSP00000425819:T65I	ENSP00000306884:T65I	T	-	2	0	CXCL11	77175291	0.995000	0.38212	0.965000	0.40720	0.130000	0.20726	1.140000	0.31516	0.650000	0.30769	0.557000	0.71058	ACC		0.328	CXCL11-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362816.1			6	70	0	0	0	1	0	6	70				
MUC16	94025	broad.mit.edu	37	19	9091477	9091477	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9091477G>A	ENST00000397910.4	-	1	541	c.338C>T	c.(337-339)cCc>cTc	p.P113L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	113	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)				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						GTTCCTAGAGGGAGTTCCATT	0.512																																						ENST00000397910.4																			0				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						c.(337-339)cCc>cTc		mucin 16, cell surface associated							127.0	125.0	126.0					19																	9091477		1968	4155	6123	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091477G>A	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.338C>T	19.37:g.9091477G>A	ENSP00000381008:p.Pro113Leu						p.P113L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	541	-			113			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.338C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.393	-0.922634	0.02396	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	0.709	-1.42	0.08913	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	.	.	.	B	0.19706	0.038	B	0.12837	0.008	T	0.44190	-0.9344	7	0.87932	D	0	.	.	.	.	.	113	B5ME49	.	L	113	ENSP00000381008:P113L	ENSP00000381008:P113L	P	-	2	0	MUC16	8952477	0.001000	0.12720	0.003000	0.11579	0.019000	0.09904	-0.280000	0.08468	-0.910000	0.03847	-0.823000	0.03104	CCC		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	73	0	0	0	1	0	13	73				
MRE11A	4361	broad.mit.edu	37	11	94212043	94212043	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:94212043C>T	ENST00000323929.3	-	6	625		c.e6-1		MRE11A_ENST00000407439.3_Splice_Site|MRE11A_ENST00000393241.4_Splice_Site|MRE11A_ENST00000323977.3_Splice_Site|MRE11A_ENST00000540013.1_Splice_Site	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)						base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTGCATCTGCCTATGCAAAAT	0.358								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.e6-1	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							62.0	58.0	59.0					11																	94212043		2201	4298	6499	SO:0001630	splice_region_variant	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94212043C>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.403-1G>A	11.37:g.94212043C>T						MRE11A_ENST00000393241.4_Splice_Site|MRE11A_ENST00000323977.3_Splice_Site|MRE11A_ENST00000540013.1_Splice_Site|MRE11A_ENST00000407439.3_Splice_Site		NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			6	625	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)						O43475	Splice_Site	SNP	ENST00000323929.3	37		CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158332	0.78114	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7318	0.96183	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRE11A	93851691	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.699000	0.84547	2.664000	0.90586	0.453000	0.30009	.		0.358	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	Intron	7	48	0	0	0	1	0	7	48				
INSR	3643	broad.mit.edu	37	19	7163208	7163208	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:7163208G>A	ENST00000302850.5	-	9	2006	c.1864C>T	c.(1864-1866)Ccc>Tcc	p.P622S	AC010311.1_ENST00000581768.1_RNA|INSR_ENST00000341500.5_Missense_Mutation_p.P622S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	622					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)			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)"""	GGCACAGAGGGGTCTGTCAGG	0.502																																						ENST00000341500.5																			0				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						c.(1864-1866)Ccc>Tcc		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						111.0	121.0	118.0					19																	7163208		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7163208G>A	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.1864C>T	19.37:g.7163208G>A	ENSP00000303830:p.Pro622Ser					INSR_ENST00000302850.5_Missense_Mutation_p.P622S	p.P622S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			9	1903	-			622			Fibronectin type-III 1.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.1864C>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984693	0.53934	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.81908	-1.55;-1.55	4.45	4.45	0.53987	Fibronectin, type III (3);	0.000000	0.41500	U	0.000878	D	0.92519	0.7624	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.995	D	0.94202	0.7451	10	0.87932	D	0	.	14.9538	0.71094	0.0:0.0:1.0:0.0	.	613;622;622	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	S	622	ENSP00000303830:P622S;ENSP00000342838:P622S	ENSP00000303830:P622S	P	-	1	0	INSR	7114208	1.000000	0.71417	0.832000	0.32986	0.013000	0.08279	8.980000	0.93460	2.178000	0.69098	0.655000	0.94253	CCC		0.502	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			7	112	0	0	0	1	0	7	112				
CLIP1	6249	broad.mit.edu	37	12	122862015	122862015	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:122862015C>T	ENST00000540338.1	-	2	619	c.578G>A	c.(577-579)aGt>aAt	p.S193N	CLIP1_ENST00000358808.2_Missense_Mutation_p.S193N|CLIP1_ENST00000302528.7_Missense_Mutation_p.S193N|CLIP1_ENST00000361654.4_Missense_Mutation_p.S193N|CLIP1_ENST00000537178.1_Missense_Mutation_p.S193N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	193	Ser-rich.			S -> G (in Ref. 3; AAI14214). {ECO:0000305}.	microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GATAGATTCACTGGCAGTTTT	0.478																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(577-579)aGt>aAt		CAP-GLY domain containing linker protein 1							171.0	158.0	162.0					12																	122862015		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862015C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.578G>A	12.37:g.122862015C>T	ENSP00000439093:p.Ser193Asn					CLIP1_ENST00000302528.7_Missense_Mutation_p.S193N|CLIP1_ENST00000361654.4_Missense_Mutation_p.S193N|CLIP1_ENST00000537178.1_Missense_Mutation_p.S193N|CLIP1_ENST00000540338.1_Missense_Mutation_p.S193N	p.S193N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	3	732	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		193	S -> G (in Ref. 3; AAI14214).		Ser-rich.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.578G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051844	0.55218	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	M	0.76002	2.32	0.80722	D	1	P;D;D;P	0.58970	0.796;0.984;0.984;0.933	P;D;D;P	0.70227	0.795;0.968;0.968;0.812	T	0.82688	-0.0333	10	0.30078	T	0.28	-11.9795	20.0912	0.97820	0.0:1.0:0.0:0.0	.	193;193;193;193	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	N	193;193;38;193;193;193;193	ENSP00000303585:S193N;ENSP00000351665:S193N;ENSP00000445531:S193N;ENSP00000439093:S193N;ENSP00000437786:S193N;ENSP00000441409:S193N	ENSP00000303585:S193N	S	-	2	0	CLIP1	121427968	1.000000	0.71417	0.985000	0.45067	0.938000	0.57974	7.621000	0.83083	2.746000	0.94184	0.591000	0.81541	AGT		0.478	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		72	153	0	0	0	1	0	72	153				
KIF17	57576	broad.mit.edu	37	1	21031284	21031284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:21031284G>A	ENST00000247986.2	-	5	1089	c.779C>T	c.(778-780)gCc>gTc	p.A260V	KIF17_ENST00000400463.3_Missense_Mutation_p.A260V|KIF17_ENST00000375044.1_Missense_Mutation_p.A160V			Q9P2E2	KIF17_HUMAN	kinesin family member 17	260	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GATCTTGGTGGCCTCCTTGAG	0.677																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(778-780)gCc>gTc		kinesin family member 17							58.0	61.0	60.0					1																	21031284		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031284G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.779C>T	1.37:g.21031284G>A	ENSP00000247986:p.Ala260Val					KIF17_ENST00000375044.1_Missense_Mutation_p.A160V|KIF17_ENST00000400463.3_Missense_Mutation_p.A260V	p.A260V			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1089	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	260			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.779C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	36	5.864192	0.97043	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.74526	-0.85;-0.85;-0.85	5.35	5.35	0.76521	Kinesin, motor domain (4);	0.000000	0.32416	U	0.006139	D	0.91369	0.7277	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.94125	0.7383	10	0.87932	D	0	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	260;260	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	V	160;260;260	ENSP00000364184:A160V;ENSP00000383311:A260V;ENSP00000247986:A260V	ENSP00000247986:A260V	A	-	2	0	KIF17	20903871	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.671000	0.90904	0.462000	0.41574	GCC		0.677	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		42	59	0	0	0	1	0	42	59				
GABRG1	2565	broad.mit.edu	37	4	46043234	46043234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:46043234G>A	ENST00000295452.4	-	9	1336	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	390					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATTATTCATTGGAATCAGAGT	0.393																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1168-1170)cCa>cTa		gamma-aminobutyric acid (GABA) A receptor, gamma 1							66.0	69.0	68.0					4																	46043234		2203	4299	6502	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043234G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1169C>T	4.37:g.46043234G>A	ENSP00000295452:p.Pro390Leu						p.P390L	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1336	-			390					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1169C>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175979	0.38413	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83163	-1.69	5.46	5.46	0.80206	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.116668	0.64402	D	0.000013	T	0.67088	0.2856	N	0.08118	0	0.54753	D	0.999989	B	0.17268	0.021	B	0.20184	0.028	T	0.62718	-0.6795	10	0.18276	T	0.48	.	13.2924	0.60278	0.0:0.0:0.8418:0.1582	.	390	Q8N1C3	GBRG1_HUMAN	L	390	ENSP00000295452:P390L	ENSP00000295452:P390L	P	-	2	0	GABRG1	45737991	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	3.146000	0.50631	2.553000	0.86117	0.585000	0.79938	CCA		0.393	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		3	57	0	0	0	1	0	3	57				
EPHA2	1969	broad.mit.edu	37	1	16460069	16460069	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16460069G>A	ENST00000358432.5	-	10	1925	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	591					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TATGTGTGGGGGTCCACGTAT	0.587																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1771-1773)Ccc>Tcc		EPH receptor A2	Dasatinib(DB01254)						82.0	76.0	78.0					1																	16460069		2203	4299	6502	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16460069G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1771C>T	1.37:g.16460069G>A	ENSP00000351209:p.Pro591Ser						p.P591S	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	10	1925	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	591					B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1771C>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171380	0.94807	.	.	ENSG00000142627	ENST00000358432	T	0.36340	1.26	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000022	T	0.70509	0.3232	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77302	-0.2638	10	0.87932	D	0	.	18.7406	0.91772	0.0:0.0:1.0:0.0	.	591	P29317	EPHA2_HUMAN	S	591	ENSP00000351209:P591S	ENSP00000351209:P591S	P	-	1	0	EPHA2	16332656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.864000	0.99589	2.766000	0.95052	0.655000	0.94253	CCC		0.587	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		6	52	0	0	0	1	0	6	52				
SLC12A4	6560	broad.mit.edu	37	16	67997378	67997378	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67997378G>A	ENST00000316341.3	-	2	340	c.200C>T	c.(199-201)gCa>gTa	p.A67V	SLC12A4_ENST00000537830.2_Missense_Mutation_p.A61V|SLC12A4_ENST00000572037.1_Intron|SLC12A4_ENST00000422611.2_Intron|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A36V|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A67V|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A67V	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	67					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCAAACAGTGCCAGGTTCCT	0.547																																						ENST00000316341.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(199-201)gCa>gTa		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						73.0	68.0	70.0					16																	67997378		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67997378G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.200C>T	16.37:g.67997378G>A	ENSP00000318557:p.Ala67Val					SLC12A4_ENST00000338335.3_Missense_Mutation_p.A67V|SLC12A4_ENST00000422611.2_Intron|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A36V|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A61V|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000572037.1_Intron|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A67V	p.A67V	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	2	340	-		Ovarian(137;0.192)	67					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.200C>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646276	0.96704	.	.	ENSG00000124067	ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D	0.90004	-2.02;-2.03;-2.6;-2.04	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93986	0.8074	M	0.69248	2.105	0.80722	D	1	P;D;P;D;B	0.76494	0.918;0.999;0.816;0.998;0.178	B;D;P;D;B	0.87578	0.403;0.998;0.508;0.939;0.311	D	0.94252	0.7494	10	0.66056	D	0.02	.	18.9855	0.92767	0.0:0.0:1.0:0.0	.	67;36;61;67;67	B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;S12A4_HUMAN	V	36;61;67;67	ENSP00000438334:A36V;ENSP00000445962:A61V;ENSP00000343374:A67V;ENSP00000318557:A67V	ENSP00000318557:A67V	A	-	2	0	SLC12A4	66554879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.385000	0.97223	2.491000	0.84063	0.462000	0.41574	GCA		0.547	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		4	78	0	0	0	1	0	4	78				
CHAF1B	8208	broad.mit.edu	37	21	37785507	37785507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:37785507C>T	ENST00000314103.5	+	12	1538	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	463					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CTTGCCGGGGCCTTCGGAGGA	0.622																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1387-1389)Cct>Tct		chromatin assembly factor 1, subunit B (p60)							29.0	30.0	29.0					21																	37785507		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37785507C>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1387C>T	21.37:g.37785507C>T	ENSP00000315700:p.Pro463Ser						p.P463S	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			12	1538	+			463					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1387C>T	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	C	3.017	-0.202633	0.06219	.	.	ENSG00000159259	ENST00000314103	T	0.42513	0.97	4.52	-0.117	0.13551	.	1.466580	0.03529	N	0.222161	T	0.19685	0.0473	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22591	-1.0212	10	0.02654	T	1	-4.1565	7.6731	0.28470	0.0:0.5528:0.0:0.4472	.	463	Q13112	CAF1B_HUMAN	S	463	ENSP00000315700:P463S	ENSP00000315700:P463S	P	+	1	0	CHAF1B	36707377	0.011000	0.17503	0.001000	0.08648	0.054000	0.15201	0.889000	0.28282	-0.045000	0.13468	0.558000	0.71614	CCT		0.622	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		7	23	0	0	0	1	0	7	23				
EYA2	2139	broad.mit.edu	37	20	45633715	45633715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:45633715C>T	ENST00000327619.5	+	4	664	c.290C>T	c.(289-291)cCt>cTt	p.P97L	EYA2_ENST00000357410.3_Missense_Mutation_p.P97L|EYA2_ENST00000317304.6_Missense_Mutation_p.P97L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	97					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TATGGAATCCCTTCCTACAGT	0.507																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(289-291)cCt>cTt		eyes absent homolog 2 (Drosophila)							82.0	74.0	77.0					20																	45633715		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45633715C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.290C>T	20.37:g.45633715C>T	ENSP00000333640:p.Pro97Leu					EYA2_ENST00000317304.6_Missense_Mutation_p.P97L|EYA2_ENST00000357410.3_Missense_Mutation_p.P97L	p.P97L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			4	664	+		Myeloproliferative disorder(115;0.0241)	97					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.290C>T	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808409	0.90707	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.94723	-3.34;-3.03;-3.5;-0.95	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.96996	0.9019	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;0.994;0.994	D;P;P;P	0.91635	0.999;0.77;0.836;0.823	D	0.97409	1.0001	10	0.87932	D	0	-22.9713	18.2443	0.89979	0.0:1.0:0.0:0.0	.	97;97;97;97	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	L	97;97;97;97;50	ENSP00000333640:P97L;ENSP00000349986:P97L;ENSP00000321590:P97L;ENSP00000395427:P50L	ENSP00000321590:P97L	P	+	2	0	EYA2	45067122	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.985000	0.76193	2.608000	0.88229	0.561000	0.74099	CCT		0.507	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		8	51	0	0	0	1	0	8	51				
FANCM	57697	broad.mit.edu	37	14	45644437	45644437	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45644437C>T	ENST00000267430.5	+	14	2565	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	FANCM_ENST00000542564.2_Missense_Mutation_p.S801F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	827					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GGCAGTTCATCCTCAGTGATA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2479-2481)tCc>tTc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							69.0	65.0	67.0					14																	45644437		2203	4298	6501	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45644437C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2480C>T	14.37:g.45644437C>T	ENSP00000267430:p.Ser827Phe					FANCM_ENST00000542564.2_Missense_Mutation_p.S801F	p.S827F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	2565	+			827					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.2480C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.331964	0.01298	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18960	2.78;2.77;2.18	5.23	-0.319	0.12725	.	1.788400	0.02229	N	0.064731	T	0.08492	0.0211	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.29610	-1.0006	10	0.09338	T	0.73	.	9.3335	0.38036	0.0:0.6352:0.0:0.3648	.	801;827	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	F	827;801;343	ENSP00000267430:S827F;ENSP00000442493:S801F;ENSP00000452033:S343F	ENSP00000267430:S827F	S	+	2	0	FANCM	44714187	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.200000	0.09478	0.044000	0.15775	-0.482000	0.04802	TCC		0.313	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		16	24	0	0	0	1	0	16	24				
ZNF786	136051	broad.mit.edu	37	7	148769302	148769302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:148769302G>A	ENST00000491431.1	-	4	626	c.562C>T	c.(562-564)Cct>Tct	p.P188S	ZNF786_ENST00000316286.9_Missense_Mutation_p.P102S|ZNF786_ENST00000451334.3_Missense_Mutation_p.P151S	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACAGGCCAAGGGTGCTGGGTG	0.562																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(304-306)Cct>Tct		zinc finger protein 786							24.0	28.0	27.0					7																	148769302		1948	4138	6086	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769302G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.562C>T	7.37:g.148769302G>A	ENSP00000417470:p.Pro188Ser					ZNF786_ENST00000491431.1_Missense_Mutation_p.P188S|ZNF786_ENST00000451334.3_Missense_Mutation_p.P151S	p.P102S			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	576	-	Melanoma(164;0.15)		188					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.304C>T	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	G	1.469	-0.560337	0.03939	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.10288	2.89;3.17;3.01	4.41	0.454	0.16644	Zinc finger, C2H2-like (1);	0.449855	0.16767	N	0.200365	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.24043	0.096	B	0.22386	0.039	T	0.35151	-0.9800	10	0.59425	D	0.04	-0.6011	7.9439	0.29974	0.3813:0.0:0.6187:0.0	.	188	Q8N393	ZN786_HUMAN	S	102;102;188;151	ENSP00000313516:P102S;ENSP00000417470:P188S;ENSP00000404984:P151S	ENSP00000313516:P102S	P	-	1	0	ZNF786	148400235	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.026000	0.13599	0.149000	0.19098	0.561000	0.74099	CCT		0.562	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		7	20	0	0	0	1	0	7	20				
KHSRP	8570	broad.mit.edu	37	19	6426408	6426408	+	5'Flank	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:6426408C>T	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.G369S	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GCCTATATGCCCAGGGTTTTC	0.577																																					Colon(55;593 1006 2067 9135 22980)	ENST00000321510.6																			0				large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(1105-1107)Ggc>Agc		solute carrier family 25, member 41							83.0	81.0	82.0					19																	6426408		2034	4208	6242	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6426408C>T	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6426408C>T	Exception_encountered						p.G369S	NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN			7	1173	-			369					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.1105G>A	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462936	0.84425	.	.	ENSG00000181240	ENST00000321510	D	0.85484	-1.99	4.7	3.63	0.41609	.	.	.	.	.	D	0.89181	0.6642	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88926	0.3369	9	0.52906	T	0.07	.	12.8658	0.57937	0.1646:0.8354:0.0:0.0	.	369	Q8N5S1	S2541_HUMAN	S	369	ENSP00000322649:G369S	ENSP00000322649:G369S	G	-	1	0	SLC25A41	6377408	1.000000	0.71417	0.984000	0.44739	0.954000	0.61252	3.498000	0.53302	1.127000	0.42034	0.563000	0.77884	GGC		0.577	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			4	36	0	0	0	1	0	4	36				
TTN	7273	broad.mit.edu	37	2	179426425	179426425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179426425G>A	ENST00000591111.1	-	276	79735	c.79511C>T	c.(79510-79512)gCt>gTt	p.A26504V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A19205V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A28145V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A19080V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A19272V|TTN_ENST00000342992.6_Missense_Mutation_p.A25577V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26504	Fibronectin type-III 92. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAACAACAGCTGAAGATTC	0.463																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(84433-84435)gCt>gTt		titin							92.0	93.0	93.0					2																	179426425		1897	4118	6015	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179426425G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79511C>T	2.37:g.179426425G>A	ENSP00000465570:p.Ala26504Val					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A26504V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A19272V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A19080V|TTN_ENST00000359218.5_Missense_Mutation_p.A19205V|TTN_ENST00000342992.6_Missense_Mutation_p.A25577V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.A28145V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	84658	-			26504			Fibronectin type-III 105.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.84434C>T		.	.	.	.	.	.	.	.	.	.	G	14.70	2.614679	0.46631	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	6.01	5.12	0.69794	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36413	0.0966	N	0.20685	0.6	0.40088	D	0.976225	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.18935	-1.0321	9	0.87932	D	0	.	15.6488	0.77076	0.0664:0.0:0.9336:0.0	.	19080;19205;19272;26504	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	25577;19080;19272;19205;19078	ENSP00000343764:A25577V;ENSP00000434586:A19080V;ENSP00000340554:A19272V;ENSP00000352154:A19205V	ENSP00000340554:A19272V	A	-	2	0	TTN	179134671	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.691000	0.74573	1.524000	0.49035	0.585000	0.79938	GCT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	35	0	0	0	1	0	3	35				
SGK223	157285	broad.mit.edu	37	8	8234366	8234366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:8234366C>T	ENST00000520004.1	-	3	1817	c.1553G>A	c.(1552-1554)gGg>gAg	p.G518E	SGK223_ENST00000330777.4_Missense_Mutation_p.G518E			Q86YV5	SG223_HUMAN		520							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGCCCCTGCCCAGCCGAAGT	0.627																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(1552-1554)gGg>gAg									20.0	23.0	22.0					8																	8234366		2058	4192	6250	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234366C>T																												ENST00000520004.1:c.1553G>A	8.37:g.8234366C>T	ENSP00000428054:p.Gly518Glu					SGK223_ENST00000330777.4_Missense_Mutation_p.G518E	p.G518E			Q86YV5	SG223_HUMAN			3	1817	-			518					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.1553G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	0.145	-1.097955	0.01843	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56103	0.48;0.48	4.69	1.77	0.24775	.	1.222550	0.05805	N	0.612989	T	0.41673	0.1169	L	0.54323	1.7	0.09310	N	1	B	0.28713	0.22	B	0.24006	0.05	T	0.22977	-1.0201	10	0.08179	T	0.78	.	4.9555	0.14036	0.1508:0.6177:0.1464:0.0852	.	518	Q86YV5	SG223_HUMAN	E	518	ENSP00000330930:G518E;ENSP00000428054:G518E	ENSP00000330930:G518E	G	-	2	0	AC068353.1	8271776	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-1.033000	0.03571	0.500000	0.27991	0.655000	0.94253	GGG		0.627	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			12	21	0	0	0	1	0	12	21				
MED13	9969	broad.mit.edu	37	17	60030340	60030340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:60030340C>T	ENST00000397786.2	-	27	6179	c.6103G>A	c.(6103-6105)Ggt>Agt	p.G2035S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2035					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)			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						CCCGCATCACCTCCATGGGGG	0.498																																						ENST00000397786.2																			0				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						c.(6103-6105)Ggt>Agt		mediator complex subunit 13							131.0	130.0	130.0					17																	60030340		1887	4110	5997	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60030340C>T	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.6103G>A	17.37:g.60030340C>T	ENSP00000380888:p.Gly2035Ser						p.G2035S	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			27	6179	-			2035					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.6103G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024835	0.35701	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	5.38	4.42	0.53409	.	0.096119	0.64402	N	0.000001	T	0.80099	0.4561	M	0.66939	2.045	0.80722	D	1	B	0.31989	0.35	B	0.31614	0.133	T	0.75706	-0.3224	10	0.19590	T	0.45	-5.7593	14.029	0.64604	0.0:0.9272:0.0:0.0728	.	2035	Q9UHV7	MED13_HUMAN	S	2035;2034	ENSP00000380888:G2035S	ENSP00000262436:G2034S	G	-	1	0	MED13	57385122	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	4.691000	0.61738	1.254000	0.44035	0.563000	0.77884	GGT		0.498	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		20	95	0	0	0	1	0	20	95				
TLR4	7099	broad.mit.edu	37	9	120476596	120476596	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:120476596C>T	ENST00000355622.6	+	3	2291	c.2190C>T	c.(2188-2190)agC>agT	p.S730S	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.S690S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	730	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TCCATAAAAGCCGAAAGGTGA	0.493																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(2188-2190)agC>agT		toll-like receptor 4							86.0	89.0	88.0					9																	120476596		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476596C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2190C>T	9.37:g.120476596C>T						TLR4_ENST00000394487.4_Silent_p.S690S|TLR4_ENST00000472304.1_3'UTR	p.S730S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	2291	+			730			TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.2190C>T	CCDS6818.1																																																																																				0.493	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		21	36	0	0	0	1	0	21	36				
NIPA1	123606	broad.mit.edu	37	15	23052667	23052667	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:23052667G>A	ENST00000337435.4	-	4	430	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	NIPA1_ENST00000437912.2_Silent_p.L61L|NIPA1_ENST00000538684.1_5'UTR|NIPA1_ENST00000561183.1_Silent_p.L61L	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	136					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TGGATAATCAGCACGACGGAG	0.488																																						ENST00000437912.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(181-183)Ctg>Ttg		non imprinted in Prader-Willi/Angelman syndrome 1							142.0	133.0	136.0					15																	23052667		2203	4300	6503	SO:0001819	synonymous_variant	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23052667G>A	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.406C>T	15.37:g.23052667G>A						NIPA1_ENST00000538684.1_5'UTR|NIPA1_ENST00000561183.1_Silent_p.L61L|NIPA1_ENST00000337435.4_Silent_p.L136L	p.L61L			Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	4	1478	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	136					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Silent	SNP	ENST00000337435.4	37	c.181C>T	CCDS10011.1																																																																																				0.488	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		30	134	0	0	0	1	0	30	134				
SCN4A	6329	broad.mit.edu	37	17	62020327	62020327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:62020327C>T	ENST00000435607.1	-	23	4223	c.4147G>A	c.(4147-4149)Gac>Aac	p.D1383N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D1383N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1383					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACAGGATGTCCACCTTGAGC	0.527																																						ENST00000578147.1																			0				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						c.(4147-4149)Gac>Aac		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						241.0	223.0	229.0					17																	62020327		2203	4300	6503	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62020327C>T	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.4147G>A	17.37:g.62020327C>T	ENSP00000396320:p.Asp1383Asn					SCN4A_ENST00000435607.1_Missense_Mutation_p.D1383N	p.D1383N			P35499	SCN4A_HUMAN			23	4223	-			1383					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4147G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	3.171	-0.170026	0.06461	.	.	ENSG00000007314	ENST00000435607	D	0.97404	-4.37	3.87	2.9	0.33743	.	0.229418	0.42682	D	0.000667	D	0.87744	0.6254	N	0.04669	-0.19	0.39242	D	0.963879	B	0.14805	0.011	B	0.14023	0.01	T	0.82424	-0.0464	10	0.02654	T	1	.	8.0151	0.30376	0.1623:0.7445:0.0:0.0932	.	1383	P35499	SCN4A_HUMAN	N	1383	ENSP00000396320:D1383N	ENSP00000396320:D1383N	D	-	1	0	SCN4A	59374059	0.340000	0.24792	1.000000	0.80357	0.995000	0.86356	0.197000	0.17197	2.165000	0.68154	0.462000	0.41574	GAC		0.527	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		47	73	0	0	0	1	0	47	73				
PIM3	415116	broad.mit.edu	37	22	50356444	50356444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50356444G>A	ENST00000360612.4	+	5	1159	c.724G>A	c.(724-726)Gac>Aac	p.D242N		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGTGTGGGGACATCCCCTT	0.682																																						ENST00000360612.4																			0											c.(724-726)Gac>Aac		pim-3 oncogene							70.0	73.0	72.0					22																	50356444		2203	4300	6503	SO:0001583	missense	415116				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:50356444G>A	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.724G>A	22.37:g.50356444G>A	ENSP00000353824:p.Asp242Asn						p.D242N	NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)	5	1159	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	242			Protein kinase.		A5D8X8|A8K7J0|B1B0P0|Q68BM2	Missense_Mutation	SNP	ENST00000360612.4	37	c.724G>A	CCDS33678.1	.	.	.	.	.	.	.	.	.	.	g	31	5.092001	0.94149	.	.	ENSG00000198355	ENST00000360612	T	0.64991	-0.13	4.47	4.47	0.54385	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.57080	0.2029	N	0.01779	-0.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73225	-0.4050	10	0.66056	D	0.02	.	16.2908	0.82750	0.0:0.0:1.0:0.0	.	242	Q86V86	PIM3_HUMAN	N	242	ENSP00000353824:D242N	ENSP00000353824:D242N	D	+	1	0	PIM3	48742448	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.015000	0.76387	2.312000	0.78011	0.604000	0.83254	GAC		0.682	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	NM_001001852		25	34	0	0	0	1	0	25	34				
OBSL1	23363	broad.mit.edu	37	2	220421232	220421232	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220421232C>T	ENST00000404537.1	-	13	4336	c.4280G>A	c.(4279-4281)gGg>gAg	p.G1427E	OBSL1_ENST00000265317.5_Missense_Mutation_p.G326E|OBSL1_ENST00000603926.1_Missense_Mutation_p.G1427E|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Missense_Mutation_p.G1335E|OBSL1_ENST00000265318.4_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1427	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGTCACGGTCCCTGCATCCCC	0.617																																						ENST00000404537.1																			0											c.(4279-4281)gGg>gAg		obscurin-like 1							91.0	97.0	95.0					2																	220421232		2080	4199	6279	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220421232C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4280G>A	2.37:g.220421232C>T	ENSP00000385636:p.Gly1427Glu					OBSL1_ENST00000603926.1_Missense_Mutation_p.G1427E|OBSL1_ENST00000265317.5_Missense_Mutation_p.G326E|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.G1335E	p.G1427E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	13	4336	-		Renal(207;0.0376)	1427			Ig-like 12.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.4280G>A	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.86|12.86	2.063091|2.063091	0.36373|0.36373	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000404537;ENST00000373876;ENST00000265317|ENST00000456147	T;T;T|T	0.80909|0.81247	2.31;-1.43;-1.43|-1.47	4.51|4.51	4.51|4.51	0.55191|0.55191	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	D|D	0.92606|0.92606	0.7651|0.7651	H|H	0.96111|0.96111	3.77|3.77	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|.	1.0;1.0;0.996;1.0|.	D|D	0.94693|0.94693	0.7876|0.7876	9|7	0.87932|0.87932	D|D	0|0	.|.	14.6894|14.6894	0.69072|0.69072	0.0:0.8548:0.1452:0.0|0.0:0.8548:0.1452:0.0	.|.	234;1428;1427;326|.	B7Z5P5;A4KVA4;O75147;E7ER99|.	.;.;OBSL1_HUMAN;.|.	E|R	1427;1335;326|329	ENSP00000385636:G1427E;ENSP00000362983:G1335E;ENSP00000265317:G326E|ENSP00000403665:G329R	ENSP00000265317:G326E|ENSP00000403665:G329R	G|G	-|-	2|1	0|0	OBSL1|OBSL1	220129476|220129476	1.000000|1.000000	0.71417|0.71417	0.097000|0.097000	0.21041|0.21041	0.017000|0.017000	0.09413|0.09413	2.647000|2.647000	0.46639|0.46639	2.347000|2.347000	0.79759|0.79759	0.491000|0.491000	0.48974|0.48974	GGG|GGA		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			35	50	0	0	0	1	0	35	50				
SETD5	55209	broad.mit.edu	37	3	9512224	9512224	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9512224C>T	ENST00000406341.1	+	18	2996	c.2806C>T	c.(2806-2808)Cta>Tta	p.L936L	SETD5_ENST00000302463.6_Silent_p.L838L|SETD5_ENST00000407969.1_Silent_p.L955L|SETD5_ENST00000402466.1_Silent_p.L838L|SETD5_ENST00000402198.1_Silent_p.L936L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	936										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TAGACCTTCCCTACTCAACTC	0.478																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2512-2514)Cta>Tta		SET domain containing 5							200.0	189.0	192.0					3																	9512224		1931	4133	6064	SO:0001819	synonymous_variant	55209							g.chr3:9512224C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2806C>T	3.37:g.9512224C>T						SETD5_ENST00000407969.1_Silent_p.L955L|SETD5_ENST00000406341.1_Silent_p.L936L|SETD5_ENST00000302463.6_Silent_p.L838L|SETD5_ENST00000402198.1_Silent_p.L936L	p.L838L			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	20	3280	+	Medulloblastoma(99;0.227)		936					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.2512C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	7.457	0.643902	0.14451	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.31	3.11	0.35812	.	.	.	.	.	T	0.55449	0.1921	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50923	-0.8770	4	.	.	.	-0.2171	6.7049	0.23244	0.2767:0.594:0.0:0.1293	.	.	.	.	L	603;266	.	.	P	+	2	0	SETD5	9487224	0.940000	0.31905	1.000000	0.80357	0.982000	0.71751	1.414000	0.34736	1.189000	0.43028	0.585000	0.79938	CCT		0.478	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		4	193	0	0	0	1	0	4	193				
CNTNAP1	8506	broad.mit.edu	37	17	40840992	40840992	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:40840992C>T	ENST00000264638.4	+	10	1772	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	519	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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)		ACTGGTCAACCTGACTCTGGT	0.557																																						ENST00000264638.4																			0				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						c.(1555-1557)Ctg>Ttg		contactin associated protein 1							143.0	129.0	134.0					17																	40840992		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40840992C>T	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.1555C>T	17.37:g.40840992C>T						CTD-3193K9.3_ENST00000592440.1_RNA	p.L519L	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	10	1772	+		Breast(137;0.000143)	519			Laminin G-like 2.			Silent	SNP	ENST00000264638.4	37	c.1555C>T	CCDS11436.1																																																																																				0.557	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		29	73	0	0	0	1	0	29	73				
DCT	1638	broad.mit.edu	37	13	95131365	95131365	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:95131365C>T	ENST00000377028.5	-	1	558	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	DCT_ENST00000446125.1_Missense_Mutation_p.A49T	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	49					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CAGACATTGGCCGACTCTGCA	0.617																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(145-147)Gcc>Acc		dopachrome tautomerase							58.0	53.0	54.0					13																	95131365		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95131365C>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.145G>A	13.37:g.95131365C>T	ENSP00000366227:p.Ala49Thr					DCT_ENST00000446125.1_Missense_Mutation_p.A49T	p.A49T	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	558	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	49					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.145G>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	5.416	0.261918	0.10239	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98987	-5.3;-5.3	5.22	1.33	0.21861	.	0.526964	0.21674	N	0.070821	D	0.94506	0.8231	N	0.20986	0.625	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.09377	0.004;0.002	D	0.86773	0.1974	10	0.07990	T	0.79	-0.1574	4.3289	0.11053	0.1625:0.5306:0.0:0.3069	.	49;49	Q09GT4;P40126	.;TYRP2_HUMAN	T	49	ENSP00000366227:A49T;ENSP00000392762:A49T	ENSP00000366227:A49T	A	-	1	0	DCT	93929366	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.042000	0.13949	0.154000	0.19237	0.650000	0.86243	GCC		0.617	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			11	40	0	0	0	1	0	11	40				
STIM2	57620	broad.mit.edu	37	4	26921244	26921244	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:26921244G>A	ENST00000467011.1	+	2	695	c.270G>A	c.(268-270)gaG>gaA	p.E90E	STIM2_ENST00000382009.3_Silent_p.E177E|STIM2_ENST00000465503.1_Silent_p.E90E|STIM2_ENST00000467087.1_Silent_p.E90E|STIM2_ENST00000412829.2_Silent_p.E177E|STIM2_ENST00000237364.5_Silent_p.E177E	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	90	EF-hand.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTGAAGTAGAGGAAAGTGATG	0.368																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(529-531)gaG>gaA		stromal interaction molecule 2							189.0	186.0	187.0					4																	26921244		2203	4300	6503	SO:0001819	synonymous_variant	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:26921244G>A	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.270G>A	4.37:g.26921244G>A						STIM2_ENST00000412829.2_Silent_p.E177E|STIM2_ENST00000467087.1_Silent_p.E90E|STIM2_ENST00000467011.1_Silent_p.E90E|STIM2_ENST00000237364.5_Silent_p.E177E|STIM2_ENST00000465503.1_Silent_p.E90E	p.E177E	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			2	798	+		Breast(46;0.0503)	90			SAM.		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Silent	SNP	ENST00000467011.1	37	c.531G>A	CCDS54752.1																																																																																				0.368	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		6	65	0	0	0	1	0	6	65				
GPATCH1	55094	broad.mit.edu	37	19	33588754	33588754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:33588754C>T	ENST00000170564.2	+	8	1260	c.946C>T	c.(946-948)Cct>Tct	p.P316S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	316					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGACGAGGAGCCTGGAGACGG	0.478																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(946-948)Cct>Tct		G patch domain containing 1							182.0	183.0	183.0					19																	33588754		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33588754C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.946C>T	19.37:g.33588754C>T	ENSP00000170564:p.Pro316Ser						p.P316S	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			8	1260	+	Esophageal squamous(110;0.137)		316					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.946C>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008316	0.75046	.	.	ENSG00000076650	ENST00000170564	T	0.12984	2.63	5.62	5.62	0.85841	.	0.099122	0.64402	D	0.000001	T	0.15955	0.0384	L	0.41027	1.25	0.80722	D	1	D	0.53312	0.959	P	0.45881	0.496	T	0.00544	-1.1679	10	0.44086	T	0.13	-13.7857	13.5961	0.61991	0.155:0.8449:0.0:0.0	.	316	Q9BRR8	GPTC1_HUMAN	S	316	ENSP00000170564:P316S	ENSP00000170564:P316S	P	+	1	0	GPATCH1	38280594	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.170000	0.64990	2.648000	0.89879	0.655000	0.94253	CCT		0.478	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		8	169	0	0	0	1	0	8	169				
SLC17A7	57030	broad.mit.edu	37	19	49936988	49936988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49936988G>A	ENST00000221485.3	-	7	1033	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	SLC17A7_ENST00000600601.1_Missense_Mutation_p.L221F|SLC17A7_ENST00000543531.1_Missense_Mutation_p.L276F	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	288					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGGACCGTGAGGGGGTTCATG	0.622																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(862-864)Ctc>Ttc		solute carrier family 17 (vesicular glutamate transporter), member 7							63.0	51.0	55.0					19																	49936988		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49936988G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.862C>T	19.37:g.49936988G>A	ENSP00000221485:p.Leu288Phe					SLC17A7_ENST00000543531.1_Missense_Mutation_p.L276F|SLC17A7_ENST00000600601.1_Missense_Mutation_p.L221F	p.L288F	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	7	1033	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	288					B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.862C>T	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	g	4.616	0.114572	0.08831	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.59502	0.26;0.26	4.4	-0.867	0.10655	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	20.351100	0.00166	N	0.000003	T	0.47801	0.1465	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.15870	0.009;0.014	T	0.34004	-0.9846	10	0.11182	T	0.66	.	14.9011	0.70681	0.0:0.2629:0.7371:0.0	.	221;288	B4DFR9;Q9P2U7	.;VGLU1_HUMAN	F	288;276	ENSP00000221485:L288F;ENSP00000441767:L276F	ENSP00000221485:L288F	L	-	1	0	SLC17A7	54628800	0.324000	0.24652	0.211000	0.23655	0.969000	0.65631	0.230000	0.17852	0.182000	0.20032	0.556000	0.70494	CTC		0.622	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			11	24	0	0	0	1	0	11	24				
AFG3L2	10939	broad.mit.edu	37	18	12358777	12358777	+	Missense_Mutation	SNP	C	C	G	rs376256180		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:12358777C>G	ENST00000269143.3	-	8	1149	c.918G>C	c.(916-918)aaG>aaC	p.K306N		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	306					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.K306K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CATCTTTGAACTTCACATCAA	0.493																																						ENST00000269143.3																			1	Substitution - coding silent(1)	p.K306K(1)	large_intestine(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(916-918)aaG>aaC		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						108.0	96.0	100.0					18																	12358777		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12358777C>G	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.918G>C	18.37:g.12358777C>G	ENSP00000269143:p.Lys306Asn						p.K306N	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			8	1149	-			306					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.918G>C	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532278	0.45073	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.41758	0.99	5.76	1.85	0.25348	Peptidase M41, FtsH (2);	0.084927	0.85682	D	0.000000	T	0.31389	0.0795	L	0.35793	1.09	0.58432	D	0.999996	B	0.17268	0.021	B	0.17722	0.019	T	0.08391	-1.0724	10	0.56958	D	0.05	-3.3597	9.8324	0.40950	0.0:0.6174:0.0:0.3826	.	306	Q9Y4W6	AFG32_HUMAN	N	306;321	ENSP00000269143:K306N	ENSP00000269143:K306N	K	-	3	2	AFG3L2	12348777	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.057000	0.30492	0.052000	0.16007	0.655000	0.94253	AAG		0.493	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		31	55	0	0	0	1	0	31	55				
AP4E1	23431	broad.mit.edu	37	15	51242132	51242132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:51242132G>A	ENST00000261842.5	+	12	1532	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	AP4E1_ENST00000560508.1_Missense_Mutation_p.E401K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	476					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.E476K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTACTAGCGGAAGGTTGGTA	0.318																																						ENST00000261842.5																			1	Substitution - Missense(1)	p.E476K(1)	skin(1)	breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1426-1428)Gaa>Aaa		adaptor-related protein complex 4, epsilon 1 subunit							143.0	133.0	137.0					15																	51242132		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51242132G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1426G>A	15.37:g.51242132G>A	ENSP00000261842:p.Glu476Lys					AP4E1_ENST00000560508.1_Missense_Mutation_p.E401K	p.E476K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	12	1532	+			476					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.1426G>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342323	0.95783	.	.	ENSG00000081014	ENST00000261842	T	0.12255	2.7	5.62	5.62	0.85841	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.049564	0.85682	N	0.000000	T	0.38506	0.1043	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02004	-1.1231	10	0.52906	T	0.07	-21.5525	19.0124	0.92879	0.0:0.0:1.0:0.0	.	476	Q9UPM8	AP4E1_HUMAN	K	476	ENSP00000261842:E476K	ENSP00000261842:E476K	E	+	1	0	AP4E1	49029424	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	9.154000	0.94694	2.810000	0.96702	0.650000	0.86243	GAA		0.318	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			14	58	0	0	0	1	0	14	58				
UTP14C	9724	broad.mit.edu	37	13	52603215	52603215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:52603215C>T	ENST00000521776.2	+	2	1008	c.275C>T	c.(274-276)cCc>cTc	p.P92L	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	92					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CTGCTTGAGCCCGTTAAAACT	0.418																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(274-276)cCc>cTc		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							133.0	139.0	137.0					13																	52603215		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603215C>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.275C>T	13.37:g.52603215C>T	ENSP00000428619:p.Pro92Leu					ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	p.P92L	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1008	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	92					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.275C>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344173	0.24339	.	.	ENSG00000253797	ENST00000521776	T	0.17054	2.3	2.56	0.287	0.15714	.	0.327448	0.37304	N	0.002146	T	0.32194	0.0821	M	0.74647	2.275	0.27417	N	0.954419	D	0.67145	0.996	D	0.72982	0.979	T	0.05435	-1.0885	10	0.37606	T	0.19	-0.7198	5.9728	0.19361	0.2079:0.5869:0.2052:0.0	.	92	Q5TAP6	UT14C_HUMAN	L	92	ENSP00000428619:P92L	ENSP00000428619:P92L	P	+	2	0	UTP14C	51501216	0.545000	0.26449	0.587000	0.28692	0.542000	0.35054	1.743000	0.38258	0.357000	0.24183	0.448000	0.29417	CCC		0.418	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		11	89	0	0	0	1	0	11	89				
MSLNL	401827	broad.mit.edu	37	16	830185	830185	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:830185G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.T272T			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGGCTGTGAGGGTCCCGGCGG	0.667																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(814-816)acC>acT		mesothelin-like							18.0	23.0	22.0					16																	830185		1930	4122	6052	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830185G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-23C>T	16.37:g.830185G>A						MSLNL_ENST00000442466.1_Intron	p.T272T			Q96KJ4	MSLNL_HUMAN			3	815	-			246						Silent	SNP	ENST00000442466.1	37	c.816C>T																																																																																					0.667	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		6	15	0	0	0	1	0	6	15				
DYNC1H1	1778	broad.mit.edu	37	14	102453941	102453941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:102453941C>T	ENST00000360184.4	+	9	2854	c.2690C>T	c.(2689-2691)cCc>cTc	p.P897L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	897	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCCAATTTGCCCATCTGGGTC	0.408																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(2689-2691)cCc>cTc		dynein, cytoplasmic 1, heavy chain 1							81.0	75.0	77.0					14																	102453941		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102453941C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2690C>T	14.37:g.102453941C>T	ENSP00000348965:p.Pro897Leu						p.P897L	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			9	2854	+			897			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2690C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054051	0.55218	.	.	ENSG00000197102	ENST00000360184	T	0.27890	1.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.32530	0.975	0.80722	D	1	B	0.25850	0.136	B	0.24006	0.05	T	0.02574	-1.1139	10	0.28530	T	0.3	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	897	Q14204	DYHC1_HUMAN	L	897	ENSP00000348965:P897L	ENSP00000348965:P897L	P	+	2	0	DYNC1H1	101523694	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.445000	0.80570	2.894000	0.99253	0.591000	0.81541	CCC		0.408	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	41	0	0	0	1	0	8	41				
ING4	51147	broad.mit.edu	37	12	6762507	6762507	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:6762507G>A	ENST00000396807.4	-	3	203	c.165C>T	c.(163-165)agC>agT	p.S55S	ING4_ENST00000486287.1_Intron|ING4_ENST00000423703.2_Silent_p.S55S|ING4_ENST00000444704.2_Silent_p.S31S|ING4_ENST00000412586.2_Silent_p.S55S|ING4_ENST00000446105.2_Silent_p.S55S|ING4_ENST00000341550.4_Silent_p.S55S	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	55					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CGGAGCTCAGGCTGCGGGCAC	0.522																																						ENST00000341550.4																			0				central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(163-165)agC>agT		inhibitor of growth family, member 4							93.0	81.0	85.0					12																	6762507		2203	4300	6503	SO:0001819	synonymous_variant	51147				apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding	g.chr12:6762507G>A	AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"""Zinc fingers, PHD-type"""	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.165C>T	12.37:g.6762507G>A						ING4_ENST00000412586.2_Silent_p.S55S|ING4_ENST00000396807.4_Silent_p.S55S|ING4_ENST00000423703.2_Silent_p.S55S|ING4_ENST00000486287.1_Intron|ING4_ENST00000446105.2_Silent_p.S55S|ING4_ENST00000444704.2_Silent_p.S31S	p.S55S			Q9UNL4	ING4_HUMAN			3	211	-			55					A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Silent	SNP	ENST00000396807.4	37	c.165C>T	CCDS44813.1																																																																																				0.522	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2	NM_198287		8	34	0	0	0	1	0	8	34				
POLE	5426	broad.mit.edu	37	12	133201301	133201301	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:133201301G>A	ENST00000320574.5	-	49	6886	c.6843C>T	c.(6841-6843)aaC>aaT	p.N2281N	POLE_ENST00000535270.1_Silent_p.N2254N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2281					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCAGCTGTGGGTTCTTCTGCA	0.622								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(6841-6843)aaC>aaT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							61.0	63.0	62.0					12																	133201301		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133201301G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6843C>T	12.37:g.133201301G>A						POLE_ENST00000535270.1_Silent_p.N2254N	p.N2281N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	49	6886	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2281					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.6843C>T	CCDS9278.1																																																																																				0.622	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		26	40	0	0	0	1	0	26	40				
MICAL1	64780	broad.mit.edu	37	6	109774983	109774983	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:109774983G>A	ENST00000358807.3	-	3	635	c.324C>T	c.(322-324)gcC>gcT	p.A108A	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000358577.3_Silent_p.A108A|MICAL1_ENST00000368952.4_Silent_p.A127A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	108	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCACCACTCGGGCCCCCAGCA	0.652																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(379-381)gcC>gcT		microtubule associated monooxygenase, calponin and LIM domain containing 1							71.0	61.0	64.0					6																	109774983		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109774983G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.324C>T	6.37:g.109774983G>A						MICAL1_ENST00000358807.3_Silent_p.A108A|MICAL1_ENST00000358577.3_Silent_p.A108A	p.A127A			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	3	671	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	108					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.381C>T	CCDS5076.1																																																																																				0.652	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		15	51	0	0	0	1	0	15	51				
CDC45	8318	broad.mit.edu	37	22	19484954	19484954	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:19484954C>T	ENST00000407835.1	+	9	893	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L	CDC45_ENST00000404724.3_Silent_p.L167L|CDC45_ENST00000263201.1_Silent_p.L213L|CDC45_ENST00000437685.2_Silent_p.L245L			O75419	CDC45_HUMAN	cell division cycle 45	213					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTCCAAGGACCTGAATGACAT	0.562																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(637-639)Ctg>Ttg		cell division cycle 45							237.0	179.0	198.0					22																	19484954		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19484954C>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.637C>T	22.37:g.19484954C>T						CDC45_ENST00000404724.3_Silent_p.L167L|CDC45_ENST00000263201.1_Silent_p.L213L|CDC45_ENST00000437685.2_Silent_p.L245L	p.L213L			O75419	CDC45_HUMAN			9	893	+			213					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.637C>T	CCDS13762.1																																																																																				0.562	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		16	191	0	0	0	1	0	16	191				
LANCL1	10314	broad.mit.edu	37	2	211305402	211305402	+	Missense_Mutation	SNP	G	G	A	rs200162143		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:211305402G>A	ENST00000443314.1	-	5	952	c.610C>T	c.(610-612)Cca>Tca	p.P204S	LANCL1_ENST00000233714.4_Missense_Mutation_p.P204S|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.P204S|LANCL1_ENST00000450366.2_Missense_Mutation_p.P204S|LANCL1_ENST00000441020.3_Missense_Mutation_p.P204S|AC007970.1_ENST00000433296.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	204					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TACATCAGTGGAGACTTTGCC	0.408																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(610-612)Cca>Tca		LanC lantibiotic synthetase component C-like 1 (bacterial)							105.0	96.0	99.0					2																	211305402		2203	4300	6503	SO:0001583	missense	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211305402G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.610C>T	2.37:g.211305402G>A	ENSP00000388713:p.Pro204Ser					LANCL1_ENST00000441020.3_Missense_Mutation_p.P204S|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Missense_Mutation_p.P204S|LANCL1_ENST00000431941.2_Missense_Mutation_p.P204S|LANCL1_ENST00000233714.4_Missense_Mutation_p.P204S|AC007970.1_ENST00000420418.1_RNA	p.P204S			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	5	952	-			204						Missense_Mutation	SNP	ENST00000443314.1	37	c.610C>T	CCDS2392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.186039|5.186039	0.94885|0.94885	.|.	.|.	ENSG00000115365|ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941|ENST00000412863	T;T;T;T;T|T	0.48522|0.45668	0.81;0.81;0.81;0.81;0.81|0.89	6.07|6.07	6.07|6.07	0.98685|0.98685	Six-hairpin glycosidase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63212|0.63212	0.2492|0.2492	M|M	0.87328|0.87328	2.875|2.875	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.60383|0.60383	-0.7274|-0.7274	10|7	0.87932|0.06891	D|T	0|0.86	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	204|.	O43813|.	LANC1_HUMAN|.	S|F	204|23	ENSP00000388713:P204S;ENSP00000393323:P204S;ENSP00000393597:P204S;ENSP00000233714:P204S;ENSP00000397646:P204S|ENSP00000405364:S23F	ENSP00000233714:P204S|ENSP00000405364:S23F	P|S	-|-	1|2	0|0	LANCL1|LANCL1	211013647|211013647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.778000|6.778000	0.75043|0.75043	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.408	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		19	43	0	0	0	1	0	19	43				
CLIP1	6249	broad.mit.edu	37	12	122812507	122812507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:122812507G>A	ENST00000540338.1	-	16	3277	c.3236C>T	c.(3235-3237)gCc>gTc	p.A1079V	CLIP1_ENST00000358808.2_Missense_Mutation_p.A1068V|CLIP1_ENST00000302528.7_Missense_Mutation_p.A1068V|CLIP1_ENST00000361654.4_Missense_Mutation_p.A957V|CLIP1_ENST00000545889.1_Missense_Mutation_p.A654V|CLIP1_ENST00000537178.1_Missense_Mutation_p.A1033V			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1079					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGCTTTGTCGGCTTGCTTTCT	0.562																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3202-3204)gCc>gTc		CAP-GLY domain containing linker protein 1							98.0	83.0	88.0					12																	122812507		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812507G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3236C>T	12.37:g.122812507G>A	ENSP00000439093:p.Ala1079Val					CLIP1_ENST00000302528.7_Missense_Mutation_p.A1068V|CLIP1_ENST00000361654.4_Missense_Mutation_p.A957V|CLIP1_ENST00000537178.1_Missense_Mutation_p.A1033V|CLIP1_ENST00000545889.1_Missense_Mutation_p.A654V|CLIP1_ENST00000540338.1_Missense_Mutation_p.A1079V	p.A1068V	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3357	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1079					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3203C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303120	0.60195	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.65	5.65	0.86999	.	0.117593	0.64402	D	0.000018	T	0.63486	0.2515	M	0.65975	2.015	0.54753	D	0.999989	D;D;D	0.67145	0.996;0.996;0.992	D;D;P	0.68192	0.956;0.956;0.905	T	0.58261	-0.7667	10	0.33940	T	0.23	-10.9561	19.7244	0.96157	0.0:0.0:1.0:0.0	.	1033;1068;1079	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	V	654;1068;1068;798;110;1033;1079	ENSP00000438743:A654V;ENSP00000303585:A1068V;ENSP00000351665:A1068V;ENSP00000445531:A1033V;ENSP00000439093:A1079V	ENSP00000303585:A1068V	A	-	2	0	CLIP1	121378460	1.000000	0.71417	0.961000	0.40146	0.020000	0.10135	6.639000	0.74314	2.659000	0.90383	0.655000	0.94253	GCC		0.562	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		38	60	0	0	0	1	0	38	60				
SIVA1	10572	broad.mit.edu	37	14	105222083	105222083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:105222083C>T	ENST00000329967.6	+	2	337	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	79					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TACAGGGGCCCCGAGGGCTGC	0.667																																						ENST00000329967.6																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(235-237)Ccg>Tcg		SIVA1, apoptosis-inducing factor							38.0	41.0	40.0					14																	105222083		2203	4300	6503	SO:0001583	missense	10572				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding	g.chr14:105222083C>T	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.235C>T	14.37:g.105222083C>T	ENSP00000329213:p.Pro79Ser					SIVA1_ENST00000347067.5_Intron	p.P79S	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)	2	337	+		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	79					Q96P98|Q9UPD6	Missense_Mutation	SNP	ENST00000329967.6	37	c.235C>T	CCDS9992.1	.	.	.	.	.	.	.	.	.	.	C	2.804	-0.248489	0.05867	.	.	ENSG00000184990	ENST00000329967;ENST00000553810	.	.	.	5.1	0.902	0.19290	.	0.463760	0.21542	N	0.072876	T	0.14614	0.0353	N	0.25144	0.715	0.09310	N	0.999994	B;B;P	0.46512	0.14;0.232;0.879	B;B;B	0.41571	0.077;0.109;0.36	T	0.09271	-1.0682	9	0.22706	T	0.39	-1.7549	1.4683	0.02411	0.1739:0.4678:0.1689:0.1894	.	79;79;79	B4DTY2;O15304;G3V3U1	.;SIVA_HUMAN;.	S	79	.	ENSP00000329213:P79S	P	+	1	0	SIVA1	104293128	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	0.456000	0.21859	0.167000	0.19631	-0.136000	0.14681	CCG		0.667	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		4	19	0	0	0	1	0	4	19				
PARP9	83666	broad.mit.edu	37	3	122274680	122274680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:122274680C>T	ENST00000360356.2	-	4	670	c.443G>A	c.(442-444)gGc>gAc	p.G148D	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000462315.1_Missense_Mutation_p.G113D|PARP9_ENST00000471785.1_Missense_Mutation_p.G113D|PARP9_ENST00000477522.2_Missense_Mutation_p.G113D	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	148	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CAGGGCCAGGCCTCCCCCATG	0.483																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(337-339)gGc>gAc		poly (ADP-ribose) polymerase family, member 9							94.0	92.0	93.0					3																	122274680		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274680C>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.443G>A	3.37:g.122274680C>T	ENSP00000353512:p.Gly148Asp					PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.G113D|PARP9_ENST00000360356.2_Missense_Mutation_p.G148D|PARP9_ENST00000477522.2_Missense_Mutation_p.G113D	p.G113D	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	631	-			148			Macro 1.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.338G>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801503	0.90538	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.4	5.4	0.78164	Appr-1-p processing (3);	0.000000	0.53938	D	0.000057	T	0.77751	0.4177	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.85499	0.1190	10	0.87932	D	0	.	14.3431	0.66641	0.0:0.8508:0.1492:0.0	.	113;148;113	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	D	148;113;113;71;113	ENSP00000353512:G148D;ENSP00000419506:G113D;ENSP00000419001:G113D;ENSP00000418894:G113D	ENSP00000353512:G148D	G	-	2	0	PARP9	123757370	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.886000	0.69743	2.818000	0.97014	0.655000	0.94253	GGC		0.483	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		4	58	0	0	0	1	0	4	58				
PDE4DIP	9659	broad.mit.edu	37	1	144879075	144879075	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:144879075C>T	ENST00000369354.3	-	27	4564	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1595K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1415K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1595K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1459K|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1459					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCAGCTTCTCTTCTAGTCCA	0.517			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4783-4785)Gag>Aag		phosphodiesterase 4D interacting protein							146.0	159.0	155.0					1																	144879075		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879075C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4375G>A	1.37:g.144879075C>T	ENSP00000358360:p.Glu1459Lys					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1415K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1595K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1459K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1459K	p.E1595K			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4821	-			1459			NBPF.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4783G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242255	0.22796	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01629	4.72;4.79;4.81;4.82;4.81	5.44	4.54	0.55810	.	.	.	.	.	T	0.00412	0.0013	N	0.08118	0	0.80722	D	1	B;B	0.14438	0.01;0.0	B;B	0.15870	0.014;0.0	T	0.41734	-0.9492	9	0.07482	T	0.82	.	12.2481	0.54583	0.0:0.9185:0.0:0.0815	.	1415;1459	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	1415;1459;1459;1595;1595	ENSP00000327209:E1415K;ENSP00000358360:E1459K;ENSP00000358363:E1459K;ENSP00000435654:E1595K;ENSP00000358366:E1595K	ENSP00000327209:E1415K	E	-	1	0	PDE4DIP	143590432	0.852000	0.29690	0.904000	0.35570	0.945000	0.59286	3.819000	0.55686	1.553000	0.49476	-0.186000	0.12905	GAG		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		4	208	0	0	0	1	0	4	208				
UTP20	27340	broad.mit.edu	37	12	101680215	101680215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:101680215C>T	ENST00000261637.4	+	5	617	c.443C>T	c.(442-444)gCt>gTt	p.A148V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	148					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTAGAATGGGCTTTCACCTCG	0.428																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(442-444)gCt>gTt		UTP20, small subunit (SSU) processome component, homolog (yeast)							234.0	229.0	230.0					12																	101680215		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680215C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.443C>T	12.37:g.101680215C>T	ENSP00000261637:p.Ala148Val						p.A148V	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			5	617	+			148					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.443C>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928458	0.52759	.	.	ENSG00000120800	ENST00000261637	T	0.72835	-0.69	5.29	4.39	0.52855	Armadillo-type fold (1);	0.133081	0.50627	D	0.000117	T	0.49236	0.1545	N	0.16201	0.385	0.54753	D	0.999982	B	0.18013	0.025	B	0.22152	0.038	T	0.45145	-0.9281	10	0.02654	T	1	-14.9959	13.3166	0.60411	0.0:0.9241:0.0:0.0759	.	148	O75691	UTP20_HUMAN	V	148	ENSP00000261637:A148V	ENSP00000261637:A148V	A	+	2	0	UTP20	100204346	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	3.251000	0.51453	2.469000	0.83416	0.557000	0.71058	GCT		0.428	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		10	154	0	0	0	1	0	10	154				
KDELC1	79070	broad.mit.edu	37	13	103450858	103450858	+	Missense_Mutation	SNP	C	C	T	rs199620095		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103450858C>T	ENST00000376004.4	-	1	499	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	BIVM_ENST00000419638.1_5'Flank|BIVM_ENST00000448849.2_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000257336.1_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	55						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGTATCCACTGCCTGAATA	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14486	0.0		0.0	False		,,,				2504	0.0					ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(163-165)Gtg>Atg		KDEL (Lys-Asp-Glu-Leu) containing 1							68.0	68.0	68.0					13																	103450858		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103450858C>T	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.163G>A	13.37:g.103450858C>T	ENSP00000365172:p.Val55Met					KDELC1_ENST00000460338.1_5'UTR	p.V55M	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			1	499	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		55					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.163G>A	CCDS9504.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	25.9	4.683301	0.88542	.	.	ENSG00000134901	ENST00000376004	D	0.84944	-1.92	5.32	4.47	0.54385	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.126774	0.53938	D	0.000060	D	0.92116	0.7501	M	0.81341	2.54	0.58432	D	0.999996	D	0.65815	0.995	D	0.71870	0.975	D	0.93015	0.6435	10	0.62326	D	0.03	.	15.9046	0.79412	0.0:0.8642:0.1358:0.0	.	55	Q6UW63	KDEL1_HUMAN	M	55	ENSP00000365172:V55M	ENSP00000365172:V55M	V	-	1	0	KDELC1	102248859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.588000	0.67517	1.354000	0.45846	0.650000	0.86243	GTG		0.488	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			13	28	0	0	0	1	0	13	28				
UBE2O	63893	broad.mit.edu	37	17	74392371	74392371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74392371G>A	ENST00000319380.7	-	14	2711	c.2647C>T	c.(2647-2649)Ccc>Tcc	p.P883S	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	883					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCTACGTCGGGCACTGCTTCC	0.567																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2647-2649)Ccc>Tcc		ubiquitin-conjugating enzyme E2O							160.0	163.0	162.0					17																	74392371		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392371G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2647C>T	17.37:g.74392371G>A	ENSP00000323687:p.Pro883Ser						p.P883S	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			14	2711	-			883					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2647C>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	G	2.323	-0.355101	0.05138	.	.	ENSG00000175931	ENST00000319380	T	0.71579	-0.58	5.03	4.05	0.47172	.	0.385295	0.25347	N	0.031339	T	0.53546	0.1803	N	0.19112	0.55	0.23712	N	0.99705	B	0.02656	0.0	B	0.06405	0.002	T	0.23261	-1.0193	10	0.11485	T	0.65	-8.6291	14.655	0.68825	0.0:0.3815:0.6185:0.0	.	883	Q9C0C9	UBE2O_HUMAN	S	883	ENSP00000323687:P883S	ENSP00000323687:P883S	P	-	1	0	UBE2O	71903966	1.000000	0.71417	0.048000	0.18961	0.503000	0.33858	1.765000	0.38481	1.073000	0.40885	0.563000	0.77884	CCC		0.567	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		4	147	0	0	0	1	0	4	147				
C19orf26	255057	broad.mit.edu	37	19	1231027	1231027	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:1231027C>T	ENST00000382477.2	-	9	1489				C19orf26_ENST00000215376.6_Silent_p.R403R|C19orf26_ENST00000590083.1_Silent_p.R409R			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GCTCCCTGGGCCGCCTAGGGG	0.706										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(1225-1227)cgG>cgA		chromosome 19 open reading frame 26							12.0	16.0	14.0					19																	1231027		2160	4269	6429	SO:0001627	intron_variant	255057					integral to membrane		g.chr19:1231027C>T	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.1214+72G>A	19.37:g.1231027C>T		HNSCC(14;0.022)				C19orf26_ENST00000382477.2_Intron|C19orf26_ENST00000215376.6_Silent_p.R403R	p.R409R			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1519	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	439					O43385	Silent	SNP	ENST00000382477.2	37	c.1227G>A																																																																																					0.706	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		11	9	0	0	0	1	0	11	9				
ADCY10	55811	broad.mit.edu	37	1	167830293	167830293	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:167830293G>A	ENST00000367851.4	-	15	1809	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	ADCY10_ENST00000545172.1_Missense_Mutation_p.A389V|ADCY10_ENST00000367848.1_Missense_Mutation_p.A450V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	542					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAATGAAATGGCAATAATCCT	0.323																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1348-1350)gCc>gTc		adenylate cyclase 10 (soluble)							104.0	98.0	100.0					1																	167830293		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167830293G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1625C>T	1.37:g.167830293G>A	ENSP00000356825:p.Ala542Val					ADCY10_ENST00000367851.4_Missense_Mutation_p.A542V|ADCY10_ENST00000545172.1_Missense_Mutation_p.A389V	p.A450V			Q96PN6	ADCYA_HUMAN			15	1846	-			542					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1349C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098570	0.56183	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.62639	0.01;0.01;0.01	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000005	T	0.66906	0.2837	M	0.67953	2.075	0.31942	N	0.61078	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.69479	0.942;0.964;0.922	T	0.62191	-0.6906	9	0.13470	T	0.59	-7.9621	15.3869	0.74708	0.0:0.0:1.0:0.0	.	389;450;542	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	V	389;542;450	ENSP00000441992:A389V;ENSP00000356825:A542V;ENSP00000356822:A450V	ENSP00000356822:A450V	A	-	2	0	ADCY10	166096917	1.000000	0.71417	0.918000	0.36340	0.027000	0.11550	4.861000	0.62969	2.771000	0.95319	0.563000	0.77884	GCC		0.323	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		17	39	0	0	0	1	0	17	39				
EPB41L4A	64097	broad.mit.edu	37	5	111576448	111576448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:111576448C>T	ENST00000261486.5	-	10	1131	c.855G>A	c.(853-855)tgG>tgA	p.W285*	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	285	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CACTGCACTTCCAGAGGTGCT	0.323																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(853-855)tgG>tgA		erythrocyte membrane protein band 4.1 like 4A							71.0	67.0	68.0					5																	111576448		1812	4083	5895	SO:0001587	stop_gained	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111576448C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.855G>A	5.37:g.111576448C>T	ENSP00000261486:p.Trp285*					RP11-526F3.1_ENST00000504004.1_RNA	p.W285*	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	10	1131	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	285			FERM.		A4FUI6	Nonsense_Mutation	SNP	ENST00000261486.5	37	c.855G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	39	7.481567	0.98312	.	.	ENSG00000129595	ENST00000261486	.	.	.	5.46	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2253	0.59911	0.0:0.9216:0.0:0.0784	.	.	.	.	X	285	.	ENSP00000261486:W285X	W	-	3	0	EPB41L4A	111604347	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.744000	0.68664	1.430000	0.47334	0.655000	0.94253	TGG		0.323	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			35	50	0	0	0	1	0	35	50				
ZFYVE20	64145	broad.mit.edu	37	3	15116003	15116003	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:15116003C>T	ENST00000253699.3	-	14	2254	c.1641G>A	c.(1639-1641)cgG>cgA	p.R547R	ZFYVE20_ENST00000476527.2_Silent_p.R547R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	547	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGTCCAGGGACCGAGTCCGTG	0.582																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1639-1641)cgG>cgA		zinc finger, FYVE domain containing 20							78.0	74.0	75.0					3																	15116003		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15116003C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1641G>A	3.37:g.15116003C>T						ZFYVE20_ENST00000476527.2_Silent_p.R547R	p.R547R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2254	-			547			Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.1641G>A	CCDS2623.1																																																																																				0.582	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		28	55	0	0	0	1	0	28	55				
LARP4B	23185	broad.mit.edu	37	10	882433	882433	+	Silent	SNP	G	G	A	rs150827598		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:882433G>A	ENST00000316157.3	-	7	700	c.660C>T	c.(658-660)gtC>gtT	p.V220V		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	220	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CATCCACTTGGACTAAAGGTA	0.318																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(658-660)gtC>gtT		La ribonucleoprotein domain family, member 4B							122.0	119.0	120.0					10																	882433		2203	4300	6503	SO:0001819	synonymous_variant	23185						nucleotide binding|RNA binding	g.chr10:882433G>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.660C>T	10.37:g.882433G>A							p.V220V	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			7	700	-			220			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	c.660C>T	CCDS31131.1																																																																																				0.318	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		29	96	0	0	0	1	0	29	96				
TMED1	11018	broad.mit.edu	37	19	10945949	10945949	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10945949C>T	ENST00000214869.2	-	2	362	c.264G>A	c.(262-264)aaG>aaA	p.K88K	TMED1_ENST00000591695.1_Silent_p.K88K|TMED1_ENST00000588289.1_5'UTR|C19orf38_ENST00000592854.1_5'Flank	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	88	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CCCCATCAGCCTTGCGGGACT	0.637																																						ENST00000214869.2																			0				breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						c.(262-264)aaG>aaA		transmembrane emp24 protein transport domain containing 1							152.0	121.0	132.0					19																	10945949		2203	4300	6503	SO:0001819	synonymous_variant	11018				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding	g.chr19:10945949C>T	U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.264G>A	19.37:g.10945949C>T						TMED1_ENST00000588289.1_5'UTR|TMED1_ENST00000591695.1_Silent_p.K88K	p.K88K	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN			2	362	-			88			GOLD.			Silent	SNP	ENST00000214869.2	37	c.264G>A	CCDS12249.1																																																																																				0.637	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		12	145	0	0	0	1	0	12	145				
GBF1	8729	broad.mit.edu	37	10	104140344	104140344	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104140344G>A	ENST00000369983.3	+	38	5331	c.5071G>A	c.(5071-5073)Gga>Aga	p.G1691R		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1691					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGATGCACGGGGAGGCGGCCC	0.577																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5071-5073)Gga>Aga		golgi brefeldin A resistant guanine nucleotide exchange factor 1							243.0	265.0	257.0					10																	104140344		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140344G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5071G>A	10.37:g.104140344G>A	ENSP00000359000:p.Gly1691Arg						p.G1691R	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5331	+		Colorectal(252;0.0236)	1691					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.5071G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926135	0.34002	.	.	ENSG00000107862	ENST00000369983	T	0.10573	2.86	5.38	5.38	0.77491	.	0.110120	0.64402	D	0.000015	T	0.10380	0.0254	L	0.43152	1.355	0.45515	D	0.998478	P;P;P	0.38195	0.622;0.622;0.622	B;B;B	0.38803	0.282;0.282;0.282	T	0.01988	-1.1234	10	0.72032	D	0.01	-11.2726	6.4576	0.21938	0.2047:0.0:0.7953:0.0	.	1687;1687;1691	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	R	1691	ENSP00000359000:G1691R	ENSP00000359000:G1691R	G	+	1	0	GBF1	104130334	1.000000	0.71417	0.999000	0.59377	0.368000	0.29767	5.982000	0.70532	2.793000	0.96121	0.655000	0.94253	GGA		0.577	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			17	351	0	0	0	1	0	17	351				
TMEM176B	28959	broad.mit.edu	37	7	150493485	150493485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150493485G>A	ENST00000447204.2	-	2	545	c.173C>T	c.(172-174)gCc>gTc	p.A58V	TMEM176B_ENST00000326442.5_Missense_Mutation_p.A58V|TMEM176B_ENST00000429904.2_Missense_Mutation_p.A58V|TMEM176B_ENST00000450753.2_Missense_Mutation_p.A58V|TMEM176B_ENST00000492607.1_Missense_Mutation_p.A58V|TMEM176B_ENST00000434545.1_Missense_Mutation_p.A58V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	58					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAATCCTGGCTGTGGAAGG	0.522																																						ENST00000447204.2																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(172-174)gCc>gTc		transmembrane protein 176B							66.0	64.0	65.0					7																	150493485		2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150493485G>A	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.173C>T	7.37:g.150493485G>A	ENSP00000410269:p.Ala58Val					TMEM176B_ENST00000429904.2_Missense_Mutation_p.A58V|TMEM176B_ENST00000450753.2_Missense_Mutation_p.A58V|TMEM176B_ENST00000326442.5_Missense_Mutation_p.A58V|TMEM176B_ENST00000492607.1_Missense_Mutation_p.A58V|TMEM176B_ENST00000434545.1_Missense_Mutation_p.A58V	p.A58V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	545	-			58					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.173C>T	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033958	0.35893	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.09163	3.14;3.14;3.14;3.14;3.14;3.01	4.92	1.87	0.25490	.	.	.	.	.	T	0.23727	0.0574	L	0.58101	1.795	0.09310	N	1	D;P	0.65815	0.995;0.908	D;B	0.64595	0.927;0.265	T	0.04678	-1.0934	9	0.66056	D	0.02	-6.1878	8.2903	0.31954	0.0:0.321:0.5134:0.1655	.	58;58	E9PAV4;Q3YBM2	.;T176B_HUMAN	V	58	ENSP00000419258:A58V;ENSP00000318409:A58V;ENSP00000410269:A58V;ENSP00000413531:A58V;ENSP00000397810:A58V;ENSP00000404831:A58V	ENSP00000318409:A58V	A	-	2	0	TMEM176B	150124418	0.001000	0.12720	0.010000	0.14722	0.004000	0.04260	0.480000	0.22244	0.443000	0.26582	-0.499000	0.04595	GCC		0.522	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		20	47	0	0	0	1	0	20	47				
METTL25	84190	broad.mit.edu	37	12	82752588	82752588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:82752588G>A	ENST00000248306.3	+	1	313	c.244G>A	c.(244-246)Gca>Aca	p.A82T	CCDC59_ENST00000256151.7_5'Flank|METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000548126.1_5'Flank	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	82							methyltransferase activity (GO:0008168)										CCTAGTGGAAGCAGAGTGGGA	0.687											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248306.3																			0											c.(244-246)Gca>Aca		methyltransferase like 25																																				SO:0001583	missense	84190							g.chr12:82752588G>A	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.244G>A	12.37:g.82752588G>A	ENSP00000248306:p.Ala82Thr		OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1216	METTL25_ENST00000547357.1_3'UTR	p.A82T	NM_032230.2	NP_115606.2					1	313	+								Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.244G>A	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656669	0.29425	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.30714	1.52	5.49	1.4	0.22301	.	0.769607	0.12317	N	0.479670	T	0.25680	0.0625	M	0.69823	2.125	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34725	-0.9817	10	0.14656	T	0.56	2.3081	3.2492	0.06808	0.1627:0.1552:0.5679:0.1143	.	82	Q8N6Q8	CL026_HUMAN	T	82	ENSP00000248306:A82T	ENSP00000248306:A82T	A	+	1	0	C12orf26	81276719	0.126000	0.22350	0.143000	0.22291	0.200000	0.23975	0.498000	0.22530	0.261000	0.21753	0.650000	0.86243	GCA		0.687	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		16	19	0	0	0	1	0	16	19				
RABGAP1	23637	broad.mit.edu	37	9	125746982	125746982	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:125746982G>A	ENST00000373647.4	+	3	503	c.369G>A	c.(367-369)gtG>gtA	p.V123V		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	123					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GCCTACCAGTGAAACCTGGAC	0.448																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(367-369)gtG>gtA		RAB GTPase activating protein 1							95.0	79.0	85.0					9																	125746982		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125746982G>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.369G>A	9.37:g.125746982G>A							p.V123V	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			3	503	+			123					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.369G>A	CCDS6848.2																																																																																				0.448	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		18	25	0	0	0	1	0	18	25				
DCST2	127579	broad.mit.edu	37	1	154997013	154997013	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:154997013G>A	ENST00000368424.3	-	11	1735	c.1677C>T	c.(1675-1677)caC>caT	p.H559H	DCST2_ENST00000295536.5_Silent_p.H559H	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	559						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCACTGATCGGTGCAGGGCAG	0.607																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1675-1677)caC>caT		DC-STAMP domain containing 2							69.0	63.0	65.0					1																	154997013		2203	4300	6503	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:154997013G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1677C>T	1.37:g.154997013G>A						DCST2_ENST00000295536.5_Silent_p.H559H	p.H559H	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	1735	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		559					Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.1677C>T	CCDS1082.2																																																																																				0.607	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		21	45	0	0	0	1	0	21	45				
NRG1	3084	broad.mit.edu	37	8	32621777	32621777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:32621777C>T	ENST00000405005.3	+	12	1780	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	NRG1_ENST00000356819.4_Missense_Mutation_p.P599S|NRG1_ENST00000519301.1_Missense_Mutation_p.P544S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.P591S|NRG1_ENST00000287845.5_Missense_Mutation_p.P565S|NRG1_ENST00000539990.1_Missense_Mutation_p.P437S|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000338921.4_Missense_Mutation_p.P602S			Q02297	NRG1_HUMAN	neuregulin 1	594					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.P599A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATACAGAACCCCCTGGCAGC	0.552																																						ENST00000338921.4																			1	Substitution - Missense(1)	p.P599A(1)	ovary(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1804-1806)Ccc>Tcc		neuregulin 1							64.0	70.0	68.0					8																	32621777		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621777C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1780C>T	8.37:g.32621777C>T	ENSP00000384620:p.Pro594Ser					NRG1_ENST00000539990.1_Missense_Mutation_p.P437S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Missense_Mutation_p.P594S|NRG1_ENST00000356819.4_Missense_Mutation_p.P599S|NRG1_ENST00000405005.2_Missense_Mutation_p.P594S|NRG1_ENST00000287842.3_Missense_Mutation_p.P591S|NRG1_ENST00000519301.1_Missense_Mutation_p.P544S|NRG1_ENST00000287845.5_Missense_Mutation_p.P565S	p.P602S			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	2321	+		Breast(100;0.203)	594					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1804C>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058661	0.55325	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.95	5.95	0.96441	Neuregulin 1-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	L	0.45581	1.43	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.998;0.999;1.0;0.999	T	0.70831	-0.4765	9	.	.	.	-1.3165	20.3789	0.98926	0.0:1.0:0.0:0.0	.	437;565;599;602;591;594;599	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	S	544;667;602;599;594;565;591;594;437	ENSP00000429582:P544S;ENSP00000429067:P667S;ENSP00000343395:P602S;ENSP00000349275:P599S;ENSP00000287840:P594S;ENSP00000287845:P565S;ENSP00000287842:P591S;ENSP00000384620:P594S;ENSP00000439276:P437S	.	P	+	1	0	NRG1	32741319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.615000	0.54167	2.826000	0.97356	0.563000	0.77884	CCC		0.552	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			20	38	0	0	0	1	0	20	38				
CIDEB	27141	broad.mit.edu	37	14	24779991	24779991	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24779991G>A	ENST00000336557.5	-	0	610				LTB4R2_ENST00000533293.1_Missense_Mutation_p.V41M|LTB4R2_ENST00000528054.1_Missense_Mutation_p.V72M|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.V41M|CIDEB_ENST00000555817.1_5'Flank|LTB4R_ENST00000396789.4_5'Flank|LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000258807.5_De_novo_Start_InFrame			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b						apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		CAACGGCTTCGTGGTGTGGAG	0.721																																						ENST00000336557.5																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7								cell death-inducing DFFA-like effector b							22.0	24.0	23.0					14																	24779991		2201	4297	6498			27141				apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol		g.chr14:24779991G>A	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.-693C>T	14.37:g.24779991G>A						LTB4R2_ENST00000528054.1_Missense_Mutation_p.V72M|LTB4R2_ENST00000533293.1_Missense_Mutation_p.V41M|CIDEB_ENST00000258807.5_De_novo_Start_InFrame|LTB4R2_ENST00000543919.1_Missense_Mutation_p.V41M				Q9UHD4	CIDEB_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	0	610	-								D3DS73|Q546V8|Q9NNW9	Translation_Start_Site	SNP	ENST00000336557.5	37		CCDS32056.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169382	0.78339	.	.	ENSG00000213906	ENST00000527924;ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.171178	0.37809	U	0.001931	D	0.91610	0.7349	M	0.83603	2.65	0.38402	D	0.945693	D	0.89917	1.0	D	0.79784	0.993	D	0.92934	0.6366	10	0.87932	D	0	.	9.9102	0.41401	0.0926:0.0:0.9074:0.0	.	72	Q9NPC1	LT4R2_HUMAN	M	41;72;41;41;41	ENSP00000436668:V41M;ENSP00000432146:V72M;ENSP00000433290:V41M;ENSP00000445772:V41M;ENSP00000434760:V41M	ENSP00000337731:V72M	V	+	1	0	LTB4R2	23849831	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	4.710000	0.61873	2.470000	0.83445	0.561000	0.74099	GTG		0.721	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1			22	14	0	0	0	1	0	22	14				
HSP90B1	7184	broad.mit.edu	37	12	104324308	104324308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:104324308G>A	ENST00000299767.5	+	1	197	c.15G>A	c.(13-15)tgG>tgA	p.W5*	MIR3652_ENST00000579335.1_RNA|RP11-642P15.1_ENST00000548897.1_RNA	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	5					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GGGCCCTGTGGGTGCTGGGCC	0.677																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(13-15)tgG>tgA		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						31.0	28.0	29.0					12																	104324308		2203	4299	6502	SO:0001587	stop_gained	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104324308G>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.15G>A	12.37:g.104324308G>A	ENSP00000299767:p.Trp5*					MIR3652_ENST00000579335.1_RNA	p.W5*	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			1	197	+			5					Q96A97	Nonsense_Mutation	SNP	ENST00000299767.5	37	c.15G>A	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	37	6.330349	0.97480	.	.	ENSG00000166598	ENST00000299767;ENST00000421266;ENST00000537375	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3294	0.94280	0.0:0.0:1.0:0.0	.	.	.	.	X	5	.	ENSP00000299767:W5X	W	+	3	0	HSP90B1	102848438	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.267000	0.89874	2.804000	0.96469	0.462000	0.41574	TGG		0.677	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		3	10	0	0	0	1	0	3	10				
TMEM45A	55076	broad.mit.edu	37	3	100277415	100277415	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:100277415G>A	ENST00000323523.4	+	4	883	c.570G>A	c.(568-570)caG>caA	p.Q190Q	TMEM45A_ENST00000403410.1_Silent_p.Q206Q	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	190						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TTCTGCTTCAGGGGAGCTGGT	0.483																																						ENST00000403410.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						c.(616-618)caG>caA		transmembrane protein 45A							207.0	202.0	204.0					3																	100277415		2203	4300	6503	SO:0001819	synonymous_variant	55076					integral to membrane		g.chr3:100277415G>A	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.570G>A	3.37:g.100277415G>A						TMEM45A_ENST00000323523.4_Silent_p.Q190Q	p.Q206Q			Q9NWC5	TM45A_HUMAN			6	1238	+			190					Q53YW5	Silent	SNP	ENST00000323523.4	37	c.618G>A	CCDS2937.1																																																																																				0.483	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		8	186	0	0	0	1	0	8	186				
EPB41L4B	54566	broad.mit.edu	37	9	112029802	112029802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:112029802C>T	ENST00000374566.3	-	4	1001	c.484G>A	c.(484-486)Gtt>Att	p.V162I	AL358815.1_ENST00000578641.1_RNA|EPB41L4B_ENST00000374557.4_Missense_Mutation_p.V162I	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAGTATTTAACTCGAAAGTGT	0.448																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(484-486)Gtt>Att		erythrocyte membrane protein band 4.1 like 4B							126.0	122.0	123.0					9																	112029802		1916	4133	6049	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112029802C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.484G>A	9.37:g.112029802C>T	ENSP00000363694:p.Val162Ile					EPB41L4B_ENST00000374557.4_Missense_Mutation_p.V162I	p.V162I	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			4	1001	-			162			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.484G>A	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843212	0.51057	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.92199	-2.99;-2.99	5.59	4.47	0.54385	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.33327	N	0.005027	D	0.91466	0.7306	M	0.79926	2.475	0.51482	D	0.999928	P;B	0.49447	0.924;0.092	P;B	0.46510	0.519;0.361	D	0.90530	0.4495	10	0.56958	D	0.05	.	5.0466	0.14487	0.0:0.7401:0.0:0.2599	.	162;162	Q9H329-2;Q9H329	.;E41LB_HUMAN	I	162;162;84	ENSP00000363694:V162I;ENSP00000363685:V162I	ENSP00000311274:V84I	V	-	1	0	EPB41L4B	111069623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.468000	0.45102	2.783000	0.95769	0.655000	0.94253	GTT		0.448	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		24	40	0	0	0	1	0	24	40				
MPHOSPH9	10198	broad.mit.edu	37	12	123687551	123687551	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123687551G>A	ENST00000606320.1	-	10	1607	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	MPHOSPH9_ENST00000302349.5_Silent_p.A315A|MPHOSPH9_ENST00000392425.3_Silent_p.A315A|MPHOSPH9_ENST00000541076.2_Silent_p.A437A			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	467						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGTCATCAAGGGCATTCGGAA	0.463																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(1399-1401)gcC>gcT		M-phase phosphoprotein 9							116.0	125.0	122.0					12																	123687551		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687551G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1401C>T	12.37:g.123687551G>A						MPHOSPH9_ENST00000541076.2_Silent_p.A437A|MPHOSPH9_ENST00000392425.3_Silent_p.A315A|MPHOSPH9_ENST00000302349.5_Silent_p.A315A	p.A467A			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	10	1607	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		315					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.1401C>T		.	.	.	.	.	.	.	.	.	.	G	4.936	0.173945	0.09391	.	.	ENSG00000257076	ENST00000539336	.	.	.	6.03	-4.32	0.03688	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28522	-1.0041	4	.	.	.	0.2459	2.1377	0.03766	0.458:0.1731:0.249:0.1199	.	.	.	.	S	325	.	.	P	-	1	0	RP11-546D6.2	122253504	0.000000	0.05858	0.000000	0.03702	0.725000	0.41563	-0.243000	0.08915	-0.445000	0.07159	0.557000	0.71058	CCT		0.463	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			28	162	0	0	0	1	0	28	162				
HAVCR2	84868	broad.mit.edu	37	5	156522331	156522331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:156522331G>A	ENST00000307851.4	-	5	1392	c.662C>T	c.(661-663)gCt>gTt	p.A221V	HAVCR2_ENST00000522593.1_Missense_Mutation_p.A193V	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	221						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAAATTAAAGCGCCGAAGAT	0.428																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(661-663)gCt>gTt		hepatitis A virus cellular receptor 2							88.0	88.0	88.0					5																	156522331		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156522331G>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.662C>T	5.37:g.156522331G>A	ENSP00000312002:p.Ala221Val					HAVCR2_ENST00000522593.1_Missense_Mutation_p.A193V	p.A221V	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	1392	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	221					B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.662C>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	G	2.157	-0.393080	0.04899	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.15256	2.44;2.74	4.07	-2.06	0.07298	.	0.992428	0.08179	N	0.985816	T	0.05914	0.0154	N	0.05383	-0.06	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.39165	-0.9627	10	0.02654	T	1	0.3089	4.9786	0.14153	0.5182:0.1656:0.3162:0.0	.	221	Q8TDQ0	HAVR2_HUMAN	V	221;193	ENSP00000312002:A221V;ENSP00000430873:A193V	ENSP00000312002:A221V	A	-	2	0	HAVCR2	156454909	0.001000	0.12720	0.000000	0.03702	0.479000	0.33129	-0.356000	0.07661	-0.475000	0.06852	-0.768000	0.03414	GCT		0.428	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			32	52	0	0	0	1	0	32	52				
AQP3	360	broad.mit.edu	37	9	33442908	33442908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:33442908C>T	ENST00000297991.4	-	4	514	c.434G>A	c.(433-435)gGc>gAc	p.G145D	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	145					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGCAAAGATGCCGGCTGTGCC	0.567																																						ENST00000297991.4																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(433-435)gGc>gAc		aquaporin 3 (Gill blood group)							143.0	142.0	142.0					9																	33442908		2203	4300	6503	SO:0001583	missense	360				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	g.chr9:33442908C>T		CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.434G>A	9.37:g.33442908C>T	ENSP00000297991:p.Gly145Asp					AQP3_ENST00000493581.1_5'UTR	p.G145D	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)	4	514	-			145					A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	ENST00000297991.4	37	c.434G>A	CCDS6542.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801104	0.90538	.	.	ENSG00000165272	ENST00000297991;ENST00000343952	T	0.13420	2.59	5.91	5.0	0.66597	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.971;1.0	T	0.65203	-0.6225	10	0.59425	D	0.04	-17.3844	17.2299	0.86982	0.0:0.8743:0.1257:0.0	.	145;145	C9JAH5;Q92482	.;AQP3_HUMAN	D	145	ENSP00000297991:G145D	ENSP00000297991:G145D	G	-	2	0	AQP3	33432908	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	4.892000	0.63193	1.489000	0.48450	0.655000	0.94253	GGC		0.567	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925		46	73	0	0	0	1	0	46	73				
HIAT1	64645	broad.mit.edu	37	1	100515477	100515477	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100515477G>A	ENST00000370152.3	+	2	233	c.97G>A	c.(97-99)Ggt>Agt	p.G33S		NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	33					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TCAAGGAATAGGTTCTCCTAG	0.308																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(97-99)Ggt>Agt		hippocampus abundant transcript 1							125.0	120.0	122.0					1																	100515477		2203	4300	6503	SO:0001583	missense	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100515477G>A	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.97G>A	1.37:g.100515477G>A	ENSP00000359171:p.Gly33Ser						p.G33S	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	2	233	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	33					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	c.97G>A	CCDS763.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151605	0.94645	.	.	ENSG00000156875	ENST00000370152	T	0.34472	1.36	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	M	0.66939	2.045	0.80722	D	1	P	0.39847	0.691	B	0.42555	0.391	T	0.05801	-1.0863	10	0.34782	T	0.22	-31.2016	20.5632	0.99335	0.0:0.0:1.0:0.0	.	33	Q96MC6	HIAT1_HUMAN	S	33	ENSP00000359171:G33S	ENSP00000359171:G33S	G	+	1	0	HIAT1	100288065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.662000	0.98603	2.937000	0.99478	0.650000	0.86243	GGT		0.308	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		6	82	0	0	0	1	0	6	82				
RAG2	5897	broad.mit.edu	37	11	36614304	36614304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:36614304C>T	ENST00000311485.3	-	2	1576	c.1415G>A	c.(1414-1416)gGa>gAa	p.G472E	C11orf74_ENST00000347206.4_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	472					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CTTGTTGCTTCCTGCTGACAG	0.498									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(1414-1416)gGa>gAa		recombination activating gene 2							118.0	106.0	110.0					11																	36614304		2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614304C>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1415G>A	11.37:g.36614304C>T	ENSP00000308620:p.Gly472Glu						p.G472E	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	1576	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	472					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1415G>A	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717909	0.48622	.	.	ENSG00000175097	ENST00000311485	D	0.95518	-3.73	5.37	5.37	0.77165	.	0.250678	0.39759	N	0.001276	D	0.90414	0.6999	N	0.11341	0.13	0.33290	D	0.563372	P	0.50710	0.938	P	0.52031	0.688	D	0.88915	0.3362	10	0.27082	T	0.32	-12.1264	5.1034	0.14772	0.1418:0.6235:0.1552:0.0795	.	472	P55895	RAG2_HUMAN	E	472	ENSP00000308620:G472E	ENSP00000308620:G472E	G	-	2	0	RAG2	36570880	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.970000	0.49240	2.684000	0.91462	0.650000	0.86243	GGA		0.498	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		35	63	0	0	0	1	0	35	63				
TMEM132B	114795	broad.mit.edu	37	12	125834449	125834449	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:125834449G>A	ENST00000299308.3	+	2	512	c.504G>A	c.(502-504)agG>agA	p.R168R	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	168						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGAGGCCAGGGAAGTGGCAG	0.587																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(502-504)agG>agA		transmembrane protein 132B							74.0	77.0	76.0					12																	125834449		2003	4196	6199	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:125834449G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.504G>A	12.37:g.125834449G>A						TMEM132B_ENST00000418253.2_3'UTR	p.R168R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	512	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		168					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.504G>A	CCDS41859.1																																																																																				0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		34	97	0	0	0	1	0	34	97				
DCAF7	10238	broad.mit.edu	37	17	61666402	61666402	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61666402G>A	ENST00000310827.4	+	8	1114	c.897G>A	c.(895-897)atG>atA	p.M299I	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Missense_Mutation_p.M99I	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	299					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TCCAGCAAATGCCCCGAGCCA	0.552																																						ENST00000310827.4																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						c.(895-897)atG>atA		DDB1 and CUL4 associated factor 7							60.0	59.0	60.0					17																	61666402		2026	4176	6202	SO:0001583	missense	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61666402G>A	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.897G>A	17.37:g.61666402G>A	ENSP00000308344:p.Met299Ile					DCAF7_ENST00000415273.2_Missense_Mutation_p.M99I|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron	p.M299I	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN			8	1114	+			299					B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37	c.897G>A		.	.	.	.	.	.	.	.	.	.	G	17.66	3.444435	0.63178	.	.	ENSG00000136485	ENST00000310827;ENST00000415273	T;T	0.16897	2.79;2.31	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.076294	0.85682	D	0.000000	T	0.16471	0.0396	.	.	.	0.80722	D	1	B;B	0.27450	0.179;0.004	B;B	0.22386	0.039;0.009	T	0.03231	-1.1058	9	0.39692	T	0.17	-32.7767	18.3852	0.90464	0.0:0.0:1.0:0.0	.	99;299	B4E039;P61962	.;DCAF7_HUMAN	I	299;99	ENSP00000308344:M299I;ENSP00000403920:M99I	ENSP00000308344:M299I	M	+	3	0	DCAF7	59020134	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.652000	0.98499	2.572000	0.86782	0.563000	0.77884	ATG		0.552	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		13	24	0	0	0	1	0	13	24				
RPRD1A	55197	broad.mit.edu	37	18	33613705	33613705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:33613705G>A	ENST00000399022.4	-	2	418	c.247C>T	c.(247-249)Cca>Tca	p.P83S	RPRD1A_ENST00000588737.1_Missense_Mutation_p.P47S|RPRD1A_ENST00000590898.1_Missense_Mutation_p.P47S|RPRD1A_ENST00000357384.4_Missense_Mutation_p.P83S|RPRD1A_ENST00000319040.6_Missense_Mutation_p.P83S|RPRD1A_ENST00000337059.5_Missense_Mutation_p.P47S	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	83	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						ACTATAACTGGTGCAAAATCT	0.373																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(247-249)Cca>Tca		regulation of nuclear pre-mRNA domain containing 1A							136.0	123.0	128.0					18																	33613705		2203	4300	6503	SO:0001583	missense	55197							g.chr18:33613705G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.247C>T	18.37:g.33613705G>A	ENSP00000381984:p.Pro83Ser					RPRD1A_ENST00000590898.1_Missense_Mutation_p.P47S|RPRD1A_ENST00000319040.6_Missense_Mutation_p.P83S|RPRD1A_ENST00000337059.5_Missense_Mutation_p.P47S|RPRD1A_ENST00000357384.4_Missense_Mutation_p.P83S|RPRD1A_ENST00000588737.1_Missense_Mutation_p.P47S	p.P83S	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			2	418	-			83			CID.		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.247C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	8.829	0.939536	0.18281	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.13	5.13	0.70059	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	N	0.21240	0.645	0.80722	D	1	B;B;B	0.19583	0.02;0.037;0.007	B;B;B	0.24006	0.018;0.05;0.018	T	0.08086	-1.0739	10	0.07482	T	0.82	-9.7936	16.4592	0.84031	0.0:0.0:1.0:0.0	.	83;83;47	Q96P16-2;Q96P16;Q96P16-3	.;RPR1A_HUMAN;.	S	83;83;47;83	ENSP00000381984:P83S;ENSP00000349955:P83S;ENSP00000337476:P47S;ENSP00000314602:P83S	ENSP00000314602:P83S	P	-	1	0	RPRD1A	31867703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.810000	0.75216	2.547000	0.85894	0.591000	0.81541	CCA		0.373	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		5	86	0	0	0	1	0	5	86				
BNC1	646	broad.mit.edu	37	15	83932052	83932052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:83932052C>T	ENST00000345382.2	-	4	2036	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	BNC1_ENST00000569704.1_Missense_Mutation_p.D644N|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	651					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGGCCACCATCCTCGACCTCC	0.557																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(1951-1953)Gat>Aat		basonuclin 1							121.0	120.0	121.0					15																	83932052		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83932052C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1951G>A	15.37:g.83932052C>T	ENSP00000307041:p.Asp651Asn					BNC1_ENST00000569704.1_Missense_Mutation_p.D644N|RP11-382A20.4_ENST00000565495.1_RNA	p.D651N	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			4	2036	-			651					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.1951G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.451007	0.26074	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.43294	0.95	4.79	1.56	0.23342	.	1.184430	0.05782	N	0.608730	T	0.30355	0.0762	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30060	-0.9991	10	0.46703	T	0.11	-3.4365	1.4157	0.02301	0.2426:0.4475:0.1221:0.1878	.	644;651	F5GY04;Q01954	.;BNC1_HUMAN	N	651;644	ENSP00000307041:D651N	ENSP00000307041:D651N	D	-	1	0	BNC1	81723056	0.000000	0.05858	0.008000	0.14137	0.652000	0.38707	0.343000	0.19944	0.591000	0.29711	0.655000	0.94253	GAT		0.557	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		28	77	0	0	0	1	0	28	77				
DHX37	57647	broad.mit.edu	37	12	125473484	125473484	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:125473484G>A	ENST00000308736.2	-	1	183	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	29							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGCTGCACGGGGGGCGGCTCG	0.706																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(85-87)Ccc>Tcc		DEAH (Asp-Glu-Ala-His) box polypeptide 37							10.0	14.0	13.0					12																	125473484		1801	3843	5644	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125473484G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.85C>T	12.37:g.125473484G>A	ENSP00000311135:p.Pro29Ser						p.P29S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	1	183	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		29					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.85C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	g	6.178	0.401002	0.11696	.	.	ENSG00000150990	ENST00000308736	T	0.02656	4.21	4.68	3.78	0.43462	.	0.640402	0.13527	N	0.381241	T	0.03348	0.0097	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46735	-0.9170	10	0.10111	T	0.7	-17.5799	7.8679	0.29547	0.0:0.1784:0.6369:0.1847	.	29	Q8IY37	DHX37_HUMAN	S	29	ENSP00000311135:P29S	ENSP00000311135:P29S	P	-	1	0	DHX37	124039437	0.669000	0.27502	0.070000	0.20053	0.135000	0.20990	2.119000	0.41958	1.182000	0.42928	0.558000	0.71614	CCC		0.706	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		7	13	0	0	0	1	0	7	13				
TULP4	56995	broad.mit.edu	37	6	158900784	158900784	+	Splice_Site	SNP	G	G	A	rs377084462		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158900784G>A	ENST00000367097.3	+	7	2385	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	TULP4_ENST00000367094.2_Splice_Site_p.R343H	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	343					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCCTGCCAGCGCCCCATCATC	0.532																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.e7-1		tubby like protein 4		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	53.0	48.0	50.0		1028,1028	5.6	1.0	6		50	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	TULP4	NM_001007466.1,NM_020245.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	343/679,343/1544	158900784	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158900784G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1027-1G>A	6.37:g.158900784G>A						TULP4_ENST00000367094.2_Splice_Site_p.R343_splice	p.R343_splice	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	7	2385	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	343					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Splice_Site	SNP	ENST00000367097.3	37	c.1026_splice	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930677	0.92389	0.0	1.16E-4	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.17213	2.29;2.29	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.175606	0.48286	D	0.000199	T	0.19886	0.0478	M	0.62723	1.935	0.80722	D	1	D;P;D	0.54397	0.958;0.872;0.966	B;B;P	0.48030	0.362;0.337;0.564	T	0.00824	-1.1551	10	0.48119	T	0.1	-8.2657	19.6786	0.95946	0.0:0.0:1.0:0.0	.	343;343;343	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	H	343	ENSP00000356064:R343H;ENSP00000356061:R343H	ENSP00000356061:R343H	R	+	2	0	TULP4	158820772	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.249000	0.95470	2.651000	0.90000	0.561000	0.74099	CGC		0.532	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	Missense_Mutation	13	43	0	0	0	1	0	13	43				
INCENP	3619	broad.mit.edu	37	11	61895702	61895702	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:61895702C>T	ENST00000394818.3	+	2	271	c.69C>T	c.(67-69)ctC>ctT	p.L23L	INCENP_ENST00000278849.4_Silent_p.L23L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	23					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGAGTTTCTCTGCAACATGG	0.567																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(67-69)ctC>ctT		inner centromere protein antigens 135/155kDa							92.0	87.0	88.0					11																	61895702		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61895702C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.69C>T	11.37:g.61895702C>T						INCENP_ENST00000278849.4_Silent_p.L23L	p.L23L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			2	271	+			23					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.69C>T	CCDS44624.1																																																																																				0.567	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		16	32	0	0	0	1	0	16	32				
TNNT1	7138	broad.mit.edu	37	19	55656912	55656912	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55656912C>T	ENST00000588981.1	-	6	332	c.128G>A	c.(127-129)aGc>aAc	p.S43N	TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000587758.1_Splice_Site_p.S32N|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000291901.8_Splice_Site_p.S43N|TNNT1_ENST00000356783.5_Splice_Site_p.S32N|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000536926.1_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	43					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		AGGATCTCACCTTGGTTTGGG	0.532																																						ENST00000588981.1																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.e6+1		troponin T type 1 (skeletal, slow)							174.0	180.0	178.0					19																	55656912		2203	4300	6503	SO:0001630	splice_region_variant	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55656912C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.128+1G>A	19.37:g.55656912C>T						TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000587758.1_Splice_Site_p.S32_splice|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000356783.5_Splice_Site_p.S32_splice|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000291901.8_Splice_Site_p.S43_splice	p.S43_splice	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	6	332	-			43					O95472|Q16061|Q5U0E1	Splice_Site	SNP	ENST00000588981.1	37	c.128_splice	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317525	0.23908	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000429737	T;T	0.10099	2.93;2.91	3.72	2.63	0.31362	.	0.086077	0.41823	U	0.000815	T	0.09113	0.0225	L	0.39898	1.24	0.36892	D	0.889945	B;B;B;B	0.17667	0.0;0.003;0.006;0.023	B;B;B;B	0.12156	0.001;0.004;0.007;0.007	T	0.18903	-1.0322	9	.	.	.	-15.7348	11.2397	0.48962	0.0:0.8115:0.1885:0.0	.	43;32;43;43	Q56R94;P13805-2;P13805-3;P13805	.;.;.;TNNT1_HUMAN	N	43;32;58	ENSP00000291901:S43N;ENSP00000349233:S32N	.	S	-	2	0	TNNT1	60348724	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.285000	0.51716	0.806000	0.34183	0.590000	0.80494	AGC		0.532	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283	Missense_Mutation	73	128	0	0	0	1	0	73	128				
POLR3A	11128	broad.mit.edu	37	10	79781975	79781975	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:79781975C>T	ENST00000372371.3	-	6	950	c.813G>A	c.(811-813)aaG>aaA	p.K271K	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	271					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)			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)			TGGTGCCAGACTTCAAATCAC	0.423																																						ENST00000372371.3																			0				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						c.(811-813)aaG>aaA		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							86.0	80.0	82.0					10																	79781975		2203	4300	6503	SO:0001819	synonymous_variant	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79781975C>T	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.813G>A	10.37:g.79781975C>T							p.K271K	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		6	950	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		271					Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	c.813G>A	CCDS7354.1																																																																																				0.423	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		5	61	0	0	0	1	0	5	61				
IDO1	3620	broad.mit.edu	37	8	39785390	39785390	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:39785390C>T	ENST00000518237.1	+	10	1537	c.898C>T	c.(898-900)Cca>Tca	p.P300S	IDO1_ENST00000522495.1_Missense_Mutation_p.P300S|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	300					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	AAGATATATGCCACCAGCTCA	0.483																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(898-900)Cca>Tca		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						41.0	39.0	40.0					8																	39785390		1964	4167	6131	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39785390C>T	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.898C>T	8.37:g.39785390C>T	ENSP00000430950:p.Pro300Ser					IDO1_ENST00000522495.1_Missense_Mutation_p.P300S|RP11-44K6.3_ENST00000517623.1_RNA	p.P300S	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			10	1537	+			300					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.898C>T	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182304	0.78677	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.65732	-0.17;-0.17	5.37	5.37	0.77165	.	0.075150	0.53938	D	0.000059	T	0.82208	0.4987	M	0.89601	3.045	0.46609	D	0.999123	D	0.89917	1.0	D	0.97110	1.0	D	0.84838	0.0806	9	.	.	.	-23.6723	14.4859	0.67616	0.0:1.0:0.0:0.0	.	300	P14902	I23O1_HUMAN	S	300	ENSP00000430505:P300S;ENSP00000430950:P300S	.	P	+	1	0	IDO1	39904547	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.427000	0.66483	2.793000	0.96121	0.563000	0.77884	CCA		0.483	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		3	12	0	0	0	1	0	3	12				
PHKA2	5256	broad.mit.edu	37	X	18926018	18926018	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:18926018C>T	ENST00000379942.4	-	22	3182	c.2517G>A	c.(2515-2517)gaG>gaA	p.E839E		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	839					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCGCACTGACCTCAGCCAGGA	0.542																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.e22+1		phosphorylase kinase, alpha 2 (liver)							122.0	102.0	109.0					X																	18926018		2203	4300	6503	SO:0001630	splice_region_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18926018C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2517+1G>A	X.37:g.18926018C>T							p.E839_splice	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			22	3182	-	Hepatocellular(33;0.183)		839					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Splice_Site	SNP	ENST00000379942.4	37	c.2517_splice	CCDS14190.1																																																																																				0.542	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	Silent	34	87	0	0	0	1	0	34	87				
SECISBP2L	9728	broad.mit.edu	37	15	49304983	49304983	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:49304983G>A	ENST00000559471.1	-	12	1856	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	SECISBP2L_ENST00000261847.3_Silent_p.D486D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	531							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TATTAGTAGAGTCTTTAGTGT	0.353																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(1591-1593)gaC>gaT		SECIS binding protein 2-like							80.0	87.0	85.0					15																	49304983		2197	4295	6492	SO:0001819	synonymous_variant	9728							g.chr15:49304983G>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1593C>T	15.37:g.49304983G>A						SECISBP2L_ENST00000261847.3_Silent_p.D486D	p.D531D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			12	1856	-			531					Q8N767	Silent	SNP	ENST00000559471.1	37	c.1593C>T	CCDS53942.1																																																																																				0.353	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		9	86	0	0	0	1	0	9	86				
ALDH1B1	219	broad.mit.edu	37	9	38395805	38395805	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:38395805C>T	ENST00000377698.3	+	2	213	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	20					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)			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)		CCCGCTACTCCTCGGCAGCAG	0.577																																						ENST00000377698.3																			0				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						c.(58-60)tcC>tcT		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						68.0	65.0	66.0					9																	38395805		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38395805C>T	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.60C>T	9.37:g.38395805C>T							p.S20S	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	213	+			20					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.60C>T	CCDS6615.1																																																																																				0.577	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			7	56	0	0	0	1	0	7	56				
WNT8B	7479	broad.mit.edu	37	10	102242265	102242265	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:102242265G>A	ENST00000343737.5	+	6	876	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	250					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GGTGCACCTGGAGGACTCCCC	0.692											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343737.5																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(748-750)Gag>Aag		wingless-type MMTV integration site family, member 8B							17.0	19.0	19.0					10																	102242265		2201	4298	6499	SO:0001583	missense	7479				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr10:102242265G>A	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.748G>A	10.37:g.102242265G>A	ENSP00000340677:p.Glu250Lys		OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1365		p.E250K	NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	6	876	+		Colorectal(252;0.117)	250					O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	c.748G>A	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515479	0.96402	.	.	ENSG00000075290	ENST00000343737	T	0.77358	-1.09	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.90705	0.4623	10	0.87932	D	0	.	18.5899	0.91206	0.0:0.0:1.0:0.0	.	250	Q93098	WNT8B_HUMAN	K	250	ENSP00000340677:E250K	ENSP00000340677:E250K	E	+	1	0	WNT8B	102232255	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	9.789000	0.99068	2.398000	0.81561	0.313000	0.20887	GAG		0.692	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		7	9	0	0	0	1	0	7	9				
DNAJC14	85406	broad.mit.edu	37	12	56222351	56222351	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56222351G>A	ENST00000357606.3	-	3	381	c.92C>T	c.(91-93)cCt>cTt	p.P31L	DNAJC14_ENST00000317269.3_Missense_Mutation_p.P31L|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.P31L			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	31					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGGTATTTCAGGGTCCACGGA	0.592																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(91-93)cCt>cTt		DnaJ (Hsp40) homolog, subfamily C, member 14							116.0	107.0	110.0					12																	56222351		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222351G>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.92C>T	12.37:g.56222351G>A	ENSP00000350223:p.Pro31Leu					DNAJC14_ENST00000317269.3_Missense_Mutation_p.P31L|DNAJC14_ENST00000317287.5_Missense_Mutation_p.P31L	p.P31L			Q6Y2X3	DJC14_HUMAN			3	381	-			31					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.92C>T	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321471	0.60634	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445;ENST00000546957	T;T;T	0.51325	0.71;0.71;0.71	5.82	4.93	0.64822	.	0.170176	0.41396	D	0.000888	T	0.51890	0.1701	N	0.19112	0.55	0.47778	D	0.99951	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.55964	-0.8057	10	0.59425	D	0.04	-10.6446	11.0561	0.47920	0.0851:0.0:0.9149:0.0	.	31;31	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	L	31	ENSP00000350223:P31L;ENSP00000316240:P31L;ENSP00000317500:P31L	ENSP00000316240:P31L	P	-	2	0	DNAJC14	54508618	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.302000	0.59092	1.615000	0.50252	0.637000	0.83480	CCT		0.592	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		9	92	0	0	0	1	0	9	92				
ZDHHC19	131540	broad.mit.edu	37	3	195925176	195925176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195925176C>T	ENST00000296326.3	-	7	999	c.920G>A	c.(919-921)gGg>gAg	p.G307E		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	307						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TCACCACGCCCCGGGGGTCCC	0.637																																						ENST00000296326.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14						c.(919-921)gGg>gAg		zinc finger, DHHC-type containing 19							23.0	27.0	26.0					3																	195925176		2013	4189	6202	SO:0001583	missense	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195925176C>T	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.920G>A	3.37:g.195925176C>T	ENSP00000296326:p.Gly307Glu						p.G307E	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	7	999	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		307					A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	c.920G>A	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	C	9.959	1.222389	0.22457	.	.	ENSG00000163958	ENST00000296326	T	0.32753	1.44	4.51	3.64	0.41730	.	.	.	.	.	T	0.28433	0.0703	L	0.50333	1.59	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.21586	-1.0241	9	0.62326	D	0.03	-2.0E-4	8.5566	0.33485	0.0:0.8939:0.0:0.1061	.	307	Q8WVZ1	ZDH19_HUMAN	E	307	ENSP00000296326:G307E	ENSP00000296326:G307E	G	-	2	0	ZDHHC19	197409573	0.121000	0.22262	0.228000	0.23943	0.006000	0.05464	1.275000	0.33144	1.264000	0.44198	0.563000	0.77884	GGG		0.637	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		15	17	0	0	0	1	0	15	17				
SLC25A4	291	broad.mit.edu	37	4	186066058	186066058	+	Silent	SNP	C	C	T	rs145413043	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:186066058C>T	ENST00000281456.6	+	2	384	c.252C>T	c.(250-252)acC>acT	p.T84T		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	84					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	ACTTCCCCACCCAAGCTCTCA	0.527													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18911	0.0		0.0	False		,,,				2504	0.0					ENST00000281456.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.(250-252)acC>acT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	C		9,4397	15.5+/-35.6	0,9,2194	156.0	152.0	153.0		252	1.7	1.0	4	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	SLC25A4	NM_001151.3		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		84/299	186066058	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	291				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding	g.chr4:186066058C>T	BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.252C>T	4.37:g.186066058C>T						SLC25A4_ENST00000515584.1_3'UTR	p.T84T	NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	384	+		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	84					D3DP59	Silent	SNP	ENST00000281456.6	37	c.252C>T	CCDS34114.1																																																																																				0.527	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151		5	64	0	0	0	1	0	5	64				
KIF14	9928	broad.mit.edu	37	1	200567377	200567377	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:200567377G>A	ENST00000367350.4	-	14	2975	c.2537C>T	c.(2536-2538)gCt>gTt	p.A846V		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	846	FHA.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATGATCATCAGCAATCAGCAC	0.348																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(2536-2538)gCt>gTt		kinesin family member 14							133.0	123.0	126.0					1																	200567377		2203	4299	6502	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200567377G>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2537C>T	1.37:g.200567377G>A	ENSP00000356319:p.Ala846Val						p.A846V	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			14	2975	-			846			FHA.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.2537C>T	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379158	0.82682	.	.	ENSG00000118193	ENST00000367350	D	0.86769	-2.17	5.11	5.11	0.69529	Forkhead-associated (FHA) domain (3);SMAD/FHA domain (1);	0.063063	0.64402	D	0.000010	D	0.94003	0.8079	M	0.87547	2.89	0.54753	D	0.999987	D	0.56521	0.976	D	0.64506	0.926	D	0.94550	0.7753	10	0.56958	D	0.05	.	18.5535	0.91073	0.0:0.0:1.0:0.0	.	846	Q15058	KIF14_HUMAN	V	846	ENSP00000356319:A846V	ENSP00000356319:A846V	A	-	2	0	KIF14	198834000	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	6.217000	0.72218	2.362000	0.80069	0.563000	0.77884	GCT		0.348	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		33	53	0	0	0	1	0	33	53				
COL12A1	1303	broad.mit.edu	37	6	75813479	75813479	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:75813479C>T	ENST00000322507.8	-	55	8622	c.8313G>A	c.(8311-8313)ggG>ggA	p.G2771G	COL12A1_ENST00000483888.2_Silent_p.G2771G|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000416123.2_Silent_p.G2695G|COL12A1_ENST00000345356.6_Silent_p.G1607G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2771	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				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)			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						TTACAATTGCCCCACTGATAC	0.378																																						ENST00000322507.8																			0				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						c.(8311-8313)ggG>ggA		collagen, type XII, alpha 1							102.0	95.0	97.0					6																	75813479		1829	4088	5917	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75813479C>T	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.8313G>A	6.37:g.75813479C>T						COL12A1_ENST00000416123.2_Silent_p.G2695G|COL12A1_ENST00000345356.6_Silent_p.G1607G|COL12A1_ENST00000483888.2_Silent_p.G2771G	p.G2771G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			55	8622	-			2771			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.8313G>A	CCDS43482.1																																																																																				0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		10	28	0	0	0	1	0	10	28				
ALPK3	57538	broad.mit.edu	37	15	85400093	85400093	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85400093G>A	ENST00000258888.5	+	6	2897	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	910					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGGAGAGAAGGGGACGCAGT	0.602																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2728-2730)aaG>aaA		alpha-kinase 3							137.0	143.0	141.0					15																	85400093		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400093G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2730G>A	15.37:g.85400093G>A							p.K910K	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	2897	+			910					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2730G>A	CCDS10333.1																																																																																				0.602	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		4	58	0	0	0	1	0	4	58				
GEMIN5	25929	broad.mit.edu	37	5	154278037	154278037	+	Missense_Mutation	SNP	C	C	T	rs35899504	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:154278037C>T	ENST00000285873.7	-	23	3383	c.3308G>A	c.(3307-3309)gGa>gAa	p.G1103E		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1103					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)			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)			TTCCTGGGCTCCCACCCAGTT	0.522																																						ENST00000285873.7																			0				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						c.(3307-3309)gGa>gAa		gem (nuclear organelle) associated protein 5							101.0	105.0	104.0					5																	154278037		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154278037C>T	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.3308G>A	5.37:g.154278037C>T	ENSP00000285873:p.Gly1103Glu						p.G1103E	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		23	3383	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1103					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.3308G>A	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760302	0.49468	.	.	ENSG00000082516	ENST00000285873	T	0.70282	-0.47	5.63	5.63	0.86233	.	0.188221	0.46145	D	0.000320	T	0.69269	0.3092	M	0.62723	1.935	0.44079	D	0.996835	B;B	0.26577	0.153;0.153	B;B	0.24974	0.057;0.057	T	0.69183	-0.5212	10	0.72032	D	0.01	-10.6334	15.2172	0.73277	0.0:0.86:0.14:0.0	rs35899504	1102;1103	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	E	1103	ENSP00000285873:G1103E	ENSP00000285873:G1103E	G	-	2	0	GEMIN5	154258230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.492000	0.35594	2.652000	0.90054	0.655000	0.94253	GGA		0.522	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			41	65	0	0	0	1	0	41	65				
BCL3	602	broad.mit.edu	37	19	45262738	45262738	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45262738C>T	ENST00000164227.5	+	9	1475	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	411	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCCCAGGGACCCCCCTGGATT	0.642			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1231-1233)Ccc>Tcc		B-cell CLL/lymphoma 3							184.0	199.0	194.0					19																	45262738		2203	4300	6503	SO:0001583	missense	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262738C>T	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1231C>T	19.37:g.45262738C>T	ENSP00000164227:p.Pro411Ser						p.P411S	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			9	1475	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	411			Pro/Ser-rich.			Missense_Mutation	SNP	ENST00000164227.5	37	c.1231C>T	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146568	0.37923	.	.	ENSG00000069399	ENST00000164227	T	0.39056	1.1	4.64	-2.04	0.07343	.	0.319424	0.22822	N	0.055214	T	0.21509	0.0518	N	0.19112	0.55	0.09310	N	1	B	0.24186	0.099	B	0.22753	0.041	T	0.07908	-1.0748	10	0.49607	T	0.09	-1.158	5.5478	0.17073	0.1176:0.5298:0.2689:0.0836	.	411	P20749	BCL3_HUMAN	S	411	ENSP00000164227:P411S	ENSP00000164227:P411S	P	+	1	0	BCL3	49954578	0.000000	0.05858	0.010000	0.14722	0.892000	0.51952	-0.095000	0.11077	-0.581000	0.05937	0.491000	0.48974	CCC		0.642	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		12	240	0	0	0	1	0	12	240				
SPG7	6687	broad.mit.edu	37	16	89603256	89603256	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89603256C>T	ENST00000268704.2	+	9	1339				SPG7_ENST00000341316.2_Missense_Mutation_p.P470S	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)						anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCTCACGGAGCCCACAGGGTC	0.577																																						ENST00000341316.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1408-1410)Ccc>Tcc		spastic paraplegia 7 (pure and complicated autosomal recessive)							171.0	164.0	166.0					16																	89603256		2198	4300	6498	SO:0001627	intron_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89603256C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1324+4212C>T	16.37:g.89603256C>T						SPG7_ENST00000268704.2_Intron	p.P470S	NM_199367.1	NP_955399.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	10	1415	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	350					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1408C>T	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	7.784	0.710122	0.15239	.	.	ENSG00000197912	ENST00000341316	D	0.93906	-3.31	0.989	0.989	0.19802	.	.	.	.	.	D	0.87470	0.6185	.	.	.	0.09310	N	1	B	0.19935	0.04	B	0.12837	0.008	T	0.79543	-0.1760	8	0.87932	D	0	.	5.3245	0.15898	0.0:1.0:0.0:0.0	.	470	Q9UQ90-2	.	S	470	ENSP00000341157:P470S	ENSP00000341157:P470S	P	+	1	0	SPG7	88130757	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.083000	0.14871	0.876000	0.35872	0.407000	0.27541	CCC		0.577	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		57	137	0	0	0	1	0	57	137				
RTCA	8634	broad.mit.edu	37	1	100731938	100731938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100731938G>A	ENST00000370128.4	+	1	176	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	RTCA_ENST00000370126.1_Missense_Mutation_p.G3R|RTCA_ENST00000260563.4_Missense_Mutation_p.G3R|RP11-305E17.6_ENST00000421185.1_RNA|RTCA_ENST00000498617.1_3'UTR	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	3					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										CCCCATGGCGGGGCCGCGGGT	0.662																																						ENST00000370128.4																			0											c.(7-9)Ggg>Agg		RNA 3'-terminal phosphate cyclase							35.0	45.0	42.0					1																	100731938		2202	4300	6502	SO:0001583	missense	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100731938G>A	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.7G>A	1.37:g.100731938G>A	ENSP00000359146:p.Gly3Arg					RTCA_ENST00000370126.1_Missense_Mutation_p.G3R|RTCA_ENST00000260563.4_Missense_Mutation_p.G3R|RTCA_ENST00000498617.1_3'UTR	p.G3R	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN			1	176	+			3					Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.7G>A	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984183	0.93044	.	.	ENSG00000137996	ENST00000370128;ENST00000260563;ENST00000370126	.	.	.	5.68	4.77	0.60923	RNA 3&apos (1);-terminal phosphate cyclase (1);	0.199986	0.43260	D	0.000597	T	0.17874	0.0429	N	0.08118	0	0.44162	D	0.996961	B;B	0.32893	0.389;0.03	B;B	0.30716	0.119;0.008	T	0.11717	-1.0576	9	0.46703	T	0.11	-3.3071	12.936	0.58313	0.0748:0.0:0.9252:0.0	.	3;3	O00442-2;O00442	.;RTC1_HUMAN	R	3	.	ENSP00000260563:G3R	G	+	1	0	RTCD1	100504526	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	2.730000	0.47335	1.398000	0.46701	0.563000	0.77884	GGG		0.662	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			5	71	0	0	0	1	0	5	71				
ABCC6	368	broad.mit.edu	37	16	16276326	16276326	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:16276326G>A	ENST00000205557.7	-	17	2219	c.2190C>T	c.(2188-2190)gcC>gcT	p.A730A	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	730	ABC transporter 1. {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)			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)	CTGGCTGCAGGGCACAGGCTT	0.577																																						ENST00000205557.7																			0				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						c.(2188-2190)gcC>gcT		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							87.0	81.0	83.0					16																	16276326		2197	4300	6497	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16276326G>A	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.2190C>T	16.37:g.16276326G>A						ABCC6_ENST00000574094.1_Intron	p.A730A	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	17	2219	-			730			ABC transporter 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.2190C>T	CCDS10568.1																																																																																				0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			4	55	0	0	0	1	0	4	55				
RPS6	6194	broad.mit.edu	37	9	19378818	19378818	+	Silent	SNP	C	C	T	rs369466550		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:19378818C>T	ENST00000380394.4	-	3	295	c.237G>A	c.(235-237)aaG>aaA	p.K79K	RPS6_ENST00000380384.1_Silent_p.K48K|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380381.3_3'UTR|RPS6_ENST00000315377.4_Silent_p.K48K|RPS6_ENST00000498815.1_5'Flank	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	79					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AGGAATGCCCCTTACTCAGTA	0.493																																						ENST00000380394.4																			0				endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(235-237)aaG>aaA		ribosomal protein S6		C		0,4406		0,0,2203	37.0	36.0	36.0		237	5.5	1.0	9		36	1,8599		0,1,4299	no	coding-synonymous	RPS6	NM_001010.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		79/250	19378818	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19378818C>T		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.237G>A	9.37:g.19378818C>T						RPS6_ENST00000380384.1_Silent_p.K48K|RPS6_ENST00000380381.3_3'UTR|RPS6_ENST00000315377.4_Silent_p.K48K	p.K79K	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	3	295	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	79					P08227|P10660|Q4VBY7|Q8N6Z7	Silent	SNP	ENST00000380394.4	37	c.237G>A	CCDS6492.1																																																																																				0.493	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	NM_001010		16	58	0	0	0	1	0	16	58				
HNRNPD	3184	broad.mit.edu	37	4	83277715	83277715	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83277715G>A	ENST00000313899.7	-	7	1252	c.975C>T	c.(973-975)aaC>aaT	p.N325N	HNRNPD_ENST00000543098.1_Silent_p.N273N|HNRNPD_ENST00000541060.1_Silent_p.N171N|HNRNPD_ENST00000352301.4_Silent_p.N306N|HNRNPD_ENST00000508119.1_Intron|HNRNPD_ENST00000353341.4_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	325	Gly-rich.|Tyr-rich.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						ATCCATAGTAGTTGTTGTAAC	0.343																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(973-975)aaC>aaT		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							144.0	132.0	136.0					4																	83277715		2203	4300	6503	SO:0001819	synonymous_variant	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83277715G>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.975C>T	4.37:g.83277715G>A						HNRNPD_ENST00000353341.4_Intron|HNRNPD_ENST00000541060.1_Silent_p.N171N|HNRNPD_ENST00000543098.1_Silent_p.N273N|HNRNPD_ENST00000352301.4_Silent_p.N306N|HNRNPD_ENST00000508119.1_Intron	p.N325N	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			7	1252	-			325			Gly-rich.|Tyr-rich.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Silent	SNP	ENST00000313899.7	37	c.975C>T	CCDS3592.1																																																																																				0.343	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		9	77	0	0	0	1	0	9	77				
RHOV	171177	broad.mit.edu	37	15	41165522	41165522	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41165522C>T	ENST00000220507.4	-	3	594	c.445G>A	c.(445-447)Gac>Aac	p.D149N	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TTGACATCGTCCCTCAGGTCG	0.647																																					Pancreas(13;103 483 3593 12123 44457)	ENST00000220507.4																			0				central_nervous_system(1)|large_intestine(1)	2						c.(445-447)Gac>Aac		ras homolog family member V							45.0	53.0	50.0					15																	41165522		2203	4298	6501	SO:0001583	missense	171177				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding	g.chr15:41165522C>T	AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"""ras homolog gene family, member V"""	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.445G>A	15.37:g.41165522C>T	ENSP00000220507:p.Asp149Asn						p.D149N	NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	594	-		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	149						Missense_Mutation	SNP	ENST00000220507.4	37	c.445G>A	CCDS10068.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463923	0.63513	.	.	ENSG00000104140	ENST00000220507	T	0.70164	-0.46	5.19	5.19	0.71726	Small GTP-binding protein domain (1);	0.184300	0.47093	D	0.000245	T	0.58906	0.2155	L	0.31578	0.945	0.44843	D	0.997854	B	0.13145	0.007	B	0.14023	0.01	T	0.56631	-0.7947	10	0.62326	D	0.03	-13.6784	18.7087	0.91648	0.0:1.0:0.0:0.0	.	149	Q96L33	RHOV_HUMAN	N	149	ENSP00000220507:D149N	ENSP00000220507:D149N	D	-	1	0	RHOV	38952814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.165000	0.58196	2.427000	0.82271	0.455000	0.32223	GAC		0.647	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1			8	80	0	0	0	1	0	8	80				
GXYLT1	283464	broad.mit.edu	37	12	42503475	42503475	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:42503475G>A	ENST00000398675.3	-	4	737	c.505C>T	c.(505-507)Cta>Tta	p.L169L	GXYLT1_ENST00000280876.6_Silent_p.L138L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	169					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AATGTTTGTAGAAATGACCAG	0.303																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(505-507)Cta>Tta		glucoside xylosyltransferase 1							39.0	37.0	37.0					12																	42503475		1801	4062	5863	SO:0001819	synonymous_variant	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42503475G>A	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.505C>T	12.37:g.42503475G>A						GXYLT1_ENST00000280876.6_Silent_p.L138L	p.L169L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			4	737	-			169					B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	ENST00000398675.3	37	c.505C>T	CCDS41772.1																																																																																				0.303	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		10	41	0	0	0	1	0	10	41				
TSPAN1	10103	broad.mit.edu	37	1	46650705	46650705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:46650705C>T	ENST00000372003.1	+	7	976	c.512C>T	c.(511-513)cCc>cTc	p.P171L	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	171					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				AGTGCCTTTCCCCCATTCTGT	0.502																																						ENST00000372003.1																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(511-513)cCc>cTc		tetraspanin 1							135.0	132.0	133.0					1																	46650705		2203	4300	6503	SO:0001583	missense	10103					integral to membrane|lysosomal membrane		g.chr1:46650705C>T	BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.512C>T	1.37:g.46650705C>T	ENSP00000361072:p.Pro171Leu					TSPAN1_ENST00000498443.1_3'UTR	p.P171L	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN			7	976	+	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)	171					D3DQ14|O60745|Q5VST0	Missense_Mutation	SNP	ENST00000372003.1	37	c.512C>T	CCDS530.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712329	0.68730	.	.	ENSG00000117472	ENST00000372003	D	0.88818	-2.43	5.43	5.43	0.79202	Tetraspanin, EC2 domain (1);	0.200830	0.53938	D	0.000052	D	0.95207	0.8446	M	0.89715	3.055	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95774	0.8811	10	0.87932	D	0	.	14.1212	0.65189	0.1503:0.8497:0.0:0.0	.	171	O60635	TSN1_HUMAN	L	171	ENSP00000361072:P171L	ENSP00000361072:P171L	P	+	2	0	TSPAN1	46423292	0.033000	0.19621	0.330000	0.25442	0.070000	0.16714	1.539000	0.36104	2.556000	0.86216	0.455000	0.32223	CCC		0.502	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1	NM_005727		5	95	0	0	0	1	0	5	95				
TTC1	7265	broad.mit.edu	37	5	159492060	159492060	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:159492060T>G	ENST00000231238.5	+	8	977	c.867T>G	c.(865-867)aaT>aaG	p.N289K	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Missense_Mutation_p.N289K	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	289					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AAAATCCAAATAATAACAGAT	0.418																																						ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(865-867)aaT>aaG		tetratricopeptide repeat domain 1							53.0	54.0	53.0					5																	159492060		2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159492060T>G	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.867T>G	5.37:g.159492060T>G	ENSP00000231238:p.Asn289Lys					TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Missense_Mutation_p.N289K	p.N289K	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	8	977	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	289					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.867T>G	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935115	0.73442	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.19250	2.16;2.16	5.33	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	L	0.43152	1.355	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	T	0.01549	-1.1327	10	0.62326	D	0.03	-0.0494	8.1961	0.31398	0.0:0.3816:0.0:0.6184	.	289	Q99614	TTC1_HUMAN	K	289	ENSP00000231238:N289K;ENSP00000429225:N289K	ENSP00000231238:N289K	N	+	3	2	TTC1	159424638	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.207000	0.17395	0.432000	0.26286	0.533000	0.62120	AAT		0.418	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		4	71	0	0	0	1	0	4	71				
MTMR1	8776	broad.mit.edu	37	X	149898633	149898633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:149898633G>A	ENST00000370390.3	+	6	741	c.584G>A	c.(583-585)gGg>gAg	p.G195E	MTMR1_ENST00000544228.1_Missense_Mutation_p.G195E|MTMR1_ENST00000542156.1_Missense_Mutation_p.G195E|MTMR1_ENST00000538506.1_Missense_Mutation_p.G82E|MTMR1_ENST00000445323.2_Missense_Mutation_p.G203E|MTMR1_ENST00000451863.2_Missense_Mutation_p.G195E|MTMR1_ENST00000541925.1_Missense_Mutation_p.G101E	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	195					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGTAAACTAGGGATATTTGAA	0.393																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(607-609)gGg>gAg		myotubularin related protein 1							130.0	116.0	121.0					X																	149898633		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149898633G>A	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.584G>A	X.37:g.149898633G>A	ENSP00000359417:p.Gly195Glu					MTMR1_ENST00000538506.1_Missense_Mutation_p.G82E|MTMR1_ENST00000451863.2_Missense_Mutation_p.G195E|MTMR1_ENST00000370390.3_Missense_Mutation_p.G195E|MTMR1_ENST00000544228.1_Missense_Mutation_p.G195E|MTMR1_ENST00000541925.1_Missense_Mutation_p.G101E|MTMR1_ENST00000542156.1_Missense_Mutation_p.G195E	p.G203E			Q13613	MTMR1_HUMAN			7	729	+	Acute lymphoblastic leukemia(192;6.56e-05)		195					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.608G>A	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	G	6.670	0.492234	0.12702	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.14	3.34	0.38264	.	0.222806	0.45361	D	0.000366	T	0.34687	0.0906	N	0.00041	-2.485	0.35721	D	0.817157	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.34576	-0.9823	10	0.13470	T	0.59	.	5.1723	0.15116	0.4535:0.0:0.5465:0.0	.	195;203;195	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	E	101;101;195;195;203;195;195;82	ENSP00000441879:G101E;ENSP00000431992:G101E;ENSP00000445281:G195E;ENSP00000359417:G195E;ENSP00000414178:G203E;ENSP00000440534:G195E;ENSP00000387446:G195E;ENSP00000443444:G82E	ENSP00000359417:G195E	G	+	2	0	MTMR1	149649291	1.000000	0.71417	0.700000	0.30305	0.744000	0.42396	5.946000	0.70234	1.076000	0.40961	0.600000	0.82982	GGG		0.393	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		25	59	0	0	0	1	0	25	59				
KLHDC8B	200942	broad.mit.edu	37	3	49213183	49213183	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49213183C>T	ENST00000332780.2	+	6	1223	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	C3orf84_ENST00000443990.1_5'Flank	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	338						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGGTGTGGCCCAGGGCCCCA	0.657																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(1012-1014)gcC>gcT		kelch domain containing 8B							43.0	43.0	43.0					3																	49213183		2203	4300	6503	SO:0001819	synonymous_variant	200942					cytoplasm		g.chr3:49213183C>T		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.1014C>T	3.37:g.49213183C>T							p.A338A	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	1223	+			338						Silent	SNP	ENST00000332780.2	37	c.1014C>T	CCDS2791.1																																																																																				0.657	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		4	54	0	0	0	1	0	4	54				
FAM65A	79567	broad.mit.edu	37	16	67576509	67576509	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67576509G>A	ENST00000379312.3	+	13	1953	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	FAM65A_ENST00000042381.4_Missense_Mutation_p.S607N|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.S627N|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.S621N|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.S627N	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	611	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ACTATGCCAAGCCCTACCCAT	0.547																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1879-1881)aGc>aAc		family with sequence similarity 65, member A							436.0	410.0	419.0					16																	67576509		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576509G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1832G>A	16.37:g.67576509G>A	ENSP00000368614:p.Ser611Asn					FAM65A_ENST00000042381.4_Missense_Mutation_p.S607N|FAM65A_ENST00000422602.2_Missense_Mutation_p.S627N|FAM65A_ENST00000379312.3_Missense_Mutation_p.S611N|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.S621N	p.S627N			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2100	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	611			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1880G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.992997	0.35131	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.15718	2.41;2.41;2.4	4.31	-0.208	0.13185	.	1.698280	0.02275	N	0.068873	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.0;0.0;0.0;0.003	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.32771	-0.9894	10	0.54805	T	0.06	0.0286	0.6932	0.00894	0.3098:0.1645:0.3568:0.1689	.	621;627;611;627	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	N	611;607;627;621	ENSP00000368614:S611N;ENSP00000042381:S607N;ENSP00000400099:S627N	ENSP00000042381:S607N	S	+	2	0	FAM65A	66134010	0.000000	0.05858	0.555000	0.28281	0.224000	0.24922	-0.062000	0.11674	0.413000	0.25759	0.436000	0.28706	AGC		0.547	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		23	230	0	0	0	1	0	23	230				
PCDHA2	56146	broad.mit.edu	37	5	140174664	140174664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140174664G>A	ENST00000526136.1	+	1	115	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A39T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A39T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	39	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			CCCCGAGGAGGCCAAACACGG	0.706																																						ENST00000526136.1																			0				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						c.(115-117)Gcc>Acc									37.0	44.0	42.0					5																	140174664		2203	4299	6502	SO:0001583	missense	0							g.chr5:140174664G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.115G>A	5.37:g.140174664G>A	ENSP00000431748:p.Ala39Thr					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A39T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A39T	p.A39T	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	115	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.115G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	12.35	1.911539	0.33721	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.25912	1.77;1.77;1.77	3.79	3.79	0.43588	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.39475	U	0.001345	T	0.13157	0.0319	N	0.21194	0.64	0.09310	N	0.999999	P;P;P	0.39862	0.61;0.692;0.61	B;B;B	0.33295	0.151;0.161;0.151	T	0.14587	-1.0467	10	0.27082	T	0.32	.	8.2615	0.31788	0.0:0.1427:0.5788:0.2784	.	39;39;39	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	39	ENSP00000430584:A39T;ENSP00000367372:A39T;ENSP00000431748:A39T	ENSP00000367372:A39T	A	+	1	0	PCDHA2	140154848	0.000000	0.05858	1.000000	0.80357	0.798000	0.45092	0.060000	0.14342	2.119000	0.64992	0.644000	0.83932	GCC		0.706	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		7	81	0	0	0	1	0	7	81				
HMGB1	3146	broad.mit.edu	37	13	31037402	31037402	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:31037402G>A	ENST00000405805.1	-	3	1178	c.238C>T	c.(238-240)Cct>Tct	p.P80S	HMGB1_ENST00000339872.4_Missense_Mutation_p.P80S|HMGB1_ENST00000326004.4_Missense_Mutation_p.P80S|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399494.1_Missense_Mutation_p.P80S|HMGB1_ENST00000399489.1_Missense_Mutation_p.P80S|HMGB1_ENST00000341423.5_Missense_Mutation_p.P80S			P09429	HMGB1_HUMAN	high mobility group box 1	80					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCTTTGGGAGGGATATAGGTT	0.413																																						ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(238-240)Cct>Tct		high mobility group box 1							78.0	89.0	86.0					13																	31037402		2203	4298	6501	SO:0001583	missense	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31037402G>A	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.238C>T	13.37:g.31037402G>A	ENSP00000384678:p.Pro80Ser					HMGB1_ENST00000341423.5_Missense_Mutation_p.P80S|HMGB1_ENST00000326004.4_Missense_Mutation_p.P80S|HMGB1_ENST00000399489.1_Missense_Mutation_p.P80S|HMGB1_ENST00000399494.1_Missense_Mutation_p.P80S|HMGB1_ENST00000339872.4_Missense_Mutation_p.P80S	p.P80S			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	3	1178	-		Lung SC(185;0.0257)	80					A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	c.238C>T	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158486	0.78114	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399489;ENST00000399494;ENST00000426225;ENST00000326004;ENST00000398908	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	5.44	5.44	0.79542	High mobility group, superfamily (2);High mobility group, HMG1/HMG2 (1);	0.000000	0.49916	D	0.000133	T	0.22322	0.0538	M	0.62154	1.92	0.80722	D	1	B;P;B;B	0.38617	0.055;0.64;0.095;0.135	B;B;B;B	0.34180	0.057;0.177;0.102;0.071	T	0.02813	-1.1107	10	0.56958	D	0.05	.	19.2732	0.94019	0.0:0.0:1.0:0.0	.	80;41;80;80	B7Z965;B3KQ05;P09429;Q5T7C4	.;.;HMGB1_HUMAN;.	S	80	ENSP00000384678:P80S;ENSP00000343040:P80S;ENSP00000345347:P80S;ENSP00000382412:P80S;ENSP00000382417:P80S;ENSP00000369904:P80S;ENSP00000410465:P80S	ENSP00000369904:P80S	P	-	1	0	HMGB1	29935402	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.710000	0.98732	2.547000	0.85894	0.643000	0.83706	CCT		0.413	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		31	56	0	0	0	1	0	31	56				
CPNE9	151835	broad.mit.edu	37	3	9754659	9754659	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9754659G>A	ENST00000383832.3	+	10	736	c.546G>A	c.(544-546)acG>acA	p.T182T	CPNE9_ENST00000383831.3_Splice_Site_p.T182T	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	182	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TCCCCTCCAGGTTCACCATCT	0.512																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.e10-1		copine family member IX							39.0	38.0	38.0					3																	9754659		1983	4192	6175	SO:0001630	splice_region_variant	151835							g.chr3:9754659G>A		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.546-1G>A	3.37:g.9754659G>A						CPNE9_ENST00000383831.3_Splice_Site_p.T182_splice	p.T182_splice	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			10	736	+	Medulloblastoma(99;0.227)		182			C2 2.		A1L430|A6NDX6|A8MSP8	Splice_Site	SNP	ENST00000383832.3	37	c.545_splice	CCDS2574.2																																																																																				0.512	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755	Silent	12	24	0	0	0	1	0	12	24				
CMAS	55907	broad.mit.edu	37	12	22211561	22211561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:22211561G>A	ENST00000229329.2	+	4	750	c.620G>A	c.(619-621)tGg>tAg	p.W207*		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	207					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CGACAAGACTGGGATGGAGAA	0.393																																						ENST00000229329.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(619-621)tGg>tAg		cytidine monophosphate N-acetylneuraminic acid synthetase							130.0	135.0	133.0					12																	22211561		2203	4300	6503	SO:0001587	stop_gained	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22211561G>A	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.620G>A	12.37:g.22211561G>A	ENSP00000229329:p.Trp207*						p.W207*	NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN			4	750	+			207					Q96AX5|Q9NQZ0	Nonsense_Mutation	SNP	ENST00000229329.2	37	c.620G>A	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	38	6.787315	0.97837	.	.	ENSG00000111726	ENST00000229329;ENST00000538498	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4149	19.2028	0.93717	0.0:0.0:1.0:0.0	.	.	.	.	X	207;48	.	ENSP00000229329:W207X	W	+	2	0	CMAS	22102828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.357000	0.90088	2.761000	0.94854	0.650000	0.86243	TGG		0.393	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		55	96	0	0	0	1	0	55	96				
AHNAK2	113146	broad.mit.edu	37	14	105420184	105420184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:105420184G>A	ENST00000333244.5	-	7	1723	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	535						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCCACCCGGCTCCTTCCAC	0.577																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1603-1605)gCc>gTc		AHNAK nucleoprotein 2							149.0	159.0	156.0					14																	105420184		2044	4190	6234	SO:0001583	missense	113146					nucleus		g.chr14:105420184G>A	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.1604C>T	14.37:g.105420184G>A	ENSP00000353114:p.Ala535Val					AHNAK2_ENST00000557457.1_Intron	p.A535V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1723	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	535					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1604C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	10.71	1.425750	0.25639	.	.	ENSG00000185567	ENST00000333244	T	0.02709	4.19	2.69	1.75	0.24633	.	.	.	.	.	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	P	0.46512	0.879	B	0.39562	0.303	T	0.49952	-0.8884	9	0.56958	D	0.05	.	8.7377	0.34539	0.0:0.0:0.5043:0.4957	.	535	Q8IVF2	AHNK2_HUMAN	V	535	ENSP00000353114:A535V	ENSP00000353114:A535V	A	-	2	0	AHNAK2	104491229	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.284000	0.18864	0.410000	0.25675	0.561000	0.74099	GCC		0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	52	0	0	0	1	0	5	52				
DACH2	117154	broad.mit.edu	37	X	85769336	85769336	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:85769336C>T	ENST00000373125.4	+	3	582	c.582C>T	c.(580-582)gcC>gcT	p.A194A	DACH2_ENST00000508860.1_Silent_p.A27A|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373131.1_Silent_p.A181A	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	194					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGAAAATGCCCGCCTTCTGA	0.463																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(541-543)gcC>gcT		dachshund homolog 2 (Drosophila)							54.0	46.0	49.0					X																	85769336		2203	4300	6503	SO:0001819	synonymous_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85769336C>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.582C>T	X.37:g.85769336C>T						DACH2_ENST00000373125.4_Silent_p.A194A|DACH2_ENST00000508860.1_Silent_p.A27A|DACH2_ENST00000510272.1_5'UTR	p.A181A	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			2	706	+			194					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	c.543C>T	CCDS14455.1																																																																																				0.463	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		7	19	0	0	0	1	0	7	19				
PRDM2	7799	broad.mit.edu	37	1	14105090	14105090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:14105090G>A	ENST00000235372.7	+	8	1656	c.800G>A	c.(799-801)gGg>gAg	p.G267E	PRDM2_ENST00000311066.5_Missense_Mutation_p.G267E|PRDM2_ENST00000343137.4_Missense_Mutation_p.G66E|PRDM2_ENST00000413440.1_Missense_Mutation_p.G66E|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AATGATTTgggggaagaggag	0.547																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(799-801)gGg>gAg		PR domain containing 2, with ZNF domain							44.0	46.0	45.0					1																	14105090		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105090G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.800G>A	1.37:g.14105090G>A	ENSP00000235372:p.Gly267Glu					PRDM2_ENST00000343137.4_Missense_Mutation_p.G66E|PRDM2_ENST00000311066.5_Missense_Mutation_p.G267E|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.G66E	p.G267E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1656	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	267					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.800G>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	0.213	-1.034701	0.02029	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137;ENST00000407521	T;T;T;T	0.01422	5.02;4.91;4.91;4.91	5.66	3.34	0.38264	.	0.662159	0.15925	N	0.237922	T	0.00496	0.0016	N	0.00268	-1.735	0.22639	N	0.998901	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45614	-0.9249	10	0.17832	T	0.49	.	6.3319	0.21274	0.7804:0.0:0.0787:0.1409	.	125;267;267	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	E	267;267;267;66;66;66	ENSP00000235372:G267E;ENSP00000312352:G267E;ENSP00000411103:G66E;ENSP00000341621:G66E	ENSP00000235372:G267E	G	+	2	0	PRDM2	13977677	1.000000	0.71417	0.998000	0.56505	0.847000	0.48162	2.667000	0.46808	0.419000	0.25927	-0.378000	0.06908	GGG		0.547	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		4	43	0	0	0	1	0	4	43				
GAA	2548	broad.mit.edu	37	17	78078570	78078570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:78078570G>A	ENST00000302262.3	+	2	404	c.185G>A	c.(184-186)aGa>aAa	p.R62K	GAA_ENST00000390015.3_Missense_Mutation_p.R62K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	62					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGAGCCAGCAGACCAGGGCCC	0.667																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(184-186)aGa>aAa		glucosidase, alpha; acid	Acarbose(DB00284)						19.0	20.0	20.0					17																	78078570		2196	4294	6490	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78078570G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.185G>A	17.37:g.78078570G>A	ENSP00000305692:p.Arg62Lys					GAA_ENST00000390015.3_Missense_Mutation_p.R62K	p.R62K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		2	404	+	all_neural(118;0.117)		62					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.185G>A	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	4.026	0.002271	0.07819	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.89050	-2.46;-2.46	4.79	2.71	0.32032	.	3.296230	0.00496	N	0.000158	T	0.76835	0.4043	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67381	-0.5685	10	0.05721	T	0.95	.	7.3612	0.26748	0.2239:0.0:0.7761:0.0	.	62	P10253	LYAG_HUMAN	K	62	ENSP00000305692:R62K;ENSP00000374665:R62K	ENSP00000305692:R62K	R	+	2	0	GAA	75693165	0.000000	0.05858	0.019000	0.16419	0.070000	0.16714	0.270000	0.18607	0.372000	0.24591	0.655000	0.94253	AGA		0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			5	11	0	0	0	1	0	5	11				
PKHD1L1	93035	broad.mit.edu	37	8	110394717	110394717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:110394717G>A	ENST00000378402.5	+	4	438	c.334G>A	c.(334-336)Gtt>Att	p.V112I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	112	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCCTACACTGTTAGAGTCAG	0.378										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(334-336)Gtt>Att		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							134.0	130.0	131.0					8																	110394717		1915	4141	6056	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110394717G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.334G>A	8.37:g.110394717G>A	ENSP00000367655:p.Val112Ile	HNSCC(38;0.096)					p.V112I	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		4	438	+			112			IPT/TIG 1.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.334G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664632	0.67700	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	5.94	5.07	0.68467	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.073777	0.53938	D	0.000059	T	0.70422	0.3222	L	0.41573	1.285	0.21445	N	0.999686	B	0.32862	0.387	B	0.39027	0.288	T	0.60224	-0.7305	10	0.25751	T	0.34	.	9.3813	0.38316	0.1605:0.0:0.8395:0.0	.	112	Q86WI1	PKHL1_HUMAN	I	112	ENSP00000367655:V112I	ENSP00000367655:V112I	V	+	1	0	PKHD1L1	110463893	0.973000	0.33851	0.941000	0.38009	0.926000	0.56050	2.107000	0.41844	1.527000	0.49086	0.650000	0.86243	GTT		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		13	43	0	0	0	1	0	13	43				
CCDC171	203238	broad.mit.edu	37	9	15971616	15971616	+	Nonsense_Mutation	SNP	C	C	T	rs75833586		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:15971616C>T	ENST00000380701.3	+	26	4091	c.3763C>T	c.(3763-3765)Cga>Tga	p.R1255*	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1255																	GATAGGATCACGAGACCATTC	0.363																																						ENST00000380701.3																			0											c.(3763-3765)Cga>Tga		coiled-coil domain containing 171							145.0	134.0	138.0					9																	15971616		2203	4300	6503	SO:0001587	stop_gained	203238							g.chr9:15971616C>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3763C>T	9.37:g.15971616C>T	ENSP00000370077:p.Arg1255*					CCDC171_ENST00000486641.2_Intron	p.R1255*	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			26	4091	+			1255					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	ENST00000380701.3	37	c.3763C>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	41	8.815613	0.98964	.	.	ENSG00000164989	ENST00000380701	.	.	.	4.95	4.04	0.47022	.	0.000000	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-4.9724	12.2296	0.54480	0.324:0.6759:0.0:0.0	.	.	.	.	X	1255	.	ENSP00000370077:R1255X	R	+	1	2	C9orf93	15961616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.812000	0.27211	1.279000	0.44446	0.655000	0.94253	CGA		0.363	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		9	225	0	0	0	1	0	9	225				
ATP5G1	516	broad.mit.edu	37	17	46972649	46972649	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:46972649G>A	ENST00000393366.2	+	4	352	c.249G>A	c.(247-249)ggG>ggA	p.G83G	ATP5G1_ENST00000355938.5_Silent_p.G83G|ATP5G1_ENST00000514808.1_Silent_p.G83G|ATP5G1_ENST00000513781.1_3'UTR|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000503641.1_Silent_p.G74G|ATP5G1_ENST00000506855.1_Silent_p.G57G	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	83					ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			liver(1)|lung(1)	2						CTGGTTCAGGGGCTGGCATTG	0.552																																						ENST00000393366.2																			0				liver(1)|lung(1)	2						c.(247-249)ggG>ggA		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)							111.0	107.0	108.0					17																	46972649		2203	4300	6503	SO:0001819	synonymous_variant	516				ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr17:46972649G>A	D13118	CCDS11539.1	17q21.32	2012-10-12	2010-06-11		ENSG00000159199	ENSG00000159199		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	841	protein-coding gene	gene with protein product		603192	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)"""	ATP5G		8328972	Standard	NM_005175		Approved		uc002ioh.3	P05496	OTTHUMG00000160520	ENST00000393366.2:c.249G>A	17.37:g.46972649G>A						ATP5G1_ENST00000503641.1_Silent_p.G74G|ATP5G1_ENST00000514808.1_Silent_p.G83G|ATP5G1_ENST00000506855.1_Silent_p.G57G|ATP5G1_ENST00000355938.5_Silent_p.G83G|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000513781.1_3'UTR	p.G83G	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN			4	352	+			83						Silent	SNP	ENST00000393366.2	37	c.249G>A	CCDS11539.1																																																																																				0.552	ATP5G1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360948.2	NM_005175		20	55	0	0	0	1	0	20	55				
TSPYL6	388951	broad.mit.edu	37	2	54482562	54482562	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:54482562C>T	ENST00000317802.7	-	1	847	c.727G>A	c.(727-729)Gac>Aac	p.D243N	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	243					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CGAATGATGTCATTCCTCTGC	0.552																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(727-729)Gac>Aac		TSPY-like 6							60.0	63.0	62.0					2																	54482562		2112	4253	6365	SO:0001583	missense	388951				nucleosome assembly	nucleus		g.chr2:54482562C>T	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.727G>A	2.37:g.54482562C>T	ENSP00000417919:p.Asp243Asn					ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron	p.D243N	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	847	-			243					Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	c.727G>A	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029061	0.35797	.	.	ENSG00000178021	ENST00000317802	T	0.25749	1.78	1.5	-2.93	0.05598	.	.	.	.	.	T	0.15912	0.0383	L	0.37697	1.125	0.09310	N	1	B	0.16396	0.017	B	0.24006	0.05	T	0.33137	-0.9880	9	0.25751	T	0.34	.	4.3671	0.11230	0.2485:0.424:0.3275:0.0	.	243	Q8N831	TSYL6_HUMAN	N	243	ENSP00000417919:D243N	ENSP00000417919:D243N	D	-	1	0	TSPYL6	54336066	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.005000	0.13129	-0.907000	0.03862	-0.518000	0.04402	GAC		0.552	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		7	90	0	0	0	1	0	7	90				
CTNNA1	1495	broad.mit.edu	37	5	138253513	138253513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:138253513G>A	ENST00000302763.7	+	11	1562	c.1472G>A	c.(1471-1473)tGg>tAg	p.W491*	CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.W491*|CTNNA1_ENST00000540387.1_Nonsense_Mutation_p.W121*|CTNNA1_ENST00000355078.5_Nonsense_Mutation_p.W388*	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	491					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGAACAATGGGAAAAACAA	0.418																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1471-1473)tGg>tAg		catenin (cadherin-associated protein), alpha 1, 102kDa							237.0	242.0	241.0					5																	138253513		2203	4300	6503	SO:0001587	stop_gained	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138253513G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1472G>A	5.37:g.138253513G>A	ENSP00000304669:p.Trp491*					CTNNA1_ENST00000355078.5_Nonsense_Mutation_p.W388*|CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.W491*|CTNNA1_ENST00000540387.1_Nonsense_Mutation_p.W121*	p.W491*	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		11	1562	+			491					Q12795|Q8N1C0	Nonsense_Mutation	SNP	ENST00000302763.7	37	c.1472G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213677	0.79352	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000523685;ENST00000540387	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8342	18.1412	0.89641	0.0:0.0:1.0:0.0	.	.	.	.	X	388;491;491;476;491;121;121	.	ENSP00000304669:W491X	W	+	2	0	CTNNA1	138281412	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.864000	0.99589	2.382000	0.81193	0.650000	0.86243	TGG		0.418	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		19	266	0	0	0	1	0	19	266				
GGA1	26088	broad.mit.edu	37	22	38028076	38028076	+	Silent	SNP	G	G	A	rs193147072	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:38028076G>A	ENST00000343632.4	+	15	1988	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	GGA1_ENST00000406772.1_Silent_p.L461L|GGA1_ENST00000381756.5_Silent_p.L551L|GGA1_ENST00000325180.8_Silent_p.L447L|GGA1_ENST00000337437.4_Silent_p.L501L	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	534	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGGACCCACTGCCAGGGCGCT	0.632																																						ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(1381-1383)ctG>ctA		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							94.0	74.0	81.0					22																	38028076		2203	4300	6503	SO:0001819	synonymous_variant	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38028076G>A	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1602G>A	22.37:g.38028076G>A						GGA1_ENST00000381756.5_Silent_p.L551L|GGA1_ENST00000343632.4_Silent_p.L534L|GGA1_ENST00000337437.4_Silent_p.L501L|GGA1_ENST00000325180.8_Silent_p.L447L	p.L461L	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			16	2035	+	Melanoma(58;0.0574)		534			Unstructured hinge.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Silent	SNP	ENST00000343632.4	37	c.1383G>A	CCDS13951.1																																																																																				0.632	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		12	32	0	0	0	1	0	12	32				
CDH23	64072	broad.mit.edu	37	10	73406435	73406435	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:73406435C>T	ENST00000461841.3	+	14	1898	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	CDH23_ENST00000224721.6_Intron|CDH23_ENST00000398809.4_Missense_Mutation_p.P504S|CDH23_ENST00000398842.3_Missense_Mutation_p.P504S|CDH23_ENST00000299366.7_Intron			Q9H251	CAD23_HUMAN	cadherin-related 23	0	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTGAGGCACCCAGAGGGATT	0.562																																						ENST00000398809.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1510-1512)Cca>Tca		cadherin-related 23							64.0	66.0	66.0					10																	73406435		2015	4168	6183	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73406435C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000461841.3:c.1645C>T	10.37:g.73406435C>T	ENSP00000473454:p.Pro549Ser					CDH23_ENST00000224721.6_Intron|CDH23_ENST00000461841.3_Missense_Mutation_p.P549S|CDH23_ENST00000299366.7_Intron|CDH23_ENST00000398842.3_Missense_Mutation_p.P504S	p.P504S	NM_052836.3	NP_443068.1	Q9H251	CAD23_HUMAN			14	1900	+			0			Cadherin 5.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000461841.3	37	c.1510C>T		.	.	.	.	.	.	.	.	.	.	C	8.659	0.900061	0.17686	.	.	ENSG00000107736	ENST00000398809;ENST00000398842;ENST00000416060	T;T	0.58652	0.32;0.37	3.17	2.22	0.28083	.	.	.	.	.	T	0.30166	0.0756	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.15954	-1.0419	8	.	.	.	.	3.7164	0.08439	0.2473:0.6239:0.0:0.1288	.	504	Q9H251-5	.	S	504;504;419	ENSP00000381789:P504S;ENSP00000381822:P504S	.	P	+	1	0	CDH23	73076441	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.361000	0.20267	0.862000	0.35528	0.561000	0.74099	CCA		0.562	CDH23-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051228.4	NM_052836		6	68	0	0	0	1	0	6	68				
CCDC142	84865	broad.mit.edu	37	2	74701745	74701745	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74701745G>A	ENST00000393965.3	-	9	2577	c.2181C>T	c.(2179-2181)gcC>gcT	p.A727A	CCDC142_ENST00000290418.4_Silent_p.A720A|MRPL53_ENST00000409710.1_5'Flank|MRPL53_ENST00000258105.7_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	727										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTTGCCTGAGGGCAAGCCAGG	0.597																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(2179-2181)gcC>gcT		coiled-coil domain containing 142							49.0	50.0	50.0					2																	74701745		2203	4300	6503	SO:0001819	synonymous_variant	84865							g.chr2:74701745G>A	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.2181C>T	2.37:g.74701745G>A						CCDC142_ENST00000290418.4_Silent_p.A720A	p.A727A	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			9	2577	-			727					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Silent	SNP	ENST00000393965.3	37	c.2181C>T																																																																																					0.597	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		4	37	0	0	0	1	0	4	37				
IGF2R	3482	broad.mit.edu	37	6	160505113	160505113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160505113C>T	ENST00000356956.1	+	40	6113	c.5965C>T	c.(5965-5967)Cca>Tca	p.P1989S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1989					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)			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)	TGTCTGCCCTCCAAAGAAGTT	0.507																																						ENST00000356956.1																			0				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						c.(5965-5967)Cca>Tca		insulin-like growth factor 2 receptor							137.0	128.0	131.0					6																	160505113		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160505113C>T	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.5965C>T	6.37:g.160505113C>T	ENSP00000349437:p.Pro1989Ser						p.P1989S	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	40	6113	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1989					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5965C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866490	0.91511	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.55	5.55	0.83447	Mannose-6-phosphate receptor, binding (1);	0.116297	0.64402	D	0.000009	T	0.13030	0.0316	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02391	-1.1166	10	0.41790	T	0.15	-17.5965	19.6982	0.96039	0.0:1.0:0.0:0.0	.	1989	P11717	MPRI_HUMAN	S	1989	ENSP00000349437:P1989S	ENSP00000349437:P1989S	P	+	1	0	IGF2R	160425103	1.000000	0.71417	0.241000	0.24154	0.933000	0.57130	5.475000	0.66787	2.894000	0.99253	0.655000	0.94253	CCA		0.507	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		35	41	0	0	0	1	0	35	41				
GAL3ST4	79690	broad.mit.edu	37	7	99758011	99758011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99758011G>A	ENST00000360039.4	-	4	1393	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.A334V|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.A272V|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	334					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTATGTCCAGCCTGGGCATT	0.597																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1000-1002)gCt>gTt		galactose-3-O-sulfotransferase 4							84.0	82.0	82.0					7																	99758011		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758011G>A	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1001C>T	7.37:g.99758011G>A	ENSP00000353142:p.Ala334Val					GAL3ST4_ENST00000426974.2_Missense_Mutation_p.A272V|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.A334V|GAL3ST4_ENST00000411994.1_3'UTR	p.A334V	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1393	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		334					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1001C>T	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347844	0.82022	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.15372	2.43;2.43;2.43	4.72	4.72	0.59763	.	0.693364	0.11267	U	0.581932	T	0.31040	0.0784	L	0.38531	1.155	0.43835	D	0.996413	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.963	T	0.00489	-1.1709	10	0.30078	T	0.28	-6.7413	13.0447	0.58920	0.0:0.0:1.0:0.0	.	272;334	B4DWL8;Q96RP7	.;G3ST4_HUMAN	V	334;334;272	ENSP00000400451:A334V;ENSP00000353142:A334V;ENSP00000398304:A272V	ENSP00000353142:A334V	A	-	2	0	GAL3ST4	99595947	0.005000	0.15991	1.000000	0.80357	0.688000	0.40055	0.578000	0.23773	2.466000	0.83321	0.511000	0.50034	GCT		0.597	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		9	142	0	0	0	1	0	9	142				
LRIG2	9860	broad.mit.edu	37	1	113650230	113650230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:113650230G>A	ENST00000361127.5	+	12	1526	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	443	LRRCT.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGAACACAAGCAGTTTGCTC	0.388																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(1327-1329)aGc>aAc		leucine-rich repeats and immunoglobulin-like domains 2							124.0	115.0	118.0					1																	113650230		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113650230G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1328G>A	1.37:g.113650230G>A	ENSP00000355396:p.Ser443Asn					LRIG2_ENST00000492207.1_3'UTR	p.S443N	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	12	1526	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	443			LRRCT.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1328G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	14.68	2.607355	0.46527	.	.	ENSG00000198799	ENST00000361127	T	0.13901	2.55	5.27	3.27	0.37495	Cysteine-rich flanking region, C-terminal (1);	0.120899	0.85682	N	0.000000	T	0.00552	0.0018	N	0.00027	-2.65	0.41420	D	0.98779	B	0.02656	0.0	B	0.12156	0.007	T	0.48790	-0.9004	10	0.02654	T	1	.	11.0759	0.48032	0.1607:0.0:0.8393:0.0	.	443	O94898	LRIG2_HUMAN	N	443	ENSP00000355396:S443N	ENSP00000355396:S443N	S	+	2	0	LRIG2	113451753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.399000	0.52586	0.631000	0.30412	0.650000	0.86243	AGC		0.388	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		37	63	0	0	0	1	0	37	63				
LTBP4	8425	broad.mit.edu	37	19	41122838	41122838	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:41122838C>T	ENST00000308370.7	+	23	3057	c.3057C>T	c.(3055-3057)gcC>gcT	p.A1019A	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.A952A|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000204005.9_Silent_p.A982A|LTBP4_ENST00000243562.9_Intron	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1019	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTGTGGAGCCCAGCGTTGTG	0.572																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3055-3057)gcC>gcT		latent transforming growth factor beta binding protein 4							56.0	57.0	57.0					19																	41122838		1969	4176	6145	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41122838C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3057C>T	19.37:g.41122838C>T						LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000396819.3_Silent_p.A952A|LTBP4_ENST00000243562.9_Intron|LTBP4_ENST00000204005.9_Silent_p.A982A	p.A1019A	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		23	3057	+			1019			Cys-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.3057C>T																																																																																					0.572	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		14	35	0	0	0	1	0	14	35				
MALAT1	378938	broad.mit.edu	37	11	65271750	65271750	+	lincRNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65271750G>A	ENST00000534336.1	+	0	6518					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGAGGGATGGGAGGAGGGGGT	0.428																																						ENST00000534336.1																			0																				34.0	35.0	35.0					11																	65271750		874	1988	2862			0							g.chr11:65271750G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271750G>A								NR_002819.2						0	6518	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.428	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		7	10	0	0	0	1	0	7	10				
FHDC1	85462	broad.mit.edu	37	4	153896436	153896436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:153896436C>T	ENST00000511601.1	+	12	2181	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S	FHDC1_ENST00000260008.3_Missense_Mutation_p.P665S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	665									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCTCTCTCGCCATTGGCTCT	0.627																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1993-1995)Cca>Tca		FH2 domain containing 1							34.0	37.0	36.0					4																	153896436		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153896436C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1993C>T	4.37:g.153896436C>T	ENSP00000427567:p.Pro665Ser					FHDC1_ENST00000260008.3_Missense_Mutation_p.P665S	p.P665S			Q9C0D6	FHDC1_HUMAN			12	2181	+	all_hematologic(180;0.093)		665						Missense_Mutation	SNP	ENST00000511601.1	37	c.1993C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.991088	0.35131	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.29655	1.56;1.56	5.29	1.38	0.22167	.	0.478039	0.19688	N	0.108354	T	0.22589	0.0545	L	0.54323	1.7	0.09310	N	0.999997	B	0.26195	0.144	B	0.18561	0.022	T	0.15896	-1.0421	10	0.45353	T	0.12	.	3.8782	0.09066	0.1325:0.582:0.1291:0.1565	.	665	Q9C0D6	FHDC1_HUMAN	S	665	ENSP00000427567:P665S;ENSP00000260008:P665S	ENSP00000260008:P665S	P	+	1	0	FHDC1	154115886	0.000000	0.05858	0.004000	0.12327	0.818000	0.46254	0.461000	0.21940	0.311000	0.23014	0.563000	0.77884	CCA		0.627	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		16	10	0	0	0	1	0	16	10				
MAP3K12	7786	broad.mit.edu	37	12	53877780	53877780	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:53877780G>A	ENST00000267079.2	-	9	1399	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	MAP3K12_ENST00000547488.1_Silent_p.L425L|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Silent_p.L425L	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	392	Leucine-zipper 1.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCAAAGTGCAGTTTTACTTCT	0.537																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1174-1176)Ctg>Ttg		mitogen-activated protein kinase kinase kinase 12							113.0	112.0	113.0					12																	53877780		2203	4300	6503	SO:0001819	synonymous_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53877780G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1174C>T	12.37:g.53877780G>A						MAP3K12_ENST00000547488.1_Silent_p.L425L|MAP3K12_ENST00000547035.1_Silent_p.L425L	p.L392L	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			9	1399	-			392			Leucine-zipper 1.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.1174C>T	CCDS8860.1																																																																																				0.537	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		7	61	0	0	0	1	0	7	61				
AURKA	6790	broad.mit.edu	37	20	54961588	54961588	+	Splice_Site	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:54961588G>T	ENST00000347343.2	-	3	311	c.44C>A	c.(43-45)gCt>gAt	p.A15D	AURKA_ENST00000395913.3_Splice_Site_p.A15D|AURKA_ENST00000395907.1_Splice_Site_p.A15D|AURKA_ENST00000395911.1_Splice_Site_p.A15D|AURKA_ENST00000395914.1_Splice_Site_p.A15D|AURKA_ENST00000395915.3_Splice_Site_p.A15D|AURKA_ENST00000395909.4_Splice_Site_p.A15D|AURKA_ENST00000371356.2_Splice_Site_p.A15D|AURKA_ENST00000312783.6_Splice_Site_p.A15D	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	15					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TGGAGCTGTAGCCTAGAATGG	0.393																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.e5-1		aurora kinase A							52.0	52.0	52.0					20																	54961588		2203	4300	6503	SO:0001630	splice_region_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54961588G>T	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.43-1C>A	20.37:g.54961588G>T						AURKA_ENST00000395915.3_Splice_Site_p.A15_splice|AURKA_ENST00000312783.6_Splice_Site_p.A15_splice|AURKA_ENST00000395911.1_Splice_Site_p.A15_splice|AURKA_ENST00000395914.1_Splice_Site_p.A15_splice|AURKA_ENST00000395913.3_Splice_Site_p.A15_splice|AURKA_ENST00000371356.2_Splice_Site_p.A15_splice|AURKA_ENST00000395907.1_Splice_Site_p.A15_splice|AURKA_ENST00000347343.2_Splice_Site_p.A15_splice	p.A15_splice	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		5	609	-			15					E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Splice_Site	SNP	ENST00000347343.2	37	c.42_splice	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272621	0.23221	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.49;-0.01;2.72;2.48;2.44;2.18	5.11	3.11	0.35812	.	1.389500	0.04523	N	0.385017	T	0.63022	0.2476	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B;B	0.28552	0.13;0.045;0.201;0.015;0.112;0.215;0.025	B;B;B;B;B;B;B	0.36666	0.046;0.23;0.034;0.015;0.015;0.031;0.008	T	0.53906	-0.8372	10	0.42905	T	0.14	-21.538	5.621	0.17457	0.1755:0.1633:0.6612:0.0	.	15;15;15;15;15;15;15	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	D	15	ENSP00000379245:A15D;ENSP00000379250:A15D;ENSP00000216911:A15D;ENSP00000379251:A15D;ENSP00000321591:A15D;ENSP00000360407:A15D;ENSP00000379249:A15D;ENSP00000379247:A15D;ENSP00000379243:A15D;ENSP00000393452:A15D;ENSP00000388073:A15D;ENSP00000405042:A15D;ENSP00000405170:A15D;ENSP00000401358:A15D	ENSP00000321591:A15D	A	-	2	0	AURKA	54394995	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.284000	0.18864	0.631000	0.30412	-0.222000	0.12452	GCT		0.393	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600	Missense_Mutation	35	52	1	0	1.36161e-19	1	1.3695e-19	35	52				
PRSS50	29122	broad.mit.edu	37	3	46784058	46784058	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:46784058G>A	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.P157S			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAAGCCAATGGCCCTCCAGAA	0.597																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(469-471)Cca>Tca		protease, serine, 45							80.0	89.0	86.0					3																	46784058		1894	4122	6016	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46784058G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+6056C>T	3.37:g.46784058G>A						PRSS50_ENST00000460241.1_Intron	p.P157S	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			4	468	-			189			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.469C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000926	0.74818	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.98633	-5.04	5.45	5.45	0.79879	.	0.000000	0.53938	D	0.000049	D	0.99074	0.9682	.	.	.	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99126	1.0851	9	0.87932	D	0	.	14.6523	0.68805	0.0:0.0:1.0:0.0	.	157	Q7RTY3-2	.	S	189;157	ENSP00000401932:P157S	ENSP00000330940:P189S	P	-	1	0	PRSS45	46759062	1.000000	0.71417	0.586000	0.28679	0.724000	0.41520	4.971000	0.63749	2.836000	0.97738	0.655000	0.94253	CCA		0.597	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			34	59	0	0	0	1	0	34	59				
KCNJ14	3770	broad.mit.edu	37	19	48967525	48967525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:48967525C>T	ENST00000391884.1	+	2	1278	c.802C>T	c.(802-804)Ctc>Ttc	p.L268F	CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.L268F			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	268					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TCGTATCTTCCTCGTGTCCCC	0.602																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(802-804)Ctc>Ttc		potassium inwardly-rectifying channel, subfamily J, member 14							133.0	95.0	108.0					19																	48967525		2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48967525C>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.802C>T	19.37:g.48967525C>T	ENSP00000375756:p.Leu268Phe					KCNJ14_ENST00000342291.2_Missense_Mutation_p.L268F	p.L268F			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	2	1278	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	268						Missense_Mutation	SNP	ENST00000391884.1	37	c.802C>T	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351917	0.61183	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94758	-3.51;-3.51	5.0	5.0	0.66597	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.64402	D	0.000001	D	0.96500	0.8858	M	0.66939	2.045	0.46028	D	0.998827	D	0.89917	1.0	D	0.87578	0.998	D	0.95171	0.8290	10	0.31617	T	0.26	.	16.6142	0.84902	0.0:1.0:0.0:0.0	.	268	Q9UNX9	IRK14_HUMAN	F	268	ENSP00000341479:L268F;ENSP00000375756:L268F	ENSP00000341479:L268F	L	+	1	0	KCNJ14	53659337	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	2.578000	0.46051	2.722000	0.93159	0.655000	0.94253	CTC		0.602	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		9	27	0	0	0	1	0	9	27				
LRP1	4035	broad.mit.edu	37	12	57594895	57594895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57594895G>A	ENST00000243077.3	+	65	10770	c.10304G>A	c.(10303-10305)gGg>gAg	p.G3435E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3435	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGCTGCAATGGGCAGGACAAC	0.607																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10303-10305)gGg>gAg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						232.0	196.0	208.0					12																	57594895		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57594895G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10304G>A	12.37:g.57594895G>A	ENSP00000243077:p.Gly3435Glu						p.G3435E	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	65	10770	+			3435			LDL-receptor class A 23.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10304G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239146	0.95240	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	D;T	0.96716	-4.1;0.14	5.38	5.38	0.77491	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.97967	0.9331	M	0.85373	2.75	0.80722	D	1	D	0.58620	0.983	P	0.60949	0.881	D	0.98057	1.0391	10	0.54805	T	0.06	.	18.1187	0.89564	0.0:0.0:1.0:0.0	.	3435	Q07954	LRP1_HUMAN	E	3435;2	ENSP00000243077:G3435E;ENSP00000451012:G2E	ENSP00000243077:G3435E	G	+	2	0	LRP1	55881162	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.638000	0.98445	2.821000	0.97095	0.555000	0.69702	GGG		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		16	91	0	0	0	1	0	16	91				
OR5AC2	81050	broad.mit.edu	37	3	97806477	97806477	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:97806477G>A	ENST00000358642.2	+	1	461	c.461G>A	c.(460-462)gGt>gAt	p.G154D		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	154					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TATGTAATTGGTTTCCTGCAT	0.378																																						ENST00000358642.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(460-462)gGt>gAt		olfactory receptor, family 5, subfamily AC, member 2							162.0	158.0	159.0					3																	97806477		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806477G>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.461G>A	3.37:g.97806477G>A	ENSP00000351466:p.Gly154Asp						p.G154D	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	461	+			154						Missense_Mutation	SNP	ENST00000358642.2	37	c.461G>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580901	0.86748	.	.	ENSG00000196578	ENST00000358642	T	0.40756	1.02	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37577	U	0.002040	T	0.74465	0.3720	H	0.96805	3.885	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72883	-0.4157	10	0.87932	D	0	-17.0944	12.083	0.53682	0.0:0.1736:0.8263:0.0	.	154	Q9NZP5	O5AC2_HUMAN	D	154	ENSP00000351466:G154D	ENSP00000351466:G154D	G	+	2	0	OR5AC2	99289167	0.553000	0.26513	0.011000	0.14972	0.785000	0.44390	4.653000	0.61462	2.441000	0.82636	0.590000	0.80494	GGT		0.378	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			76	135	0	0	0	1	0	76	135				
CAD	790	broad.mit.edu	37	2	27458140	27458140	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27458140G>A	ENST00000403525.1	+	23	3769	c.3625G>A	c.(3625-3627)Gcg>Acg	p.A1209T	CAD_ENST00000264705.4_Missense_Mutation_p.A1272T			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)			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)					CTCCCGCTTGGCGGGTGCTGA	0.617																																						ENST00000264705.4																			0				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						c.(3814-3816)Gcg>Acg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						69.0	64.0	66.0					2																	27458140		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27458140G>A	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.3625G>A	2.37:g.27458140G>A	ENSP00000384510:p.Ala1209Thr					CAD_ENST00000403525.1_Missense_Mutation_p.A1209T	p.A1272T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			24	3976	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1272			CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3814G>A		.	.	.	.	.	.	.	.	.	.	G	28.6	4.932861	0.92458	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95171	-3.63;-3.63	4.99	4.99	0.66335	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	L	0.49350	1.555	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.62560	0.904;0.879	D	0.95850	0.8874	10	0.56958	D	0.05	1.2963	17.1996	0.86902	0.0:0.0:1.0:0.0	.	1209;1272	F8VPD4;P27708	.;PYR1_HUMAN	T	1272;1209	ENSP00000264705:A1272T;ENSP00000384510:A1209T	ENSP00000264705:A1272T	A	+	1	0	CAD	27311644	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	8.938000	0.92943	2.474000	0.83562	0.650000	0.86243	GCG		0.617	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			13	63	0	0	0	1	0	13	63				
TNFRSF17	608	broad.mit.edu	37	16	12060052	12060052	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:12060052G>A	ENST00000053243.1	+	2	349	c.131G>A	c.(130-132)aGt>aAt	p.S44N	TNFRSF17_ENST00000396495.3_Intron|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	44					cell proliferation (GO:0008283)|immune system process (GO:0002376)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			large_intestine(3)|lung(3)	6						TTTCATAAAGGTGTGACCAAT	0.323			T	IL2	intestinal T-cell lymphoma																																	ENST00000053243.1				Dom	yes		16	16p13.1	608	T	"""tumor necrosis factor receptor superfamily, member 17"""			L	IL2		intestinal T-cell lymphoma		0				large_intestine(3)|lung(3)	6						c.e2-1		tumor necrosis factor receptor superfamily, member 17							108.0	101.0	103.0					16																	12060052		2197	4300	6497	SO:0001630	splice_region_variant	608				cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane		g.chr16:12060052G>A	Z29574	CCDS10552.1	16p13.1	2013-05-22			ENSG00000048462	ENSG00000048462		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11913	protein-coding gene	gene with protein product		109545		BCMA		1396583, 8165126	Standard	NM_001192		Approved	BCM, CD269, TNFRSF13A	uc002dbv.3	Q02223	OTTHUMG00000129826	ENST00000053243.1:c.131-1G>A	16.37:g.12060052G>A						TNFRSF17_ENST00000396495.3_Intron|RP11-166B2.1_ENST00000532936.1_Intron	p.S44_splice	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN			2	349	+			44					Q2TQ40	Splice_Site	SNP	ENST00000053243.1	37	c.130_splice	CCDS10552.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875724	0.33162	.	.	ENSG00000048462	ENST00000053243;ENST00000435355	T	0.10960	2.82	4.47	4.47	0.54385	BCMA, TALL-1 binding (1);	0.461126	0.20642	N	0.088393	T	0.11879	0.0289	N	0.11560	0.145	0.80722	D	1	B;D	0.58620	0.108;0.983	B;P	0.57502	0.044;0.822	T	0.32798	-0.9893	9	.	.	.	.	12.6412	0.56711	0.0:0.0:1.0:0.0	.	41;44	E7EQ20;Q02223	.;TNR17_HUMAN	N	44;41	ENSP00000053243:S44N	.	S	+	2	0	TNFRSF17	11967553	0.998000	0.40836	0.689000	0.30133	0.080000	0.17528	2.171000	0.42453	2.001000	0.58596	0.655000	0.94253	AGT		0.323	TNFRSF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252062.1		Missense_Mutation	29	63	0	0	0	1	0	29	63				
VCAN	1462	broad.mit.edu	37	5	82816160	82816160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:82816160G>A	ENST00000265077.3	+	7	2600	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	VCAN_ENST00000512590.2_Missense_Mutation_p.E631K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E679K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	679	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCTACAAACAGAAATGACACA	0.328																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2035-2037)Gaa>Aaa		versican							50.0	52.0	51.0					5																	82816160		2190	4292	6482	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816160G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2035G>A	5.37:g.82816160G>A	ENSP00000265077:p.Glu679Lys					VCAN_ENST00000512590.2_Missense_Mutation_p.E631K|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E679K	p.E679K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2600	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	679			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2035G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208500	0.39003	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19532	2.14;2.14;2.14	5.81	3.01	0.34805	.	0.309128	0.27891	N	0.017424	T	0.19208	0.0461	L	0.53249	1.67	0.24428	N	0.994589	B;B	0.19583	0.037;0.022	B;B	0.19946	0.027;0.018	T	0.18745	-1.0327	10	0.52906	T	0.07	.	7.1694	0.25710	0.1508:0.14:0.7092:0.0	.	679;679	P13611-3;P13611	.;CSPG2_HUMAN	K	679;679;631	ENSP00000265077:E679K;ENSP00000342768:E679K;ENSP00000425959:E631K	ENSP00000265077:E679K	E	+	1	0	VCAN	82851916	0.022000	0.18835	0.706000	0.30403	0.986000	0.74619	0.772000	0.26647	0.344000	0.23847	0.655000	0.94253	GAA		0.328	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	44	0	0	0	1	0	4	44				
GCN1L1	10985	broad.mit.edu	37	12	120582214	120582214	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120582214G>A	ENST00000300648.6	-	42	5403	c.5391C>T	c.(5389-5391)gcC>gcT	p.A1797A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1797					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCGCGCAGGGCGGTGTCAC	0.612																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5389-5391)gcC>gcT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							42.0	47.0	45.0					12																	120582214		2034	4196	6230	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582214G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5391C>T	12.37:g.120582214G>A							p.A1797A	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			42	5403	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1797					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5391C>T	CCDS41847.1																																																																																				0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			14	29	0	0	0	1	0	14	29				
FBXO3	26273	broad.mit.edu	37	11	33790554	33790554	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:33790554C>T	ENST00000265651.3	-	3	219	c.201G>A	c.(199-201)gaG>gaA	p.E67E	FBXO3_ENST00000448981.2_Silent_p.E67E|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000530401.1_Silent_p.E62E|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000534136.1_Silent_p.E67E	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	67					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCTGTGTTTTCTCTTCCCTAA	0.303																																						ENST00000530401.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(184-186)gaG>gaA		F-box protein 3							139.0	138.0	139.0					11																	33790554		2202	4297	6499	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33790554C>T	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.201G>A	11.37:g.33790554C>T						FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000448981.2_Silent_p.E67E|FBXO3_ENST00000534136.1_Silent_p.E67E|FBXO3_ENST00000265651.3_Silent_p.E67E|FBXO3_ENST00000533103.1_5'UTR	p.E62E			Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	3	206	-		Lung NSC(402;0.0804)	67					B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.186G>A	CCDS7887.1																																																																																				0.303	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		57	188	0	0	0	1	0	57	188				
OR4C6	219432	broad.mit.edu	37	11	55432837	55432837	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:55432837C>T	ENST00000314259.3	+	1	224	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCTTCTTGTCCCTTTTGGATG	0.448																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(193-195)tcC>tcT		olfactory receptor, family 4, subfamily C, member 6							290.0	251.0	264.0					11																	55432837		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432837C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.195C>T	11.37:g.55432837C>T							p.S65S	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	224	+			65					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.195C>T	CCDS31506.1																																																																																				0.448	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		41	59	0	0	0	1	0	41	59				
PHF19	26147	broad.mit.edu	37	9	123624963	123624963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:123624963G>A	ENST00000373896.3	-	11	1285	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	PHF19_ENST00000419155.1_Missense_Mutation_p.P136S|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	345					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)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCGGGTTGGGTGGGACGCGG	0.597																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1033-1035)Ccc>Tcc		PHD finger protein 19							189.0	195.0	193.0					9																	123624963		2203	4300	6503	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123624963G>A	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.1033C>T	9.37:g.123624963G>A	ENSP00000363003:p.Pro345Ser					PHF19_ENST00000419155.1_Missense_Mutation_p.P136S|PHF19_ENST00000487555.1_5'UTR	p.P345S	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN			11	1285	-			345					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.1033C>T	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366700	0.82463	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155;ENST00000453868	T;T;T	0.64438	0.97;-0.1;0.32	4.43	4.43	0.53597	.	0.130671	0.51477	D	0.000086	T	0.77745	0.4176	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79436	-0.1804	10	0.51188	T	0.08	-20.6683	14.5898	0.68356	0.0:0.0:1.0:0.0	.	345	Q5T6S3	PHF19_HUMAN	S	345;345;136;136	ENSP00000363003:P345S;ENSP00000407433:P136S;ENSP00000395938:P136S	ENSP00000363003:P345S	P	-	1	0	PHF19	122664784	1.000000	0.71417	0.689000	0.30133	0.850000	0.48378	8.788000	0.91834	2.288000	0.76882	0.462000	0.41574	CCC		0.597	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		51	100	0	0	0	1	0	51	100				
PIK3C2A	5286	broad.mit.edu	37	11	17190726	17190726	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:17190726C>T	ENST00000265970.7	-	1	562	c.563G>A	c.(562-564)aGt>aAt	p.S188N	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	188					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TCCCGGAAGACTTAAATATAT	0.408																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(562-564)aGt>aAt		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						72.0	75.0	74.0					11																	17190726		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190726C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.563G>A	11.37:g.17190726C>T	ENSP00000265970:p.Ser188Asn					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	p.S188N	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	562	-			188					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.563G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601472	0.46423	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.63744	-0.06	5.53	5.53	0.82687	.	0.540078	0.22806	N	0.055419	T	0.50309	0.1608	N	0.24115	0.695	0.80722	D	1	B;B	0.30361	0.277;0.026	B;B	0.27380	0.079;0.022	T	0.43718	-0.9374	10	0.24483	T	0.36	-1.7758	19.4395	0.94813	0.0:1.0:0.0:0.0	.	188;188	F5H5W9;O00443	.;P3C2A_HUMAN	N	188	ENSP00000265970:S188N	ENSP00000265970:S188N	S	-	2	0	PIK3C2A	17147302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.062000	0.57492	2.591000	0.87537	0.591000	0.81541	AGT		0.408	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		8	38	0	0	0	1	0	8	38				
POU2F1	5451	broad.mit.edu	37	1	167365569	167365569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:167365569G>A	ENST00000541643.3	+	11	1127	c.965G>A	c.(964-966)aGc>aAc	p.S322N	POU2F1_ENST00000429375.2_Missense_Mutation_p.S282N|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.S345N|POU2F1_ENST00000420254.3_Missense_Mutation_p.S322N|POU2F1_ENST00000367862.5_Missense_Mutation_p.S334N			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	322	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AATGACTTCAGCCAAACTACC	0.443																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1000-1002)aGc>aAc		POU class 2 homeobox 1							214.0	193.0	200.0					1																	167365569		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167365569G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.965G>A	1.37:g.167365569G>A	ENSP00000441285:p.Ser322Asn					POU2F1_ENST00000429375.2_Missense_Mutation_p.S282N|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.S345N|POU2F1_ENST00000420254.3_Missense_Mutation_p.S322N|POU2F1_ENST00000541643.3_Missense_Mutation_p.S322N	p.S334N	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			10	1236	+			322			POU-specific.		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1001G>A		.	.	.	.	.	.	.	.	.	.	G	26.9	4.783647	0.90282	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	6.17	6.17	0.99709	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	M	0.89785	3.06	0.80722	D	1	B;D;B;B;B	0.58970	0.075;0.984;0.061;0.061;0.075	B;D;B;B;B	0.80764	0.063;0.994;0.015;0.037;0.026	D	0.94578	0.7777	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	282;322;334;320;322	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	N	345;282;320;322;322;334;230	ENSP00000356840:S345N;ENSP00000401217:S282N;ENSP00000356839:S320N;ENSP00000414660:S322N;ENSP00000441285:S322N;ENSP00000356836:S334N;ENSP00000415993:S230N	ENSP00000356836:S334N	S	+	2	0	POU2F1	165632193	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.020000	0.88740	2.941000	0.99782	0.655000	0.94253	AGC		0.443	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		48	91	0	0	0	1	0	48	91				
BAZ2A	11176	broad.mit.edu	37	12	56994236	56994236	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56994236G>A	ENST00000551812.1	-	24	4840	c.4647C>T	c.(4645-4647)gaC>gaT	p.D1549D	BAZ2A_ENST00000179765.5_Silent_p.D1517D|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Silent_p.D1519D|BAZ2A_ENST00000549884.1_Silent_p.D1547D	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1549					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTAGGCCAAGTCTTCACGGG	0.517																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(4549-4551)gaC>gaT		bromodomain adjacent to zinc finger domain, 2A							68.0	68.0	68.0					12																	56994236		1946	4134	6080	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56994236G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4647C>T	12.37:g.56994236G>A						BAZ2A_ENST00000551812.1_Silent_p.D1549D|BAZ2A_ENST00000549884.1_Silent_p.D1547D|BAZ2A_ENST00000379441.3_Silent_p.D1519D	p.D1517D			Q9UIF9	BAZ2A_HUMAN			25	4750	-			1549					B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.4551C>T	CCDS44924.1																																																																																				0.517	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		13	51	0	0	0	1	0	13	51				
RASGEF1A	221002	broad.mit.edu	37	10	43695127	43695127	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:43695127G>A	ENST00000395809.1	-	7	3352	c.846C>T	c.(844-846)tgC>tgT	p.C282C	RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000374459.1_Silent_p.C290C|RASGEF1A_ENST00000395810.1_Silent_p.C282C			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	282	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)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CACTTACCCGGCACACCTCAG	0.577																																						ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(844-846)tgC>tgT		RasGEF domain family, member 1A							88.0	64.0	72.0					10																	43695127		2203	4300	6503	SO:0001819	synonymous_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43695127G>A	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.846C>T	10.37:g.43695127G>A						RASGEF1A_ENST00000395810.1_Silent_p.C282C|RASGEF1A_ENST00000374459.1_Silent_p.C290C	p.C282C			Q8N9B8	RGF1A_HUMAN			7	3352	-			282			Ras-GEF.		Q8TBF1	Silent	SNP	ENST00000395809.1	37	c.846C>T	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	G	9.781	1.175409	0.21704	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.1	4.2	0.49525	.	.	.	.	.	T	0.61553	0.2356	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58896	-0.7555	4	.	.	.	.	10.283	0.43552	0.2113:0.0:0.7887:0.0	.	.	.	.	S	184	.	.	P	-	1	0	RASGEF1A	43015133	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.901000	0.39838	1.137000	0.42214	0.655000	0.94253	CCG		0.577	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		10	24	0	0	0	1	0	10	24				
YLPM1	56252	broad.mit.edu	37	14	75265937	75265937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75265937G>A	ENST00000325680.7	+	5	4061	c.3937G>A	c.(3937-3939)Ggg>Agg	p.G1313R	YLPM1_ENST00000238571.3_Missense_Mutation_p.G1118R|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1118					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGAGATTATGGGAGACCACT	0.453																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3937-3939)Ggg>Agg		YLP motif containing 1							135.0	138.0	137.0					14																	75265937		1934	4139	6073	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265937G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3937G>A	14.37:g.75265937G>A	ENSP00000324463:p.Gly1313Arg					YLPM1_ENST00000238571.3_Missense_Mutation_p.G1118R|YLPM1_ENST00000552421.1_Intron	p.G1313R	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4061	+			1118					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.3937G>A	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837698	0.32513	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.88	4.81	0.61882	.	0.700919	0.13678	N	0.370374	T	0.29491	0.0735	N	0.22421	0.69	0.37159	D	0.902523	P	0.39624	0.681	B	0.39419	0.299	T	0.08889	-1.0700	9	0.11794	T	0.64	-10.3241	5.8144	0.18484	0.1131:0.0:0.5571:0.3298	.	1313	P49750-4	.	R	1313;1118;1026	.	ENSP00000238571:G1118R	G	+	1	0	YLPM1	74335690	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.972000	0.40540	2.791000	0.96007	0.442000	0.29010	GGG		0.453	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		9	29	0	0	0	1	0	9	29				
OFD1	8481	broad.mit.edu	37	X	13769421	13769421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:13769421G>A	ENST00000340096.6	+	10	1316	c.989G>A	c.(988-990)aGa>aAa	p.R330K	OFD1_ENST00000380567.1_Missense_Mutation_p.R190K|OFD1_ENST00000380550.3_Intron|OFD1_ENST00000398395.3_Missense_Mutation_p.R330K|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	330					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCACTTAGGAGACAGGAGCAG	0.323																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(568-570)aGa>aAa		oral-facial-digital syndrome 1							62.0	59.0	60.0					X																	13769421		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13769421G>A	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.989G>A	X.37:g.13769421G>A	ENSP00000344314:p.Arg330Lys					OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Intron|OFD1_ENST00000398395.3_Missense_Mutation_p.R330K|OFD1_ENST00000340096.6_Missense_Mutation_p.R330K	p.R190K			O75665	OFD1_HUMAN			11	1441	+			330					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.569G>A	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	9.456	1.091855	0.20471	.	.	ENSG00000046651	ENST00000398395;ENST00000340096;ENST00000380567	D;D;D	0.96041	-3.54;-3.89;-1.87	5.63	1.78	0.24846	.	0.174502	0.64402	N	0.000018	D	0.88362	0.6416	L	0.28054	0.825	0.09310	N	1	B;B	0.26081	0.037;0.141	B;B	0.22753	0.024;0.041	T	0.73777	-0.3876	10	0.10377	T	0.69	-12.4679	8.6509	0.34033	0.3941:0.0:0.6059:0.0	.	190;330	A6NF31;O75665	.;OFD1_HUMAN	K	330;330;190	ENSP00000381432:R330K;ENSP00000344314:R330K;ENSP00000369941:R190K	ENSP00000344314:R330K	R	+	2	0	OFD1	13679342	0.994000	0.37717	0.174000	0.22961	0.875000	0.50365	2.164000	0.42387	-0.073000	0.12842	0.513000	0.50165	AGA		0.323	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		36	61	0	0	0	1	0	36	61				
ETV5	2119	broad.mit.edu	37	3	185798962	185798962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:185798962C>T	ENST00000306376.5	-	6	481	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	ETV5_ENST00000537818.1_Missense_Mutation_p.V121M|ETV5_ENST00000434744.1_Missense_Mutation_p.V79M|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	79					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)			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)			GCATGAAGCACCACTGAAATC	0.507			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(235-237)Gtg>Atg		ets variant 5							76.0	74.0	75.0					3																	185798962		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185798962C>T	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.235G>A	3.37:g.185798962C>T	ENSP00000306894:p.Val79Met					ETV5_ENST00000434744.1_Missense_Mutation_p.V79M|ETV5_ENST00000537818.1_Missense_Mutation_p.V121M	p.V79M	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		6	481	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		79					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.235G>A	CCDS33906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.07|12.07	1.827019|1.827019	0.32329|0.32329	.|.	.|.	ENSG00000244405|ENSG00000244405	ENST00000422039|ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301	.|T;T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04;2.04	5.22|5.22	5.22|5.22	0.72569|0.72569	.|PEA3-type ETS-domain transcription factor, N-terminal (1);	.|0.180172	.|0.48286	.|D	.|0.000199	T|T	0.12518|0.12518	0.0304|0.0304	N|N	0.05383|0.05383	-0.06|-0.06	0.47214|0.47214	D|D	0.999354|0.999354	.|B;B	.|0.26445	.|0.149;0.149	.|B;B	.|0.25140	.|0.058;0.058	T|T	0.15065|0.15065	-1.0450|-1.0450	6|10	0.30078|0.31617	T|T	0.28|0.26	.|.	15.6934|15.6934	0.77473|0.77473	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|79;121	.|P41161;B7Z7D7	.|ETV5_HUMAN;.	D|M	116|79;79;121;79;79;79	.|ENSP00000306894:V79M;ENSP00000413755:V79M;ENSP00000441737:V121M;ENSP00000389707:V79M;ENSP00000412171:V79M;ENSP00000405157:V79M	ENSP00000388737:G116D|ENSP00000306894:V79M	G|V	-|-	2|1	0|0	ETV5|ETV5	187281656|187281656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.731000|3.731000	0.55013|0.55013	2.441000|2.441000	0.82636|0.82636	0.563000|0.563000	0.77884|0.77884	GGT|GTG		0.507	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		4	93	0	0	0	1	0	4	93				
PDZRN4	29951	broad.mit.edu	37	12	41966553	41966553	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:41966553G>A	ENST00000402685.2	+	10	1980	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E398K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E400K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	658							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAATCAAGGGGAGCAAGAGGG	0.443																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1192-1194)Gag>Aag		PDZ domain containing ring finger 4							122.0	109.0	113.0					12																	41966553		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966553G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1972G>A	12.37:g.41966553G>A	ENSP00000384197:p.Glu658Lys					PDZRN4_ENST00000402685.2_Missense_Mutation_p.E658K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E400K	p.E398K			Q6ZMN7	PZRN4_HUMAN			10	1580	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	658					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1192G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042227	0.35989	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73047	-0.71;3.76;3.76	4.39	4.39	0.52855	.	0.832087	0.10528	N	0.664122	T	0.66829	0.2829	L	0.53249	1.67	0.54753	D	0.999987	B;B;B	0.17852	0.024;0.002;0.0	B;B;B	0.15052	0.012;0.012;0.002	T	0.60895	-0.7172	10	0.40728	T	0.16	-9.1109	12.3974	0.55393	0.0841:0.0:0.9159:0.0	.	658;398;400	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	658;400;398	ENSP00000384197:E658K;ENSP00000439990:E400K;ENSP00000298919:E398K	ENSP00000298919:E398K	E	+	1	0	PDZRN4	40252820	1.000000	0.71417	0.076000	0.20297	0.725000	0.41563	6.672000	0.74477	2.395000	0.81488	0.650000	0.86243	GAG		0.443	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		4	84	0	0	0	1	0	4	84				
HMGCS2	3158	broad.mit.edu	37	1	120307089	120307089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:120307089C>T	ENST00000369406.3	-	2	314	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	HMGCS2_ENST00000544913.2_Missense_Mutation_p.G89S|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	89					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CGGGTCTGGCCCAAGCCCACT	0.552																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(265-267)Ggc>Agc		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							148.0	138.0	141.0					1																	120307089		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120307089C>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.265G>A	1.37:g.120307089C>T	ENSP00000358414:p.Gly89Ser					HMGCS2_ENST00000544913.2_Missense_Mutation_p.G89S|HMGCS2_ENST00000476640.1_5'UTR	p.G89S	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	2	314	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	89					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.265G>A	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829270	0.90955	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.93189	-3.18;-2.83	5.22	5.22	0.72569	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000006	D	0.98444	0.9482	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.99793	1.1032	10	0.87932	D	0	-12.1833	17.7234	0.88358	0.0:1.0:0.0:0.0	.	89;89	B7Z8R3;P54868	.;HMCS2_HUMAN	S	89	ENSP00000358414:G89S;ENSP00000439495:G89S	ENSP00000358414:G89S	G	-	1	0	HMGCS2	120108612	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.334000	0.79224	2.595000	0.87683	0.585000	0.79938	GGC		0.552	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		4	103	0	0	0	1	0	4	103				
G6PC2	57818	broad.mit.edu	37	2	169764166	169764166	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:169764166C>T	ENST00000375363.3	+	5	737	c.645C>T	c.(643-645)ttC>ttT	p.F215F	G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	215					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TCTTTCTCTTCCTGTTTGCAG	0.532																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(643-645)ttC>ttT		glucose-6-phosphatase, catalytic, 2							220.0	174.0	190.0					2																	169764166		2203	4300	6503	SO:0001819	synonymous_variant	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764166C>T	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.645C>T	2.37:g.169764166C>T						G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	p.F215F	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			5	737	+			215					E9PAX2|Q6AHZ0	Silent	SNP	ENST00000375363.3	37	c.645C>T	CCDS2230.1																																																																																				0.532	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		5	97	0	0	0	1	0	5	97				
TRAF5	7188	broad.mit.edu	37	1	211545736	211545736	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:211545736G>A	ENST00000261464.5	+	11	1420	c.1366G>A	c.(1366-1368)Ggg>Agg	p.G456R	TRAF5_ENST00000336184.2_Missense_Mutation_p.G456R|TRAF5_ENST00000367004.3_Missense_Mutation_p.G456R|TRAF5_ENST00000427925.2_Missense_Mutation_p.G350R	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	456	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G456R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GTCAGGGAGGGGGTCACACCT	0.567																																						ENST00000261464.5																			1	Substitution - Missense(1)	p.G456R(1)	endometrium(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1366-1368)Ggg>Agg		TNF receptor-associated factor 5							104.0	98.0	100.0					1																	211545736		2203	4300	6503	SO:0001583	missense	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211545736G>A	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1366G>A	1.37:g.211545736G>A	ENSP00000261464:p.Gly456Arg					TRAF5_ENST00000367004.3_Missense_Mutation_p.G456R|TRAF5_ENST00000427925.2_Missense_Mutation_p.G350R|TRAF5_ENST00000336184.2_Missense_Mutation_p.G456R	p.G456R	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	11	1420	+			456			MATH.		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.1366G>A	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434804	0.83885	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.44	4.53	0.55603	TRAF-type (1);TRAF-like (1);MATH (3);	0.052789	0.85682	D	0.000000	T	0.68357	0.2992	M	0.86502	2.82	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75013	-0.3467	10	0.66056	D	0.02	-19.5991	14.2492	0.66009	0.0719:0.0:0.9281:0.0	.	350;467;456	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	R	456;350;456;456	ENSP00000336825:G456R;ENSP00000389891:G350R;ENSP00000261464:G456R;ENSP00000355971:G456R	ENSP00000261464:G456R	G	+	1	0	TRAF5	209612359	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.625000	0.83145	1.425000	0.47237	0.650000	0.86243	GGG		0.567	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		7	45	0	0	0	1	0	7	45				
DCHS1	8642	broad.mit.edu	37	11	6646862	6646862	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:6646862G>A	ENST00000299441.3	-	18	7239	c.6828C>T	c.(6826-6828)acC>acT	p.T2276T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2276	Cadherin 21. {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)			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)		GTTGGGGGATGGTGGGGCGAT	0.592																																						ENST00000299441.3																			0				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						c.(6826-6828)acC>acT		dachsous cadherin-related 1							64.0	67.0	66.0					11																	6646862		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6646862G>A	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.6828C>T	11.37:g.6646862G>A							p.T2276T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	18	7239	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2276			Cadherin 21.		O15098	Silent	SNP	ENST00000299441.3	37	c.6828C>T	CCDS7771.1																																																																																				0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	47	0	0	0	1	0	3	47				
GRB10	2887	broad.mit.edu	37	7	50694543	50694543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:50694543C>T	ENST00000401949.1	-	8	1106	c.637G>A	c.(637-639)Gag>Aag	p.E213K	GRB10_ENST00000407526.1_Missense_Mutation_p.E155K|GRB10_ENST00000335866.3_Missense_Mutation_p.E155K|GRB10_ENST00000398812.2_Missense_Mutation_p.E213K|GRB10_ENST00000406641.1_Missense_Mutation_p.E155K|GRB10_ENST00000402497.1_Missense_Mutation_p.E155K|GRB10_ENST00000402578.1_Missense_Mutation_p.E155K|GRB10_ENST00000357271.5_Missense_Mutation_p.E213K|GRB10_ENST00000398810.2_Missense_Mutation_p.E155K|GRB10_ENST00000403097.1_Missense_Mutation_p.E207K|GRB10_ENST00000439599.1_Missense_Mutation_p.E207K			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	213	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)			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)					GGGTGGTGCTCCACTAGTGTC	0.498									Russell-Silver syndrome																													ENST00000403097.1																			0				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						c.(619-621)Gag>Aag		growth factor receptor-bound protein 10							224.0	227.0	226.0					7																	50694543		2055	4192	6247	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50694543C>T		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.637G>A	7.37:g.50694543C>T	ENSP00000385770:p.Glu213Lys					GRB10_ENST00000401949.1_Missense_Mutation_p.E213K|GRB10_ENST00000402578.1_Missense_Mutation_p.E155K|GRB10_ENST00000357271.5_Missense_Mutation_p.E213K|GRB10_ENST00000398812.2_Missense_Mutation_p.E213K|GRB10_ENST00000402497.1_Missense_Mutation_p.E155K|GRB10_ENST00000439599.1_Missense_Mutation_p.E207K|GRB10_ENST00000335866.3_Missense_Mutation_p.E155K|GRB10_ENST00000407526.1_Missense_Mutation_p.E155K|GRB10_ENST00000398810.2_Missense_Mutation_p.E155K|GRB10_ENST00000406641.1_Missense_Mutation_p.E155K	p.E207K			Q13322	GRB10_HUMAN			7	1399	-	Glioma(55;0.08)|all_neural(89;0.245)		213			Ras-associating.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.619G>A	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	36	5.713642	0.96830	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497;ENST00000428711	D;D;D;D;D;D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.63	5.63	0.86233	Ras-association (3);	0.000000	0.85682	D	0.000000	D	0.91801	0.7406	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92741	0.6208	10	0.87932	D	0	-41.4921	19.6959	0.96026	0.0:1.0:0.0:0.0	.	207;213;213	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	K	213;207;155;155;155;207;155;213;155;213;155;29	ENSP00000381793:E213K;ENSP00000406716:E207K;ENSP00000338543:E155K;ENSP00000381790:E155K;ENSP00000385189:E155K;ENSP00000385544:E207K;ENSP00000385366:E155K;ENSP00000349818:E213K;ENSP00000385046:E155K;ENSP00000385770:E213K;ENSP00000385748:E155K;ENSP00000410920:E29K	ENSP00000338543:E155K	E	-	1	0	GRB10	50662037	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.659000	0.90383	0.650000	0.86243	GAG		0.498	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			4	176	0	0	0	1	0	4	176				
CCDC115	84317	broad.mit.edu	37	2	131099635	131099635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:131099635C>T	ENST00000259229.2	-	1	287	c.64G>A	c.(64-66)Gag>Aag	p.E22K	CCDC115_ENST00000409127.1_Intron|IMP4_ENST00000409935.1_5'Flank|CCDC115_ENST00000437688.2_Intron|IMP4_ENST00000259239.3_5'Flank	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	22						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TCCAGCTCCTCCAGGTCCCCA	0.647																																						ENST00000259229.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7						c.(64-66)Gag>Aag		coiled-coil domain containing 115							71.0	75.0	74.0					2																	131099635		2203	4300	6503	SO:0001583	missense	84317					endosome|lysosome		g.chr2:131099635C>T	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.64G>A	2.37:g.131099635C>T	ENSP00000259229:p.Glu22Lys					CCDC115_ENST00000409127.1_Intron|CCDC115_ENST00000437688.2_Intron	p.E22K	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN			1	287	-	Colorectal(110;0.1)		22					B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	c.64G>A	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.994038	0.54041	.	.	ENSG00000136710	ENST00000259229	D	0.94828	-3.53	4.54	3.65	0.41850	.	0.000000	0.85682	D	0.000000	D	0.95831	0.8643	M	0.80746	2.51	0.80722	D	1	D;P	0.60160	0.987;0.869	P;B	0.56612	0.802;0.375	D	0.95472	0.8552	10	0.66056	D	0.02	.	10.6811	0.45815	0.0:0.8061:0.1939:0.0	.	22;22	F8WCZ3;Q96NT0	.;CC115_HUMAN	K	22	ENSP00000259229:E22K	ENSP00000259229:E22K	E	-	1	0	CCDC115	130816105	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	4.297000	0.59061	1.252000	0.44001	-0.175000	0.13238	GAG		0.647	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		17	35	0	0	0	1	0	17	35				
GAA	2548	broad.mit.edu	37	17	78081598	78081598	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:78081598G>A	ENST00000302262.3	+	5	1077		c.e5-1		GAA_ENST00000390015.3_Splice_Site	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid						cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GCATGTCCCAGCCCGGTGCGA	0.682																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.e5-1		glucosidase, alpha; acid	Acarbose(DB00284)						32.0	33.0	33.0					17																	78081598		2199	4297	6496	SO:0001630	splice_region_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78081598G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.859-1G>A	17.37:g.78081598G>A						GAA_ENST00000390015.3_Splice_Site		NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		5	1077	+	all_neural(118;0.117)							Q09GN4|Q14351|Q16302|Q8IWE7	Splice_Site	SNP	ENST00000302262.3	37		CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756702	0.69648	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7114	0.85386	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAA	75696193	1.000000	0.71417	0.928000	0.36995	0.101000	0.19017	8.862000	0.92283	2.557000	0.86248	0.655000	0.94253	.		0.682	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1		Intron	4	13	0	0	0	1	0	4	13				
STAB1	23166	broad.mit.edu	37	3	52538808	52538808	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52538808C>T	ENST00000321725.6	+	12	1369	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	431	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)			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)		GGCAGCACATCCTGGAGGACA	0.617																																						ENST00000321725.6																			0				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						c.(1291-1293)atC>atT		stabilin 1							91.0	88.0	89.0					3																	52538808		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52538808C>T	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.1293C>T	3.37:g.52538808C>T							p.I431I	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		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)	12	1369	+			431			FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.1293C>T	CCDS33768.1																																																																																				0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	35	0	0	0	1	0	4	35				
HDAC9	9734	broad.mit.edu	37	7	18875210	18875210	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:18875210G>A	ENST00000432645.2	+	19	2577		c.e19+1		HDAC9_ENST00000401921.1_Splice_Site|HDAC9_ENST00000406451.4_Splice_Site|HDAC9_ENST00000441542.2_Splice_Site	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			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)	CCCAAATGAGGTTCGGTTTAT	0.428																																						ENST00000406451.3																			0				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						c.e20+1		histone deacetylase 9	Valproic Acid(DB00313)						71.0	72.0	71.0					7																	18875210		1952	4180	6132	SO:0001630	splice_region_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18875210G>A	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.2577+1G>A	7.37:g.18875210G>A						HDAC9_ENST00000432645.2_Splice_Site|HDAC9_ENST00000441542.2_Splice_Site|HDAC9_ENST00000401921.1_Splice_Site		NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			20	2727	+	all_lung(11;0.187)							A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Splice_Site	SNP	ENST00000432645.2	37		CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423817	0.62733	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HDAC9	18841735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	.		0.428	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		Intron	13	42	0	0	0	1	0	13	42				
GAS2L3	283431	broad.mit.edu	37	12	101018484	101018484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:101018484C>T	ENST00000539410.1	+	9	2287	c.1901C>T	c.(1900-1902)aCt>aTt	p.T634I	GAS2L3_ENST00000537247.1_Missense_Mutation_p.T530I|GAS2L3_ENST00000547754.1_Missense_Mutation_p.T634I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T634I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	634					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCAGCACAGACTGTCGCTAAG	0.527																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1588-1590)aCt>aTt		growth arrest-specific 2 like 3							86.0	78.0	81.0					12																	101018484		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101018484C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1901C>T	12.37:g.101018484C>T	ENSP00000439672:p.Thr634Ile					GAS2L3_ENST00000547754.1_Missense_Mutation_p.T634I|GAS2L3_ENST00000539410.1_Missense_Mutation_p.T634I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T634I	p.T530I			Q86XJ1	GA2L3_HUMAN			10	2543	+			634					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1589C>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983599	0.35036	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.71	0.723	0.18231	.	1.377070	0.04377	N	0.360111	T	0.28134	0.0694	L	0.56769	1.78	0.22185	N	0.999304	B	0.27625	0.183	B	0.27500	0.08	T	0.33471	-0.9867	10	0.62326	D	0.03	-4.7732	7.2077	0.25917	0.0:0.5839:0.2267:0.1894	.	634	Q86XJ1	GA2L3_HUMAN	I	634;634;530;634	ENSP00000266754:T634I;ENSP00000448955:T634I;ENSP00000442406:T530I;ENSP00000439672:T634I	ENSP00000266754:T634I	T	+	2	0	GAS2L3	99542615	0.001000	0.12720	0.039000	0.18376	0.010000	0.07245	0.471000	0.22100	-0.129000	0.11620	-0.229000	0.12294	ACT		0.527	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		7	53	0	0	0	1	0	7	53				
TGM6	343641	broad.mit.edu	37	20	2411625	2411625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2411625C>T	ENST00000202625.2	+	12	1980	c.1919C>T	c.(1918-1920)gCg>gTg	p.A640V	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	640					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AAGGACTGTGCGCTGATGGTG	0.592																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1918-1920)gCg>gTg		transglutaminase 6	L-Glutamine(DB00130)						140.0	117.0	125.0					20																	2411625		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411625C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1919C>T	20.37:g.2411625C>T	ENSP00000202625:p.Ala640Val					TGM6_ENST00000381423.1_Intron	p.A640V	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			12	1980	+			640					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1919C>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	3.788	-0.044241	0.07452	.	.	ENSG00000166948	ENST00000202625	T	0.67523	-0.27	5.24	0.296	0.15757	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.891913	0.09823	N	0.751145	T	0.19046	0.0457	N	0.00128	-2.045	0.58432	D	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.49204	-0.8964	10	0.02654	T	1	-3.4706	3.5223	0.07747	0.1624:0.2832:0.0:0.5544	.	640	O95932	TGM3L_HUMAN	V	640	ENSP00000202625:A640V	ENSP00000202625:A640V	A	+	2	0	TGM6	2359625	0.001000	0.12720	0.965000	0.40720	0.962000	0.63368	-0.612000	0.05616	0.103000	0.17682	-0.302000	0.09304	GCG		0.592	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		26	61	0	0	0	1	0	26	61				
ZNF831	128611	broad.mit.edu	37	20	57768026	57768026	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57768026G>A	ENST00000371030.2	+	1	1952	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	651							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGGGAATGGGCAGTGGGGCA	0.567																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1951-1953)gGc>gAc		zinc finger protein 831							58.0	68.0	65.0					20																	57768026		2036	4178	6214	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768026G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1952G>A	20.37:g.57768026G>A	ENSP00000360069:p.Gly651Asp						p.G651D	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1952	+	all_lung(29;0.0085)		651					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1952G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523046	0.44866	.	.	ENSG00000124203	ENST00000371030	T	0.05199	3.48	5.09	-5.47	0.02600	.	0.520830	0.17398	N	0.175665	T	0.03095	0.0091	L	0.34521	1.04	0.09310	N	1	B	0.19583	0.037	B	0.12837	0.008	T	0.36138	-0.9760	10	0.29301	T	0.29	-2.477	1.2164	0.01915	0.2272:0.3129:0.265:0.1949	.	651	Q5JPB2	ZN831_HUMAN	D	651	ENSP00000360069:G651D	ENSP00000360069:G651D	G	+	2	0	ZNF831	57201421	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.233000	0.17911	-0.876000	0.04017	-0.136000	0.14681	GGC		0.567	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		5	59	0	0	0	1	0	5	59				
PPIP5K2	23262	broad.mit.edu	37	5	102474087	102474087	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:102474087G>A	ENST00000358359.3	+	5	910		c.e5-1		PPIP5K2_ENST00000414217.1_Splice_Site|PPIP5K2_ENST00000513500.1_Splice_Site|PPIP5K2_ENST00000321521.9_Splice_Site	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2						inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTTTCTTCAGGAGAGAAGTA	0.308																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e5-1		diphosphoinositol pentakisphosphate kinase 2							76.0	75.0	75.0					5																	102474087		2203	4298	6501	SO:0001630	splice_region_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102474087G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.402-1G>A	5.37:g.102474087G>A						PPIP5K2_ENST00000513500.1_Splice_Site|PPIP5K2_ENST00000414217.1_Splice_Site|PPIP5K2_ENST00000358359.3_Splice_Site				O43314	VIP2_HUMAN			5	974	+								A1NI53|A6NGS8|Q8TB50	Splice_Site	SNP	ENST00000358359.3	37			.	.	.	.	.	.	.	.	.	.	G	18.76	3.693594	0.68386	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3579	0.83243	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPIP5K2	102501986	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	9.199000	0.95003	2.365000	0.80145	0.585000	0.79938	.		0.308	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	Intron	7	27	0	0	0	1	0	7	27				
DNAH9	1770	broad.mit.edu	37	17	11783417	11783417	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:11783417G>A	ENST00000262442.4	+	54	10569	c.10501G>A	c.(10501-10503)Gcc>Acc	p.A3501T	DNAH9_ENST00000608377.1_5'Flank|DNAH9_ENST00000454412.2_Missense_Mutation_p.A3501T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3501	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATAGAGCAGGCCCTGGAAGC	0.478																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(10501-10503)Gcc>Acc		dynein, axonemal, heavy chain 9							119.0	110.0	113.0					17																	11783417		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11783417G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10501G>A	17.37:g.11783417G>A	ENSP00000262442:p.Ala3501Thr					DNAH9_ENST00000454412.2_Missense_Mutation_p.A3501T	p.A3501T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	54	10569	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3501			AAA 5 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.10501G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361650	0.82353	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.31510	1.49;1.49	4.53	4.53	0.55603	.	0.135578	0.48767	D	0.000170	T	0.65821	0.2728	H	0.94734	3.575	0.80722	D	1	D	0.58620	0.983	D	0.66351	0.943	T	0.77667	-0.2502	10	0.72032	D	0.01	.	17.047	0.86507	0.0:0.0:1.0:0.0	.	3501	Q9NYC9	DYH9_HUMAN	T	3501;3501;2083	ENSP00000262442:A3501T;ENSP00000414874:A3501T	ENSP00000262442:A3501T	A	+	1	0	DNAH9	11724142	1.000000	0.71417	0.931000	0.37212	0.445000	0.32107	9.601000	0.98297	2.341000	0.79615	0.655000	0.94253	GCC		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	96	0	0	0	1	0	4	96				
ABCD3	5825	broad.mit.edu	37	1	94956759	94956759	+	Missense_Mutation	SNP	G	G	A	rs369427758		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:94956759G>A	ENST00000370214.4	+	16	1366	c.1342G>A	c.(1342-1344)Gca>Aca	p.A448T	ABCD3_ENST00000536817.1_Missense_Mutation_p.A375T|ABCD3_ENST00000394233.2_Missense_Mutation_p.A338T|ABCD3_ENST00000454898.2_Missense_Mutation_p.A472T|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	448	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)		TGTTCCTTTAGCAACGCCAAA	0.264																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1342-1344)Gca>Aca		ATP-binding cassette, sub-family D (ALD), member 3		G	THR/ALA	0,4404		0,0,2202	52.0	53.0	52.0		1342	6.1	1.0	1		52	1,8595	1.2+/-3.3	0,1,4297	no	missense	ABCD3	NM_002858.3	58	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	448/660	94956759	1,12999	2202	4298	6500	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94956759G>A	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.1342G>A	1.37:g.94956759G>A	ENSP00000359233:p.Ala448Thr					ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.A338T|ABCD3_ENST00000536817.1_Missense_Mutation_p.A375T|ABCD3_ENST00000454898.2_Missense_Mutation_p.A472T	p.A448T	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	16	1366	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	448			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1342G>A	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287788	0.80803	0.0	1.16E-4	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99843	-7.11;-7.11;-7.11;-7.11	6.08	6.08	0.98989	ABC transporter-like (1);	0.194149	0.53938	D	0.000056	D	0.98723	0.9571	N	0.12182	0.205	0.58432	D	0.999998	B;P;B	0.45902	0.228;0.868;0.081	B;B;B	0.41510	0.071;0.359;0.044	D	0.98860	1.0762	10	0.72032	D	0.01	-17.681	20.6721	0.99693	0.0:0.0:1.0:0.0	.	472;338;448	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	T	338;472;375;448	ENSP00000377780:A338T;ENSP00000403357:A472T;ENSP00000440692:A375T;ENSP00000359233:A448T	ENSP00000359233:A448T	A	+	1	0	ABCD3	94729347	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.320000	0.79064	2.894000	0.99253	0.591000	0.81541	GCA		0.264	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		6	71	0	0	0	1	0	6	71				
ABL2	27	broad.mit.edu	37	1	179095709	179095709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:179095709G>A	ENST00000502732.1	-	4	693	c.490C>T	c.(490-492)Cca>Tca	p.P164S	ABL2_ENST00000408940.3_Missense_Mutation_p.P128S|ABL2_ENST00000344730.3_Missense_Mutation_p.P149S|ABL2_ENST00000507173.1_Missense_Mutation_p.P143S|ABL2_ENST00000367623.4_Missense_Mutation_p.P143S|ABL2_ENST00000512653.1_Missense_Mutation_p.P149S|ABL2_ENST00000504405.1_Missense_Mutation_p.P128S|ABL2_ENST00000511413.1_Missense_Mutation_p.P164S|ABL2_ENST00000392043.3_Missense_Mutation_p.P143S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	164	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTGTTCACTGGGGTGATGTAG	0.517			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(490-492)Cca>Tca		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						141.0	118.0	126.0					1																	179095709		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179095709G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.490C>T	1.37:g.179095709G>A	ENSP00000427562:p.Pro164Ser					ABL2_ENST00000512653.1_Missense_Mutation_p.P149S|ABL2_ENST00000392043.3_Missense_Mutation_p.P143S|ABL2_ENST00000507173.1_Missense_Mutation_p.P143S|ABL2_ENST00000504405.1_Missense_Mutation_p.P128S|ABL2_ENST00000511413.1_Missense_Mutation_p.P164S|ABL2_ENST00000344730.3_Missense_Mutation_p.P149S|ABL2_ENST00000408940.3_Missense_Mutation_p.P128S|ABL2_ENST00000367623.4_Missense_Mutation_p.P143S	p.P164S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			4	693	-			164			SH3.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.490C>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938421	0.92526	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.46	5.46	0.80206	Src homology-3 domain (2);SH2 motif (1);	0.000000	0.50627	D	0.000120	T	0.50820	0.1638	M	0.63428	1.95	0.80722	D	1	D;P;P;P;D;D;D;D;D;D;D	0.89917	1.0;0.857;0.857;0.857;0.967;0.999;0.999;0.968;0.994;0.998;0.999	D;P;P;P;P;D;D;P;P;D;D	0.85130	0.997;0.645;0.645;0.645;0.788;0.961;0.974;0.709;0.849;0.942;0.974	T	0.51212	-0.8734	10	0.87932	D	0	.	18.2738	0.90077	0.0:0.0:1.0:0.0	.	143;143;164;128;128;143;128;164;149;128;149	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	S	164;128;149;149;128;143;143;164;143	ENSP00000427562:P164S;ENSP00000386152:P128S;ENSP00000339209:P149S;ENSP00000423578:P149S;ENSP00000426831:P128S;ENSP00000356595:P143S;ENSP00000423413:P143S;ENSP00000424697:P164S;ENSP00000375897:P143S	ENSP00000339209:P149S	P	-	1	0	ABL2	177362332	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.771000	0.98977	2.543000	0.85770	0.585000	0.79938	CCA		0.517	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		32	66	0	0	0	1	0	32	66				
TMEM132D	121256	broad.mit.edu	37	12	129566310	129566310	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:129566310G>A	ENST00000422113.2	-	7	2243	c.1917C>T	c.(1915-1917)acC>acT	p.T639T	TMEM132D_ENST00000389441.4_Silent_p.T177T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	639					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.T639T(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)		TTACCTGAATGGTGGTCATCC	0.493																																						ENST00000422113.2																			1	Substitution - coding silent(1)	p.T639T(1)	lung(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						c.(1915-1917)acC>acT		transmembrane protein 132D							37.0	37.0	37.0					12																	129566310		2203	4299	6502	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129566310G>A	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.1917C>T	12.37:g.129566310G>A						TMEM132D_ENST00000389441.4_Silent_p.T177T	p.T639T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2243	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	639					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1917C>T	CCDS9266.1																																																																																				0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		9	44	0	0	0	1	0	9	44				
PLXNA1	5361	broad.mit.edu	37	3	126723817	126723817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:126723817C>T	ENST00000393409.2	+	5	1709	c.1709C>T	c.(1708-1710)cCc>cTc	p.P570L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P547L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	570					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGTGCAGCCCCGCAATGTG	0.657																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1639-1641)cCc>cTc		plexin A1							46.0	44.0	45.0					3																	126723817		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126723817C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1709C>T	3.37:g.126723817C>T	ENSP00000377061:p.Pro570Leu					PLXNA1_ENST00000393409.2_Missense_Mutation_p.P570L	p.P547L			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	5	1709	+			570						Missense_Mutation	SNP	ENST00000393409.2	37	c.1640C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313002	0.60414	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.15256	2.44;2.44	3.4	3.4	0.38934	.	0.243433	0.27554	N	0.018845	T	0.41351	0.1155	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.38243	-0.9670	10	0.29301	T	0.29	.	14.9768	0.71281	0.0:1.0:0.0:0.0	.	570	Q9UIW2	PLXA1_HUMAN	L	570;547	ENSP00000377061:P570L;ENSP00000251772:P547L	ENSP00000251772:P547L	P	+	2	0	PLXNA1	128206507	1.000000	0.71417	0.917000	0.36280	0.089000	0.18198	5.926000	0.70070	1.927000	0.55829	0.313000	0.20887	CCC		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	36	0	0	0	1	0	6	36				
RGMB	285704	broad.mit.edu	37	5	98129041	98129041	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:98129041G>A	ENST00000513185.1	+	3	1334	c.898G>A	c.(898-900)Gcc>Acc	p.A300T	RGMB_ENST00000308234.7_Missense_Mutation_p.A341T			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	300					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGAAGACCTGGCCATGTCCTA	0.612																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(1021-1023)Gcc>Acc		repulsive guidance molecule family member b							43.0	45.0	44.0					5																	98129041		2157	4238	6395	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98129041G>A	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.898G>A	5.37:g.98129041G>A	ENSP00000423256:p.Ala300Thr					RGMB_ENST00000513185.1_Missense_Mutation_p.A300T	p.A341T	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1423	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	300					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.1021G>A		.	.	.	.	.	.	.	.	.	.	G	19.02	3.745983	0.69418	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.85629	-2.01;-2.01	5.69	5.69	0.88448	Repulsive guidance molecule, C-terminal (1);	0.093824	0.64402	D	0.000001	D	0.89860	0.6837	L	0.61387	1.9	0.58432	D	0.999999	D	0.59767	0.986	P	0.56648	0.803	D	0.89096	0.3486	10	0.46703	T	0.11	-16.901	19.7778	0.96402	0.0:0.0:1.0:0.0	.	300	Q6NW40	RGMB_HUMAN	T	341;300	ENSP00000308219:A341T;ENSP00000423256:A300T	ENSP00000308219:A341T	A	+	1	0	RGMB	98156941	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	6.791000	0.75120	2.680000	0.91292	0.591000	0.81541	GCC		0.612	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		4	18	0	0	0	1	0	4	18				
TPTE	7179	broad.mit.edu	37	21	10969103	10969103	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:10969103C>T	ENST00000361285.4	-	7	474	c.145G>A	c.(145-147)Gca>Aca	p.A49T	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	49					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCGGGCTGCTCCTTTAAAT	0.463																																						ENST00000361285.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(145-147)Gca>Aca		transmembrane phosphatase with tensin homology							207.0	200.0	202.0					21																	10969103		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969103C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.145G>A	21.37:g.10969103C>T	ENSP00000355208:p.Ala49Thr					TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron	p.A49T	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	7	474	-			49					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.145G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	C	7.009	0.556363	0.13436	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.95205	-3.64	0.558	0.558	0.17266	.	0.281160	0.26096	U	0.026362	D	0.88001	0.6320	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.79940	-0.1591	9	0.54805	T	0.06	-1.3136	.	.	.	.	49	P56180	TPTE_HUMAN	T	49;31	ENSP00000355208:A49T	ENSP00000399471:A31T	A	-	1	0	TPTE	9990974	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.394000	0.07296	0.578000	0.29487	0.400000	0.26472	GCA		0.463	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	179	0	0	0	1	0	7	179				
BIVM	54841	broad.mit.edu	37	13	103460029	103460029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103460029C>T	ENST00000257336.1	+	3	1091	c.412C>T	c.(412-414)Cct>Tct	p.P138S	BIVM_ENST00000419638.1_Missense_Mutation_p.P138S|BIVM_ENST00000448849.2_Intron|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.T109I	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	138						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGCAAGCTACCTCTCGCATG	0.388																																						ENST00000602836.1																			0											c.(325-327)aCc>aTc									40.0	41.0	41.0					13																	103460029		2203	4300	6503	SO:0001583	missense	0				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103460029C>T	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.412C>T	13.37:g.103460029C>T	ENSP00000257336:p.Pro138Ser					BIVM_ENST00000419638.1_Missense_Mutation_p.P138S|BIVM_ENST00000448849.2_Intron|BIVM_ENST00000257336.1_Missense_Mutation_p.P138S	p.T109I	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			1	326	+			0					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.326C>T	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703983	0.68501	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.22	5.22	0.72569	.	0.265332	0.39544	N	0.001330	T	0.65770	0.2723	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.71414	0.973;0.919	T	0.58301	-0.7660	9	0.19590	T	0.45	.	18.9754	0.92733	0.0:1.0:0.0:0.0	.	109;138	Q59FZ7;Q86UB2	.;BIVM_HUMAN	S	138;138;109	.	ENSP00000257336:P138S	P	+	1	0	ERCC5;BIVM	102258030	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.998000	0.49465	2.717000	0.92951	0.643000	0.83706	CCT		0.388	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			26	35	0	0	0	1	0	26	35				
MTMR2	8898	broad.mit.edu	37	11	95595446	95595446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:95595446C>T	ENST00000346299.5	-	4	687	c.347G>A	c.(346-348)aGc>aAc	p.S116N	MTMR2_ENST00000393223.3_Missense_Mutation_p.S44N|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.S44N|MTMR2_ENST00000409459.1_Missense_Mutation_p.S44N	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	116	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCGTTCCATGCTTTTGAAATA	0.348																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(130-132)aGc>aAc		myotubularin related protein 2							66.0	66.0	66.0					11																	95595446		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95595446C>T	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.347G>A	11.37:g.95595446C>T	ENSP00000345752:p.Ser116Asn					MTMR2_ENST00000409459.1_Missense_Mutation_p.S44N|MTMR2_ENST00000346299.5_Missense_Mutation_p.S116N|MTMR2_ENST00000352297.7_Missense_Mutation_p.S44N|MTMR2_ENST00000484818.1_5'UTR	p.S44N	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			6	793	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	116			Ser-rich.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.131G>A	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178594	0.57692	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.93	5.03	0.67393	GRAM (2);	0.149570	0.85682	D	0.000000	D	0.89357	0.6692	L	0.47716	1.5	0.47905	D	0.999549	B;B	0.06786	0.0;0.001	B;B	0.11329	0.004;0.006	D	0.85005	0.0902	10	0.26408	T	0.33	.	17.3831	0.87409	0.0:0.8751:0.1249:0.0	.	116;116	A8K5G2;Q13614	.;MTMR2_HUMAN	N	116;44;44;44;44;99	ENSP00000345752:S116N;ENSP00000376915:S44N;ENSP00000386882:S44N;ENSP00000343737:S44N;ENSP00000396020:S44N	ENSP00000345752:S116N	S	-	2	0	MTMR2	95235094	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.406000	0.59748	1.520000	0.48965	-0.121000	0.15023	AGC		0.348	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		17	34	0	0	0	1	0	17	34				
DNASE1L1	1774	broad.mit.edu	37	X	153633218	153633218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153633218G>A	ENST00000393638.1	-	4	548	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.P88S	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	88					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	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)					CCCAGCTGGGGGCTGCTCAGG	0.637																																						ENST00000369809.1																			0				lung(6)	6						c.(262-264)Ccc>Tcc		deoxyribonuclease I-like 1							35.0	34.0	34.0					X																	153633218		2202	4298	6500	SO:0001583	missense	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153633218G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.262C>T	X.37:g.153633218G>A	ENSP00000377255:p.Pro88Ser					DNASE1L1_ENST00000393638.1_Missense_Mutation_p.P88S	p.P88S	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN			6	891	-	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)		88					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.262C>T	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	1.147	-0.647762	0.03506	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000451865;ENST00000424626	T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.46;1.46	4.31	2.49	0.30216	Endonuclease/exonuclease/phosphatase (2);	1.059440	0.07307	N	0.875149	T	0.17492	0.0420	N	0.11427	0.14	0.19575	N	0.999969	B	0.20261	0.043	B	0.19666	0.026	T	0.29701	-1.0003	10	0.06625	T	0.88	-10.7516	5.9677	0.19334	0.2616:0.0:0.7384:0.0	.	88	P49184	DNSL1_HUMAN	S	88	ENSP00000358824:P88S;ENSP00000377255:P88S;ENSP00000014935:P88S;ENSP00000358823:P88S;ENSP00000358822:P88S;ENSP00000309168:P88S;ENSP00000393346:P88S;ENSP00000393000:P88S	ENSP00000014935:P88S	P	-	1	0	DNASE1L1	153286412	0.361000	0.24972	0.363000	0.25875	0.820000	0.46376	0.340000	0.19892	0.165000	0.19558	0.456000	0.33151	CCC		0.637	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			14	42	0	0	0	1	0	14	42				
LRRC61	65999	broad.mit.edu	37	7	150034543	150034543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150034543C>T	ENST00000359623.4	+	3	1181	c.593C>T	c.(592-594)cCc>cTc	p.P198L	LRRC61_ENST00000323078.7_Missense_Mutation_p.P198L|LRRC61_ENST00000493307.1_Missense_Mutation_p.P198L	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	198										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GAGGCCCAGCCCTGGGTGGAG	0.667																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(592-594)cCc>cTc		leucine rich repeat containing 61							34.0	37.0	36.0					7																	150034543		2203	4300	6503	SO:0001583	missense	65999							g.chr7:150034543C>T	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.593C>T	7.37:g.150034543C>T	ENSP00000352642:p.Pro198Leu					LRRC61_ENST00000493307.1_Missense_Mutation_p.P198L|LRRC61_ENST00000323078.7_Missense_Mutation_p.P198L	p.P198L	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1181	+			198					B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	c.593C>T	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332141	0.41297	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.72725	-0.68;-0.68;-0.68	3.97	3.97	0.46021	.	0.000000	0.64402	U	0.000001	T	0.76118	0.3943	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77186	-0.2680	10	0.49607	T	0.09	-29.8069	13.6487	0.62297	0.0:1.0:0.0:0.0	.	198	Q9BV99	LRC61_HUMAN	L	198	ENSP00000339047:P198L;ENSP00000352642:P198L;ENSP00000420560:P198L	ENSP00000339047:P198L	P	+	2	0	LRRC61	149665476	0.998000	0.40836	1.000000	0.80357	0.911000	0.54048	2.838000	0.48199	2.074000	0.62210	0.306000	0.20318	CCC		0.667	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		11	28	0	0	0	1	0	11	28				
RASL12	51285	broad.mit.edu	37	15	65351736	65351736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:65351736C>T	ENST00000220062.4	-	3	457	c.181G>A	c.(181-183)Gag>Aag	p.E61K	RASL12_ENST00000434605.2_Missense_Mutation_p.E50K|RASL12_ENST00000421977.3_Missense_Mutation_p.E42K	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	61					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.E61L(1)		lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TCCACAGTCTCCTCGGAGCTG	0.537																																						ENST00000220062.4																			1	Substitution - Missense(1)	p.E61L(1)	ovary(1)	lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(181-183)Gag>Aag		RAS-like, family 12							178.0	134.0	149.0					15																	65351736		2202	4299	6501	SO:0001583	missense	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65351736C>T	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.181G>A	15.37:g.65351736C>T	ENSP00000220062:p.Glu61Lys					RASL12_ENST00000421977.3_Missense_Mutation_p.E42K|RASL12_ENST00000434605.2_Missense_Mutation_p.E50K	p.E61K	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN			3	457	-			61					B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.181G>A	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640245	0.87859	.	.	ENSG00000103710	ENST00000220062;ENST00000421977;ENST00000434605	T;T;T	0.79554	-1.28;-1.28;-1.28	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88463	0.6443	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	0.989;0.999;1.0	P;D;D	0.71184	0.699;0.947;0.972	D	0.88413	0.3023	10	0.66056	D	0.02	.	19.9616	0.97254	0.0:1.0:0.0:0.0	.	50;42;61	B4DU82;B4DJW2;Q9NYN1	.;.;RASLC_HUMAN	K	61;42;50	ENSP00000220062:E61K;ENSP00000390028:E42K;ENSP00000412787:E50K	ENSP00000220062:E61K	E	-	1	0	RASL12	63138789	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.853000	0.75435	2.724000	0.93272	0.561000	0.74099	GAG		0.537	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		8	20	0	0	0	1	0	8	20				
USP20	10868	broad.mit.edu	37	9	132630370	132630370	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:132630370G>A	ENST00000315480.4	+	11	935	c.777G>A	c.(775-777)gaG>gaA	p.E259E	USP20_ENST00000372429.3_Silent_p.E259E|USP20_ENST00000358355.1_Silent_p.E259E			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	259	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGCTGACGGAGGCTCGGGACT	0.617																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(775-777)gaG>gaA		ubiquitin specific peptidase 20							64.0	79.0	74.0					9																	132630370		2147	4263	6410	SO:0001819	synonymous_variant	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630370G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.777G>A	9.37:g.132630370G>A						USP20_ENST00000358355.1_Silent_p.E259E|USP20_ENST00000372429.3_Silent_p.E259E	p.E259E			Q9Y2K6	UBP20_HUMAN			11	935	+		Ovarian(14;0.00556)	259					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.777G>A	CCDS43892.1																																																																																				0.617	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			9	84	0	0	0	1	0	9	84				
KCNRG	283518	broad.mit.edu	37	13	50594494	50594494	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:50594494C>T	ENST00000312942.1	+	2	963	c.723C>T	c.(721-723)agC>agT	p.S241S	KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	241					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		AATGCTATAGCTTTGAAAGGA	0.378																																						ENST00000312942.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(721-723)agC>agT		potassium channel regulator							73.0	69.0	70.0					13																	50594494		2203	4300	6503	SO:0001819	synonymous_variant	0					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50594494C>T		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.723C>T	13.37:g.50594494C>T						TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	p.S241S	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	2	963	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	241					A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Silent	SNP	ENST00000312942.1	37	c.723C>T	CCDS9424.1																																																																																				0.378	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			3	45	0	0	0	1	0	3	45				
DDX47	51202	broad.mit.edu	37	12	12974230	12974230	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:12974230G>A	ENST00000358007.3	+	3	292	c.270G>A	c.(268-270)ccG>ccA	p.P90P	DDX47_ENST00000352940.4_Silent_p.P90P|DDX47_ENST00000392155.2_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	90	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TGGAGACCCCGCAGCGTTTGT	0.522																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(268-270)ccG>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							140.0	138.0	139.0					12																	12974230		2203	4300	6503	SO:0001819	synonymous_variant	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12974230G>A	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.270G>A	12.37:g.12974230G>A						DDX47_ENST00000392155.2_3'UTR|DDX47_ENST00000352940.4_Silent_p.P90P|RP11-59H1.3_ENST00000534843.1_3'UTR	p.P90P	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	3	292	+		Prostate(47;0.0526)	90			Helicase ATP-binding.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Silent	SNP	ENST00000358007.3	37	c.270G>A	CCDS8655.1																																																																																				0.522	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		86	151	0	0	0	1	0	86	151				
CPXM1	56265	broad.mit.edu	37	20	2776264	2776264	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2776264G>A	ENST00000380605.2	-	11	1765	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	567					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCGTGTGCCAGTCAGCCCCGT	0.632																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1699-1701)gaC>gaT		carboxypeptidase X (M14 family), member 1							61.0	49.0	53.0					20																	2776264		2203	4300	6503	SO:0001819	synonymous_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776264G>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1701C>T	20.37:g.2776264G>A							p.D567D	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			11	1765	-			567					Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	c.1701C>T	CCDS13033.1																																																																																				0.632	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		14	32	0	0	0	1	0	14	32				
PLEKHA6	22874	broad.mit.edu	37	1	204228535	204228535	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:204228535C>T	ENST00000272203.3	-	8	1174	c.858G>A	c.(856-858)ccG>ccA	p.P286P	PLEKHA6_ENST00000414478.1_Silent_p.P306P|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	286	Pro-rich.									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)			CATCCTGAGACGGGAAAGCTG	0.642																																						ENST00000272203.3																			0				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						c.(856-858)ccG>ccA		pleckstrin homology domain containing, family A member 6							75.0	77.0	76.0					1																	204228535		2203	4300	6503	SO:0001819	synonymous_variant	22874							g.chr1:204228535C>T	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.858G>A	1.37:g.204228535C>T						PLEKHA6_ENST00000414478.1_Silent_p.P306P	p.P286P	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	1174	-	all_cancers(21;0.0222)|Breast(84;0.179)		286			Pro-rich.		A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	c.858G>A	CCDS1444.1																																																																																				0.642	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		5	78	0	0	0	1	0	5	78				
MYO6	4646	broad.mit.edu	37	6	76617408	76617408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:76617408C>T	ENST00000369977.3	+	31	3402	c.3263C>T	c.(3262-3264)aCc>aTc	p.T1088I	MYO6_ENST00000369975.1_Missense_Mutation_p.T1065I|MYO6_ENST00000369985.4_Missense_Mutation_p.T1065I|MYO6_ENST00000369981.3_Missense_Mutation_p.T1098I	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1097					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)			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)		CTACGTGATACCATCAATACT	0.368																																						ENST00000369981.3																			0				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						c.(3292-3294)aCc>aTc		myosin VI							110.0	103.0	105.0					6																	76617408		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76617408C>T	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.3263C>T	6.37:g.76617408C>T	ENSP00000358994:p.Thr1088Ile					MYO6_ENST00000369985.4_Missense_Mutation_p.T1065I|MYO6_ENST00000369975.1_Missense_Mutation_p.T1065I|MYO6_ENST00000369977.3_Missense_Mutation_p.T1088I	p.T1098I			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	32	3572	+		all_hematologic(105;0.189)	1097					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3293C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551485	0.45487	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	D;D;T;T	0.89270	-2.49;-2.48;2.24;-0.33	5.66	5.66	0.87406	.	0.053472	0.85682	D	0.000000	D	0.88040	0.6330	L	0.31578	0.945	0.44825	D	0.997834	B;P	0.51057	0.073;0.941	B;P	0.55871	0.022;0.786	D	0.88498	0.3080	10	0.52906	T	0.07	.	19.752	0.96271	0.0:1.0:0.0:0.0	.	1065;1088	Q9UM54-2;Q9UM54-1	.;.	I	1098;1098;1065;1088;1065;147	ENSP00000358998:T1098I;ENSP00000359002:T1065I;ENSP00000358994:T1088I;ENSP00000358992:T1065I	ENSP00000358992:T1065I	T	+	2	0	MYO6	76674128	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.526000	0.53509	2.668000	0.90789	0.462000	0.41574	ACC		0.368	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		16	41	0	0	0	1	0	16	41				
TEX15	56154	broad.mit.edu	37	8	30695497	30695497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:30695497G>A	ENST00000256246.2	-	3	7228	c.7154C>T	c.(7153-7155)cCa>cTa	p.P2385L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2385					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACCTTTTTTGGCGTTAAATG	0.388																																						ENST00000256246.2																			0				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						c.(7153-7155)cCa>cTa		testis expressed 15							173.0	173.0	173.0					8																	30695497		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695497G>A	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.7154C>T	8.37:g.30695497G>A	ENSP00000256246:p.Pro2385Leu						p.P2385L	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7228	-			2385						Missense_Mutation	SNP	ENST00000256246.2	37	c.7154C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292940	0.60086	.	.	ENSG00000133863	ENST00000256246	T	0.21361	2.01	4.81	4.81	0.61882	.	0.323928	0.22695	N	0.056769	T	0.33118	0.0852	L	0.56769	1.78	0.09310	N	0.999999	P	0.44946	0.846	P	0.50352	0.638	T	0.12268	-1.0554	10	0.87932	D	0	.	14.117	0.65161	0.0:0.0:1.0:0.0	.	2385	Q9BXT5	TEX15_HUMAN	L	2385	ENSP00000256246:P2385L	ENSP00000256246:P2385L	P	-	2	0	TEX15	30815039	0.955000	0.32602	0.028000	0.17463	0.019000	0.09904	1.451000	0.35145	2.607000	0.88179	0.462000	0.41574	CCA		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			4	190	0	0	0	1	0	4	190				
ALDOC	230	broad.mit.edu	37	17	26901738	26901738	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26901738G>A	ENST00000226253.4	-	5	991	c.516C>T	c.(514-516)gcC>gcT	p.A172A	ALDOC_ENST00000395321.2_Silent_p.A172A|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Silent_p.A172A|PIGS_ENST00000308360.7_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	172					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGGCATAACGGGCCAGCACGT	0.557											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000226253.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(514-516)gcC>gcT		aldolase C, fructose-bisphosphate							97.0	80.0	86.0					17																	26901738		2203	4300	6503	SO:0001819	synonymous_variant	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26901738G>A	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.516C>T	17.37:g.26901738G>A			OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	ALDOC_ENST00000395319.3_Silent_p.A172A|ALDOC_ENST00000395321.2_Silent_p.A172A	p.A172A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			5	991	-	Lung NSC(42;0.00431)		172					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Silent	SNP	ENST00000226253.4	37	c.516C>T	CCDS11236.1																																																																																				0.557	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			11	26	0	0	0	1	0	11	26				
MFSD10	10227	broad.mit.edu	37	4	2934123	2934123	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:2934123C>T	ENST00000329687.4	-	5	1182	c.648G>A	c.(646-648)ctG>ctA	p.L216L	MFSD10_ENST00000514800.1_Silent_p.L216L|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000507555.1_Silent_p.L216L|MFSD10_ENST00000355443.4_Silent_p.L216L|MFSD10_ENST00000508221.1_Silent_p.L216L|NOP14-AS1_ENST00000507999.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	216					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGATGAACAGCAGGTCGG	0.627																																						ENST00000329687.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(646-648)ctG>ctA		major facilitator superfamily domain containing 10							40.0	43.0	42.0					4																	2934123		2202	4300	6502	SO:0001819	synonymous_variant	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2934123C>T	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.648G>A	4.37:g.2934123C>T						MFSD10_ENST00000514800.1_Silent_p.L216L|MFSD10_ENST00000355443.4_Silent_p.L216L|MFSD10_ENST00000508221.1_Silent_p.L216L|MFSD10_ENST00000507555.1_Silent_p.L216L	p.L216L	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	5	1182	-			216					Q07706	Silent	SNP	ENST00000329687.4	37	c.648G>A	CCDS3365.1																																																																																				0.627	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		12	21	0	0	0	1	0	12	21				
SETD5	55209	broad.mit.edu	37	3	9490165	9490165	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9490165G>A	ENST00000406341.1	+	15	2387	c.2197G>A	c.(2197-2199)Gca>Aca	p.A733T	SETD5_ENST00000302463.6_Missense_Mutation_p.A635T|SETD5_ENST00000407969.1_Missense_Mutation_p.A752T|SETD5_ENST00000402466.1_Missense_Mutation_p.A635T|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.A733T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	733										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AACTGTACTGGCAACGACCCT	0.463																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1903-1905)Gca>Aca		SET domain containing 5							145.0	140.0	142.0					3																	9490165		1968	4164	6132	SO:0001583	missense	55209							g.chr3:9490165G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2197G>A	3.37:g.9490165G>A	ENSP00000383939:p.Ala733Thr					SETD5_ENST00000407969.1_Missense_Mutation_p.A752T|SETD5_ENST00000406341.1_Missense_Mutation_p.A733T|SETD5_ENST00000302463.6_Missense_Mutation_p.A635T|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.A733T	p.A635T			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	17	2671	+	Medulloblastoma(99;0.227)		733					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1903G>A	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.960009|4.960009	0.92791|0.92791	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.96136|.	-3.59;-3.92;-3.59;-3.56;-3.92|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76688|0.76688	0.4022|0.4022	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;0.998;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.995;0.996;0.996|.	T|T	0.74386|0.74386	-0.3682|-0.3682	10|5	0.87932|.	D|.	0|.	-13.9943|-13.9943	19.9759|19.9759	0.97304|0.97304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	402;635;733;752|.	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;SETD5_HUMAN;.|.	T|D	733;635;733;752;635|400;44	ENSP00000385852:A733T;ENSP00000384429:A635T;ENSP00000383939:A733T;ENSP00000384114:A752T;ENSP00000302028:A635T|.	ENSP00000302028:A635T|.	A|G	+|+	1|2	0|0	SETD5|SETD5	9465165|9465165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	9.476000|9.476000	0.97823|0.97823	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.463	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		23	41	0	0	0	1	0	23	41				
TUBA4A	7277	broad.mit.edu	37	2	220115215	220115215	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220115215C>T	ENST00000248437.4	-	4	1379	c.1206G>A	c.(1204-1206)agG>agA	p.R402R	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'Flank|TUBA4A_ENST00000392088.2_Silent_p.R387R	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	402					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|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)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GCACAAACGCCCTCTTGGCAT	0.617																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1159-1161)agG>agA		tubulin, alpha 4a							129.0	115.0	120.0					2																	220115215		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115215C>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.1206G>A	2.37:g.220115215C>T						TUBA4A_ENST00000248437.4_Silent_p.R402R	p.R387R	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1716	-		Renal(207;0.0474)	402					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.1161G>A	CCDS2438.1																																																																																				0.617	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		11	134	0	0	0	1	0	11	134				
EHD1	10938	broad.mit.edu	37	11	64621912	64621912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64621912C>T	ENST00000320631.3	-	5	1752	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	EHD1_ENST00000359393.2_Missense_Mutation_p.E500K|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	500	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGCGCGAACTCCTCGTCGTCC	0.647																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1498-1500)Gag>Aag		EH-domain containing 1							109.0	95.0	100.0					11																	64621912		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64621912C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1498G>A	11.37:g.64621912C>T	ENSP00000320516:p.Glu500Lys					EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.E500K	p.E500K	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1752	-			500			EF-hand.|EH.		O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.1498G>A	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384464	0.95967	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303	T;T	0.60040	0.22;0.22	4.39	4.39	0.52855	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.89968	0.4091	10	0.87932	D	0	.	14.4857	0.67616	0.0:1.0:0.0:0.0	.	500;500	B2R5U3;Q9H4M9	.;EHD1_HUMAN	K	500;500;476;397	ENSP00000320516:E500K;ENSP00000352354:E500K	ENSP00000320516:E500K	E	-	1	0	EHD1	64378488	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.576000	0.82467	2.267000	0.75376	0.561000	0.74099	GAG		0.647	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		21	38	0	0	0	1	0	21	38				
ZNF131	7690	broad.mit.edu	37	5	43174674	43174674	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:43174674G>A	ENST00000399534.1	+	7	1355	c.1311G>A	c.(1309-1311)agG>agA	p.R437R	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Silent_p.R403R|ZNF131_ENST00000306938.4_Silent_p.R403R|ZNF131_ENST00000509156.1_Silent_p.R437R|ZNF131_ENST00000505606.2_Silent_p.R403R			P52739	ZN131_HUMAN	zinc finger protein 131	437					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AATTAAGGAGGCATCTCAGTG	0.393																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1207-1209)agG>agA		zinc finger protein 131							106.0	97.0	100.0					5																	43174674		1906	4121	6027	SO:0001819	synonymous_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174674G>A	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1311G>A	5.37:g.43174674G>A						ZNF131_ENST00000505606.2_Silent_p.R403R|ZNF131_ENST00000399534.1_Silent_p.R437R|ZNF131_ENST00000306938.4_Silent_p.R403R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Silent_p.R437R	p.R403R			P52739	ZN131_HUMAN			7	1665	+			437					B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37	c.1209G>A																																																																																					0.393	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		4	75	0	0	0	1	0	4	75				
ACO1	48	broad.mit.edu	37	9	32420966	32420966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:32420966G>A	ENST00000309951.6	+	8	1049	c.911G>A	c.(910-912)gGa>gAa	p.G304E	ACO1_ENST00000379923.1_Missense_Mutation_p.G304E|ACO1_ENST00000541043.1_Missense_Mutation_p.G205E	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	304					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CCAGAGTACGGAGCAACTGCT	0.498																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(910-912)gGa>gAa		aconitase 1, soluble							211.0	196.0	201.0					9																	32420966		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32420966G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.911G>A	9.37:g.32420966G>A	ENSP00000309477:p.Gly304Glu					ACO1_ENST00000309951.5_Missense_Mutation_p.G304E|ACO1_ENST00000541043.1_Missense_Mutation_p.G205E	p.G304E	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	9	1117	+			304					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.911G>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784575	0.90282	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.75367	-0.93;-0.93;-0.93	5.84	5.84	0.93424	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93220	0.7840	H	0.99689	4.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95885	0.8902	10	0.87932	D	0	-4.4179	18.9181	0.92515	0.0:0.0:1.0:0.0	.	340;304	Q59FI0;P21399	.;ACOC_HUMAN	E	340;304;304;304;205	ENSP00000309477:G304E;ENSP00000369255:G304E;ENSP00000438733:G205E	ENSP00000309477:G304E	G	+	2	0	ACO1	32410966	1.000000	0.71417	0.955000	0.39395	0.986000	0.74619	8.006000	0.88564	2.779000	0.95612	0.591000	0.81541	GGA		0.498	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		116	205	0	0	0	1	0	116	205				
PRR16	51334	broad.mit.edu	37	5	120022304	120022304	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:120022304G>A	ENST00000407149.2	+	2	1024	c.815G>A	c.(814-816)aGt>aAt	p.S272N	PRR16_ENST00000379551.2_Missense_Mutation_p.S249N|PRR16_ENST00000505123.1_Missense_Mutation_p.S202N|PRR16_ENST00000446965.1_Missense_Mutation_p.S202N			Q569H4	LARGN_HUMAN	proline rich 16	272	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ATAAGCCACAGTAACAGCTTC	0.547																																						ENST00000379551.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(745-747)aGt>aAt		proline rich 16							80.0	76.0	77.0					5																	120022304		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120022304G>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.815G>A	5.37:g.120022304G>A	ENSP00000385118:p.Ser272Asn					PRR16_ENST00000505123.1_Missense_Mutation_p.S202N|PRR16_ENST00000407149.2_Missense_Mutation_p.S272N|PRR16_ENST00000446965.1_Missense_Mutation_p.S202N	p.S249N	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	1103	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	272			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.746G>A		.	.	.	.	.	.	.	.	.	.	G	18.78	3.696454	0.68386	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	L	0.51422	1.61	0.33191	D	0.550908	D;D	0.56521	0.969;0.976	P;P	0.52598	0.703;0.652	T	0.65203	-0.6225	9	.	.	.	-2.7075	17.1433	0.86760	0.0:0.0:1.0:0.0	.	272;249	Q569H4;Q569H4-3	PRR16_HUMAN;.	N	272;249;202;202	ENSP00000385118:S272N;ENSP00000368869:S249N;ENSP00000423446:S202N;ENSP00000405491:S202N	.	S	+	2	0	PRR16	120050203	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.690000	0.74567	2.322000	0.78497	0.655000	0.94253	AGT		0.547	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		16	27	0	0	0	1	0	16	27				
SYNE2	23224	broad.mit.edu	37	14	64468700	64468700	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:64468700G>A	ENST00000344113.4	+	29	3899	c.3687G>A	c.(3685-3687)aaG>aaA	p.K1229K	SYNE2_ENST00000554584.1_Silent_p.K1229K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.K1229K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1229					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)			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)		CTGTAGAGAAGGCATCACTTC	0.473																																						ENST00000358025.3																			0				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						c.(3685-3687)aaG>aaA		spectrin repeat containing, nuclear envelope 2							146.0	146.0	146.0					14																	64468700		1943	4136	6079	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64468700G>A	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.3687G>A	14.37:g.64468700G>A						SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.K1229K|SYNE2_ENST00000344113.4_Silent_p.K1229K	p.K1229K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	29	3917	+			1229					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.3687G>A	CCDS41963.1																																																																																				0.473	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		50	64	0	0	0	1	0	50	64				
PRKAG3	53632	broad.mit.edu	37	2	219688572	219688572	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219688572G>A	ENST00000529249.1	-	13	1698	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	PRKAG3_ENST00000439262.2_Silent_p.T436T|PRKAG3_ENST00000545803.1_Silent_p.T277T			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	461	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.T461T(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	AGAGATGCTGGGTCTCGTCCA	0.612																																						ENST00000439262.2																			1	Substitution - coding silent(1)	p.T461T(1)	upper_aerodigestive_tract(1)	large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1306-1308)acC>acT		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							126.0	99.0	108.0					2																	219688572		2203	4300	6503	SO:0001819	synonymous_variant	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219688572G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1383C>T	2.37:g.219688572G>A						PRKAG3_ENST00000529249.1_Silent_p.T461T|PRKAG3_ENST00000545803.1_Silent_p.T277T	p.T436T	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1403	-		Renal(207;0.0474)	461			CBS 4.		Q4QQG8|Q4V779|Q9NRL1	Silent	SNP	ENST00000529249.1	37	c.1308C>T	CCDS2424.1																																																																																				0.612	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			5	68	0	0	0	1	0	5	68				
PKDREJ	10343	broad.mit.edu	37	22	46658131	46658131	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46658131G>A	ENST00000253255.5	-	1	1088	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	363	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCGCATCTGGGTCCGAGGACG	0.552																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1087-1089)gaC>gaT		polycystin (PKD) family receptor for egg jelly							109.0	109.0	109.0					22																	46658131		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658131G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1089C>T	22.37:g.46658131G>A							p.D363D	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1088	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	363			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1089C>T	CCDS14073.1																																																																																				0.552	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		5	147	0	0	0	1	0	5	147				
IPO13	9670	broad.mit.edu	37	1	44422303	44422303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:44422303G>A	ENST00000372343.3	+	4	1696	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	345					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTCTGCACAGGCATCCCTGGC	0.542																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1033-1035)gGc>gAc		importin 13							150.0	136.0	141.0					1																	44422303		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422303G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1034G>A	1.37:g.44422303G>A	ENSP00000361418:p.Gly345Asp					IPO13_ENST00000492152.1_3'UTR	p.G345D	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			4	1696	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	345					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.1034G>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375510	0.82682	.	.	ENSG00000117408	ENST00000372343	T	0.66460	-0.21	5.75	5.75	0.90469	Armadillo-type fold (1);	0.045992	0.85682	D	0.000000	T	0.51534	0.1680	N	0.16166	0.38	0.80722	D	1	B	0.21520	0.057	B	0.14023	0.01	T	0.45366	-0.9266	10	0.17369	T	0.5	-18.6322	19.9441	0.97176	0.0:0.0:1.0:0.0	.	345	O94829	IPO13_HUMAN	D	345	ENSP00000361418:G345D	ENSP00000361418:G345D	G	+	2	0	IPO13	44194890	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.002000	0.88514	2.721000	0.93114	0.511000	0.50034	GGC		0.542	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		10	93	0	0	0	1	0	10	93				
B4GALNT3	283358	broad.mit.edu	37	12	659026	659026	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:659026G>A	ENST00000266383.5	+	10	958	c.945G>A	c.(943-945)gaG>gaA	p.E315E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	315					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCAGGGATGAGCAGCCGCCCG	0.637																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(943-945)gaG>gaA		beta-1,4-N-acetyl-galactosaminyl transferase 3							56.0	54.0	55.0					12																	659026		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:659026G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.945G>A	12.37:g.659026G>A							p.E315E	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		10	958	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		315					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.945G>A	CCDS8504.1																																																																																				0.637	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		4	45	0	0	0	1	0	4	45				
HNRNPA1	3178	broad.mit.edu	37	12	54675624	54675624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54675624G>A	ENST00000340913.6	+	3	231	c.178G>A	c.(178-180)Gtc>Atc	p.V60I	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.V60I|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.V60I|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.V60I|RP11-968A15.2_ENST00000547177.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	60	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)	p.V60L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTTTGGGTTTGTCACATATGC	0.473																																					Colon(83;502 1289 8436 16406 24870)	ENST00000546500.1																			2	Substitution - Missense(2)	p.V60L(2)	endometrium(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(178-180)Gtc>Atc		heterogeneous nuclear ribonucleoprotein A1							42.0	42.0	42.0					12																	54675624		2025	4191	6216	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675624G>A	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.178G>A	12.37:g.54675624G>A	ENSP00000341826:p.Val60Ile					HNRNPA1_ENST00000340913.6_Missense_Mutation_p.V60I|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.V60I|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.V60I|RP11-968A15.8_ENST00000553061.1_RNA	p.V60I			P09651	ROA1_HUMAN			3	793	+			60			Globular A domain.|RRM 1.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.178G>A	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938314	0.52972	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;2.64	3.81	3.81	0.43845	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49305	D	0.000157	T	0.42607	0.1210	L	0.52126	1.63	0.58432	D	0.99999	D;P;P;P;D;B;P;P	0.54207	0.965;0.659;0.797;0.589;0.965;0.003;0.797;0.913	P;B;P;B;P;B;P;P	0.57244	0.784;0.334;0.633;0.237;0.816;0.04;0.633;0.649	T	0.24333	-1.0163	10	0.38643	T	0.18	.	14.0089	0.64483	0.0:0.0:1.0:0.0	.	38;60;60;60;60;60;60;60	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;F8VXY0;P09651-3;P09651-2;P09651	.;.;.;.;.;.;.;ROA1_HUMAN	I	60;60;60;60;60;60;60;60;60;79;15	ENSP00000448617:V60I;ENSP00000448229:V60I;ENSP00000341826:V60I;ENSP00000333504:V60I;ENSP00000447260:V60I;ENSP00000447782:V79I;ENSP00000448917:V15I	ENSP00000333504:V60I	V	+	1	0	HNRNPA1	52961891	1.000000	0.71417	0.998000	0.56505	0.602000	0.36980	9.680000	0.98651	2.088000	0.63022	0.313000	0.20887	GTC		0.473	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		4	48	0	0	0	1	0	4	48				
PTCHD2	57540	broad.mit.edu	37	1	11591059	11591059	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11591059G>A	ENST00000294484.6	+	16	3336	c.3198G>A	c.(3196-3198)gtG>gtA	p.V1066V	PTCHD2_ENST00000389575.3_Silent_p.V1066V|PTCHD2_ENST00000304391.6_5'Flank	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1066					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGAGCTGGTGAAGCCGGGTG	0.617																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(3196-3198)gtG>gtA		patched domain containing 2							74.0	85.0	82.0					1																	11591059		2051	4201	6252	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11591059G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3198G>A	1.37:g.11591059G>A						PTCHD2_ENST00000389575.3_Silent_p.V1066V	p.V1066V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	16	3336	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1066					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.3198G>A	CCDS41247.1																																																																																				0.617	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		44	72	0	0	0	1	0	44	72				
ATF7IP	55729	broad.mit.edu	37	12	14599955	14599955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:14599955G>A	ENST00000540793.1	+	5	2118	c.1963G>A	c.(1963-1965)Gca>Aca	p.A655T	ATF7IP_ENST00000544627.1_Missense_Mutation_p.A663T|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A655T|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A654T|ATF7IP_ENST00000543189.1_Missense_Mutation_p.A654T			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	655	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACGCTTTGAAGCAGCCAAAGA	0.284																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1987-1989)Gca>Aca		activating transcription factor 7 interacting protein							54.0	61.0	59.0					12																	14599955		2203	4295	6498	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14599955G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1963G>A	12.37:g.14599955G>A	ENSP00000444589:p.Ala655Thr					ATF7IP_ENST00000540793.1_Missense_Mutation_p.A655T|ATF7IP_ENST00000543189.1_Missense_Mutation_p.A654T|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A654T|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A655T|ATF7IP_ENST00000541654.1_3'UTR	p.A663T			Q6VMQ6	MCAF1_HUMAN			6	2307	+			655			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1987G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999747	0.93227	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.21031	2.09;2.03;2.09;2.09;2.09	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000004	T	0.47192	0.1432	M	0.61703	1.905	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	1.0;1.0;0.96;0.96;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.933;0.933;0.998;0.998	T	0.40098	-0.9581	10	0.87932	D	0	-22.759	19.2538	0.93938	0.0:0.0:1.0:0.0	.	663;654;654;655;654;266	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	T	655;94;654;654;663;655	ENSP00000261168:A655T;ENSP00000443179:A654T;ENSP00000445955:A654T;ENSP00000440440:A663T;ENSP00000444589:A655T	ENSP00000261168:A655T	A	+	1	0	ATF7IP	14491222	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.778000	0.62368	2.648000	0.89879	0.563000	0.77884	GCA		0.284	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		6	57	0	0	0	1	0	6	57				
APOB	338	broad.mit.edu	37	2	21230947	21230947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:21230947C>T	ENST00000233242.1	-	26	8920	c.8793G>A	c.(8791-8793)tgG>tgA	p.W2931*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2931					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)			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)					TGGGGCAGGCCCATTTCCATG	0.468																																						ENST00000233242.1																			0				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						c.(8791-8793)tgG>tgA		apolipoprotein B	Atorvastatin(DB01076)						164.0	160.0	161.0					2																	21230947		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230947C>T	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.8793G>A	2.37:g.21230947C>T	ENSP00000233242:p.Trp2931*						p.W2931*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8920	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2931					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.8793G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	50	16.064388	0.99853	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.74	5.74	0.90152	.	0.838313	0.10354	N	0.684795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.919	0.97077	0.0:1.0:0.0:0.0	.	.	.	.	X	2931	.	ENSP00000233242:W2931X	W	-	3	0	APOB	21084452	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.518000	0.35877	2.712000	0.92718	0.561000	0.74099	TGG		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	149	0	0	0	1	0	10	149				
CYP11A1	1583	broad.mit.edu	37	15	74628367	74628367	+	IGR	SNP	G	G	A	rs376915716		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74628367G>A	ENST00000268053.6	-	0	1934				CCDC33_ENST00000398814.3_Silent_p.K747K|CCDC33_ENST00000268082.4_3'UTR|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000558821.1_3'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GCCCCCAGAAGGAGACCGCTA	0.587																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000398814.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2239-2241)aaG>aaA		coiled-coil domain containing 33		G	,	0,3904		0,0,1952	48.0	53.0	51.0		2241,	-1.2	0.0	15		51	1,8279		0,1,4139	no	coding-synonymous,utr-3	CCDC33	NM_025055.3,NM_182791.2	,	0,1,6091	AA,AG,GG		0.0121,0.0,0.0082	,	747/756,	74628367	1,12183	1952	4140	6092	SO:0001628	intergenic_variant	80125						protein binding	g.chr15:74628367G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74628367G>A						CCDC33_ENST00000558821.1_3'UTR|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000268082.4_3'UTR	p.K747K	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN			19	2672	+			950					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.2241G>A	CCDS32291.1																																																																																				0.587	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			15	24	0	0	0	1	0	15	24				
DDX42	11325	broad.mit.edu	37	17	61889292	61889292	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61889292G>A	ENST00000578681.1	+	15	2000	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	DDX42_ENST00000359353.5_Splice_Site_p.A348T|DDX42_ENST00000583590.1_Splice_Site_p.A467T|DDX42_ENST00000457800.2_Splice_Site_p.A467T|DDX42_ENST00000389924.2_Splice_Site_p.A467T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	467					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCTTCTCAGGCAAATGAAGA	0.453																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.e15-1		DEAD (Asp-Glu-Ala-Asp) box helicase 42							192.0	197.0	195.0					17																	61889292		2203	4300	6503	SO:0001630	splice_region_variant	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61889292G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1399-1G>A	17.37:g.61889292G>A						DDX42_ENST00000457800.2_Splice_Site_p.A467_splice|DDX42_ENST00000389924.2_Splice_Site_p.A467_splice|DDX42_ENST00000359353.5_Splice_Site_p.A348_splice|DDX42_ENST00000583590.1_Splice_Site_p.A467_splice	p.A467_splice	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			15	2000	+			467					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Splice_Site	SNP	ENST00000578681.1	37	c.1398_splice	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465872	0.96257	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.23348	1.91;1.91	5.64	5.64	0.86602	DEAD-like helicase (1);	0.213930	0.47093	D	0.000243	T	0.54367	0.1854	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.981	T	0.51020	-0.8758	9	.	.	.	-12.8696	19.0639	0.93103	0.0:0.0:1.0:0.0	.	13;467	B3KV84;Q86XP3	.;DDX42_HUMAN	T	467;467;203	ENSP00000374574:A467T;ENSP00000390121:A467T	.	A	+	1	0	DDX42	59243024	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.799000	0.99117	2.833000	0.97629	0.650000	0.86243	GCA		0.453	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372	Missense_Mutation	121	277	0	0	0	1	0	121	277				
LRTM2	654429	broad.mit.edu	37	12	1940444	1940444	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:1940444G>A	ENST00000543818.1	+	4	1253	c.411G>A	c.(409-411)cgG>cgA	p.R137R	LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Silent_p.R137R|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Silent_p.R137R|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	137						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			ACCTGCTGCGGCACTCGCCGC	0.652																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(409-411)cgG>cgA		leucine-rich repeats and transmembrane domains 2							45.0	51.0	49.0					12																	1940444		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr12:1940444G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.411G>A	12.37:g.1940444G>A						LRTM2_ENST00000535041.1_Silent_p.R137R|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Silent_p.R137R|CACNA2D4_ENST00000588077.1_Intron	p.R137R	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1253	+	Ovarian(42;0.107)		137					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.411G>A	CCDS31726.1																																																																																				0.652	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			5	98	0	0	0	1	0	5	98				
TRPC4AP	26133	broad.mit.edu	37	20	33632369	33632369	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33632369G>A	ENST00000252015.2	-	7	893	c.804C>T	c.(802-804)gcC>gcT	p.A268A	TRPC4AP_ENST00000432634.2_Silent_p.A229A|TRPC4AP_ENST00000451813.2_Silent_p.A268A			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	268	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGCATTTTTGGCAAGAAGCG	0.443																																						ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(802-804)gcC>gcT		transient receptor potential cation channel, subfamily C, member 4 associated protein							131.0	128.0	129.0					20																	33632369		2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33632369G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.804C>T	20.37:g.33632369G>A						TRPC4AP_ENST00000432634.2_Silent_p.A229A|TRPC4AP_ENST00000451813.1_Silent_p.A268A	p.A268A			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		7	893	-			268			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.804C>T	CCDS13246.1																																																																																				0.443	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		7	133	0	0	0	1	0	7	133				
COL11A2	1302	broad.mit.edu	37	6	33132085	33132085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33132085C>T	ENST00000374708.4	-	63	5029	c.4771G>A	c.(4771-4773)Gag>Aag	p.E1591K	COL11A2_ENST00000374712.1_Missense_Mutation_p.E1596K|COL11A2_ENST00000341947.2_Missense_Mutation_p.E1677K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E1630K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E1656K|COL11A2_ENST00000395197.1_Missense_Mutation_p.E1617K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E1570K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E1651K|COL11A2_ENST00000477772.1_5'UTR	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1677	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGCTAGTCTCCGGGCTCAGC	0.617																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(5029-5031)Gag>Aag		collagen, type XI, alpha 2							35.0	35.0	35.0					6																	33132085		1510	2708	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33132085C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4771G>A	6.37:g.33132085C>T	ENSP00000363840:p.Glu1591Lys					COL11A2_ENST00000374714.1_Missense_Mutation_p.E1651K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E1656K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E1570K|COL11A2_ENST00000374708.4_Missense_Mutation_p.E1591K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E1630K|COL11A2_ENST00000395197.1_Missense_Mutation_p.E1617K|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.E1596K	p.E1677K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			65	5256	-			1677			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.5029G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985194	0.74474	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	4.87	4.87	0.63330	Fibrillar collagen, C-terminal (4);	0.142017	0.46145	D	0.000315	T	0.73946	0.3652	L	0.52573	1.65	0.46564	D	0.999102	P;B;B;B	0.52577	0.954;0.206;0.206;0.245	P;B;B;B	0.60173	0.87;0.085;0.085;0.138	T	0.75764	-0.3203	10	0.52906	T	0.07	.	11.2595	0.49074	0.0:0.8153:0.1847:0.0	.	273;1570;1591;1677	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	K	1591;1677;1656;1651;1630;1617;1596;1570;247	ENSP00000363840:E1591K;ENSP00000339915:E1677K;ENSP00000350079:E1656K;ENSP00000363846:E1651K;ENSP00000363845:E1630K;ENSP00000378623:E1617K;ENSP00000363844:E1596K;ENSP00000355123:E1570K	ENSP00000339915:E1677K	E	-	1	0	COL11A2	33240063	0.998000	0.40836	0.947000	0.38551	0.986000	0.74619	3.752000	0.55172	2.522000	0.85027	0.643000	0.83706	GAG		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			3	34	0	0	0	1	0	3	34				
RB1	5925	broad.mit.edu	37	13	49050919	49050919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:49050919C>T	ENST00000267163.4	+	25	2741	c.2603C>T	c.(2602-2604)cCt>cTt	p.P868L	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	868	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGAAGCAACCCTCCTAAACCA	0.408		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2602-2604)cCt>cTt		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						126.0	123.0	124.0					13																	49050919		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49050919C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2603C>T	13.37:g.49050919C>T	ENSP00000267163:p.Pro868Leu	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_ENST00000484879.1_3'UTR	p.P868L	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	25	2741	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	868			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2603C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018337	0.75275	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.80304	-1.36	5.84	5.84	0.93424	Rb C-terminal (1);	0.138711	0.49305	D	0.000156	T	0.68833	0.3044	N	0.08118	0	0.54753	D	0.999984	P	0.35124	0.485	B	0.34991	0.193	T	0.72795	-0.4185	10	0.72032	D	0.01	.	19.7343	0.96195	0.0:1.0:0.0:0.0	.	868	P06400	RB_HUMAN	L	847;868	ENSP00000267163:P868L	ENSP00000267163:P868L	P	+	2	0	RB1	47948920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.914000	0.75764	2.751000	0.94390	0.591000	0.81541	CCT		0.408	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			3	48	0	0	0	1	0	3	48				
HLCS	3141	broad.mit.edu	37	21	38269187	38269187	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:38269187G>A	ENST00000399120.1	-	7	2654	c.1424C>T	c.(1423-1425)aCc>aTc	p.T475I	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Missense_Mutation_p.T475I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	475	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CGTTGTGGGGGTCACTTCGGC	0.478																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1423-1425)aCc>aTc		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						94.0	83.0	86.0					21																	38269187		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38269187G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1424C>T	21.37:g.38269187G>A	ENSP00000382071:p.Thr475Ile					HLCS_ENST00000336648.3_Missense_Mutation_p.T475I|HLCS_ENST00000482273.1_5'UTR	p.T475I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			7	2654	-		Myeloproliferative disorder(46;0.0422)	475					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1424C>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877893	0.51801	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.96774	-4.12;-4.12	4.85	4.85	0.62838	.	0.098396	0.64402	D	0.000002	D	0.95626	0.8578	L	0.31065	0.9	0.53005	D	0.999967	D	0.54964	0.969	P	0.56127	0.792	D	0.95085	0.8217	10	0.35671	T	0.21	.	17.9336	0.89006	0.0:0.0:1.0:0.0	.	475	P50747	BPL1_HUMAN	I	475	ENSP00000382071:T475I;ENSP00000338387:T475I	ENSP00000338387:T475I	T	-	2	0	HLCS	37191057	1.000000	0.71417	0.939000	0.37840	0.131000	0.20780	5.435000	0.66532	2.401000	0.81631	0.563000	0.77884	ACC		0.478	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			16	34	0	0	0	1	0	16	34				
CARHSP1	23589	broad.mit.edu	37	16	8949045	8949045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:8949045C>T	ENST00000396593.2	-	4	779	c.420G>A	c.(418-420)tgG>tgA	p.W140*	CARHSP1_ENST00000561530.1_Nonsense_Mutation_p.W140*|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567554.1_Nonsense_Mutation_p.W140*|CARHSP1_ENST00000311052.5_Nonsense_Mutation_p.W140*|RP11-77H9.5_ENST00000564919.1_RNA	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	140					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						CATGTCCAGACCAGGTCTCAT	0.557																																						ENST00000396593.2																			0				endometrium(2)|lung(1)	3						c.(418-420)tgG>tgA		calcium regulated heat stable protein 1, 24kDa							170.0	124.0	139.0					16																	8949045		2197	4300	6497	SO:0001587	stop_gained	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8949045C>T	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"""calcium regulated heat stable protein 1 (24kD)"""			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.420G>A	16.37:g.8949045C>T	ENSP00000379838:p.Trp140*					CARHSP1_ENST00000561530.1_Nonsense_Mutation_p.W140*|CARHSP1_ENST00000311052.5_Nonsense_Mutation_p.W140*|CARHSP1_ENST00000567554.1_Nonsense_Mutation_p.W140*|RP11-77H9.2_ENST00000565934.1_RNA	p.W140*	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN			4	779	-			140					B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Nonsense_Mutation	SNP	ENST00000396593.2	37	c.420G>A	CCDS10537.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799345	0.90538	.	.	ENSG00000153048	ENST00000396593;ENST00000311052	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.0486	19.0512	0.93046	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000311847:W140X	W	-	3	0	CARHSP1	8856546	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.726000	0.84824	2.735000	0.93741	0.655000	0.94253	TGG		0.557	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		17	18	0	0	0	1	0	17	18				
CACNA1F	778	broad.mit.edu	37	X	49083453	49083453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:49083453G>A	ENST00000376265.2	-	9	1316	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P419S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P354S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	419					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGGCGGAGGGGTCCTCCATG	0.607																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(1255-1257)Ccc>Tcc		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						67.0	45.0	53.0					X																	49083453		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49083453G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1255C>T	X.37:g.49083453G>A	ENSP00000365441:p.Pro419Ser					CACNA1F_ENST00000323022.5_Missense_Mutation_p.P419S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P354S	p.P419S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			9	1316	-			419					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.1255C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623259	0.28889	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.95918	-3.85;-3.09;-3.78	4.31	3.37	0.38596	.	2.097830	0.02440	N	0.084415	D	0.91888	0.7432	N	0.19112	0.55	0.26721	N	0.970777	P;B	0.45474	0.859;0.267	B;B	0.41917	0.37;0.039	D	0.85938	0.1456	10	0.62326	D	0.03	.	8.5048	0.33181	0.0:0.2329:0.7671:0.0	.	419;419	F5CIQ9;O60840	.;CAC1F_HUMAN	S	354;419;419	ENSP00000365427:P354S;ENSP00000321618:P419S;ENSP00000365441:P419S	ENSP00000321618:P419S	P	-	1	0	CACNA1F	48970397	.	.	0.974000	0.42286	0.569000	0.35902	.	.	2.144000	0.66660	0.425000	0.28330	CCC		0.607	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		12	15	0	0	0	1	0	12	15				
OBFC1	79991	broad.mit.edu	37	10	105677247	105677247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105677247C>T	ENST00000224950.3	-	2	273	c.106G>A	c.(106-108)Gac>Aac	p.D36N	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D36N	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	36					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCCTTCATGTCCAGGATATCC	0.567																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(106-108)Gac>Aac		oligonucleotide/oligosaccharide-binding fold containing 1							62.0	60.0	61.0					10																	105677247		2203	4300	6503	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105677247C>T	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.106G>A	10.37:g.105677247C>T	ENSP00000224950:p.Asp36Asn					OBFC1_ENST00000369764.1_Missense_Mutation_p.D36N|OBFC1_ENST00000466828.1_5'UTR	p.D36N	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	2	273	-		Colorectal(252;0.178)	36					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.106G>A	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640690	0.47153	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.43688	0.94;0.94	5.67	1.17	0.20885	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.826629	0.11639	N	0.543946	T	0.17874	0.0429	N	0.04043	-0.29	0.22926	N	0.998559	B	0.02656	0.0	B	0.04013	0.001	T	0.18618	-1.0331	10	0.32370	T	0.25	-2.305	4.4477	0.11606	0.1597:0.5309:0.0:0.3094	.	36	Q9H668	STN1_HUMAN	N	36	ENSP00000224950:D36N;ENSP00000358779:D36N	ENSP00000224950:D36N	D	-	1	0	OBFC1	105667237	0.785000	0.28726	0.956000	0.39512	0.951000	0.60555	-0.042000	0.12063	0.323000	0.23307	0.561000	0.74099	GAC		0.567	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		14	22	0	0	0	1	0	14	22				
SLC2A4	6517	broad.mit.edu	37	17	7187181	7187181	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7187181G>A	ENST00000317370.8	+	4	716	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	SLC2A4_ENST00000571308.1_Splice_Site_p.G150R|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Splice_Site_p.G140R	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	150					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGCCTACTCAGGTACTCACGG	0.597																																						ENST00000317370.8																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.e4+1		solute carrier family 2 (facilitated glucose transporter), member 4							63.0	59.0	60.0					17																	7187181		2203	4300	6503	SO:0001630	splice_region_variant	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7187181G>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.448+1G>A	17.37:g.7187181G>A						SLC2A4_ENST00000424875.2_Splice_Site_p.G140_splice|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Splice_Site_p.G150_splice	p.G150_splice	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN			4	716	+			150					Q05BQ3|Q14CX2	Splice_Site	SNP	ENST00000317370.8	37	c.448_splice	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458477	0.84317	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	D;D	0.92249	-3.0;-3.0	5.23	5.23	0.72850	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.98645	1.0677	10	0.87932	D	0	.	14.17	0.65503	0.0:0.0:1.0:0.0	.	150;140	P14672;F5H081	GTR4_HUMAN;.	R	150;140	ENSP00000320935:G150R;ENSP00000396887:G140R	ENSP00000320935:G150R	G	+	1	0	SLC2A4	7127905	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.998000	0.57024	2.721000	0.93114	0.655000	0.94253	GGG		0.597	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		Missense_Mutation	11	28	0	0	0	1	0	11	28				
ARHGAP12	94134	broad.mit.edu	37	10	32150526	32150526	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:32150526G>A	ENST00000344936.2	-	4	979	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	ARHGAP12_ENST00000375245.4_Silent_p.L249L|ARHGAP12_ENST00000375250.5_Silent_p.L249L|ARHGAP12_ENST00000311380.4_Silent_p.L249L|ARHGAP12_ENST00000396144.4_Silent_p.L249L	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	249					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GATATTTTCAGTTCTTGAAGG	0.433																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(745-747)Ctg>Ttg		Rho GTPase activating protein 12							77.0	79.0	78.0					10																	32150526		2203	4300	6503	SO:0001819	synonymous_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32150526G>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.745C>T	10.37:g.32150526G>A						ARHGAP12_ENST00000311380.4_Silent_p.L249L|ARHGAP12_ENST00000344936.2_Silent_p.L249L|ARHGAP12_ENST00000396144.4_Silent_p.L249L|ARHGAP12_ENST00000375245.4_Silent_p.L249L	p.L249L	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			4	986	-		Prostate(175;0.0199)	249					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Silent	SNP	ENST00000344936.2	37	c.745C>T	CCDS7170.1																																																																																				0.433	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			25	50	0	0	0	1	0	25	50				
PNN	5411	broad.mit.edu	37	14	39650090	39650090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:39650090G>A	ENST00000216832.4	+	9	1244	c.1177G>A	c.(1177-1179)Gtt>Att	p.V393I	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	393	Glu-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GCTAGAGATGGTTGAGAATGT	0.418																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1177-1179)Gtt>Att		pinin, desmosome associated protein							127.0	107.0	114.0					14																	39650090		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650090G>A	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1177G>A	14.37:g.39650090G>A	ENSP00000216832:p.Val393Ile					PNN_ENST00000557680.1_Intron	p.V393I	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	1244	+	Hepatocellular(127;0.213)		393			Glu-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.1177G>A	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257434	0.22965	.	.	ENSG00000100941	ENST00000216832	T	0.31247	1.5	5.96	5.07	0.68467	.	0.574352	0.18323	N	0.144745	T	0.16642	0.0400	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05435	-1.0885	10	0.37606	T	0.19	-3.0258	10.3997	0.44222	0.0738:0.0:0.7903:0.1359	.	393	Q9H307	PININ_HUMAN	I	393	ENSP00000216832:V393I	ENSP00000216832:V393I	V	+	1	0	PNN	38719841	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	3.874000	0.56101	1.513000	0.48852	0.650000	0.86243	GTT		0.418	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		14	39	0	0	0	1	0	14	39				
EPS15	2060	broad.mit.edu	37	1	51875345	51875345	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:51875345C>T	ENST00000371733.3	-	14	1233	c.1137G>A	c.(1135-1137)agG>agA	p.R379R	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Silent_p.R56R|EPS15_ENST00000371730.2_Silent_p.R379R	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	379					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TAGTATTCTCCCTTTGAACTT	0.398			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1135-1137)agG>agA		epidermal growth factor receptor pathway substrate 15							107.0	102.0	103.0					1																	51875345		2203	4300	6503	SO:0001819	synonymous_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51875345C>T	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1137G>A	1.37:g.51875345C>T						EPS15_ENST00000396122.4_Silent_p.R56R|EPS15_ENST00000371730.2_Silent_p.R379R|EPS15_ENST00000493793.1_5'UTR	p.R379R	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			14	1233	-			379					B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	c.1137G>A	CCDS557.1																																																																																				0.398	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		6	92	0	0	0	1	0	6	92				
PCDH7	5099	broad.mit.edu	37	4	30725692	30725692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:30725692G>A	ENST00000361762.2	+	1	3656	c.2648G>A	c.(2647-2649)gGc>gAc	p.G883D	PCDH7_ENST00000543491.1_Missense_Mutation_p.G883D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	883					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATTGTCATTGGCGTGGTTGCT	0.438																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2647-2649)gGc>gAc		protocadherin 7							120.0	117.0	118.0					4																	30725692		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725692G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2648G>A	4.37:g.30725692G>A	ENSP00000355243:p.Gly883Asp					PCDH7_ENST00000543491.1_Missense_Mutation_p.G883D	p.G883D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3656	+			883					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2648G>A	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.60|18.60	3.659646|3.659646	0.67586|0.67586	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.37752|.	1.18;1.18|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|.	0.74604|.	0.3738|.	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.997;0.999|.	T|.	0.72811|.	-0.4180|.	9|.	0.87932|.	D|.	0|.	.|.	18.8391|18.8391	0.92174|0.92174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	883;836;883|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	D|X	883;883;836|572	ENSP00000355243:G883D;ENSP00000441802:G883D|.	ENSP00000330302:G836D|.	G|W	+|+	2|3	0|0	PCDH7|PCDH7	30334790|30334790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	9.657000|9.657000	0.98554|0.98554	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.438	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		19	67	0	0	0	1	0	19	67				
TTN	7273	broad.mit.edu	37	2	179614382	179614382	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179614382C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E4249K|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGACAGGCTCCACTGTTAGA	0.338																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12745-12747)Gag>Aag		titin							55.0	60.0	59.0					2																	179614382		2199	4297	6496	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614382C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3468G>A	2.37:g.179614382C>T						TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.E4249K	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12967	-			6911					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12745G>A		.	.	.	.	.	.	.	.	.	.	C	12.77	2.037876	0.35989	.	.	ENSG00000155657	ENST00000360870	T	0.39997	1.05	6.06	6.06	0.98353	.	.	.	.	.	T	0.28300	0.0699	N	0.24115	0.695	0.80722	D	1	P	0.42296	0.775	B	0.39660	0.306	T	0.08330	-1.0727	9	0.05525	T	0.97	.	16.3127	0.82898	0.0:0.8328:0.1672:0.0	.	4249	Q8WZ42-6	.	K	4249	ENSP00000354117:E4249K	ENSP00000354117:E4249K	E	-	1	0	TTN	179322627	0.774000	0.28592	0.957000	0.39632	0.436000	0.31835	1.498000	0.35660	2.882000	0.98803	0.655000	0.94253	GAG		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	72	0	0	0	1	0	42	72				
MICALL2	79778	broad.mit.edu	37	7	1484455	1484455	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:1484455C>T	ENST00000297508.7	-	6	1426	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	MICALL2_ENST00000405088.4_Silent_p.R205R	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	417	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AAAACTTATTCCGGGCCTGCT	0.612																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(1249-1251)cgG>cgA		MICAL-like 2							16.0	19.0	18.0					7																	1484455		2169	4273	6442	SO:0001819	synonymous_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1484455C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1251G>A	7.37:g.1484455C>T						MICALL2_ENST00000405088.4_Silent_p.R205R	p.R417R	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	6	1426	-		Ovarian(82;0.0253)	417					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	c.1251G>A	CCDS5324.1																																																																																				0.612	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		7	17	0	0	0	1	0	7	17				
PLA2G4F	255189	broad.mit.edu	37	15	42446309	42446309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42446309G>A	ENST00000382396.4	-	4	517	c.431C>T	c.(430-432)aCc>aTc	p.T144I	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.T144I			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	144					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAGTGGGAAGGTGTGTTTGTG	0.617																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(430-432)aCc>aTc		phospholipase A2, group IVF							101.0	93.0	96.0					15																	42446309		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42446309G>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.431C>T	15.37:g.42446309G>A	ENSP00000371833:p.Thr144Ile					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.T144I	p.T144I	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	4	522	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	144					Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.431C>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	8.345	0.829663	0.16749	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.63255	-0.03;-0.03	5.33	-1.12	0.09808	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.472817	0.21217	N	0.078208	T	0.41419	0.1158	L	0.43152	1.355	0.19775	N	0.999954	P	0.37500	0.597	B	0.33799	0.17	T	0.24476	-1.0159	10	0.35671	T	0.21	-14.4011	1.8402	0.03148	0.3582:0.122:0.3943:0.1255	.	144	Q68DD2	PA24F_HUMAN	I	140;144;144;144;144	ENSP00000380442:T144I;ENSP00000371833:T144I	ENSP00000290497:T140I	T	-	2	0	PLA2G4F	40233601	0.811000	0.29063	0.225000	0.23894	0.120000	0.20174	0.144000	0.16135	-0.379000	0.07906	-0.756000	0.03474	ACC		0.617	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		18	62	0	0	0	1	0	18	62				
LRGUK	136332	broad.mit.edu	37	7	133812376	133812376	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:133812376G>A	ENST00000285928.2	+	1	325	c.256G>A	c.(256-258)Gga>Aga	p.G86R	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGGCGAGGCGGGATCCGAGGA	0.612																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(256-258)Gga>Aga		leucine-rich repeats and guanylate kinase domain containing							87.0	84.0	85.0					7																	133812376		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133812376G>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.256G>A	7.37:g.133812376G>A	ENSP00000285928:p.Gly86Arg					LRGUK_ENST00000473068.1_3'UTR	p.G86R	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			1	325	+			86					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.256G>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	3.697	-0.062320	0.07317	.	.	ENSG00000155530	ENST00000285928	T	0.35421	1.31	3.95	2.15	0.27550	.	0.253298	0.28284	N	0.015904	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15009	-1.0452	10	0.33141	T	0.24	-12.889	6.3562	0.21402	0.2245:0.0:0.7755:0.0	.	86	Q96M69	LRGUK_HUMAN	R	86	ENSP00000285928:G86R	ENSP00000285928:G86R	G	+	1	0	LRGUK	133462916	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.867000	0.27968	0.634000	0.30469	-0.137000	0.14449	GGA		0.612	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		10	66	0	0	0	1	0	10	66				
SEPT1	1731	broad.mit.edu	37	16	30387536	30387536	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30387536C>T	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.A56V			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			ACCTTCGCAGCCATGGGTGAG	0.592																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.(166-168)gCc>gTc		myosin light chain, phosphorylatable, fast skeletal muscle							48.0	48.0	48.0					16																	30387536		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30387536C>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387536C>T							p.A56V	NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		3	248	+			56			EF-hand 1.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.167C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.060424	0.76074	.	.	ENSG00000180209	ENST00000322861	T	0.79454	-1.27	5.31	5.31	0.75309	EF-hand-like domain (1);	0.113863	0.64402	D	0.000012	T	0.79890	0.4524	M	0.75264	2.295	0.52501	D	0.999951	B	0.29886	0.26	B	0.32342	0.144	T	0.80705	-0.1263	10	0.87932	D	0	.	17.7472	0.88424	0.0:1.0:0.0:0.0	.	56	Q96A32	MLRS_HUMAN	V	56	ENSP00000325239:A56V	ENSP00000325239:A56V	A	+	2	0	MYLPF	30295037	0.988000	0.35896	1.000000	0.80357	0.977000	0.68977	3.367000	0.52350	2.485000	0.83878	0.467000	0.42956	GCC		0.592	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		15	25	0	0	0	1	0	15	25				
ITGA4	3676	broad.mit.edu	37	2	182339717	182339717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:182339717C>T	ENST00000397033.2	+	3	780	c.350C>T	c.(349-351)aCt>aTt	p.T117I	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.T117I	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	117					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGTGGAAAGACTTGTTTGGAA	0.418																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(349-351)aCt>aTt		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						103.0	99.0	100.0					2																	182339717		1876	4108	5984	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182339717C>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.350C>T	2.37:g.182339717C>T	ENSP00000380227:p.Thr117Ile					ITGA4_ENST00000339307.4_Missense_Mutation_p.T117I|ITGA4_ENST00000478440.1_3'UTR	p.T117I	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		3	780	+			117					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.350C>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779163	0.70107	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.54071	0.59;0.59;0.59	5.28	5.28	0.74379	.	0.049069	0.85682	D	0.000000	T	0.74222	0.3688	M	0.77103	2.36	0.48571	D	0.999678	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.961	T	0.76383	-0.2979	10	0.59425	D	0.04	.	19.2608	0.93967	0.0:1.0:0.0:0.0	.	117;117	E7EP60;P13612	.;ITA4_HUMAN	I	117	ENSP00000340149:T117I;ENSP00000380227:T117I;ENSP00000233573:T117I	ENSP00000233573:T117I	T	+	2	0	ITGA4	182047962	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.832000	0.55783	2.623000	0.88846	0.655000	0.94253	ACT		0.418	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			4	41	0	0	0	1	0	4	41				
MYBPH	4608	broad.mit.edu	37	1	203138185	203138185	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:203138185G>A	ENST00000255416.4	-	9	1323	c.1266C>T	c.(1264-1266)atC>atT	p.I422I		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	422	Ig-like C2-type 2.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGTTGCCCTGGATCTCCATCT	0.567																																					NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.(1264-1266)atC>atT		myosin binding protein H							94.0	97.0	96.0					1																	203138185		2203	4300	6503	SO:0001819	synonymous_variant	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203138185G>A	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.1266C>T	1.37:g.203138185G>A							p.I422I	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	9	1323	-			422			Ig-like C2-type 2.		Q16886|Q86YC5	Silent	SNP	ENST00000255416.4	37	c.1266C>T	CCDS30975.1																																																																																				0.567	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		4	108	0	0	0	1	0	4	108				
ATP6V0A1	535	broad.mit.edu	37	17	40666344	40666344	+	Silent	SNP	C	C	T	rs368275528		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:40666344C>T	ENST00000343619.4	+	21	2409	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	ATP6V0A1_ENST00000544137.1_Silent_p.I408I|ATP6V0A1_ENST00000393829.2_Silent_p.I756I|ATP6V0A1_ENST00000585525.1_Silent_p.I719I|ATP6V0A1_ENST00000264649.6_Silent_p.I763I|MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000537728.1_Silent_p.I713I|ATP6V0A1_ENST00000546249.1_Silent_p.I762I|RP11-400F19.18_ENST00000591237.1_RNA	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	762					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGATCCACATCGGCCTGAGCG	0.557																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(2284-2286)atC>atT		ATPase, H+ transporting, lysosomal V0 subunit a1		C	,,	0,4406		0,0,2203	266.0	246.0	252.0		2289,2286,2268	-9.4	0.5	17		252	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP6V0A1	NM_001130020.1,NM_001130021.1,NM_005177.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	763/839,762/838,756/832	40666344	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40666344C>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2286C>T	17.37:g.40666344C>T						ATP6V0A1_ENST00000544137.1_Silent_p.I408I|ATP6V0A1_ENST00000537728.1_Silent_p.I713I|ATP6V0A1_ENST00000393829.2_Silent_p.I756I|ATP6V0A1_ENST00000264649.6_Silent_p.I763I|ATP6V0A1_ENST00000585525.1_Silent_p.I719I|ATP6V0A1_ENST00000546249.1_Silent_p.I762I	p.I762I	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	21	2409	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	762					B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	c.2286C>T	CCDS45684.1																																																																																				0.557	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		78	111	0	0	0	1	0	78	111				
PHC2	1912	broad.mit.edu	37	1	33796962	33796962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:33796962C>T	ENST00000257118.5	-	11	2043	c.1990G>A	c.(1990-1992)Gct>Act	p.A664T	PHC2_ENST00000373418.3_Missense_Mutation_p.A129T|PHC2_ENST00000373416.1_Missense_Mutation_p.A129T|PHC2_ENST00000373422.3_Missense_Mutation_p.A270T|PHC2_ENST00000419414.2_Missense_Mutation_p.A665T|PHC2_ENST00000431992.1_Missense_Mutation_p.A635T|PHC2_ENST00000485928.1_5'UTR|MIR3605_ENST00000583214.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	664					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTTGCACAAGCCATGGAACAG	0.547																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1990-1992)Gct>Act		polyhomeotic homolog 2 (Drosophila)							104.0	111.0	109.0					1																	33796962		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33796962C>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1990G>A	1.37:g.33796962C>T	ENSP00000257118:p.Ala664Thr					PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.A129T|PHC2_ENST00000373416.1_Missense_Mutation_p.A129T|PHC2_ENST00000373422.3_Missense_Mutation_p.A270T|PHC2_ENST00000419414.2_Missense_Mutation_p.A665T|PHC2_ENST00000431992.1_Missense_Mutation_p.A635T	p.A664T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			11	2043	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	664					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1990G>A	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012743	0.93346	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.85	5.85	0.93711	Zinc finger, FCS-type (1);	0.113194	0.64402	D	0.000010	T	0.26412	0.0645	L	0.33093	0.98	0.43025	D	0.994586	P;P;P;P	0.37731	0.473;0.473;0.473;0.607	B;B;B;B	0.30782	0.056;0.056;0.056;0.12	T	0.07558	-1.0766	10	0.12766	T	0.61	-12.2817	11.0032	0.47618	0.0:0.9162:0.0:0.0838	.	665;636;664;79	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	T	635;664;270;129;242;665;129	ENSP00000389436:A635T;ENSP00000257118:A664T;ENSP00000362521:A270T;ENSP00000362517:A129T;ENSP00000391440:A665T;ENSP00000362515:A129T	ENSP00000257118:A664T	A	-	1	0	PHC2	33569549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.904000	0.48719	2.771000	0.95319	0.561000	0.74099	GCT		0.547	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		6	125	0	0	0	1	0	6	125				
PHGDH	26227	broad.mit.edu	37	1	120277331	120277331	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:120277331G>A	ENST00000369409.4	+	6	721	c.585G>A	c.(583-585)gaG>gaA	p.E195E	PHGDH_ENST00000369407.3_Silent_p.E161E	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	195					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CCCTGGAGGAGATCTGGCCTC	0.547																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(481-483)gaG>gaA		phosphoglycerate dehydrogenase	NADH(DB00157)						191.0	180.0	184.0					1																	120277331		2203	4300	6503	SO:0001819	synonymous_variant	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120277331G>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.585G>A	1.37:g.120277331G>A						PHGDH_ENST00000369409.4_Silent_p.E195E	p.E161E			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	5	1990	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	195					B2RD08|Q5SZU3|Q9BQ01	Silent	SNP	ENST00000369409.4	37	c.483G>A	CCDS904.1																																																																																				0.547	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		52	107	0	0	0	1	0	52	107				
TBXAS1	6916	broad.mit.edu	37	7	139655340	139655340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:139655340C>T	ENST00000336425.5	+	11	1011	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	TBXAS1_ENST00000448866.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000411653.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P255S|TBXAS1_ENST00000263552.6_Missense_Mutation_p.P209S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P254S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P141S|TBXAS1_ENST00000462275.1_3'UTR			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	208					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCCTGAGGATCCCTTTGTGAA	0.577																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(625-627)Ccc>Tcc		thromboxane A synthase 1 (platelet)							79.0	83.0	82.0					7																	139655340		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139655340C>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.622C>T	7.37:g.139655340C>T	ENSP00000338087:p.Pro208Ser					TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P141S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P254S|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P208S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000411653.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P255S	p.P209S	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			11	1163	+	Melanoma(164;0.0142)		208					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.625C>T		.	.	.	.	.	.	.	.	.	.	C	15.32	2.797468	0.50208	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.91	5.91	0.95273	.	0.052861	0.85682	D	0.000000	T	0.82015	0.4945	M	0.88640	2.97	0.80722	D	1	D;D;P;D;D;P;P	0.89917	0.977;0.999;0.599;1.0;0.978;0.624;0.624	D;D;P;D;D;B;B	0.79108	0.951;0.992;0.475;0.986;0.961;0.326;0.326	D	0.83392	0.0018	10	0.49607	T	0.09	.	15.8542	0.78965	0.1361:0.8639:0.0:0.0	.	189;255;160;141;209;209;208	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	S	141;209;208;255;209;209;208;254;208	ENSP00000388736:P141S;ENSP00000263552:P209S;ENSP00000338087:P208S;ENSP00000389414:P255S;ENSP00000392361:P209S;ENSP00000392702:P209S;ENSP00000402536:P208S;ENSP00000411274:P254S;ENSP00000411326:P208S	ENSP00000263552:P209S	P	+	1	0	TBXAS1	139301809	1.000000	0.71417	0.999000	0.59377	0.207000	0.24258	3.264000	0.51553	2.793000	0.96121	0.655000	0.94253	CCC		0.577	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			41	127	0	0	0	1	0	41	127				
OGT	8473	broad.mit.edu	37	X	70779241	70779241	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70779241C>T	ENST00000373719.3	+	13	1944	c.1727C>T	c.(1726-1728)tCt>tTt	p.S576F	OGT_ENST00000373701.3_Missense_Mutation_p.S566F	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	576					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTATGCAGTCTATTCCAGGC	0.398																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1726-1728)tCt>tTt		O-linked N-acetylglucosamine (GlcNAc) transferase							100.0	81.0	87.0					X																	70779241		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70779241C>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1727C>T	X.37:g.70779241C>T	ENSP00000362824:p.Ser576Phe					OGT_ENST00000373701.3_Missense_Mutation_p.S566F	p.S576F	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			13	1944	+	Renal(35;0.156)		576					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1727C>T	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826903	0.90955	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.73789	-0.78;-0.78	5.42	5.42	0.78866	.	0.105121	0.64402	D	0.000002	D	0.89150	0.6633	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.981;0.996;0.999	D	0.91275	0.5047	10	0.72032	D	0.01	.	18.4264	0.90611	0.0:1.0:0.0:0.0	.	450;566;576	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	F	576;566	ENSP00000362824:S576F;ENSP00000362805:S566F	ENSP00000362805:S566F	S	+	2	0	OGT	70695966	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.817000	0.86213	2.293000	0.77203	0.519000	0.50382	TCT		0.398	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		35	56	0	0	0	1	0	35	56				
SLC12A8	84561	broad.mit.edu	37	3	124896611	124896611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:124896611C>T	ENST00000393469.4	-	4	647	c.598G>A	c.(598-600)Ggt>Agt	p.G200S	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.G200S|SLC12A8_ENST00000423114.2_Missense_Mutation_p.G229S	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	200					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GTGAAAGAACCCACCACAAAG	0.527																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(685-687)Ggt>Agt		solute carrier family 12, member 8							60.0	69.0	66.0					3																	124896611		2051	4196	6247	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124896611C>T		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.598G>A	3.37:g.124896611C>T	ENSP00000377112:p.Gly200Ser					SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000393469.4_Missense_Mutation_p.G200S|SLC12A8_ENST00000469902.1_Missense_Mutation_p.G200S	p.G229S			A0AV02	S12A8_HUMAN			5	684	-			200					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.685G>A	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	c	35	5.567196	0.96540	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902	D;D;D	0.98747	-5.11;-5.11;-5.11	5.74	5.74	0.90152	Amino acid permease domain (1);	.	.	.	.	D	0.98943	0.9641	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99811	1.1041	9	0.52906	T	0.07	.	18.1119	0.89538	0.0:1.0:0.0:0.0	.	92;229;200	B5MDT1;A0AV02-2;A0AV02	.;.;S12A8_HUMAN	S	200;229;200	ENSP00000377112:G200S;ENSP00000404243:G229S;ENSP00000418783:G200S	ENSP00000377112:G200S	G	-	1	0	SLC12A8	126379301	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.467000	0.80930	2.715000	0.92844	0.448000	0.29417	GGT		0.527	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		11	17	0	0	0	1	0	11	17				
HNRNPH2	3188	broad.mit.edu	37	X	100668318	100668318	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100668318C>T	ENST00000316594.5	+	2	1420	c.1342C>T	c.(1342-1344)Ctt>Ttt	p.L448F		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	448					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TCAGTCAAACCTTGCTTAGGT	0.438																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(1342-1344)Ctt>Ttt		heterogeneous nuclear ribonucleoprotein H2 (H')							140.0	135.0	137.0					X																	100668318		2181	4284	6465	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100668318C>T	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1342C>T	X.37:g.100668318C>T	ENSP00000361927:p.Leu448Phe						p.L448F	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	1420	+			448					A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.1342C>T	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	C	7.870	0.727886	0.15507	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.11385	2.78	4.34	3.4	0.38934	.	0.396612	0.24583	N	0.037285	T	0.04588	0.0125	N	0.08118	0	0.27942	N	0.937493	B	0.26635	0.155	B	0.20384	0.029	T	0.17258	-1.0375	10	0.59425	D	0.04	-13.3744	4.1025	0.10020	0.2312:0.6461:0.0:0.1227	.	448	P55795	HNRH2_HUMAN	F	403;448	ENSP00000361927:L448F	ENSP00000361927:L448F	L	+	1	0	HNRNPH2	100554974	0.999000	0.42202	0.997000	0.53966	0.997000	0.91878	1.071000	0.30666	2.143000	0.66587	0.513000	0.50165	CTT		0.438	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		61	126	0	0	0	1	0	61	126				
RAI14	26064	broad.mit.edu	37	5	34826434	34826434	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:34826434G>A	ENST00000265109.3	+	16	2936		c.e16-1		RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTGCCCCTAGATAAATGAGA	0.423																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e16-1		retinoic acid induced 14							68.0	70.0	69.0					5																	34826434		2203	4300	6503	SO:0001630	splice_region_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34826434G>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2650-1G>A	5.37:g.34826434G>A						RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000506376.1_Splice_Site		NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			16	2936	+	all_lung(31;0.000191)							E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Splice_Site	SNP	ENST00000265109.3	37		CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138584	0.37728	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9511	0.92641	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAI14	34862191	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	9.420000	0.97426	2.560000	0.86352	0.561000	0.74099	.		0.423	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	Intron	17	42	0	0	0	1	0	17	42				
TACR1	6869	broad.mit.edu	37	2	75278435	75278435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:75278435C>T	ENST00000305249.5	-	4	1640	c.875G>A	c.(874-876)tGg>tAg	p.W292*	TACR1_ENST00000409848.3_Nonsense_Mutation_p.W292*	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	292					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CATGGCCAGCCACATGATGGC	0.547																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(874-876)tGg>tAg		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						208.0	186.0	194.0					2																	75278435		2203	4300	6503	SO:0001587	stop_gained	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75278435C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.875G>A	2.37:g.75278435C>T	ENSP00000303522:p.Trp292*					TACR1_ENST00000409848.3_Nonsense_Mutation_p.W292*	p.W292*	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			4	1640	-			292					A8K150	Nonsense_Mutation	SNP	ENST00000305249.5	37	c.875G>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	43	10.330626	0.99384	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0229	0.86438	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000303522:W292X	W	-	2	0	TACR1	75131943	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.852000	0.69488	2.880000	0.98712	0.650000	0.86243	TGG		0.547	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		32	75	0	0	0	1	0	32	75				
SNRPN	6638	broad.mit.edu	37	15	25223031	25223031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:25223031C>T	ENST00000400100.1	+	11	1417	c.527C>T	c.(526-528)cCc>cTc	p.P176L	SNRPN_ENST00000400097.1_Missense_Mutation_p.P176L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P176L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P176L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.P180L|SNRPN_ENST00000444203.2_Missense_Mutation_p.P180L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P176L|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400098.1_Missense_Mutation_p.P176L|SNHG14_ENST00000551631.2_RNA	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	176	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGCACTCCGCCCCCACCCGTC	0.562									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(538-540)cCc>cTc		small nuclear ribonucleoprotein polypeptide N							28.0	30.0	29.0					15																	25223031		1932	4143	6075	SO:0001583	missense	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223031C>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.527C>T	15.37:g.25223031C>T	ENSP00000382972:p.Pro176Leu					SNRPN_ENST00000346403.6_Missense_Mutation_p.P176L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P176L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P176L|SNRPN_ENST00000554227.2_Missense_Mutation_p.P180L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P176L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P176L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.P176L	p.P180L			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	6	1578	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	176			Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.539C>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	8.308	0.821414	0.16678	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.48836	0.81;0.81;0.81;0.8;0.81;0.8	3.94	3.03	0.35002	.	0.112447	0.64402	D	0.000007	T	0.44519	0.1297	M	0.66939	2.045	0.25067	N	0.99102	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48885	-0.8995	10	0.87932	D	0	-1.6645	10.1287	0.42665	0.0:0.8987:0.0:0.1013	.	180;176	B3KVR1;P63162	.;RSMN_HUMAN	L	176;176;176;180;176;180;35	ENSP00000382972:P176L;ENSP00000382970:P176L;ENSP00000382969:P176L;ENSP00000452342:P180L;ENSP00000375105:P176L;ENSP00000408767:P180L	ENSP00000306223:P35L	P	+	2	0	SNRPN;SNURF	22774124	1.000000	0.71417	0.001000	0.08648	0.018000	0.09664	6.576000	0.74023	1.242000	0.43836	-0.224000	0.12420	CCC		0.562	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		8	26	0	0	0	1	0	8	26				
QSER1	79832	broad.mit.edu	37	11	32955773	32955773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:32955773C>T	ENST00000399302.2	+	4	2917	c.2582C>T	c.(2581-2583)gCt>gTt	p.A861V	QSER1_ENST00000527788.1_Missense_Mutation_p.A622V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	861										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACAGCAGCAGCTTGTGGAGTT	0.383																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(2581-2583)gCt>gTt		glutamine and serine rich 1							94.0	90.0	92.0					11																	32955773		1893	4113	6006	SO:0001583	missense	79832							g.chr11:32955773C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2582C>T	11.37:g.32955773C>T	ENSP00000382241:p.Ala861Val					QSER1_ENST00000527788.1_Missense_Mutation_p.A622V	p.A861V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	2917	+	Breast(20;0.158)		861					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.2582C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226131	0.79576	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.37411	1.53;1.2	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000007	T	0.61198	0.2328	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.63189	-0.6693	10	0.66056	D	0.02	.	17.5776	0.87955	0.0:1.0:0.0:0.0	.	622;622;861	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	V	861;622;622	ENSP00000382241:A861V;ENSP00000432766:A622V	ENSP00000078652:A622V	A	+	2	0	QSER1	32912349	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.175000	0.77632	2.605000	0.88082	0.561000	0.74099	GCT		0.383	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		38	131	0	0	0	1	0	38	131				
ZNF44	51710	broad.mit.edu	37	19	12383317	12383317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12383317C>T	ENST00000356109.5	-	5	2015	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	ZNF44_ENST00000355684.5_Missense_Mutation_p.E585K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TAGGGCTTCTCTCCAGTGTGA	0.413																																						ENST00000356109.5																			0				ovary(1)	1						c.(1897-1899)Gag>Aag		zinc finger protein 44							52.0	55.0	54.0					19																	12383317		2203	4300	6503	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383317C>T	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.1897G>A	19.37:g.12383317C>T	ENSP00000348419:p.Glu633Lys					ZNF44_ENST00000355684.5_Missense_Mutation_p.E585K	p.E633K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	2015	-		Renal(1328;0.157)	633					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1897G>A	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473332	0.84640	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.24350	2.12;1.86;1.86	0.997	-0.219	0.13135	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42337	0.1198	M	0.66439	2.03	.	.	.	D;D	0.69078	0.997;0.997	D;D	0.74674	0.97;0.984	T	0.51710	-0.8671	8	0.72032	D	0.01	.	7.202	0.25887	0.2679:0.7321:0.0:0.0	.	633;585	P15621;F8W7T7	ZNF44_HUMAN;.	K	633;633;585;585	ENSP00000377008:E633K;ENSP00000348419:E633K;ENSP00000347910:E585K	ENSP00000347910:E585K	E	-	1	0	ZNF44	12244317	0.062000	0.20869	0.041000	0.18516	0.978000	0.69477	2.626000	0.46460	-0.015000	0.14150	0.305000	0.20034	GAG		0.413	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		5	59	0	0	0	1	0	5	59				
C5orf42	65250	broad.mit.edu	37	5	37170386	37170386	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:37170386G>A	ENST00000508244.1	-	32	6312	c.6219C>T	c.(6217-6219)tcC>tcT	p.S2073S	C5orf42_ENST00000425232.2_Silent_p.S2073S|C5orf42_ENST00000274258.7_Silent_p.S953S			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2073						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GATTAGCAAAGGATGATCCTA	0.368																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(2857-2859)tcC>tcT		chromosome 5 open reading frame 42							145.0	142.0	143.0					5																	37170386		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37170386G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6219C>T	5.37:g.37170386G>A						C5orf42_ENST00000425232.2_Silent_p.S2073S|C5orf42_ENST00000508244.1_Silent_p.S2073S	p.S953S			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		33	6446	-	all_lung(31;0.000616)		2073					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.2859C>T	CCDS34146.2																																																																																				0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		12	101	0	0	0	1	0	12	101				
CACNG2	10369	broad.mit.edu	37	22	36962479	36962479	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:36962479G>A	ENST00000300105.6	-	3	1338	c.357C>T	c.(355-357)ggC>ggT	p.G119G		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	119					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGATGCAGAGGCCACCCATGA	0.542																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(355-357)ggC>ggT		calcium channel, voltage-dependent, gamma subunit 2							94.0	87.0	89.0					22																	36962479		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36962479G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.357C>T	22.37:g.36962479G>A							p.G119G	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			3	1338	-			119					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.357C>T	CCDS13931.1																																																																																				0.542	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			26	31	0	0	0	1	0	26	31				
TSLP	85480	broad.mit.edu	37	5	110407444	110407444	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:110407444G>A	ENST00000344895.3	+	0	55				TSLP_ENST00000379706.4_5'Flank|TSLP_ENST00000420978.2_Intron	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin							extracellular space (GO:0005615)				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAACAGCATGGGTGAATAAGG	0.522																																						ENST00000344895.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11								thymic stromal lymphopoietin																																						85480					extracellular space	cytokine activity	g.chr5:110407444G>A	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791		5.37:g.110407444G>A						TSLP_ENST00000420978.2_Intron		NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	0	55	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)						Q8IW99	Translation_Start_Site	SNP	ENST00000344895.3	37		CCDS4101.1																																																																																				0.522	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		3	12	0	0	0	1	0	3	12				
TP53	7157	broad.mit.edu	37	17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C	rs587783063		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579362A>C	ENST00000269305.4	-	4	514	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_ENST00000420246.2_Missense_Mutation_p.F109V|TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V	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	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(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)	CCCAGACGGAAACCGTAGCTG	0.612		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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		31	Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(3)|Complex - deletion inframe(2)|Substitution - Missense(1)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(1)	ovary(6)|upper_aerodigestive_tract(5)|bone(4)|breast(4)|lung(3)|large_intestine(2)|central_nervous_system(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(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						c.(325-327)Ttc>Gtc	Other conserved DNA damage response genes	tumor protein p53							62.0	59.0	60.0					17																	7579362		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579362A>C	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.325T>G	17.37:g.7579362A>C	ENSP00000269305:p.Phe109Val	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)				TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V|TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000269305.4_Missense_Mutation_p.F109V	p.F109V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	457	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	109		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		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	c.325T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768678	0.69878	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99842	-7.1;-7.1;-7.1;-7.1;-7.1;-7.1;-7.1;-7.1	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);	0.104685	0.64402	D	0.000004	D	0.99796	0.9913	M	0.90977	3.165	0.44247	D	0.997097	D;D;D;D;D;D;D	0.89917	1.0;0.988;0.999;0.999;0.999;0.992;0.998	D;D;D;D;D;D;D	0.97110	1.0;0.914;0.994;0.997;0.996;0.994;0.974	D	0.97852	1.0275	10	0.87932	D	0	-31.6488	7.201	0.25881	0.9017:0.0:0.0983:0.0	.	70;109;109;109;109;109;109	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	109	ENSP00000410739:F109V;ENSP00000352610:F109V;ENSP00000269305:F109V;ENSP00000398846:F109V;ENSP00000391127:F109V;ENSP00000391478:F109V;ENSP00000424104:F109V;ENSP00000426252:F109V	ENSP00000269305:F109V	F	-	1	0	TP53	7520087	1.000000	0.71417	0.861000	0.33841	0.921000	0.55340	4.618000	0.61211	2.125000	0.65367	0.533000	0.62120	TTC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		62	9	0	0	0	1	0	62	9				
KRT14	3861	broad.mit.edu	37	17	39740583	39740583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39740583C>T	ENST00000167586.6	-	3	777	c.691G>A	c.(691-693)Gcc>Acc	p.A231T		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	231	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCAGCTCTGGCCAGGGTCAGT	0.547																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(691-693)Gcc>Acc		keratin 14							106.0	109.0	108.0					17																	39740583		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740583C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.691G>A	17.37:g.39740583C>T	ENSP00000167586:p.Ala231Thr						p.A231T	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			3	777	-		Breast(137;0.000307)	231			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.691G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410913	0.62399	.	.	ENSG00000186847	ENST00000167586	T	0.77750	-1.12	5.56	1.09	0.20402	Prefoldin (1);Filament (1);	0.121343	0.36854	N	0.002365	T	0.67230	0.2871	L	0.31845	0.965	0.28949	N	0.890512	B	0.28128	0.201	B	0.38056	0.264	T	0.61317	-0.7087	10	0.42905	T	0.14	.	6.7729	0.23604	0.4782:0.3922:0.0:0.1296	.	231	P02533	K1C14_HUMAN	T	231	ENSP00000167586:A231T	ENSP00000167586:A231T	A	-	1	0	KRT14	36994109	0.001000	0.12720	1.000000	0.80357	0.980000	0.70556	-0.626000	0.05527	0.794000	0.33899	-0.181000	0.13052	GCC		0.547	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		4	153	0	0	0	1	0	4	153				
FRYL	285527	broad.mit.edu	37	4	48533206	48533206	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:48533206C>T	ENST00000503238.1	-	47	6869	c.6870G>A	c.(6868-6870)ggG>ggA	p.G2290G	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.G2290G|FRYL_ENST00000358350.4_Silent_p.G2290G|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTAAGGTCTTCCCAGGCAACT	0.338																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6868-6870)ggG>ggA		FRY-like							53.0	52.0	53.0					4																	48533206		1800	4062	5862	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48533206C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6870G>A	4.37:g.48533206C>T						FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Silent_p.G2290G|FRYL_ENST00000503238.1_Silent_p.G2290G	p.G2290G			O94915	FRYL_HUMAN			50	7474	-			2290					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.6870G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	8.297	0.819101	0.16607	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.25	3.13	0.36017	.	.	.	.	.	T	0.58779	0.2146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55302	-0.8162	4	.	.	.	.	9.3607	0.38195	0.0:0.6181:0.2598:0.1221	.	.	.	.	K	1160	.	.	E	-	1	0	FRYL	48227963	0.675000	0.27558	1.000000	0.80357	0.995000	0.86356	-0.198000	0.09505	1.186000	0.42985	0.491000	0.48974	GAA		0.338	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			31	64	0	0	0	1	0	31	64				
SYCP2	10388	broad.mit.edu	37	20	58486891	58486891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:58486891G>A	ENST00000357552.3	-	14	1111	c.886C>T	c.(886-888)Cca>Tca	p.P296S	SYCP2_ENST00000371001.2_Missense_Mutation_p.P296S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	296					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCATCTGATGGTATTTGCAGC	0.289																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(886-888)Cca>Tca		synaptonemal complex protein 2							34.0	34.0	34.0					20																	58486891		2199	4285	6484	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58486891G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.886C>T	20.37:g.58486891G>A	ENSP00000350162:p.Pro296Ser					SYCP2_ENST00000371001.2_Missense_Mutation_p.P296S	p.P296S			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		14	1111	-	all_lung(29;0.00344)		296					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.886C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824095	0.90873	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.62788	0.17;0.17;-0.0	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000002	T	0.81602	0.4857	M	0.81802	2.56	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83086	-0.0135	10	0.87932	D	0	-17.8247	19.961	0.97250	0.0:0.0:1.0:0.0	.	296;296	A2A341;Q9BX26	.;SYCP2_HUMAN	S	296	ENSP00000360040:P296S;ENSP00000350162:P296S;ENSP00000402456:P296S	ENSP00000350162:P296S	P	-	1	0	SYCP2	57920286	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.646000	0.98474	2.783000	0.95769	0.655000	0.94253	CCA		0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		4	47	0	0	0	1	0	4	47				
ZNF234	10780	broad.mit.edu	37	19	44662036	44662036	+	Missense_Mutation	SNP	C	C	T	rs374740687		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44662036C>T	ENST00000426739.2	+	6	2125	c.1867C>T	c.(1867-1869)Cca>Tca	p.P623S	ZNF234_ENST00000592437.1_Missense_Mutation_p.P623S	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGGAGAGAAACCATACAAATG	0.448																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1867-1869)Cca>Tca		zinc finger protein 234							135.0	144.0	141.0					19																	44662036		2196	4297	6493	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44662036C>T	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1867C>T	19.37:g.44662036C>T	ENSP00000400878:p.Pro623Ser					ZNF234_ENST00000592437.1_Missense_Mutation_p.P623S	p.P623S	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	2125	+		Prostate(69;0.0435)	623					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1867C>T	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982946	0.74474	.	.	ENSG00000167380	ENST00000426739	T	0.16743	2.32	3.92	3.92	0.45320	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38161	0.1030	L	0.58669	1.825	0.35960	D	0.834555	D	0.89917	1.0	D	0.91635	0.999	T	0.51679	-0.8675	9	0.87932	D	0	.	15.2165	0.73270	0.0:1.0:0.0:0.0	.	623	Q14588	ZN234_HUMAN	S	623	ENSP00000400878:P623S	ENSP00000400878:P623S	P	+	1	0	ZNF226	49353876	0.377000	0.25106	0.830000	0.32933	0.870000	0.49936	2.105000	0.41825	2.162000	0.67917	0.585000	0.79938	CCA		0.448	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			42	71	0	0	0	1	0	42	71				
FAM83C	128876	broad.mit.edu	37	20	33876755	33876755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33876755C>T	ENST00000374408.3	-	2	616	c.520G>A	c.(520-522)Gct>Act	p.A174T		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	174										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATCACCACAGCCACCACCTGG	0.622																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(520-522)Gct>Act		family with sequence similarity 83, member C							75.0	67.0	70.0					20																	33876755		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33876755C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.520G>A	20.37:g.33876755C>T	ENSP00000363529:p.Ala174Thr						p.A174T	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	616	-			174					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.520G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.579077	0.65878	.	.	ENSG00000125998	ENST00000374408	T	0.23147	1.92	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64871	-0.6305	10	0.87932	D	0	-7.1586	16.3307	0.83010	0.0:1.0:0.0:0.0	.	174	Q9BQN1	FA83C_HUMAN	T	174	ENSP00000363529:A174T	ENSP00000363529:A174T	A	-	1	0	FAM83C	33340169	1.000000	0.71417	0.978000	0.43139	0.013000	0.08279	7.597000	0.82733	2.404000	0.81709	0.591000	0.81541	GCT		0.622	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			26	46	0	0	0	1	0	26	46				
IGF2R	3482	broad.mit.edu	37	6	160501242	160501242	+	Missense_Mutation	SNP	C	C	T	rs368781979		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160501242C>T	ENST00000356956.1	+	39	5916	c.5768C>T	c.(5767-5769)gCg>gTg	p.A1923V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1923	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				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)			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)	GAGAGCAGGGCGAAGCTGTGG	0.557																																						ENST00000356956.1																			0				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						c.(5767-5769)gCg>gTg		insulin-like growth factor 2 receptor		C	VAL/ALA	0,4406		0,0,2203	130.0	116.0	121.0		5768	4.8	0.0	6		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2R	NM_000876.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1923/2492	160501242	1,13005	2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160501242C>T	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.5768C>T	6.37:g.160501242C>T	ENSP00000349437:p.Ala1923Val						p.A1923V	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	39	5916	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1923			Fibronectin type-II.		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5768C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	8.172	0.791869	0.16258	0.0	1.16E-4	ENSG00000197081	ENST00000356956	T	0.50548	0.74	5.63	4.77	0.60923	Mannose-6-phosphate receptor, binding (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.593695	0.17810	N	0.161239	T	0.18800	0.0451	L	0.41710	1.295	0.09310	N	1	B	0.20671	0.047	B	0.08055	0.003	T	0.09314	-1.0680	10	0.46703	T	0.11	-6.6753	8.0398	0.30515	0.1949:0.7243:0.0:0.0808	.	1923	P11717	MPRI_HUMAN	V	1923	ENSP00000349437:A1923V	ENSP00000349437:A1923V	A	+	2	0	IGF2R	160421232	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	1.355000	0.34068	1.519000	0.48950	0.561000	0.74099	GCG		0.557	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		28	49	0	0	0	1	0	28	49				
CTNND2	1501	broad.mit.edu	37	5	11117666	11117666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:11117666C>T	ENST00000304623.8	-	13	2362	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T	CTNND2_ENST00000511377.1_Missense_Mutation_p.A634T|CTNND2_ENST00000503622.1_Missense_Mutation_p.A388T|CTNND2_ENST00000458100.2_Missense_Mutation_p.A292T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A725T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	725				A -> P (in Ref. 1; AAC63103). {ECO:0000305}.	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)				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						TCCTCTCCGGCCGAACTAACA	0.522																																						ENST00000304623.8																			0				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						c.(2173-2175)Gcc>Acc		catenin (cadherin-associated protein), delta 2							143.0	112.0	122.0					5																	11117666		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11117666C>T	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.2173G>A	5.37:g.11117666C>T	ENSP00000307134:p.Ala725Thr					CTNND2_ENST00000511377.1_Missense_Mutation_p.A634T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A725T|CTNND2_ENST00000458100.2_Missense_Mutation_p.A292T|CTNND2_ENST00000503622.1_Missense_Mutation_p.A388T	p.A725T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			13	2362	-			725	A -> P (in Ref. 1; AAC63103).				B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2173G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465275	0.96257	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88325	0.6406	M	0.78801	2.425	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;P	0.72338	0.977;0.977;0.902	D	0.86933	0.2074	10	0.39692	T	0.17	-16.1941	19.6126	0.95616	0.0:1.0:0.0:0.0	.	388;292;725	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	T	725;725;634;292;388	ENSP00000307134:A725T;ENSP00000352661:A725T;ENSP00000426510:A634T;ENSP00000391155:A292T;ENSP00000426887:A388T	ENSP00000307134:A725T	A	-	1	0	CTNND2	11170666	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	7.376000	0.79658	2.647000	0.89833	0.650000	0.86243	GCC		0.522	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		26	45	0	0	0	1	0	26	45				
ZMYND8	23613	broad.mit.edu	37	20	45875015	45875015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:45875015G>A	ENST00000311275.7	-	14	2214	c.1961C>T	c.(1960-1962)gCc>gTc	p.A654V	ZMYND8_ENST00000461685.1_Missense_Mutation_p.A674V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A649V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A654V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A681V|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A602V|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A674V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A591V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A649V|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A674V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A649V|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A654V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A654V	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	654					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTTCTCGCTGGCTGGTGACGT	0.507																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1960-1962)gCc>gTc		zinc finger, MYND-type containing 8							242.0	228.0	233.0					20																	45875015		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45875015G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1961C>T	20.37:g.45875015G>A	ENSP00000312237:p.Ala654Val					ZMYND8_ENST00000540497.1_Missense_Mutation_p.A602V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A654V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A649V|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A649V|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A674V|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A674V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A591V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A649V|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A674V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A654V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A681V|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A654V	p.A654V			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2214	-			654					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1961C>T		.	.	.	.	.	.	.	.	.	.	G	2.086	-0.409441	0.04799	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;D;D;D;D;D;D;D;D;D	0.90504	-1.82;-1.7;-1.83;-1.71;-1.81;-1.71;-1.71;-2.68;-1.72;-1.83;-1.85	5.91	3.63	0.41609	.	1.115670	0.06542	N	0.743296	D	0.83663	0.5303	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20671	0.047;0.001;0.0;0.0;0.001;0.001;0.001;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17722	0.019;0.007;0.003;0.001;0.002;0.009;0.004;0.007;0.004;0.004;0.007;0.005;0.003;0.003;0.003;0.001;0.002;0.003	T	0.67964	-0.5534	10	0.21540	T	0.41	-10.7039	6.642	0.22914	0.1924:0.0:0.6641:0.1435	.	649;681;649;649;629;648;674;654;649;674;674;654;591;649;602;674;602;654	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	V	649;654;649;655;675;674;654;681;654;591;674;649;602	ENSP00000354166:A649V;ENSP00000312237:A654V;ENSP00000392964:A649V;ENSP00000335537:A674V;ENSP00000379577:A654V;ENSP00000439800:A681V;ENSP00000348246:A654V;ENSP00000396725:A591V;ENSP00000418210:A674V;ENSP00000361093:A649V;ENSP00000443086:A602V	ENSP00000262975:A655V	A	-	2	0	ZMYND8	45308422	0.006000	0.16342	0.000000	0.03702	0.019000	0.09904	0.903000	0.28475	0.575000	0.29434	0.655000	0.94253	GCC		0.507	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		76	130	0	0	0	1	0	76	130				
PDIA5	10954	broad.mit.edu	37	3	122811272	122811272	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:122811272C>T	ENST00000316218.7	+	3	335	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	80					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AAGGGACCATCTGCTGGGTGG	0.527																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(238-240)atC>atT		protein disulfide isomerase family A, member 5							122.0	112.0	115.0					3																	122811272		2203	4300	6503	SO:0001819	synonymous_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122811272C>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.240C>T	3.37:g.122811272C>T							p.I80I	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	3	335	+			80					D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	c.240C>T	CCDS3020.1																																																																																				0.527	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		14	30	0	0	0	1	0	14	30				
RASGRP1	10125	broad.mit.edu	37	15	38793470	38793470	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:38793470C>T	ENST00000310803.5	-	13	1734	c.1557G>A	c.(1555-1557)agG>agA	p.R519R	RASGRP1_ENST00000558164.1_Silent_p.R484R|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000450598.2_Silent_p.R484R|RASGRP1_ENST00000559830.1_Silent_p.R484R|RASGRP1_ENST00000539159.1_Silent_p.R471R|RASGRP1_ENST00000561180.1_Silent_p.R570R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	519	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGATCTCATCCCTGCTGATGA	0.547																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1555-1557)agG>agA		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							88.0	87.0	87.0					15																	38793470		1970	4160	6130	SO:0001819	synonymous_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38793470C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1557G>A	15.37:g.38793470C>T						RASGRP1_ENST00000450598.2_Silent_p.R484R|RASGRP1_ENST00000561180.1_Silent_p.R570R|RASGRP1_ENST00000558164.1_Silent_p.R484R|RASGRP1_ENST00000539159.1_Silent_p.R471R|RASGRP1_ENST00000559830.1_Silent_p.R484R	p.R519R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	13	1734	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	519			EF-hand 2.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	c.1557G>A	CCDS45222.1																																																																																				0.547	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		22	39	0	0	0	1	0	22	39				
MKL2	57496	broad.mit.edu	37	16	14340939	14340939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:14340939G>A	ENST00000341243.5	+	10	1789	c.1789G>A	c.(1789-1791)Ggg>Agg	p.G597R	MKL2_ENST00000318282.5_Missense_Mutation_p.G608R|MKL2_ENST00000574045.1_Missense_Mutation_p.G608R|MKL2_ENST00000571589.1_Missense_Mutation_p.G608R			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	597					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAAACGAGGGCAGCAGCA	0.527																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1822-1824)Ggg>Agg		MKL/myocardin-like 2							36.0	39.0	38.0					16																	14340939		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340939G>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1789G>A	16.37:g.14340939G>A	ENSP00000345841:p.Gly597Arg					MKL2_ENST00000318282.5_Missense_Mutation_p.G608R|MKL2_ENST00000341243.5_Missense_Mutation_p.G597R|MKL2_ENST00000574045.1_Missense_Mutation_p.G608R	p.G608R	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	1994	+			597					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.1822G>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.073616	0.76415	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.83	3.88	0.44766	.	0.276731	0.40302	N	0.001133	T	0.63534	0.2519	M	0.67953	2.075	0.31712	N	0.639419	B;P	0.49783	0.006;0.928	B;P	0.56042	0.003;0.79	T	0.70673	-0.4807	9	0.59425	D	0.04	-10.7013	11.7462	0.51821	0.1428:0.0:0.8572:0.0	.	608;608	B4DGT8;Q9ULH7-4	.;.	R	608;597	.	ENSP00000339086:G608R	G	+	1	0	MKL2	14248440	0.996000	0.38824	0.930000	0.37139	0.984000	0.73092	1.692000	0.37731	0.809000	0.34255	0.655000	0.94253	GGG		0.527	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		18	22	0	0	0	1	0	18	22				
PXDN	7837	broad.mit.edu	37	2	1643195	1643195	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:1643195C>T	ENST00000252804.4	-	20	4003		c.e20-1			NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)						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)			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)		GTCCTACAGTCTAAAATGGAA	0.507																																						ENST00000252804.4																			0				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						c.e20-1		peroxidasin homolog (Drosophila)							99.0	98.0	99.0					2																	1643195		1989	4175	6164	SO:0001630	splice_region_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1643195C>T	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.3953-1G>A	2.37:g.1643195C>T								NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	20	4003	-	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)						A8QM65|D6W4Y0|Q4KMG2	Splice_Site	SNP	ENST00000252804.4	37		CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264186	0.80358	.	.	ENSG00000130508	ENST00000252804	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6721	0.95915	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PXDN	1622202	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.735000	0.84939	2.657000	0.90304	0.467000	0.42956	.		0.507	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	Intron	23	39	0	0	0	1	0	23	39				
COL20A1	57642	broad.mit.edu	37	20	61959728	61959728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:61959728C>T	ENST00000358894.6	+	34	3759	c.3659C>T	c.(3658-3660)cCc>cTc	p.P1220L	COL20A1_ENST00000326996.6_Missense_Mutation_p.P1252L|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1233L|COL20A1_ENST00000422202.1_Missense_Mutation_p.P1233L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1220					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACCAGGCCCCCCATGCCCATC	0.667																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3697-3699)cCc>cTc		collagen, type XX, alpha 1							30.0	34.0	33.0					20																	61959728		2000	4138	6138	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61959728C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3659C>T	20.37:g.61959728C>T	ENSP00000351767:p.Pro1220Leu					COL20A1_ENST00000326996.6_Missense_Mutation_p.P1252L|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1233L|COL20A1_ENST00000358894.6_Missense_Mutation_p.P1220L	p.P1233L			Q9P218	COKA1_HUMAN			33	3766	+	all_cancers(38;1.39e-10)		1220					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3698C>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472126	0.43942	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.91521	-2.18;-2.24;-2.13;-2.13;-2.86;-2.72	4.01	4.01	0.46588	.	0.264468	0.29328	N	0.012477	D	0.91556	0.7333	L	0.34521	1.04	0.47778	D	0.999517	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.91513	0.5228	10	0.54805	T	0.06	.	11.6481	0.51273	0.0:1.0:0.0:0.0	.	1233;1220	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	1220;1252;1233;1233;361;216	ENSP00000351767:P1220L;ENSP00000323077:P1252L;ENSP00000408690:P1233L;ENSP00000414753:P1233L;ENSP00000410799:P361L;ENSP00000406345:P216L	ENSP00000323077:P1252L	P	+	2	0	COL20A1	61430172	0.001000	0.12720	0.872000	0.34217	0.111000	0.19643	0.022000	0.13511	1.789000	0.52484	0.313000	0.20887	CCC		0.667	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		6	15	0	0	0	1	0	6	15				
PCDHB14	56122	broad.mit.edu	37	5	140603129	140603129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140603129C>T	ENST00000239449.4	+	1	52	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	18					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTAATATTCCTTGTTTTGCT	0.458																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(52-54)Ctt>Ttt									108.0	106.0	107.0					5																	140603129		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603129C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.52C>T	5.37:g.140603129C>T	ENSP00000239449:p.Leu18Phe					PCDHB14_ENST00000515856.2_Intron	p.L18F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	52	+			18					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.52C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	0.081	-1.183538	0.01620	.	.	ENSG00000120327	ENST00000239449	T	0.56103	0.48	4.93	2.14	0.27477	.	.	.	.	.	T	0.14787	0.0357	N	0.00869	-1.13	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29119	-1.0022	9	0.02654	T	1	.	3.8576	0.08982	0.1853:0.1029:0.0:0.7119	.	18	Q9Y5E9	PCDBE_HUMAN	F	18	ENSP00000239449:L18F	ENSP00000239449:L18F	L	+	1	0	PCDHB14	140583313	0.032000	0.19561	1.000000	0.80357	0.797000	0.45037	-0.112000	0.10791	0.822000	0.34565	-0.290000	0.09829	CTT		0.458	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		4	56	0	0	0	1	0	4	56				
PPP1R9A	55607	broad.mit.edu	37	7	94539503	94539503	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:94539503G>A	ENST00000433881.1	+	2	610	c.78G>A	c.(76-78)gaG>gaA	p.E26E	PPP1R9A_ENST00000433360.1_Silent_p.E26E|PPP1R9A_ENST00000340694.4_Silent_p.E26E|PPP1R9A_ENST00000424654.1_Silent_p.E26E|PPP1R9A_ENST00000289495.5_Silent_p.E26E|PPP1R9A_ENST00000456331.2_Silent_p.E26E			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	26	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATCGAACTGAGTTTCAGGCAC	0.468										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(76-78)gaG>gaA		protein phosphatase 1, regulatory subunit 9A							54.0	54.0	54.0					7																	94539503		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539503G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.78G>A	7.37:g.94539503G>A		HNSCC(28;0.073)				PPP1R9A_ENST00000456331.2_Silent_p.E26E|PPP1R9A_ENST00000433881.1_Silent_p.E26E|PPP1R9A_ENST00000433360.1_Silent_p.E26E|PPP1R9A_ENST00000424654.1_Silent_p.E26E|PPP1R9A_ENST00000340694.4_Silent_p.E26E	p.E26E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	294	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		26			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.78G>A	CCDS34683.1																																																																																				0.468	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		12	49	0	0	0	1	0	12	49				
OPN4	94233	broad.mit.edu	37	10	88419205	88419205	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:88419205G>A	ENST00000241891.5	+	5	947	c.780G>A	c.(778-780)agG>agA	p.R260R	OPN4_ENST00000372071.2_Silent_p.R271R	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	260					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TCATCTTCAGGGCCATCCGGG	0.632																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(811-813)agG>agA		opsin 4							180.0	132.0	149.0					10																	88419205		2203	4300	6503	SO:0001819	synonymous_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419205G>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.780G>A	10.37:g.88419205G>A						OPN4_ENST00000241891.5_Silent_p.R260R	p.R271R	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			6	1040	+			260					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	c.813G>A	CCDS7376.1																																																																																				0.632	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		10	12	0	0	0	1	0	10	12				
IGDCC4	57722	broad.mit.edu	37	15	65681686	65681686	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:65681686C>T	ENST00000352385.2	-	14	2681	c.2472G>A	c.(2470-2472)caG>caA	p.Q824Q		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	824	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CGCCGTGAGACTGCACTGCAA	0.572																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2470-2472)caG>caA		immunoglobulin superfamily, DCC subclass, member 4							135.0	99.0	111.0					15																	65681686		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65681686C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2472G>A	15.37:g.65681686C>T							p.Q824Q	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			14	2681	-			824			Fibronectin type-III 4.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.2472G>A	CCDS10206.1																																																																																				0.572	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		9	34	0	0	0	1	0	9	34				
F9	2158	broad.mit.edu	37	X	138643815	138643815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:138643815C>T	ENST00000218099.2	+	8	978	c.971C>T	c.(970-972)cCc>cTc	p.P324L	F9_ENST00000394090.2_Missense_Mutation_p.P286L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	324	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CTGGACGAACCCTTAGTGCTA	0.423																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM045764	F9	M		c.(970-972)cCc>cTc		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						218.0	183.0	195.0					X																	138643815		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643815C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.971C>T	X.37:g.138643815C>T	ENSP00000218099:p.Pro324Leu					F9_ENST00000394090.2_Missense_Mutation_p.P286L	p.P324L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			8	978	+	Acute lymphoblastic leukemia(192;0.000127)		324			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.971C>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066062	0.76187	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.94897	-3.55;-3.55	5.66	5.66	0.87406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98678	1.0691	10	0.87932	D	0	.	17.5372	0.87835	0.0:1.0:0.0:0.0	.	286;324	Q5FBE1;P00740	.;FA9_HUMAN	L	324;286	ENSP00000218099:P324L;ENSP00000377650:P286L	ENSP00000218099:P324L	P	+	2	0	F9	138471481	1.000000	0.71417	0.334000	0.25495	0.716000	0.41182	5.746000	0.68681	2.356000	0.79943	0.600000	0.82982	CCC		0.423	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			37	86	0	0	0	1	0	37	86				
KCNH6	81033	broad.mit.edu	37	17	61623169	61623169	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61623169C>T	ENST00000583023.1	+	14	2902	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F	KCNH6_ENST00000581784.1_Missense_Mutation_p.S875F|KCNH6_ENST00000314672.5_Missense_Mutation_p.S928F|KCNH6_ENST00000456941.2_Missense_Mutation_p.S875F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	964					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCCTGCTTCTCCTCCCTCCCT	0.577																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2890-2892)tCc>tTc		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						123.0	113.0	116.0					17																	61623169		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61623169C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2891C>T	17.37:g.61623169C>T	ENSP00000463533:p.Ser964Phe					KCNH6_ENST00000581784.1_Missense_Mutation_p.S875F|KCNH6_ENST00000314672.5_Missense_Mutation_p.S928F|KCNH6_ENST00000456941.2_Missense_Mutation_p.S875F	p.S964F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			14	2902	+			964					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.2891C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465279	0.63513	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99311	-5.73	4.57	4.57	0.56435	.	0.316812	0.23153	U	0.051326	D	0.97810	0.9281	L	0.36672	1.1	0.38676	D	0.952416	B;P;P;P	0.44195	0.412;0.828;0.683;0.731	B;B;B;B	0.43360	0.133;0.235;0.243;0.417	D	0.99585	1.0974	10	0.22706	T	0.39	.	17.7354	0.88391	0.0:1.0:0.0:0.0	.	805;928;875;964	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	F	964;875	ENSP00000396900:S875F	ENSP00000318212:S964F	S	+	2	0	KCNH6	58976901	1.000000	0.71417	0.930000	0.37139	0.768000	0.43524	6.835000	0.75344	2.228000	0.72767	0.563000	0.77884	TCC		0.577	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		22	55	0	0	0	1	0	22	55				
FBXO18	84893	broad.mit.edu	37	10	5948338	5948338	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:5948338G>A	ENST00000362091.4	+	3	611	c.496G>A	c.(496-498)Gca>Aca	p.A166T	FBXO18_ENST00000379999.5_Missense_Mutation_p.A217T|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	166	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGGCAAGAAGCAGAGGACAG	0.582																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(649-651)Gca>Aca		F-box protein, helicase, 18							54.0	49.0	51.0					10																	5948338		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948338G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.496G>A	10.37:g.5948338G>A	ENSP00000355415:p.Ala166Thr					FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.A166T	p.A217T	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			4	753	+			166					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.649G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	5.565	0.289155	0.10513	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.76	3.76	0.43208	.	0.654494	0.16285	N	0.221151	T	0.31670	0.0804	L	0.51422	1.61	0.24399	N	0.994712	B;B;B	0.32245	0.138;0.031;0.361	B;B;B	0.28139	0.013;0.006;0.086	T	0.09185	-1.0686	9	0.15952	T	0.53	-6.6129	9.4631	0.38796	0.0778:0.2348:0.6874:0.0	.	217;166;92	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	T	166;217	.	ENSP00000355415:A166T	A	+	1	0	FBXO18	5988344	0.064000	0.20934	0.208000	0.23602	0.001000	0.01503	0.565000	0.23578	2.713000	0.92767	0.655000	0.94253	GCA		0.582	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		10	32	0	0	0	1	0	10	32				
KLHL15	80311	broad.mit.edu	37	X	24024193	24024193	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:24024193C>T	ENST00000328046.8	-	3	873	c.618G>A	c.(616-618)cgG>cgA	p.R206R		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	206	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TTCTATCATGCCGCAGCCAAG	0.468																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(616-618)cgG>cgA		kelch-like family member 15							181.0	166.0	171.0					X																	24024193		2203	4300	6503	SO:0001819	synonymous_variant	80311							g.chrX:24024193C>T	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.618G>A	X.37:g.24024193C>T							p.R206R	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			3	873	-			206			BACK.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	c.618G>A	CCDS35217.1																																																																																				0.468	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		10	261	0	0	0	1	0	10	261				
TNXB	7148	broad.mit.edu	37	6	32032624	32032624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:32032624C>T	ENST00000375244.3	-	19	7016	c.6815G>A	c.(6814-6816)gGc>gAc	p.G2272D	TNXB_ENST00000375247.2_Missense_Mutation_p.G2272D			P22105	TENX_HUMAN	tenascin XB	2344	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGACACGGGGCCCACGCGCTG	0.592																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(6814-6816)gGc>gAc		tenascin XB							50.0	57.0	55.0					6																	32032624		1262	2550	3812	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32032624C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6815G>A	6.37:g.32032624C>T	ENSP00000364393:p.Gly2272Asp					TNXB_ENST00000375247.2_Missense_Mutation_p.G2272D	p.G2272D			P22105	TENX_HUMAN			19	7016	-			2344			Fibronectin type-III 15.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.6815G>A		.	.	.	.	.	.	.	.	.	.	C	28.0	4.880544	0.91740	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04194	3.68;3.68	4.82	4.82	0.62117	.	0.000000	0.42420	D	0.000712	T	0.13628	0.0330	M	0.92077	3.27	0.34675	D	0.724158	D	0.57571	0.98	P	0.60345	0.873	T	0.33497	-0.9866	10	0.15066	T	0.55	.	14.9075	0.70730	0.0:1.0:0.0:0.0	.	2272	P22105-3	.	D	2272	ENSP00000364393:G2272D;ENSP00000364396:G2272D	ENSP00000364393:G2272D	G	-	2	0	TNXB	32140602	0.962000	0.33011	0.957000	0.39632	0.443000	0.32047	1.440000	0.35024	2.484000	0.83849	0.591000	0.81541	GGC		0.592	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		17	31	0	0	0	1	0	17	31				
LRRC7	57554	broad.mit.edu	37	1	70541789	70541789	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:70541789G>A	ENST00000035383.5	+	22	4176	c.4146G>A	c.(4144-4146)ggG>ggA	p.G1382G	LRRC7_ENST00000310961.5_Silent_p.G1340G|LRRC7_ENST00000415775.2_Silent_p.G666G	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1382						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGTTGATGGGGTCCCAAAGCC	0.478																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4018-4020)ggG>ggA		leucine rich repeat containing 7							56.0	53.0	54.0					1																	70541789		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541789G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4146G>A	1.37:g.70541789G>A						LRRC7_ENST00000035383.5_Silent_p.G1382G|LRRC7_ENST00000415775.2_Silent_p.G666G	p.G1340G			Q96NW7	LRRC7_HUMAN			24	4438	+			1382					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.4020G>A	CCDS645.1																																																																																				0.478	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		18	34	0	0	0	1	0	18	34				
RPTOR	57521	broad.mit.edu	37	17	78857751	78857751	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:78857751C>T	ENST00000306801.3	+	16	2183	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	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	607					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCTACAGCCTCCTCTCCGACC	0.667																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1819-1821)ctC>ctT		regulatory associated protein of MTOR, complex 1							37.0	36.0	36.0					17																	78857751		2202	4300	6502	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78857751C>T		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.1821C>T	17.37:g.78857751C>T						RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	p.L607L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			16	2183	+			607					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.1821C>T	CCDS11773.1																																																																																				0.667	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		17	25	0	0	0	1	0	17	25				
PLEKHG2	64857	broad.mit.edu	37	19	39915660	39915660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39915660C>T	ENST00000409794.3	+	19	4737	c.3887C>T	c.(3886-3888)cCt>cTt	p.P1296L	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P1267L|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1296					apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCAGGGGCCTGGGGGAGGG	0.716																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(3799-3801)cCt>cTt		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							17.0	21.0	20.0					19																	39915660		2185	4270	6455	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39915660C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3887C>T	19.37:g.39915660C>T	ENSP00000386733:p.Pro1296Leu					PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1296L|PLEKHG2_ENST00000378550.1_Intron	p.P1267L			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	4125	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1296					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.3800C>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092686	0.76756	.	.	ENSG00000090924	ENST00000409794;ENST00000425673	T;T	0.72282	-0.57;-0.64	5.14	4.08	0.47627	.	0.000000	0.39210	N	0.001428	T	0.77665	0.4164	M	0.65975	2.015	0.80722	D	1	D;D	0.61697	0.99;0.982	P;P	0.59424	0.857;0.723	T	0.76995	-0.2752	9	.	.	.	.	10.02	0.42037	0.0:0.9046:0.0:0.0954	.	1267;1296	Q9H7P9-3;Q9H7P9	.;PKHG2_HUMAN	L	1296;1267	ENSP00000386733:P1296L;ENSP00000392906:P1267L	.	P	+	2	0	PLEKHG2	44607500	0.357000	0.24938	0.985000	0.45067	0.967000	0.64934	2.998000	0.49465	1.154000	0.42482	0.561000	0.74099	CCT		0.716	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		4	46	0	0	0	1	0	4	46				
CA11	770	broad.mit.edu	37	19	49142215	49142215	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49142215C>T	ENST00000084798.4	-	8	1570	c.891G>A	c.(889-891)agG>agA	p.R297R	DBP_ENST00000601104.1_5'Flank|DBP_ENST00000222122.5_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	297						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	CCCTCAGTGCCCTGTGGGCCA	0.647																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(889-891)agG>agA		carbonic anhydrase XI							23.0	24.0	23.0					19																	49142215		2203	4300	6503	SO:0001819	synonymous_variant	770					extracellular region		g.chr19:49142215C>T	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.891G>A	19.37:g.49142215C>T						SEC1P_ENST00000430145.2_RNA	p.R297R	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	8	1570	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	297					O60596|Q6FHI1|Q9UEC4	Silent	SNP	ENST00000084798.4	37	c.891G>A	CCDS12729.1																																																																																				0.647	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		4	7	0	0	0	1	0	4	7				
SMR3A	26952	broad.mit.edu	37	4	71232379	71232379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:71232379G>A	ENST00000226460.4	+	3	169	c.73G>A	c.(73-75)Ggc>Agc	p.G25S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	25						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GAGTCAAAGAGGCCCCAGGGG	0.453																																						ENST00000226460.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(73-75)Ggc>Agc		submaxillary gland androgen regulated protein 3A							59.0	60.0	59.0					4																	71232379		2203	4300	6503	SO:0001583	missense	26952					extracellular region		g.chr4:71232379G>A	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.73G>A	4.37:g.71232379G>A	ENSP00000226460:p.Gly25Ser						p.G25S	NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN			3	169	+		all_hematologic(202;0.196)	25						Missense_Mutation	SNP	ENST00000226460.4	37	c.73G>A	CCDS34000.1	.	.	.	.	.	.	.	.	.	.	G	6.223	0.409248	0.11812	.	.	ENSG00000109208	ENST00000226460	T	0.37752	1.18	3.12	1.15	0.20763	.	.	.	.	.	T	0.39253	0.1071	L	0.31476	0.935	0.09310	N	1	D	0.89917	1.0	D	0.69824	0.966	T	0.18840	-1.0324	9	0.29301	T	0.29	.	5.2003	0.15260	0.0:0.2335:0.5268:0.2397	.	25	Q99954	SMR3A_HUMAN	S	25	ENSP00000226460:G25S	ENSP00000226460:G25S	G	+	1	0	SMR3A	71266968	0.019000	0.18553	0.003000	0.11579	0.033000	0.12548	1.099000	0.31013	0.263000	0.21812	0.561000	0.74099	GGC		0.453	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		4	61	0	0	0	1	0	4	61				
SRSF6	6431	broad.mit.edu	37	20	42089185	42089185	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:42089185G>A	ENST00000244020.3	+	5	727	c.621G>A	c.(619-621)agG>agA	p.R207R		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	207	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CACGAAGTAGGAGTCGCAGGA	0.428																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(619-621)agG>agA		serine/arginine-rich splicing factor 6							123.0	116.0	118.0					20																	42089185		2203	4300	6503	SO:0001819	synonymous_variant	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42089185G>A	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.621G>A	20.37:g.42089185G>A							p.R207R	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			5	727	+			207			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Silent	SNP	ENST00000244020.3	37	c.621G>A	CCDS13318.1																																																																																				0.428	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		19	49	0	0	0	1	0	19	49				
DGKA	1606	broad.mit.edu	37	12	56346210	56346210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56346210G>A	ENST00000331886.5	+	20	2192	c.1738G>A	c.(1738-1740)Gtt>Att	p.V580I	DGKA_ENST00000394147.1_Missense_Mutation_p.V580I|DGKA_ENST00000551156.1_Missense_Mutation_p.V580I|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	580					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTCTTTGACAGTTGAGGTGTG	0.428																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(1738-1740)Gtt>Att		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						140.0	125.0	130.0					12																	56346210		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56346210G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1738G>A	12.37:g.56346210G>A	ENSP00000328405:p.Val580Ile					DGKA_ENST00000551156.1_Missense_Mutation_p.V580I|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.V580I	p.V580I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			20	2192	+			580					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.1738G>A	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385623	0.25031	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156;ENST00000552903	T;T;T;T;T	0.40476	1.03;1.04;1.03;1.03;1.59	5.02	3.15	0.36227	Diacylglycerol kinase, accessory domain (2);	0.120591	0.53938	N	0.000042	T	0.17704	0.0425	N	0.05330	-0.07	0.34792	D	0.735825	B;B	0.19200	0.017;0.034	B;B	0.24155	0.051;0.047	T	0.25257	-1.0137	10	0.02654	T	1	.	7.6133	0.28144	0.2647:0.0:0.7353:0.0	.	499;580	G3V4E1;P23743	.;DGKA_HUMAN	I	580;499;580;580;190	ENSP00000328405:V580I;ENSP00000451743:V499I;ENSP00000377703:V580I;ENSP00000450359:V580I;ENSP00000451518:V190I	ENSP00000328405:V580I	V	+	1	0	DGKA	54632477	0.997000	0.39634	0.999000	0.59377	0.922000	0.55478	2.521000	0.45563	1.249000	0.43950	0.491000	0.48974	GTT		0.428	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			35	47	0	0	0	1	0	35	47				
IK	3550	broad.mit.edu	37	5	140034120	140034120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140034120G>A	ENST00000417647.2	+	7	678	c.539G>A	c.(538-540)aGc>aAc	p.S180N		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	180					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATTGCCAGCAAAGAGAAA	0.403																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(538-540)aGc>aAc		IK cytokine, down-regulator of HLA II							40.0	39.0	40.0					5																	140034120		1833	4084	5917	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140034120G>A	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.539G>A	5.37:g.140034120G>A	ENSP00000396301:p.Ser180Asn						p.S180N	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	678	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	180					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.539G>A	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298048	0.60086	.	.	ENSG00000113141	ENST00000417647;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.99	5.99	0.97316	RED-like, N-terminal (1);	0.034171	0.85682	D	0.000000	T	0.43344	0.1243	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.12013	0.005;0.001	B;B	0.14023	0.009;0.01	T	0.28004	-1.0057	9	0.17369	T	0.5	.	13.3031	0.60336	0.0724:0.0:0.9276:0.0	.	180;180	Q9UK43;Q13123	.;RED_HUMAN	N	180	.	ENSP00000261812:S180N	S	+	2	0	IK	140014304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.840000	0.97914	0.655000	0.94253	AGC		0.403	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		3	10	0	0	0	1	0	3	10				
C9orf129	445577	broad.mit.edu	37	9	96080719	96080719	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:96080719G>A	ENST00000375419.1	-	5	915	c.552C>T	c.(550-552)tgC>tgT	p.C184C	WNK2_ENST00000395477.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000349097.3_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	184										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						CTGGGGCAGGGCACACTGGCG	0.597																																						ENST00000375419.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						c.(550-552)tgC>tgT		chromosome 9 open reading frame 129							77.0	85.0	83.0					9																	96080719		2035	4204	6239	SO:0001819	synonymous_variant	445577							g.chr9:96080719G>A		CCDS43850.1	9q22.31	2012-04-02			ENSG00000204352	ENSG00000204352			31116	protein-coding gene	gene with protein product							Standard	NM_001098808		Approved	bA165J3.3	uc010mre.3	Q5T035	OTTHUMG00000020248	ENST00000375419.1:c.552C>T	9.37:g.96080719G>A						WNK2_ENST00000356055.3_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron	p.C184C	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN			5	915	-			184						Silent	SNP	ENST00000375419.1	37	c.552C>T	CCDS43850.1																																																																																				0.597	C9orf129-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053147.1	NM_001098808		10	62	0	0	0	1	0	10	62				
SLC5A9	200010	broad.mit.edu	37	1	48697247	48697247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:48697247C>T	ENST00000438567.2	+	6	693	c.641C>T	c.(640-642)gCt>gTt	p.A214V	SLC5A9_ENST00000533824.1_Missense_Mutation_p.A235V|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000236495.5_Missense_Mutation_p.A239V|SLC5A9_ENST00000420136.2_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	214					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)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TACACAGATGCTCTGCAGACG	0.552																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(715-717)gCt>gTt		solute carrier family 5 (sodium/sugar cotransporter), member 9							94.0	80.0	85.0					1																	48697247		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48697247C>T	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.641C>T	1.37:g.48697247C>T	ENSP00000401730:p.Ala214Val					SLC5A9_ENST00000438567.2_Missense_Mutation_p.A214V|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A235V|SLC5A9_ENST00000420136.2_3'UTR	p.A239V	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			7	766	+			214					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.716C>T	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779652	0.90195	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.87103	-2.21;-2.21;-2.21	5.84	5.84	0.93424	.	0.267810	0.42821	D	0.000654	D	0.86920	0.6049	N	0.20445	0.575	0.80722	D	1	P;P;P	0.42692	0.67;0.787;0.787	P;P;P	0.56216	0.458;0.7;0.794	D	0.88066	0.2797	10	0.87932	D	0	.	14.3339	0.66576	0.0:0.9271:0.0:0.0729	.	235;214;239	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	V	235;214;239	ENSP00000431900:A235V;ENSP00000401730:A214V;ENSP00000236495:A239V	ENSP00000236495:A239V	A	+	2	0	SLC5A9	48469834	0.319000	0.24607	0.760000	0.31359	0.773000	0.43773	3.162000	0.50755	2.769000	0.95229	0.563000	0.77884	GCT		0.552	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		9	35	0	0	0	1	0	9	35				
KCNA3	3738	broad.mit.edu	37	1	111216034	111216034	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:111216034G>A	ENST00000369769.2	-	1	1621	c.1398C>T	c.(1396-1398)atC>atT	p.I466I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	466					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.I466I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AGACACCGGCGATGGCACAGA	0.527																																						ENST00000369769.2																			1	Substitution - coding silent(1)	p.I466I(1)	prostate(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1396-1398)atC>atT		potassium voltage-gated channel, shaker-related subfamily, member 3							104.0	84.0	91.0					1																	111216034		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216034G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1398C>T	1.37:g.111216034G>A							p.I466I	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1621	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	466					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.1398C>T	CCDS828.2																																																																																				0.527	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		3	65	0	0	0	1	0	3	65				
MYO5A	4644	broad.mit.edu	37	15	52684159	52684159	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:52684159C>T	ENST00000399231.3	-	12	1753	c.1510G>A	c.(1510-1512)Ggc>Agc	p.G504S	MYO5A_ENST00000358212.6_Missense_Mutation_p.G504S|MYO5A_ENST00000553916.1_Missense_Mutation_p.G504S|MYO5A_ENST00000399233.2_Missense_Mutation_p.G504S|MYO5A_ENST00000356338.6_Missense_Mutation_p.G504S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	504	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTAGAATGCCTAGTTTTGAT	0.338																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(1510-1512)Ggc>Agc		myosin VA (heavy chain 12, myoxin)							118.0	110.0	113.0					15																	52684159		1817	4065	5882	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52684159C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1510G>A	15.37:g.52684159C>T	ENSP00000382177:p.Gly504Ser					MYO5A_ENST00000358212.6_Missense_Mutation_p.G504S|MYO5A_ENST00000356338.6_Missense_Mutation_p.G504S|MYO5A_ENST00000553916.1_Missense_Mutation_p.G504S|MYO5A_ENST00000399233.2_Missense_Mutation_p.G504S	p.G504S	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	12	1753	-			504			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1510G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579190	0.96565	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.68	5.68	0.88126	Myosin head, motor domain (3);	0.043943	0.85682	N	0.000000	D	0.99387	0.9784	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98860	1.0762	10	0.87932	D	0	.	19.7884	0.96447	0.0:1.0:0.0:0.0	.	504;504	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	S	504;38;504;504;504;134;504	ENSP00000382177:G504S;ENSP00000382179:G504S;ENSP00000348693:G504S;ENSP00000350945:G504S;ENSP00000451109:G504S	ENSP00000348693:G504S	G	-	1	0	MYO5A	50471451	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.666000	0.90696	0.650000	0.86243	GGC		0.338	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		16	41	0	0	0	1	0	16	41				
KIF26A	26153	broad.mit.edu	37	14	104639559	104639559	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:104639559C>T	ENST00000423312.2	+	8	1666	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S	KIF26A_ENST00000315264.7_Missense_Mutation_p.P417S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	556	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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)		GCGGGAGGACCCCGTGTGTGG	0.711																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(1249-1251)Ccc>Tcc		kinesin family member 26A							17.0	23.0	21.0					14																	104639559		2031	4151	6182	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104639559C>T	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.1666C>T	14.37:g.104639559C>T	ENSP00000388241:p.Pro556Ser					KIF26A_ENST00000423312.2_Missense_Mutation_p.P556S	p.P417S			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	7	1627	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	556			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.1249C>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550478	0.86127	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.73897	-0.79;-0.79	5.18	5.18	0.71444	Kinesin, motor domain (4);	.	.	.	.	D	0.83945	0.5364	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85613	0.1259	9	0.87932	D	0	.	18.6831	0.91554	0.0:1.0:0.0:0.0	.	556	Q9ULI4	KI26A_HUMAN	S	556;417	ENSP00000388241:P556S;ENSP00000325452:P417S	ENSP00000325452:P417S	P	+	1	0	KIF26A	103709312	1.000000	0.71417	0.990000	0.47175	0.548000	0.35241	3.116000	0.50399	2.397000	0.81536	0.462000	0.41574	CCC		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			9	8	0	0	0	1	0	9	8				
NDST1	3340	broad.mit.edu	37	5	149900947	149900947	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149900947G>A	ENST00000261797.6	+	2	633	c.131G>A	c.(130-132)gGc>gAc	p.G44D	NDST1_ENST00000523767.1_Missense_Mutation_p.G44D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	44	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGCGAGGCCTGGAGCCC	0.652																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(130-132)gGc>gAc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							99.0	94.0	96.0					5																	149900947		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149900947G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.131G>A	5.37:g.149900947G>A	ENSP00000261797:p.Gly44Asp					NDST1_ENST00000523767.1_Missense_Mutation_p.G44D	p.G44D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	633	+		all_hematologic(541;0.224)	44			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.131G>A	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320862	0.23994	.	.	ENSG00000070614	ENST00000522491;ENST00000519157;ENST00000523767;ENST00000261797	T;T;T	0.41758	0.99;1.01;1.34	5.22	4.3	0.51218	.	0.163851	0.53938	D	0.000047	T	0.19846	0.0477	N	0.02011	-0.69	0.53688	D	0.999975	B;B;B	0.24368	0.04;0.102;0.0	B;B;B	0.28139	0.063;0.086;0.001	T	0.11251	-1.0595	10	0.14252	T	0.57	.	16.4264	0.83816	0.0:0.131:0.869:0.0	.	44;44;44	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	D	44	ENSP00000427813:G44D;ENSP00000428604:G44D;ENSP00000261797:G44D	ENSP00000261797:G44D	G	+	2	0	NDST1	149881140	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.923000	0.48868	2.595000	0.87683	0.655000	0.94253	GGC		0.652	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		43	83	0	0	0	1	0	43	83				
PRDM1	639	broad.mit.edu	37	6	106543608	106543608	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:106543608G>A	ENST00000369096.4	+	3	644	c.410G>A	c.(409-411)aGg>aAg	p.R137K	PRDM1_ENST00000369091.2_Splice_Site_p.R101K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	137	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TATTTTTGGAGGGTAAGTAAG	0.413			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.e3+1		PR domain containing 1, with ZNF domain							62.0	59.0	60.0					6																	106543608		2203	4300	6503	SO:0001630	splice_region_variant	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106543608G>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.411+1G>A	6.37:g.106543608G>A						PRDM1_ENST00000369091.2_Splice_Site_p.R101_splice	p.R137_splice	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	3	644	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	137			SET.		B2REA6|E1P5E0|Q86WM7	Splice_Site	SNP	ENST00000369096.4	37	c.411_splice	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494415	0.85069	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278	T;T	0.72051	-0.62;-0.62	6.06	6.06	0.98353	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	N	0.25957	0.775	0.80722	D	1	B	0.14805	0.011	B	0.16722	0.016	T	0.41945	-0.9480	10	0.35671	T	0.21	-23.0317	20.6208	0.99490	0.0:0.0:1.0:0.0	.	137	O75626	PRDM1_HUMAN	K	101;137;101	ENSP00000358087:R101K;ENSP00000358092:R137K	ENSP00000358087:R101K	R	+	2	0	PRDM1	106650301	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	AGG		0.413	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3		Missense_Mutation	5	46	0	0	0	1	0	5	46				
PDE4C	5143	broad.mit.edu	37	19	18333022	18333022	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18333022C>T	ENST00000355502.3	-	6	1225	c.354G>A	c.(352-354)gaG>gaA	p.E118E	PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000447275.3_Silent_p.E12E|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Silent_p.E118E|PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000594465.3_Silent_p.E118E|PDE4C_ENST00000262805.12_Silent_p.E86E			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	118					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ACAGGAAGGACTCGCGCCGCT	0.642																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(352-354)gaG>gaA		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						62.0	56.0	58.0					19																	18333022		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18333022C>T		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.354G>A	19.37:g.18333022C>T						PDE4C_ENST00000594617.2_Silent_p.E118E|PDE4C_ENST00000262805.11_Silent_p.E86E|PDE4C_ENST00000447275.2_Silent_p.E12E|PDE4C_ENST00000594465.2_Silent_p.E118E	p.E118E			Q08493	PDE4C_HUMAN			6	1225	-			118					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.354G>A	CCDS12373.1																																																																																				0.642	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			17	31	0	0	0	1	0	17	31				
NUP153	9972	broad.mit.edu	37	6	17637678	17637678	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:17637678C>T	ENST00000262077.2	-	16	2169	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	NUP153_ENST00000537253.1_Missense_Mutation_p.G755S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	724					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCCCAAGTGCCTATCACTGGT	0.408																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(2170-2172)Ggc>Agc		nucleoporin 153kDa							190.0	178.0	182.0					6																	17637678		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17637678C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2170G>A	6.37:g.17637678C>T	ENSP00000262077:p.Gly724Ser					NUP153_ENST00000537253.1_Missense_Mutation_p.G755S	p.G724S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		16	2169	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	724					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.2170G>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895192	0.72639	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.69306	-0.39;-0.39	5.96	5.96	0.96718	Zinc finger, RanBP2-type (3);	0.123358	0.36628	N	0.002499	T	0.69342	0.3100	M	0.81802	2.56	0.80722	D	1	P;P;B	0.46327	0.465;0.876;0.434	P;P;B	0.47941	0.496;0.562;0.305	T	0.74799	-0.3542	10	0.72032	D	0.01	-7.3534	15.4845	0.75555	0.0:0.9323:0.0:0.0677	.	755;704;724	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	724;704;755	ENSP00000262077:G724S;ENSP00000444029:G755S	ENSP00000262077:G724S	G	-	1	0	NUP153	17745657	1.000000	0.71417	0.995000	0.50966	0.439000	0.31926	5.663000	0.68038	2.827000	0.97445	0.655000	0.94253	GGC		0.408	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			70	151	0	0	0	1	0	70	151				
WDR35	57539	broad.mit.edu	37	2	20136095	20136095	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:20136095C>T	ENST00000345530.3	-	21	2447	c.2332G>A	c.(2332-2334)Ggg>Agg	p.G778R	WDR35_ENST00000281405.4_Missense_Mutation_p.G767R|WDR35_ENST00000416055.2_Missense_Mutation_p.G343R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	778					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)				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)					AACCAATCCCCCAATTTCAGC	0.443																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2332-2334)Ggg>Agg		WD repeat domain 35							108.0	107.0	108.0					2																	20136095		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20136095C>T	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.2332G>A	2.37:g.20136095C>T	ENSP00000314444:p.Gly778Arg					WDR35_ENST00000281405.4_Missense_Mutation_p.G767R|WDR35_ENST00000416055.2_Missense_Mutation_p.G343R	p.G778R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			21	2447	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		778					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2332G>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610964	0.66558	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.88046	-0.21;-0.21;-0.91;-2.33	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	M	0.89095	3.005	0.80722	D	1	B;B;D;D	0.67145	0.223;0.045;0.996;0.983	B;B;D;D	0.65443	0.325;0.054;0.935;0.934	D	0.90845	0.4726	10	0.02654	T	1	-11.5459	17.8801	0.88838	0.0:1.0:0.0:0.0	.	778;767;778;343	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	R	778;767;343;313	ENSP00000314444:G778R;ENSP00000281405:G767R;ENSP00000399159:G343R;ENSP00000404409:G313R	ENSP00000281405:G767R	G	-	1	0	WDR35	19999576	1.000000	0.71417	0.983000	0.44433	0.521000	0.34408	7.770000	0.85390	2.524000	0.85096	0.467000	0.42956	GGG		0.443	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		5	75	0	0	0	1	0	5	75				
S1PR3	1903	broad.mit.edu	37	9	91616794	91616794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:91616794C>T	ENST00000375846.3	+	1	5374	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	S1PR3_ENST00000358157.2_Missense_Mutation_p.R227C			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	227					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GTCCAGCAGCCGTAAGGTGGC	0.567											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375846.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						c.(679-681)Cgt>Tgt		sphingosine-1-phosphate receptor 3							108.0	87.0	94.0					9																	91616794		2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616794C>T	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.679C>T	9.37:g.91616794C>T	ENSP00000365006:p.Arg227Cys		OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283	S1PR3_ENST00000358157.2_Missense_Mutation_p.R227C	p.R227C			Q99500	S1PR3_HUMAN			1	5374	+			227					Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.679C>T	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578830	0.86645	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.43688	0.94;0.94	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.125530	0.56097	D	0.000039	T	0.67896	0.2942	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.71771	-0.4492	10	0.87932	D	0	.	19.0785	0.93173	0.0:1.0:0.0:0.0	.	227	Q99500	S1PR3_HUMAN	C	227	ENSP00000350878:R227C;ENSP00000365006:R227C	ENSP00000350878:R227C	R	+	1	0	S1PR3	90806614	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	5.757000	0.68766	2.815000	0.96918	0.561000	0.74099	CGT		0.567	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		21	42	0	0	0	1	0	21	42				
ASTN2	23245	broad.mit.edu	37	9	119903656	119903656	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:119903656G>A	ENST00000313400.4	-	4	1217	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.P373S|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	373					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				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						CTGCGCAGGGGTGGTTGCAGC	0.597																																						ENST00000313400.4																			0				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						c.(1117-1119)Ccc>Tcc		astrotactin 2							107.0	85.0	92.0					9																	119903656		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119903656G>A	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.1117C>T	9.37:g.119903656G>A	ENSP00000314038:p.Pro373Ser					ASTN2_ENST00000373996.3_Missense_Mutation_p.P373S|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron	p.P373S			O75129	ASTN2_HUMAN			4	1217	-			373					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1117C>T		.	.	.	.	.	.	.	.	.	.	G	12.84	2.057444	0.36277	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986	T;T;T	0.10382	3.07;3.07;2.88	5.06	4.17	0.49024	.	0.155509	0.43110	D	0.000601	T	0.10035	0.0246	.	.	.	0.23831	N	0.996722	B;P	0.35575	0.005;0.51	B;B	0.36567	0.007;0.228	T	0.17167	-1.0378	8	.	.	.	-12.6616	13.9192	0.63921	0.0:0.8463:0.1537:0.0	.	373;373	O75129;O75129-3	ASTN2_HUMAN;.	S	373;373;100	ENSP00000314038:P373S;ENSP00000363108:P373S;ENSP00000363098:P100S	.	P	-	1	0	ASTN2	118943477	1.000000	0.71417	0.988000	0.46212	0.457000	0.32468	4.066000	0.57520	1.132000	0.42129	-0.241000	0.12123	CCC		0.597	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		21	33	0	0	0	1	0	21	33				
PREX2	80243	broad.mit.edu	37	8	69031675	69031675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:69031675C>T	ENST00000288368.4	+	28	3707	c.3430C>T	c.(3430-3432)Ctt>Ttt	p.L1144F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1144					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGGTGATGAACTTCCCTTAAG	0.343																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(3430-3432)Ctt>Ttt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							157.0	141.0	146.0					8																	69031675		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69031675C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3430C>T	8.37:g.69031675C>T	ENSP00000288368:p.Leu1144Phe						p.L1144F	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			28	3707	+			1144					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3430C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678328	0.68042	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.42900	0.96	5.39	5.39	0.77823	.	0.165831	0.44688	D	0.000426	T	0.48978	0.1530	L	0.43923	1.385	0.45250	D	0.998253	P	0.52692	0.955	P	0.55345	0.774	T	0.43032	-0.9416	10	0.52906	T	0.07	.	12.8304	0.57742	0.0:0.9249:0.0:0.0751	.	1144	Q70Z35	PREX2_HUMAN	F	1144;1150	ENSP00000288368:L1144F	ENSP00000288368:L1144F	L	+	1	0	PREX2	69194229	0.981000	0.34729	1.000000	0.80357	0.911000	0.54048	1.832000	0.39151	2.697000	0.92050	0.650000	0.86243	CTT		0.343	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		6	104	0	0	0	1	0	6	104				
CACNA1H	8912	broad.mit.edu	37	16	1267956	1267956	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1267956G>A	ENST00000348261.5	+	32	5609	c.5361G>A	c.(5359-5361)agG>agA	p.R1787R	CACNA1H_ENST00000565831.1_Silent_p.R1781R|CACNA1H_ENST00000358590.4_Silent_p.R1781R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1787					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCCTGAGCAGGCACGCCACCT	0.682																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5359-5361)agG>agA		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						25.0	31.0	29.0					16																	1267956		2134	4244	6378	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1267956G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5361G>A	16.37:g.1267956G>A						CACNA1H_ENST00000565831.1_Silent_p.R1781R|CACNA1H_ENST00000358590.4_Silent_p.R1781R	p.R1787R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			32	5609	+		Hepatocellular(780;0.00369)	1787					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.5361G>A	CCDS45375.1																																																																																				0.682	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	9	0	0	0	1	0	4	9				
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A	rs185815738	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000309035.6_Silent_p.G813G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82.0	86.0	85.0					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	73	0	0	0	1	0	5	73				
ECT2L	345930	broad.mit.edu	37	6	139210131	139210131	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:139210131C>T	ENST00000423192.1	+	19	2538	c.2377C>T	c.(2377-2379)Ctt>Ttt	p.L793F	ECT2L_ENST00000367682.2_Missense_Mutation_p.L793F|ECT2L_ENST00000541398.1_Missense_Mutation_p.L647F			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	793							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGTAGCCCAACTTCATTGCTG	0.323			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2377-2379)Ctt>Ttt		epithelial cell transforming sequence 2 oncogene-like							99.0	99.0	99.0					6																	139210131		1848	4103	5951	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139210131C>T		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2377C>T	6.37:g.139210131C>T	ENSP00000387388:p.Leu793Phe					ECT2L_ENST00000367682.2_Missense_Mutation_p.L793F|ECT2L_ENST00000541398.1_Missense_Mutation_p.L647F	p.L793F			Q008S8	ECT2L_HUMAN			19	2538	+			793					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2377C>T	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943213	0.73672	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.80214	-1.35;-1.35;-1.35	4.86	4.86	0.63082	.	0.000000	0.37715	U	0.001963	D	0.86218	0.5880	M	0.74881	2.28	0.29391	N	0.862634	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.82242	-0.0554	10	0.66056	D	0.02	-4.7453	15.318	0.74095	0.0:1.0:0.0:0.0	.	647;793	F5H7S9;Q008S8	.;ECT2L_HUMAN	F	793;793;647	ENSP00000387388:L793F;ENSP00000356655:L793F;ENSP00000442307:L647F	ENSP00000356655:L793F	L	+	1	0	ECT2L	139251824	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.997000	0.40786	2.425000	0.82216	0.561000	0.74099	CTT		0.323	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		35	84	0	0	0	1	0	35	84				
SLFN13	146857	broad.mit.edu	37	17	33767974	33767974	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:33767974C>T	ENST00000285013.6	-	6	2609	c.2334G>A	c.(2332-2334)aaG>aaA	p.K778K	SLFN13_ENST00000533791.1_Silent_p.K778K|SLFN13_ENST00000542635.1_Silent_p.K778K|SLFN13_ENST00000534689.1_Silent_p.K460K|SLFN13_ENST00000526861.1_Silent_p.K778K|SLFN13_ENST00000360502.2_Silent_p.K460K	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	778						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTTAATAATCTTTGTGTTGC	0.418																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2332-2334)aaG>aaA		schlafen family member 13							80.0	81.0	81.0					17																	33767974		2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33767974C>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2334G>A	17.37:g.33767974C>T						SLFN13_ENST00000542635.1_Silent_p.K778K|SLFN13_ENST00000533791.1_Silent_p.K778K|SLFN13_ENST00000526861.1_Silent_p.K778K|SLFN13_ENST00000534689.1_Silent_p.K460K|SLFN13_ENST00000360502.2_Silent_p.K460K	p.K778K	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	6	2609	-			778					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.2334G>A	CCDS32620.1																																																																																				0.418	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		19	91	0	0	0	1	0	19	91				
KIF3C	3797	broad.mit.edu	37	2	26203334	26203334	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:26203334C>T	ENST00000264712.3	-	1	2032	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	KIF3C_ENST00000405914.1_Missense_Mutation_p.E485K	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	485					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGCTTCTCCTCGCTCACC	0.592																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1453-1455)Gag>Aag		kinesin family member 3C							76.0	74.0	75.0					2																	26203334		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203334C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1453G>A	2.37:g.26203334C>T	ENSP00000264712:p.Glu485Lys					KIF3C_ENST00000405914.1_Missense_Mutation_p.E485K	p.E485K	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	2032	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		485					O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.1453G>A	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043652	0.75732	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.74947	-0.89;-0.89	5.62	5.62	0.85841	.	0.045770	0.85682	D	0.000000	T	0.81522	0.4840	L	0.50993	1.605	0.58432	D	0.999995	B;D	0.64830	0.12;0.994	B;P	0.61592	0.052;0.891	T	0.78994	-0.1984	10	0.34782	T	0.22	.	18.223	0.89907	0.0:1.0:0.0:0.0	.	485;485	B7ZM25;O14782	.;KIF3C_HUMAN	K	485;291;485	ENSP00000264712:E485K;ENSP00000385030:E485K	ENSP00000264712:E485K	E	-	1	0	KIF3C	26056838	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.995000	0.70631	2.653000	0.90120	0.655000	0.94253	GAG		0.592	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			19	43	0	0	0	1	0	19	43				
LAMB3	3914	broad.mit.edu	37	1	209807852	209807852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:209807852C>T	ENST00000356082.4	-	6	638	c.504G>A	c.(502-504)tgG>tgA	p.W168*	LAMB3_ENST00000367030.3_Nonsense_Mutation_p.W168*|LAMB3_ENST00000391911.1_Nonsense_Mutation_p.W168*	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	168	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GAACATCCTGCCAGCTCTGAG	0.607																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(502-504)tgG>tgA		laminin, beta 3							76.0	68.0	70.0					1																	209807852		2203	4300	6503	SO:0001587	stop_gained	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209807852C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.504G>A	1.37:g.209807852C>T	ENSP00000348384:p.Trp168*					LAMB3_ENST00000356082.4_Nonsense_Mutation_p.W168*|LAMB3_ENST00000367030.3_Nonsense_Mutation_p.W168*	p.W168*	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	5	893	-			168			Laminin N-terminal.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Nonsense_Mutation	SNP	ENST00000356082.4	37	c.504G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948413	0.92593	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000415782	.	.	.	4.57	4.57	0.56435	.	0.081695	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	17.2162	0.86945	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000348384:W168X	W	-	3	0	LAMB3	207874475	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.034000	0.41145	2.381000	0.81170	0.558000	0.71614	TGG		0.607	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		5	64	0	0	0	1	0	5	64				
LRP1B	53353	broad.mit.edu	37	2	141474259	141474259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:141474259C>T	ENST00000389484.3	-	36	6856	c.5885G>A	c.(5884-5886)tGg>tAg	p.W1962*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1962					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCAGCAATCCAGTCAACAGC	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5884-5886)tGg>tAg		low density lipoprotein receptor-related protein 1B							138.0	124.0	129.0					2																	141474259		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141474259C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5885G>A	2.37:g.141474259C>T	ENSP00000374135:p.Trp1962*	TSP Lung(27;0.18)					p.W1962*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	36	6856	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1962					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.5885G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	53	20.557015	0.99932	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	.	.	.	X	1962;1900	.	ENSP00000374135:W1962X	W	-	2	0	LRP1B	141190729	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.583000	0.82559	2.619000	0.88677	0.460000	0.39030	TGG		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	109	0	0	0	1	0	10	109				
EXTL2	2135	broad.mit.edu	37	1	101339959	101339959	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:101339959C>T	ENST00000370114.3	-	5	1968	c.532G>A	c.(532-534)Gtt>Att	p.V178I	EXTL2_ENST00000535414.1_Missense_Mutation_p.V165I|EXTL2_ENST00000370113.3_Missense_Mutation_p.V178I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	178					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTCTAGGAACAAATCCTACA	0.363																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(532-534)Gtt>Att		exostosin-like glycosyltransferase 2							62.0	64.0	64.0					1																	101339959		2201	4296	6497	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339959C>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.532G>A	1.37:g.101339959C>T	ENSP00000359132:p.Val178Ile					EXTL2_ENST00000370113.3_Missense_Mutation_p.V178I|EXTL2_ENST00000535414.1_Missense_Mutation_p.V165I	p.V178I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	1968	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	178					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.532G>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393306	0.42410	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.97	5.97	0.96955	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.053861	0.64402	D	0.000001	T	0.64057	0.2564	L	0.53249	1.67	0.58432	D	0.999998	B;B	0.20988	0.022;0.05	B;B	0.21917	0.022;0.037	T	0.59553	-0.7433	10	0.27082	T	0.32	-24.3671	15.5529	0.76167	0.0:0.9324:0.0:0.0676	.	177;178	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	I	178;178;165;186	ENSP00000359132:V178I;ENSP00000359131:V178I;ENSP00000444385:V165I;ENSP00000403363:V186I	ENSP00000359131:V178I	V	-	1	0	EXTL2	101112547	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.792000	0.55476	2.837000	0.97791	0.655000	0.94253	GTT		0.363	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		34	100	0	0	0	1	0	34	100				
KIAA1143	57456	broad.mit.edu	37	3	44803058	44803058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:44803058C>T	ENST00000296121.4	-	1	96	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	KIAA1143_ENST00000484437.1_5'Flank|KIF15_ENST00000326047.4_5'Flank	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	13										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		GCCGGCTCGGCTGGCCGCACG	0.602																																						ENST00000296121.4																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5						c.(37-39)Gcc>Acc		KIAA1143							30.0	35.0	33.0					3																	44803058		2203	4300	6503	SO:0001583	missense	57456							g.chr3:44803058C>T	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.37G>A	3.37:g.44803058C>T	ENSP00000296121:p.Ala13Thr						p.A13T	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)	1	96	-			13					A8K0I4|Q96HJ8|Q9ULS7	Missense_Mutation	SNP	ENST00000296121.4	37	c.37G>A	CCDS2721.1	.	.	.	.	.	.	.	.	.	.	C	9.927	1.213865	0.22289	.	.	ENSG00000163807	ENST00000296121	T	0.46063	0.88	5.0	2.01	0.26516	.	0.212749	0.48286	D	0.000194	T	0.29783	0.0744	L	0.45228	1.405	0.37531	D	0.917901	B	0.10296	0.003	B	0.10450	0.005	T	0.12656	-1.0539	9	.	.	.	-8.678	7.3799	0.26849	0.126:0.6821:0.122:0.0698	.	13	Q96AT1	K1143_HUMAN	T	13	ENSP00000296121:A13T	.	A	-	1	0	KIAA1143	44778062	0.715000	0.27946	0.216000	0.23742	0.115000	0.19883	1.166000	0.31834	0.790000	0.33803	-0.137000	0.14449	GCC		0.602	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		5	67	0	0	0	1	0	5	67				
GRIA3	2892	broad.mit.edu	37	X	122319729	122319729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:122319729G>A	ENST00000371251.1	+	2	207	c.155G>A	c.(154-156)cGc>cAc	p.R52H	GRIA3_ENST00000541091.1_Missense_Mutation_p.R36H|GRIA3_ENST00000264357.5_Missense_Mutation_p.R52H|GRIA3_ENST00000542149.1_Missense_Mutation_p.R52H|GRIA3_ENST00000371264.3_Missense_Mutation_p.R52H|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371266.1_Missense_Mutation_p.R52H|GRIA3_ENST00000371256.5_Missense_Mutation_p.R52H			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	52					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGCGCTTTCCGCTTTGCCGTG	0.483																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(154-156)cGc>cAc		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						158.0	118.0	132.0					X																	122319729		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122319729G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.155G>A	X.37:g.122319729G>A	ENSP00000360297:p.Arg52His					GRIA3_ENST00000542149.1_Missense_Mutation_p.R52H|GRIA3_ENST00000541091.1_Missense_Mutation_p.R36H|GRIA3_ENST00000371256.5_Missense_Mutation_p.R52H|GRIA3_ENST00000371264.3_Missense_Mutation_p.R52H|GRIA3_ENST00000371251.1_Missense_Mutation_p.R52H|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371266.1_Missense_Mutation_p.R52H	p.R52H	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			2	447	+			52					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.155G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044722	0.93685	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.67	5.67	0.87782	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	L	0.59436	1.845	0.51233	D	0.999914	D;D;P;P	0.89917	1.0;1.0;0.934;0.918	P;D;B;B	0.79108	0.881;0.992;0.274;0.179	D	0.89488	0.3755	10	0.87932	D	0	.	12.6703	0.56864	0.0:0.0:0.8355:0.1645	.	36;52;52;52	B7Z4C0;Q4TT43;P42263;P42263-2	.;.;GRIA3_HUMAN;.	H	52;52;52;52;52;52;52;36	ENSP00000264357:R52H;ENSP00000446146:R52H;ENSP00000360302:R52H;ENSP00000360297:R52H;ENSP00000446440:R36H	ENSP00000264357:R52H	R	+	2	0	GRIA3	122147410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.500000	0.81588	2.372000	0.80975	0.600000	0.82982	CGC		0.483	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		7	95	0	0	0	1	0	7	95				
AKAP13	11214	broad.mit.edu	37	15	86207978	86207978	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:86207978G>A	ENST00000394518.2	+	13	5079	c.4984G>A	c.(4984-4986)Gat>Aat	p.D1662N	AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D1666N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1662					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TAGGATGTTTGATCAGCAGGT	0.403																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4984-4986)Gat>Aat		A kinase (PRKA) anchor protein 13							78.0	73.0	74.0					15																	86207978		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86207978G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4984G>A	15.37:g.86207978G>A	ENSP00000378026:p.Asp1662Asn					RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D1666N|AKAP13_ENST00000560579.1_3'UTR	p.D1662N	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			13	5079	+			1662					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.4984G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434431	0.43224	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.11385	2.8;2.78	5.64	4.73	0.59995	.	.	.	.	.	T	0.10423	0.0255	L	0.31294	0.92	0.80722	D	1	P;P;P	0.46142	0.873;0.799;0.873	P;B;P	0.46659	0.523;0.323;0.523	T	0.15065	-1.0450	9	0.36615	T	0.2	.	7.7356	0.28812	0.1467:0.1351:0.7182:0.0	.	1644;1662;1666	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	N	1666;1662;1665;1643;284	ENSP00000354718:D1666N;ENSP00000378026:D1662N	ENSP00000354718:D1666N	D	+	1	0	AKAP13	84008982	0.932000	0.31603	1.000000	0.80357	0.976000	0.68499	1.214000	0.32419	1.530000	0.49136	0.650000	0.86243	GAT		0.403	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		29	43	0	0	0	1	0	29	43				
KIZ-AS1	101929591	broad.mit.edu	37	20	21143658	21143658	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:21143658G>A	ENST00000591761.1	-	0	5051				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							CAAGATGGAGGGAGAAGATGG	0.428																																						ENST00000591761.1																			0																				69.0	71.0	70.0					20																	21143658		1972	4164	6136			0							g.chr20:21143658G>A																													20.37:g.21143658G>A						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.428	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			17	24	0	0	0	1	0	17	24				
C8orf76	84933	broad.mit.edu	37	8	124232519	124232519	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:124232519G>A	ENST00000276704.4	-	6	1018	c.967C>T	c.(967-969)Cca>Tca	p.P323S		NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	323										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTTTCTGGGATATCTTCT	0.418																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(967-969)Cca>Tca		chromosome 8 open reading frame 76							61.0	51.0	55.0					8																	124232519		2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124232519G>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.967C>T	8.37:g.124232519G>A	ENSP00000276704:p.Pro323Ser						p.P323S	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		6	1018	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		323					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.967C>T	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526134	0.64860	.	.	ENSG00000189376	ENST00000276704	.	.	.	6.02	6.02	0.97574	.	0.047110	0.85682	D	0.000000	T	0.73513	0.3596	M	0.63428	1.95	0.52099	D	0.999946	D	0.63046	0.992	P	0.56865	0.808	T	0.73244	-0.4044	9	0.52906	T	0.07	-14.3349	17.4575	0.87611	0.0:0.0:1.0:0.0	.	323	Q96K31	CH076_HUMAN	S	323	.	ENSP00000276704:P323S	P	-	1	0	C8orf76	124301700	1.000000	0.71417	0.943000	0.38184	0.555000	0.35460	5.489000	0.66875	2.865000	0.98341	0.655000	0.94253	CCA		0.418	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		4	14	0	0	0	1	0	4	14				
PPIP5K2	23262	broad.mit.edu	37	5	102494905	102494905	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:102494905G>A	ENST00000358359.3	+	17	2302	c.1793G>A	c.(1792-1794)aGt>aAt	p.S598N	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S598N|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.S598N	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	598					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGTGAAAAGTGCAAATATG	0.368																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1792-1794)aGt>aAt		diphosphoinositol pentakisphosphate kinase 2							116.0	115.0	116.0					5																	102494905		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102494905G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1793G>A	5.37:g.102494905G>A	ENSP00000351126:p.Ser598Asn					PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S598N|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S598N	p.S598N			O43314	VIP2_HUMAN			17	2366	+			598					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.1793G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.295794	0.95574	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15372	2.43;2.43;2.43	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	M	0.63843	1.955	0.80722	D	1	P;P	0.41345	0.746;0.597	P;P	0.47044	0.535;0.53	T	0.01795	-1.1272	10	0.72032	D	0.01	.	19.7516	0.96271	0.0:0.0:1.0:0.0	.	598;598	O43314-2;O43314	.;VIP2_HUMAN	N	598	ENSP00000313070:S598N;ENSP00000351126:S598N;ENSP00000416016:S598N	ENSP00000313070:S598N	S	+	2	0	PPIP5K2	102522804	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.776000	0.99001	2.744000	0.94065	0.591000	0.81541	AGT		0.368	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		13	71	0	0	0	1	0	13	71				
PRDM16	63976	broad.mit.edu	37	1	3301793	3301793	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:3301793C>T	ENST00000270722.5	+	4	565	c.516C>T	c.(514-516)atC>atT	p.I172I	PRDM16_ENST00000378398.3_Silent_p.I172I|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Silent_p.I172I|PRDM16_ENST00000378391.2_Silent_p.I172I|PRDM16_ENST00000511072.1_Silent_p.I173I|PRDM16_ENST00000442529.2_Silent_p.I172I|PRDM16_ENST00000514189.1_Silent_p.I173I			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	172	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCAAGTACATCCGTGTGGCGT	0.582			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(514-516)atC>atT		PR domain containing 16							97.0	110.0	106.0					1																	3301793		2176	4269	6445	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3301793C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.516C>T	1.37:g.3301793C>T						PRDM16_ENST00000442529.2_Silent_p.I172I|PRDM16_ENST00000441472.2_Silent_p.I172I|PRDM16_ENST00000514189.1_Silent_p.I173I|PRDM16_ENST00000511072.1_Silent_p.I173I|PRDM16_ENST00000270722.5_Silent_p.I172I|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.I172I	p.I172I			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	4	598	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	172			SET.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.516C>T	CCDS41236.2																																																																																				0.582	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		20	60	0	0	0	1	0	20	60				
SULF2	55959	broad.mit.edu	37	20	46295066	46295066	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:46295066G>A	ENST00000359930.4	-	12	2594	c.1743C>T	c.(1741-1743)gaC>gaT	p.D581D	SULF2_ENST00000484875.1_Silent_p.D581D|SULF2_ENST00000467815.1_Silent_p.D581D|SULF2_ENST00000361612.4_Silent_p.D581D	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	581					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 fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGCCACTGAAGTCCCCACCAT	0.617																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1741-1743)gaC>gaT		sulfatase 2							110.0	110.0	110.0					20																	46295066		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46295066G>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1743C>T	20.37:g.46295066G>A						SULF2_ENST00000467815.1_Silent_p.D581D|SULF2_ENST00000361612.4_Silent_p.D581D|SULF2_ENST00000484875.1_Silent_p.D581D	p.D581D	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			12	2594	-			581					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.1743C>T	CCDS13408.1																																																																																				0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		4	73	0	0	0	1	0	4	73				
ZNF208	7757	broad.mit.edu	37	19	22171595	22171595	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:22171595C>T	ENST00000397126.4	-	2	268	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ZNF208_ENST00000597040.1_Silent_p.L8L|ZNF208_ENST00000601773.1_Silent_p.L40L|ZNF208_ENST00000599916.1_Silent_p.L40L	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCAGGAAGACCAGGTTTCTGT	0.423																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(118-120)ctG>ctA		zinc finger protein 208							135.0	147.0	143.0					19																	22171595		2203	4297	6500	SO:0001819	synonymous_variant	7757							g.chr19:22171595C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.120G>A	19.37:g.22171595C>T						ZNF208_ENST00000601773.1_Silent_p.L40L|ZNF208_ENST00000599916.1_Silent_p.L40L|ZNF208_ENST00000597040.1_Silent_p.L8L	p.L40L	NM_007153.3	NP_009084.2					2	268	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.120G>A	CCDS54240.1																																																																																				0.423	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		54	137	0	0	0	1	0	54	137				
TRPS1	7227	broad.mit.edu	37	8	116631420	116631420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:116631420C>T	ENST00000220888.5	-	2	1025	c.866G>A	c.(865-867)gGt>gAt	p.G289D	TRPS1_ENST00000519076.1_Missense_Mutation_p.G243D|TRPS1_ENST00000519674.1_Missense_Mutation_p.G289D|TRPS1_ENST00000520276.1_Missense_Mutation_p.G293D|TRPS1_ENST00000395715.3_Missense_Mutation_p.G302D			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	289					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)			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)			CTGCAGCACACCAGAAAACAC	0.428									Langer-Giedion syndrome																													ENST00000395715.3																			0				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						c.(904-906)gGt>gAt		trichorhinophalangeal syndrome I							91.0	85.0	87.0					8																	116631420		1910	4142	6052	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631420C>T	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.866G>A	8.37:g.116631420C>T	ENSP00000220888:p.Gly289Asp					TRPS1_ENST00000519076.1_Missense_Mutation_p.G243D|TRPS1_ENST00000519674.1_Missense_Mutation_p.G289D|TRPS1_ENST00000220888.5_Missense_Mutation_p.G289D|TRPS1_ENST00000520276.1_Missense_Mutation_p.G293D	p.G302D	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1482	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		289					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.905G>A		.	.	.	.	.	.	.	.	.	.	C	17.32	3.360593	0.61403	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.41	5.41	0.78517	.	0.187922	0.46145	D	0.000301	D	0.86024	0.5834	N	0.24115	0.695	0.53688	D	0.999977	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.71870	0.961;0.946;0.975	D	0.88101	0.2819	10	0.87932	D	0	.	19.1937	0.93677	0.0:1.0:0.0:0.0	.	293;289;302	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	D	302;289;243;293;289	ENSP00000379065:G302D;ENSP00000220888:G289D;ENSP00000428910:G243D;ENSP00000428680:G293D;ENSP00000429174:G289D	ENSP00000220888:G289D	G	-	2	0	TRPS1	116700595	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.965000	0.56788	2.542000	0.85734	0.460000	0.39030	GGT		0.428	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		14	34	0	0	0	1	0	14	34				
ATP2A2	488	broad.mit.edu	37	12	110770427	110770427	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:110770427G>A	ENST00000539276.2	+	9	1230	c.1121G>A	c.(1120-1122)gGt>gAt	p.G374D	ATP2A2_ENST00000395494.2_Missense_Mutation_p.G347D|ATP2A2_ENST00000308664.6_Missense_Mutation_p.G374D			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	374	Interacts with phospholamban 1. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGAGTGGAAGGTGATACTTGT	0.388																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1039-1041)gGt>gAt		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							201.0	200.0	200.0					12																	110770427		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110770427G>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1121G>A	12.37:g.110770427G>A	ENSP00000440045:p.Gly374Asp					ATP2A2_ENST00000539276.2_Missense_Mutation_p.G374D|ATP2A2_ENST00000308664.6_Missense_Mutation_p.G374D	p.G347D			P16615	AT2A2_HUMAN			8	1603	+			374					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.1040G>A	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533838	0.64972	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.82893	-1.66;-1.66;-1.66	5.31	5.31	0.75309	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	0.150069	0.64402	D	0.000015	T	0.80949	0.4722	L	0.51914	1.62	0.51482	D	0.99992	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.12156	0.007;0.002;0.003	T	0.75230	-0.3391	10	0.39692	T	0.17	.	19.3386	0.94332	0.0:0.0:1.0:0.0	.	347;374;374	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	D	374;347;374	ENSP00000311186:G374D;ENSP00000378872:G347D;ENSP00000440045:G374D	ENSP00000311186:G374D	G	+	2	0	ATP2A2	109254810	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.577000	0.74027	2.644000	0.89710	0.460000	0.39030	GGT		0.388	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		10	233	0	0	0	1	0	10	233				
GKN2	200504	broad.mit.edu	37	2	69177837	69177837	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69177837G>A	ENST00000328895.4	-	2	171	c.63C>T	c.(61-63)taC>taT	p.Y21Y	GKN2_ENST00000481498.1_Silent_p.Y21Y	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	21						extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AACTCACCTCGTATCCATGAG	0.458																																						ENST00000481498.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						c.(61-63)taC>taT		gastrokine 2							154.0	145.0	148.0					2																	69177837		2203	4300	6503	SO:0001819	synonymous_variant	200504					extracellular region		g.chr2:69177837G>A	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.63C>T	2.37:g.69177837G>A						GKN2_ENST00000328895.4_Silent_p.Y21Y	p.Y21Y			Q86XP6	GKN2_HUMAN			2	81	-			21					Q6UWS6	Silent	SNP	ENST00000328895.4	37	c.63C>T	CCDS33215.1																																																																																				0.458	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		25	34	0	0	0	1	0	25	34				
DPH7	92715	broad.mit.edu	37	9	140449846	140449846	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140449846C>T	ENST00000277540.2	-	9	1361	c.1204G>A	c.(1204-1206)Ggc>Agc	p.G402S	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	402					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												TTCCTCATGCCCTCTGTGAGT	0.587																																						ENST00000277540.2																			0											c.(1204-1206)Ggc>Agc		diphthamide biosynthesis 7							158.0	124.0	136.0					9																	140449846		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140449846C>T	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.1204G>A	9.37:g.140449846C>T	ENSP00000277540:p.Gly402Ser					DPH7_ENST00000479650.1_5'UTR	p.G402S	NM_138778.2	NP_620133.1					9	1361	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.1204G>A	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	C	0.468	-0.885972	0.02511	.	.	ENSG00000148399	ENST00000277540	T	0.65916	-0.18	4.55	1.71	0.24356	.	0.775194	0.11484	N	0.559435	T	0.34221	0.0890	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22138	-1.0225	10	0.06099	T	0.92	-7.619	7.7163	0.28706	0.0:0.6489:0.1235:0.2276	.	402	Q9BTV6	WDR85_HUMAN	S	402	ENSP00000277540:G402S	ENSP00000277540:G402S	G	-	1	0	WDR85	139569667	0.000000	0.05858	0.015000	0.15790	0.006000	0.05464	0.587000	0.23909	0.022000	0.15160	-2.057000	0.00402	GGC		0.587	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		21	53	0	0	0	1	0	21	53				
ANKRD12	23253	broad.mit.edu	37	18	9258903	9258903	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:9258903C>T	ENST00000262126.4	+	9	5878	c.5638C>T	c.(5638-5640)Ccc>Tcc	p.P1880S	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.P1857S|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1857S	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1880						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P1880S(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						GGATGGAAACCCCTTAAGCAA	0.383																																						ENST00000383440.2																			1	Substitution - Missense(1)	p.P1880S(1)	large_intestine(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						c.(5569-5571)Ccc>Tcc		ankyrin repeat domain 12							97.0	95.0	96.0					18																	9258903		2202	4297	6499	SO:0001583	missense	23253					nucleus		g.chr18:9258903C>T	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.5638C>T	18.37:g.9258903C>T	ENSP00000262126:p.Pro1880Ser					ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1857S|ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1880S	p.P1857S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	5826	+			1880					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.5569C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889236	0.91889	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.67698	-0.28;-0.28	5.44	5.44	0.79542	.	0.116868	0.64402	D	0.000015	T	0.78168	0.4241	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.79165	-0.1916	10	0.72032	D	0.01	-8.3714	19.6223	0.95663	0.0:1.0:0.0:0.0	.	1857;1880	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	S	1857;1880	ENSP00000372932:P1857S;ENSP00000262126:P1880S	ENSP00000262126:P1880S	P	+	1	0	ANKRD12	9248903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.707000	0.92482	0.655000	0.94253	CCC		0.383	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		6	141	0	0	0	1	0	6	141				
NCAM1	4684	broad.mit.edu	37	11	113078656	113078656	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113078656C>T	ENST00000533760.1	+	7	1093	c.494C>T	c.(493-495)gCt>gTt	p.A165V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.A273V|NCAM1_ENST00000401611.2_Missense_Mutation_p.A282V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	283	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AACGACGAGGCTGAGTACATC	0.527																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(817-819)gCt>gTt		neural cell adhesion molecule 1							70.0	69.0	70.0					11																	113078656		2062	4217	6279	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078656C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.494C>T	11.37:g.113078656C>T	ENSP00000473281:p.Ala165Val					NCAM1_ENST00000401611.2_Missense_Mutation_p.A282V|NCAM1_ENST00000533760.1_Missense_Mutation_p.A165V|NCAM1_ENST00000397957.4_3'UTR	p.A273V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	6	818	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	283			Ig-like C2-type 3.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.818C>T		.	.	.	.	.	.	.	.	.	.	C	27.9	4.876998	0.91664	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.67698	-0.28;-0.28	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047285	0.85682	D	0.000000	T	0.81602	0.4857	.	.	.	0.80722	D	1	D;D;D;D;D	0.64830	0.994;0.994;0.991;0.989;0.989	P;P;P;P;P	0.61132	0.814;0.814;0.884;0.853;0.853	T	0.83223	-0.0067	9	0.87932	D	0	-9.6009	19.8599	0.96779	0.0:1.0:0.0:0.0	.	283;283;283;283;283	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	V	165;282;273	ENSP00000384055:A282V;ENSP00000318472:A273V	ENSP00000318472:A273V	A	+	2	0	NCAM1	112583866	1.000000	0.71417	0.963000	0.40424	0.703000	0.40648	5.827000	0.69300	2.710000	0.92621	0.655000	0.94253	GCT		0.527	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		3	17	0	0	0	1	0	3	17				
OIT3	170392	broad.mit.edu	37	10	74658613	74658613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:74658613C>T	ENST00000334011.5	+	2	471	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	85						nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AACCCACGCACCTGTCTGGCT	0.572																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(253-255)Cct>Tct		oncoprotein induced transcript 3							106.0	78.0	87.0					10																	74658613		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74658613C>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.253C>T	10.37:g.74658613C>T	ENSP00000333900:p.Pro85Ser						p.P85S	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			2	471	+	Prostate(51;0.0198)		85					A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.253C>T	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962918	0.92791	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.99698	-6.44	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000020	D	0.99661	0.9874	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97936	1.0323	10	0.62326	D	0.03	-13.0925	18.7444	0.91787	0.0:1.0:0.0:0.0	.	85	Q8WWZ8	OIT3_HUMAN	S	85	ENSP00000333900:P85S	ENSP00000333900:P85S	P	+	1	0	OIT3	74328619	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.562000	0.82300	2.652000	0.90054	0.655000	0.94253	CCT		0.572	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		16	33	0	0	0	1	0	16	33				
CD28	940	broad.mit.edu	37	2	204594447	204594447	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:204594447C>T	ENST00000324106.8	+	3	635	c.486C>T	c.(484-486)gtC>gtT	p.V162V	CD28_ENST00000374478.4_Silent_p.V43V|CD28_ENST00000458610.2_Silent_p.V176V|CD28_ENST00000374481.3_Silent_p.V78V	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	162					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGGTGGAGTCCTGGCTTGCT	0.443																																						ENST00000374481.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(232-234)gtC>gtT		CD28 molecule							218.0	208.0	211.0					2																	204594447		2203	4300	6503	SO:0001819	synonymous_variant	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204594447C>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.486C>T	2.37:g.204594447C>T						CD28_ENST00000458610.2_Silent_p.V176V|CD28_ENST00000324106.7_Silent_p.V162V|CD28_ENST00000374478.4_Silent_p.V43V	p.V78V			P10747	CD28_HUMAN			4	456	+			162			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Silent	SNP	ENST00000324106.8	37	c.234C>T	CCDS2361.1																																																																																				0.443	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		6	176	0	0	0	1	0	6	176				
SUGP1	57794	broad.mit.edu	37	19	19389557	19389557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19389557C>T	ENST00000247001.5	-	11	1924	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	526					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CAGGAAGTCTCCGATGAAGTG	0.587																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(1576-1578)gGa>gAa		SURP and G patch domain containing 1							43.0	36.0	39.0					19																	19389557		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19389557C>T	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1577G>A	19.37:g.19389557C>T	ENSP00000247001:p.Gly526Glu						p.G526E	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			11	1924	-			526					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1577G>A	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005671	0.93287	.	.	ENSG00000105705	ENST00000247001	T	0.35236	1.32	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66192	-0.5985	10	0.87932	D	0	.	17.4482	0.87584	0.0:1.0:0.0:0.0	.	526	Q8IWZ8	SUGP1_HUMAN	E	526	ENSP00000247001:G526E	ENSP00000247001:G526E	G	-	2	0	SUGP1	19250557	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.657000	0.83745	2.458000	0.83093	0.561000	0.74099	GGA		0.587	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		3	9	0	0	0	1	0	3	9				
ARIH2	10425	broad.mit.edu	37	3	49004693	49004693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49004693G>A	ENST00000356401.4	+	6	862	c.523G>A	c.(523-525)Gac>Aac	p.D175N	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.D175N	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	175					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCTCGTCAAGGACGGCGTGGG	0.493																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(523-525)Gac>Aac		ariadne RBR E3 ubiquitin protein ligase 2							114.0	101.0	105.0					3																	49004693		2203	4300	6503	SO:0001583	missense	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49004693G>A	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.523G>A	3.37:g.49004693G>A	ENSP00000348769:p.Asp175Asn					ARIH2_ENST00000449376.1_Missense_Mutation_p.D175N|ARIH2_ENST00000490095.1_3'UTR	p.D175N	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	6	862	+			175					Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	c.523G>A	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970128	0.74246	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790	D;D	0.83335	-1.71;-1.71	5.72	5.72	0.89469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	L	0.43152	1.355	0.80722	D	1	D;D;B	0.89917	1.0;0.993;0.091	D;D;B	0.70935	0.946;0.971;0.021	D	0.87434	0.2390	10	0.46703	T	0.11	.	19.8917	0.96932	0.0:0.0:1.0:0.0	.	182;175;175	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	N	175;175;174	ENSP00000348769:D175N;ENSP00000403222:D175N	ENSP00000348769:D175N	D	+	1	0	ARIH2	48979697	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.229000	0.95273	2.705000	0.92388	0.591000	0.81541	GAC		0.493	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		31	63	0	0	0	1	0	31	63				
LHFPL3	375612	broad.mit.edu	37	7	103969440	103969440	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:103969440C>T	ENST00000401970.2	+	1	293	c.171C>T	c.(169-171)ggC>ggT	p.G57G	LHFPL3_ENST00000535008.1_Silent_p.G71G|LHFPL3_ENST00000543266.1_Silent_p.G71G|LHFPL3_ENST00000424859.1_Silent_p.G57G			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	71						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						CGCAAGCCGGCTATTTCGGGC	0.627																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(211-213)ggC>ggT		lipoma HMGIC fusion partner-like 3							49.0	60.0	56.0					7																	103969440		2114	4274	6388	SO:0001819	synonymous_variant	375612					integral to membrane		g.chr7:103969440C>T	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.171C>T	7.37:g.103969440C>T						LHFPL3_ENST00000424859.1_Silent_p.G57G|LHFPL3_ENST00000543266.1_Silent_p.G71G|LHFPL3_ENST00000401970.2_Silent_p.G57G	p.G71G			Q86UP9	LHPL3_HUMAN			1	337	+			57					A1L383|A4D0Q5	Silent	SNP	ENST00000401970.2	37	c.213C>T																																																																																					0.627	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		20	84	0	0	0	1	0	20	84				
LARS	51520	broad.mit.edu	37	5	145524055	145524055	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:145524055C>T	ENST00000394434.2	-	17	1801	c.1635G>A	c.(1633-1635)caG>caA	p.Q545Q	LARS_ENST00000510191.1_Silent_p.Q491Q|LARS_ENST00000545646.1_Silent_p.Q499Q|LARS_ENST00000274562.9_Silent_p.Q518Q	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	545					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCTTCAAGCACTGAGATGTCT	0.363																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1633-1635)caG>caA		leucyl-tRNA synthetase	L-Leucine(DB00149)						164.0	157.0	159.0					5																	145524055		2203	4300	6503	SO:0001819	synonymous_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145524055C>T	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1635G>A	5.37:g.145524055C>T						LARS_ENST00000274562.9_Silent_p.Q518Q|LARS_ENST00000545646.1_Silent_p.Q499Q|LARS_ENST00000510191.1_Silent_p.Q491Q	p.Q545Q	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	1801	-			545					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	c.1635G>A	CCDS34265.1																																																																																				0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		4	84	0	0	0	1	0	4	84				
UNC5D	137970	broad.mit.edu	37	8	35616886	35616886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:35616886C>T	ENST00000404895.2	+	14	2540	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S	UNC5D_ENST00000453357.2_Missense_Mutation_p.P733S|UNC5D_ENST00000287272.2_Missense_Mutation_p.P669S|UNC5D_ENST00000449677.1_Missense_Mutation_p.P314S|UNC5D_ENST00000416672.1_Missense_Mutation_p.P743S|UNC5D_ENST00000420357.1_Missense_Mutation_p.P671S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	738					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTGGAAGAACCAAAATTGCT	0.393																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(2005-2007)Cca>Tca		unc-5 homolog D (C. elegans)							169.0	163.0	165.0					8																	35616886		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35616886C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2212C>T	8.37:g.35616886C>T	ENSP00000385143:p.Pro738Ser					UNC5D_ENST00000453357.2_Missense_Mutation_p.P733S|UNC5D_ENST00000449677.1_Missense_Mutation_p.P314S|UNC5D_ENST00000404895.2_Missense_Mutation_p.P738S|UNC5D_ENST00000420357.1_Missense_Mutation_p.P671S|UNC5D_ENST00000416672.1_Missense_Mutation_p.P743S	p.P669S			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2025	+			738					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2005C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749234	0.89753	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.55930	0.52;0.93;0.91;0.52;0.49;2.39	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.74827	-0.3532	10	0.87932	D	0	-12.6796	19.4816	0.95013	0.0:1.0:0.0:0.0	.	314;733;738	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	S	738;671;669;743;733;314	ENSP00000385143:P738S;ENSP00000392739:P671S;ENSP00000287272:P669S;ENSP00000412652:P743S;ENSP00000394303:P733S;ENSP00000397211:P314S	ENSP00000287272:P669S	P	+	1	0	UNC5D	35736428	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.722000	0.84778	2.667000	0.90743	0.561000	0.74099	CCA		0.393	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			32	85	0	0	0	1	0	32	85				
EDEM3	80267	broad.mit.edu	37	1	184702035	184702035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:184702035G>A	ENST00000318130.8	-	6	814	c.548C>T	c.(547-549)gCa>gTa	p.A183V	EDEM3_ENST00000367512.3_Missense_Mutation_p.A140V	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	183					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAACTGCTTTGCCATTTGGAG	0.408																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(547-549)gCa>gTa		ER degradation enhancer, mannosidase alpha-like 3							133.0	130.0	131.0					1																	184702035		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184702035G>A	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.548C>T	1.37:g.184702035G>A	ENSP00000318147:p.Ala183Val					EDEM3_ENST00000367512.3_Missense_Mutation_p.A140V	p.A183V	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			6	814	-			183					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.548C>T	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	G	35	5.423948	0.96111	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	D;D	0.87491	-2.26;-2.26	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97178	0.9849	10	0.87932	D	0	.	17.9323	0.89000	0.0:0.0:1.0:0.0	.	183;140	Q9BZQ6;B7ZLZ2	EDEM3_HUMAN;.	V	183;140	ENSP00000318147:A183V;ENSP00000356482:A140V	ENSP00000318147:A183V	A	-	2	0	EDEM3	182968658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.731000	0.98807	2.237000	0.73441	0.650000	0.86243	GCA		0.408	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		10	70	0	0	0	1	0	10	70				
ST3GAL2	6483	broad.mit.edu	37	16	70432331	70432331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:70432331G>A	ENST00000393640.4	-	1	2210	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.P35S|ST3GAL2_ENST00000566097.1_5'Flank			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	35					amino sugar metabolic process (GO:0006040)|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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCCAGGTAGGGGAGCGTGGCC	0.652																																						ENST00000393640.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(103-105)Ccc>Tcc		ST3 beta-galactoside alpha-2,3-sialyltransferase 2							73.0	63.0	67.0					16																	70432331		2198	4300	6498	SO:0001583	missense	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70432331G>A	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.103C>T	16.37:g.70432331G>A	ENSP00000377257:p.Pro35Ser					RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.P35S	p.P35S			Q16842	SIA4B_HUMAN			1	2210	-		Ovarian(137;0.0694)	35					O00654	Missense_Mutation	SNP	ENST00000393640.4	37	c.103C>T	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	G	7.071	0.568335	0.13560	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.16073	2.37;2.37	5.13	4.17	0.49024	.	0.289946	0.39687	N	0.001299	T	0.08179	0.0204	N	0.14661	0.345	0.42695	D	0.993594	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	10	0.16420	T	0.52	-4.7058	6.4824	0.22069	0.0967:0.1857:0.7176:0.0	.	35	Q16842	SIA4B_HUMAN	S	35	ENSP00000345477:P35S;ENSP00000377257:P35S	ENSP00000345477:P35S	P	-	1	0	ST3GAL2	68989832	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.864000	0.39469	2.391000	0.81399	0.561000	0.74099	CCC		0.652	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		16	34	0	0	0	1	0	16	34				
ATP13A3	79572	broad.mit.edu	37	3	194150800	194150800	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:194150800C>T	ENST00000439040.1	-	26	3569		c.e26+1		ATP13A3_ENST00000256031.4_Splice_Site			Q9H7F0	AT133_HUMAN	ATPase type 13A3							integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATTTGTACTACCTGATAAGGT	0.373																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.e26+1		ATPase type 13A3							39.0	39.0	39.0					3																	194150800		1843	4092	5935	SO:0001630	splice_region_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194150800C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2777+1G>A	3.37:g.194150800C>T						ATP13A3_ENST00000256031.4_Splice_Site				Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	26	3569	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)						Q8NC11|Q96KS1	Splice_Site	SNP	ENST00000439040.1	37		CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224323	0.79576	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7199	0.91689	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP13A3	195632089	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.651000	0.83577	2.731000	0.93534	0.591000	0.81541	.		0.373	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	Intron	4	20	0	0	0	1	0	4	20				
CNDP2	55748	broad.mit.edu	37	18	72176164	72176164	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:72176164G>A	ENST00000324262.4	+	5	772		c.e5+1		CNDP2_ENST00000579847.1_Splice_Site|CNDP2_ENST00000324301.8_Intron	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)						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)			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)		AACAGGCCAGGTATGCCCCCC	0.537																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.e5+1		CNDP dipeptidase 2 (metallopeptidase M20 family)							59.0	54.0	56.0					18																	72176164		2203	4300	6503	SO:0001630	splice_region_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72176164G>A	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.456+1G>A	18.37:g.72176164G>A						CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Splice_Site		NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	5	772	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)						B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Splice_Site	SNP	ENST00000324262.4	37		CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244151	0.39697	.	.	ENSG00000133313	ENST00000324262	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9613	0.92678	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNDP2	70327144	1.000000	0.71417	0.991000	0.47740	0.116000	0.19942	9.347000	0.97059	2.545000	0.85829	0.561000	0.74099	.		0.537	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	Intron	13	8	0	0	0	1	0	13	8				
ZW10	9183	broad.mit.edu	37	11	113604468	113604468	+	Missense_Mutation	SNP	G	G	A	rs145667481		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113604468G>A	ENST00000200135.3	-	16	2432	c.2288C>T	c.(2287-2289)gCc>gTc	p.A763V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	763					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CTGAAACAAGGCACGAATTAA	0.423																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(2287-2289)gCc>gTc		zw10 kinetochore protein							105.0	101.0	102.0					11																	113604468		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113604468G>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2288C>T	11.37:g.113604468G>A	ENSP00000200135:p.Ala763Val						p.A763V	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	16	2432	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	763					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.2288C>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	36	5.705408	0.96812	.	.	ENSG00000086827	ENST00000200135	T	0.69685	-0.42	5.58	5.58	0.84498	.	0.049371	0.85682	D	0.000000	D	0.84938	0.5583	M	0.88241	2.94	0.80722	D	1	D	0.55605	0.972	D	0.67231	0.95	D	0.86825	0.2007	10	0.62326	D	0.03	-5.1116	19.5534	0.95331	0.0:0.0:1.0:0.0	.	763	O43264	ZW10_HUMAN	V	763	ENSP00000200135:A763V	ENSP00000200135:A763V	A	-	2	0	ZW10	113109678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.610000	0.88304	0.591000	0.81541	GCC		0.423	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		21	43	0	0	0	1	0	21	43				
OSR2	116039	broad.mit.edu	37	8	99961327	99961327	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:99961327G>A	ENST00000297565.4	+	2	643	c.147G>A	c.(145-147)atG>atA	p.M49I	OSR2_ENST00000522510.1_Missense_Mutation_p.M49I|OSR2_ENST00000457907.2_Missense_Mutation_p.M170I|OSR2_ENST00000435298.2_Missense_Mutation_p.M49I|OSR2_ENST00000523368.1_Missense_Mutation_p.M49I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	49					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TACAGACCATGCACATGAACC	0.642																																						ENST00000297565.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(145-147)atG>atA		odd-skipped related transciption factor 2							49.0	55.0	53.0					8																	99961327		2082	4211	6293	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961327G>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.147G>A	8.37:g.99961327G>A	ENSP00000297565:p.Met49Ile					OSR2_ENST00000523368.1_Missense_Mutation_p.M49I|OSR2_ENST00000435298.2_Missense_Mutation_p.M49I|OSR2_ENST00000522510.1_Missense_Mutation_p.M49I|OSR2_ENST00000457907.2_Missense_Mutation_p.M170I	p.M49I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	643	+	Breast(36;4.14e-07)		49					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.147G>A	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988320	0.53934	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.07114	3.37;3.38;3.6;3.38;3.22;3.44;3.61	3.9	3.9	0.45041	.	0.040634	0.85682	D	0.000000	T	0.07234	0.0183	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.18968	0.032;0.006;0.032;0.01	B;B;B;B	0.12156	0.007;0.002;0.007;0.005	T	0.33727	-0.9857	9	.	.	.	-13.4876	17.1937	0.86887	0.0:0.0:1.0:0.0	.	170;49;49;49	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	I	49;49;49;49;170;102;49	ENSP00000430041:M49I;ENSP00000297565:M49I;ENSP00000402862:M49I;ENSP00000430780:M49I;ENSP00000414657:M170I;ENSP00000430074:M102I;ENSP00000429910:M49I	.	M	+	3	0	OSR2	100030503	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.757000	0.85209	2.470000	0.83445	0.655000	0.94253	ATG		0.642	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		3	37	0	0	0	1	0	3	37				
MAPK10	5602	broad.mit.edu	37	4	87022303	87022303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:87022303G>A	ENST00000359221.3	-	8	1158	c.632C>T	c.(631-633)gCc>gTc	p.A211V	MAPK10_ENST00000395157.3_Missense_Mutation_p.A66V|MAPK10_ENST00000395161.2_Missense_Mutation_p.A211V|MAPK10_ENST00000395166.1_Missense_Mutation_p.A173V|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000361569.2_Missense_Mutation_p.A211V|MAPK10_ENST00000449047.2_Missense_Mutation_p.A66V|MAPK10_ENST00000395169.3_Missense_Mutation_p.A173V|MAPK10_ENST00000395160.3_Missense_Mutation_p.A66V			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TGCTGTCCTGGCCAGTCCAAA	0.443																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.(517-519)gCc>gTc		mitogen-activated protein kinase 10							115.0	97.0	103.0					4																	87022303		2203	4300	6503	SO:0001583	missense	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87022303G>A	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.632C>T	4.37:g.87022303G>A	ENSP00000352157:p.Ala211Val					MAPK10_ENST00000395161.2_Missense_Mutation_p.A211V|MAPK10_ENST00000395166.1_Missense_Mutation_p.A173V|MAPK10_ENST00000449047.2_Missense_Mutation_p.A66V|MAPK10_ENST00000395160.3_Missense_Mutation_p.A66V|MAPK10_ENST00000361569.2_Missense_Mutation_p.A211V|MAPK10_ENST00000359221.3_Missense_Mutation_p.A211V|MAPK10_ENST00000395157.3_Missense_Mutation_p.A66V	p.A173V	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	8	1238	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	211			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.518C>T	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	G	36	5.872370	0.97049	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	D;D;D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097381	0.64402	D	0.000001	D	0.94964	0.8371	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.76575	0.978;0.968;0.978;0.979;0.988	D	0.94879	0.8037	10	0.87932	D	0	-5.7976	20.1346	0.98019	0.0:0.0:1.0:0.0	.	97;66;173;211;211	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.;.;.;.;MK10_HUMAN	V	173;211;66;211;173;66;66;211	ENSP00000378598:A173V;ENSP00000352157:A211V;ENSP00000378586:A66V;ENSP00000355297:A211V;ENSP00000378595:A173V;ENSP00000378589:A66V;ENSP00000414469:A66V;ENSP00000378590:A211V	ENSP00000352157:A211V	A	-	2	0	MAPK10	87241327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.763000	0.94921	0.557000	0.71058	GCC		0.443	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			13	35	0	0	0	1	0	13	35				
TTN	7273	broad.mit.edu	37	2	179634464	179634464	+	Silent	SNP	C	C	T	rs531976829		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179634464C>T	ENST00000591111.1	-	37	9068	c.8844G>A	c.(8842-8844)tcG>tcA	p.S2948S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.S2902S|TTN_ENST00000589042.1_Silent_p.S2948S|TTN_ENST00000460472.2_Silent_p.S2902S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.S2902S|TTN_ENST00000342992.6_Silent_p.S2948S|TTN_ENST00000360870.5_Silent_p.S2948S			Q8WZ42	TITIN_HUMAN	titin	13278	Ig-like 16.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATTCTGCCGAGTCCTCTG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		10776	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8842-8844)tcG>tcA		titin							150.0	148.0	148.0					2																	179634464		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634464C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8844G>A	2.37:g.179634464C>T						TTN_ENST00000591111.1_Silent_p.S2948S|TTN_ENST00000342175.6_Silent_p.S2902S|TTN_ENST00000360870.5_Silent_p.S2948S|TTN_ENST00000460472.2_Silent_p.S2902S|TTN_ENST00000359218.5_Silent_p.S2902S|TTN_ENST00000342992.6_Silent_p.S2948S|TTN-AS1_ENST00000585451.1_RNA	p.S2948S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		37	9068	-			2686			Ig-like 16.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.8844G>A																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	59	0	0	0	1	0	29	59				
RUSC2	9853	broad.mit.edu	37	9	35555179	35555179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:35555179C>T	ENST00000455600.1	+	3	2706	c.2137C>T	c.(2137-2139)Ctc>Ttc	p.L713F		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	713						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCGGGCCCTCCACAGCCT	0.637																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2137-2139)Ctc>Ttc		RUN and SH3 domain containing 2							57.0	61.0	60.0					9																	35555179		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35555179C>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2137C>T	9.37:g.35555179C>T	ENSP00000393922:p.Leu713Phe						p.L713F	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2706	+			713					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2137C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847563	0.71603	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.33438	1.41;1.41	4.83	4.83	0.62350	.	0.147942	0.46758	D	0.000263	T	0.41696	0.1170	L	0.32530	0.975	0.43540	D	0.995839	D	0.65815	0.995	P	0.59221	0.854	T	0.32929	-0.9888	10	0.59425	D	0.04	-4.3919	17.24	0.87010	0.0:1.0:0.0:0.0	.	713	Q8N2Y8	RUSC2_HUMAN	F	713	ENSP00000355177:L713F;ENSP00000393922:L713F	ENSP00000355177:L713F	L	+	1	0	RUSC2	35545179	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	3.368000	0.52357	2.389000	0.81357	0.563000	0.77884	CTC		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		5	82	0	0	0	1	0	5	82				
ERCC4	2072	broad.mit.edu	37	16	14042119	14042119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:14042119G>A	ENST00000311895.7	+	11	2675	c.2666G>A	c.(2665-2667)gGg>gAg	p.G889E		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	889	HhH2, dimerization with ERCC1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGTATTCTGGGGAATGCTGCA	0.458			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(2665-2667)gGg>gAg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							93.0	92.0	93.0					16																	14042119		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14042119G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2666G>A	16.37:g.14042119G>A	ENSP00000310520:p.Gly889Glu						p.G889E	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			11	2675	+			889			Interaction with EME1 and ERCC1.		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.2666G>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686267	0.88639	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.21361	2.01	6.16	6.16	0.99307	RuvA domain 2-like (1);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	M	0.87269	2.87	0.80722	D	1	D	0.55605	0.972	P	0.50490	0.642	T	0.42783	-0.9431	10	0.46703	T	0.11	-35.0072	19.848	0.96722	0.0:0.0:1.0:0.0	.	889	Q92889	XPF_HUMAN	E	889;877	ENSP00000310520:G889E	ENSP00000310520:G889E	G	+	2	0	ERCC4	13949620	1.000000	0.71417	0.982000	0.44146	0.805000	0.45488	9.209000	0.95087	2.937000	0.99478	0.650000	0.86243	GGG		0.458	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		20	93	0	0	0	1	0	20	93				
HIST2H2AC	8338	broad.mit.edu	37	1	149858761	149858761	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:149858761C>T	ENST00000331380.2	+	1	237	c.237C>T	c.(235-237)atC>atT	p.I79I	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	79						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGACGCGCATCATCCCTCGTC	0.647																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(235-237)atC>atT		histone cluster 2, H2ac							54.0	57.0	56.0					1																	149858761		2203	4296	6499	SO:0001819	synonymous_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858761C>T	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.237C>T	1.37:g.149858761C>T							p.I79I	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	237	+	Breast(34;0.0124)|all_hematologic(923;0.127)		79					Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	c.237C>T	CCDS937.1																																																																																				0.647	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		9	91	0	0	0	1	0	9	91				
CCDC129	223075	broad.mit.edu	37	7	31618007	31618007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:31618007C>T	ENST00000407970.3	+	8	1167	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	CCDC129_ENST00000409210.1_Missense_Mutation_p.H285Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.H403Y|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	377			H -> R (in dbSNP:rs10252720). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAGCTTGTCTCATCTTGCAGG	0.498																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(853-855)Cat>Tat		coiled-coil domain containing 129							48.0	47.0	47.0					7																	31618007		1991	4168	6159	SO:0001583	missense	223075							g.chr7:31618007C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1129C>T	7.37:g.31618007C>T	ENSP00000384416:p.His377Tyr					CCDC129_ENST00000407970.3_Missense_Mutation_p.H377Y|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.H403Y	p.H285Y			Q6ZRS4	CC129_HUMAN			6	1037	+			377					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.853C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	3.501	-0.101776	0.06967	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.18174	2.48;2.48;2.23	5.61	-1.01	0.10169	.	.	.	.	.	T	0.09113	0.0225	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.10450	0.005;0.005;0.005	T	0.40175	-0.9577	8	.	.	.	0.166	6.8041	0.23768	0.0:0.3082:0.3864:0.3055	.	403;387;377	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	Y	377;403;387;285	ENSP00000384416:H377Y;ENSP00000395835:H403Y;ENSP00000387214:H285Y	.	H	+	1	0	CCDC129	31584532	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.681000	0.01937	-0.148000	0.11234	0.655000	0.94253	CAT		0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		24	41	0	0	0	1	0	24	41				
HELZ2	85441	broad.mit.edu	37	20	62192220	62192220	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:62192220G>A	ENST00000467148.1	-	15	7278	c.7209C>T	c.(7207-7209)aaC>aaT	p.N2403N	HELZ2_ENST00000427522.2_Silent_p.N1834N	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2403	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCAGACCCAGGTTTTGCAGCC	0.622																																						ENST00000467148.1																			0											c.(7207-7209)aaC>aaT		helicase with zinc finger 2, transcriptional coactivator							96.0	108.0	104.0					20																	62192220		2203	4300	6503	SO:0001819	synonymous_variant	85441							g.chr20:62192220G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7209C>T	20.37:g.62192220G>A						HELZ2_ENST00000427522.2_Silent_p.N1834N	p.N2403N	NM_001037335.2	NP_001032412.2					15	7278	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.7209C>T	CCDS33508.1																																																																																				0.622	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	113	0	0	0	1	0	6	113				
SLC25A52	147407	broad.mit.edu	37	18	29340101	29340101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:29340101C>T	ENST00000579441.2	-	1	523	c.524G>A	c.(523-525)gGc>gAc	p.G175D	SLC25A52_ENST00000269205.5_Missense_Mutation_p.G185D			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	175					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GGGCACCAAGCCTCGATAATA	0.453																																						ENST00000269205.5																			0											c.(553-555)gGc>gAc		solute carrier family 25, member 52							104.0	102.0	102.0					18																	29340101		2203	4297	6500	SO:0001583	missense	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340101C>T		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.524G>A	18.37:g.29340101C>T	ENSP00000462754:p.Gly175Asp					SLC25A52_ENST00000579441.2_Missense_Mutation_p.G175D	p.G185D	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN			1	742	-			175						Missense_Mutation	SNP	ENST00000579441.2	37	c.554G>A		.	.	.	.	.	.	.	.	.	.	C	24.0	4.481240	0.84747	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	D	0.95821	-3.82	1.22	1.22	0.21188	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98027	0.9350	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97011	0.9736	10	0.87932	D	0	.	8.3686	0.32402	0.0:1.0:0.0:0.0	.	175	Q3SY17	MCAR2_HUMAN	D	185;175	ENSP00000372612:G185D	ENSP00000372612:G185D	G	-	2	0	MCART2	27594099	1.000000	0.71417	0.800000	0.32199	0.945000	0.59286	4.925000	0.63425	0.992000	0.38840	0.505000	0.49811	GGC		0.453	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		47	105	0	0	0	1	0	47	105				
ITPRIPL1	150771	broad.mit.edu	37	2	96993064	96993064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96993064C>T	ENST00000439118.2	+	3	946	c.695C>T	c.(694-696)aCc>aTc	p.T232I	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.T224I|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.T224I|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.T240I	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	232						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCATGAGACCCAGAAATTT	0.612																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(718-720)aCc>aTc		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							39.0	42.0	41.0					2																	96993064		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993064C>T		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.695C>T	2.37:g.96993064C>T	ENSP00000389308:p.Thr232Ile					ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.T232I|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.T224I|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.T224I	p.T240I	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	1130	+			232					F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.719C>T	CCDS46360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.66|10.66	1.413759|1.413759	0.25465|0.25465	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000420728|ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	.|T;T;T;T	.|0.18338	.|2.23;2.22;2.22;2.23	5.24|5.24	2.42|2.42	0.29668|0.29668	.|.	.|0.404642	.|0.20986	.|N	.|0.082129	T|T	0.09598|0.09598	0.0236|0.0236	N|N	0.14661|0.14661	0.345|0.345	0.30616|0.30616	N|N	0.759016|0.759016	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.07947|0.07947	-1.0746|-1.0746	5|10	.|0.72032	.|D	.|0.01	-7.5042|-7.5042	8.0262|8.0262	0.30438|0.30438	0.0:0.7174:0.1321:0.1504|0.0:0.7174:0.1321:0.1504	.|.	.|240;232	.|Q6GPH6-2;Q6GPH6	.|.;IPIL1_HUMAN	S|I	264|224;232;240;224	.|ENSP00000439566:T224I;ENSP00000389308:T232I;ENSP00000355121:T240I;ENSP00000438212:T224I	.|ENSP00000355121:T240I	P|T	+|+	1|2	0|0	ITPRIPL1|ITPRIPL1	96356791|96356791	0.934000|0.934000	0.31675|0.31675	0.992000|0.992000	0.48379|0.48379	0.992000|0.992000	0.81027|0.81027	1.968000|1.968000	0.40500|0.40500	0.768000|0.768000	0.33290|0.33290	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.612	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		4	75	0	0	0	1	0	4	75				
PARD6A	50855	broad.mit.edu	37	16	67696326	67696326	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67696326C>T	ENST00000219255.3	+	3	897	c.817C>T	c.(817-819)Cct>Tct	p.P273S	ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000458121.2_Missense_Mutation_p.P272S|ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000602551.1_Missense_Mutation_p.P243S			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	273					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)		AGGGCCTGGGCCTGCTGAGCC	0.612																																						ENST00000458121.2																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(814-816)Cct>Tct		par-6 family cell polarity regulator alpha							78.0	65.0	70.0					16																	67696326		2198	4300	6498	SO:0001583	missense	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67696326C>T		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.817C>T	16.37:g.67696326C>T	ENSP00000219255:p.Pro273Ser					PARD6A_ENST00000219255.3_Missense_Mutation_p.P273S|PARD6A_ENST00000602551.1_Missense_Mutation_p.P243S	p.P272S	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	905	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	273					O14911|Q9NPJ7	Missense_Mutation	SNP	ENST00000219255.3	37	c.814C>T	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325180	0.24080	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.37411	1.2;1.2	5.25	4.23	0.50019	.	0.074307	0.56097	D	0.000038	T	0.29093	0.0723	L	0.46819	1.47	0.28175	N	0.928395	B;B	0.32968	0.272;0.392	B;B	0.30495	0.054;0.116	T	0.24476	-1.0159	10	0.06365	T	0.9	-3.3528	17.0974	0.86639	0.0:0.8623:0.1377:0.0	.	273;272	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	S	272;273	ENSP00000392388:P272S;ENSP00000219255:P273S	ENSP00000219255:P273S	P	+	1	0	PARD6A	66253827	0.973000	0.33851	1.000000	0.80357	0.948000	0.59901	1.430000	0.34914	2.428000	0.82296	0.563000	0.77884	CCT		0.612	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948		8	36	0	0	0	1	0	8	36				
PRUNE2	158471	broad.mit.edu	37	9	79259654	79259654	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:79259654C>T	ENST00000376718.3	-	12	8852		c.e12+1		PRUNE2_ENST00000223609.6_Splice_Site|PRUNE2_ENST00000443509.2_Splice_Site|PRUNE2_ENST00000428286.1_Splice_Site|PRUNE2_ENST00000466266.2_Splice_Site	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCTCGACTACCTCCGTGAGA	0.483																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.e12+1		prune homolog 2 (Drosophila)							105.0	90.0	94.0					9																	79259654		1568	3582	5150	SO:0001630	splice_region_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79259654C>T	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.8728+1G>A	9.37:g.79259654C>T						PRUNE2_ENST00000466266.2_Splice_Site|PRUNE2_ENST00000443509.2_Splice_Site|PRUNE2_ENST00000376718.3_Splice_Site|PRUNE2_ENST00000223609.6_Splice_Site				Q8WUY3	PRUN2_HUMAN			12	8855	-								B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Splice_Site	SNP	ENST00000376718.3	37		CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.78|16.78	3.217465|3.217465	0.58560|0.58560	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000426088;ENST00000443509;ENST00000424866;ENST00000223609|ENST00000441554;ENST00000422033	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|.	.|.	.|.	.|.	.|D	.|0.84129	.|0.5404	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.84599	.|0.0671	.|7	.|0.87932	.|D	.|0	.|.	20.6244|20.6244	0.99512|0.99512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2911	.|Q8WUY3-3	.|.	.|D	-1|128;2910	.|.	.|ENSP00000395229:G2910D	.|G	-|-	.|2	.|0	PRUNE2|PRUNE2	78449474|78449474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.450000|0.450000	0.32258|0.32258	7.487000|7.487000	0.81328|0.81328	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	.|GGT		0.483	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	Intron	14	31	0	0	0	1	0	14	31				
LRRC16A	55604	broad.mit.edu	37	6	25606379	25606379	+	Missense_Mutation	SNP	G	G	A	rs373639329		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:25606379G>A	ENST00000329474.6	+	35	4093	c.3725G>A	c.(3724-3726)gGc>gAc	p.G1242D		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1242					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGGAAGCAGGCTCCAGGTCT	0.567																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3724-3726)gGc>gAc		leucine rich repeat containing 16A		G	ASP/GLY,ASP/GLY	1,3851		0,1,1925	59.0	68.0	65.0		3707,3725	4.0	0.0	6		65	0,8276		0,0,4138	no	missense,missense	LRRC16A	NM_001173977.1,NM_017640.5	94,94	0,1,6063	AA,AG,GG		0.0,0.026,0.0082	possibly-damaging,possibly-damaging	1236/1366,1242/1372	25606379	1,12127	1926	4138	6064	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25606379G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3725G>A	6.37:g.25606379G>A	ENSP00000331983:p.Gly1242Asp						p.G1242D	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			35	4093	+			1242					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3725G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	8.590	0.884356	0.17467	2.6E-4	0.0	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.15718	2.4	5.85	4.02	0.46733	.	0.340667	0.30085	N	0.010456	T	0.06781	0.0173	L	0.51422	1.61	0.21445	N	0.999685	B;B;B	0.26258	0.046;0.145;0.119	B;B;B	0.34180	0.046;0.064;0.177	T	0.38802	-0.9644	10	0.12103	T	0.63	-5.111	12.5668	0.56314	0.0:0.2368:0.6402:0.1229	.	1242;1236;1197	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	D	1242;1197	ENSP00000331983:G1242D	ENSP00000331983:G1242D	G	+	2	0	LRRC16A	25714358	0.645000	0.27286	0.037000	0.18230	0.176000	0.22953	2.195000	0.42677	0.763000	0.33175	0.655000	0.94253	GGC		0.567	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		19	33	0	0	0	1	0	19	33				
HS2ST1	9653	broad.mit.edu	37	1	87549877	87549877	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:87549877G>A	ENST00000370550.5	+	3	727	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	RP5-1052I5.2_ENST00000370548.2_Splice_Site_p.V96M|HS2ST1_ENST00000370551.4_Splice_Site_p.V122M|HS2ST1_ENST00000356813.4_Splice_Site_p.V96M	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	122					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)			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)		CCCTTTTTAGGTGCGCTTTGT	0.303																																						ENST00000370550.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9						c.e3-1		heparan sulfate 2-O-sulfotransferase 1							81.0	80.0	81.0					1																	87549877		2203	4298	6501	SO:0001630	splice_region_variant	9653					Golgi membrane|integral to membrane		g.chr1:87549877G>A	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.364-1G>A	1.37:g.87549877G>A						RP5-1052I5.2_ENST00000370548.2_Splice_Site_p.V96_splice|HS2ST1_ENST00000356813.4_Splice_Site_p.V96_splice|HS2ST1_ENST00000370551.4_Splice_Site_p.V122_splice	p.V122_splice	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	3	727	+		Lung NSC(277;0.153)	122					D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Splice_Site	SNP	ENST00000370550.5	37	c.363_splice	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278785	0.23307	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.83	4.92	0.64577	.	0.117117	0.64402	N	0.000020	T	0.37705	0.1013	N	0.13235	0.315	0.58432	D	0.999998	B;B	0.20550	0.008;0.046	B;B	0.13407	0.006;0.009	T	0.32561	-0.9902	9	.	.	.	-13.3464	11.2801	0.49188	0.139:0.0:0.861:0.0	.	122;96	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	M	122;122;96;96	ENSP00000359582:V122M;ENSP00000359581:V122M;ENSP00000359579:V96M;ENSP00000349268:V96M	.	V	+	1	0	HS2ST1	87322465	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	4.112000	0.57845	1.483000	0.48342	-0.133000	0.14855	GTG		0.303	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262	Missense_Mutation	5	65	0	0	0	1	0	5	65				
MANEA	79694	broad.mit.edu	37	6	96054257	96054257	+	Silent	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:96054257A>G	ENST00000358812.4	+	5	1499	c.1365A>G	c.(1363-1365)ttA>ttG	p.L455L		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	455	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CTTATGCATTAGATCGCCAGC	0.358																																						ENST00000358812.4																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1363-1365)ttA>ttG		mannosidase, endo-alpha							47.0	48.0	47.0					6																	96054257		2203	4299	6502	SO:0001819	synonymous_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054257A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1365A>G	6.37:g.96054257A>G							p.L455L	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1499	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	455			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	ENST00000358812.4	37	c.1365A>G	CCDS5032.1																																																																																				0.358	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		15	31	0	0	0	1	0	15	31				
NXF1	10482	broad.mit.edu	37	11	62568850	62568850	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62568850C>T	ENST00000532297.1	-	9	1378	c.749G>A	c.(748-750)aGa>aAa	p.R250K	NXF1_ENST00000294172.2_Missense_Mutation_p.R250K|NXF1_ENST00000439713.2_Missense_Mutation_p.R250K|NXF1_ENST00000531131.1_Missense_Mutation_p.R113K|NXF1_ENST00000531709.2_Missense_Mutation_p.R250K			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	250					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATACAGCTTCTGCGATTCAG	0.502																																						ENST00000531709.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(748-750)aGa>aAa		nuclear RNA export factor 1							87.0	74.0	78.0					11																	62568850		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62568850C>T	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.749G>A	11.37:g.62568850C>T	ENSP00000436679:p.Arg250Lys					NXF1_ENST00000294172.2_Missense_Mutation_p.R250K|NXF1_ENST00000439713.2_Missense_Mutation_p.R250K|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000532297.1_Missense_Mutation_p.R250K	p.R250K	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN			8	862	-			250			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.749G>A	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565259	0.45694	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.27	2.4	0.29515	.	0.202468	0.50627	N	0.000102	T	0.36744	0.0978	L	0.49256	1.55	0.37827	D	0.92858	B;B;B;B	0.10296	0.0;0.003;0.001;0.0	B;B;B;B	0.11329	0.0;0.006;0.001;0.0	T	0.24368	-1.0162	10	0.05436	T	0.98	-5.9741	6.4857	0.22087	0.0:0.6345:0.0:0.3655	.	113;293;263;250	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	K	250;250;293;250	ENSP00000294172:R250K;ENSP00000436679:R250K;ENSP00000435742:R293K;ENSP00000408864:R250K	ENSP00000294172:R250K	R	-	2	0	NXF1	62325426	0.996000	0.38824	0.936000	0.37596	0.980000	0.70556	2.257000	0.43240	0.622000	0.30249	0.655000	0.94253	AGA		0.502	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		11	40	0	0	0	1	0	11	40				
SUSD5	26032	broad.mit.edu	37	3	33195087	33195087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:33195087G>A	ENST00000309558.3	-	5	1454	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	346					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGCCCCGAGGGACCATCAGT	0.527																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1036-1038)cCc>cTc		sushi domain containing 5							71.0	74.0	73.0					3																	33195087		2073	4205	6278	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195087G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1037C>T	3.37:g.33195087G>A	ENSP00000308727:p.Pro346Leu						p.P346L	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			5	1454	-			346						Missense_Mutation	SNP	ENST00000309558.3	37	c.1037C>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182105	0.38511	.	.	ENSG00000173705	ENST00000309558	T	0.28895	1.59	5.84	3.07	0.35406	.	0.200827	0.42964	N	0.000637	T	0.28234	0.0697	M	0.62723	1.935	0.52501	D	0.999955	B	0.25390	0.125	B	0.22753	0.041	T	0.07751	-1.0756	10	0.72032	D	0.01	-5.8709	6.6794	0.23111	0.1452:0.0:0.7029:0.1519	.	346	O60279	SUSD5_HUMAN	L	346	ENSP00000308727:P346L	ENSP00000308727:P346L	P	-	2	0	SUSD5	33170091	1.000000	0.71417	0.183000	0.23137	0.011000	0.07611	1.606000	0.36826	0.367000	0.24454	0.650000	0.86243	CCC		0.527	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		3	49	0	0	0	1	0	3	49				
COL4A6	1288	broad.mit.edu	37	X	107414616	107414616	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:107414616C>T	ENST00000372216.4	-	33	3381		c.e33+1		COL4A6_ENST00000334504.7_Splice_Site|COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000394872.2_Splice_Site|COL4A6_ENST00000538570.1_Splice_Site	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGCAACCTTACCTTTAAAACC	0.443									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.e33+1		collagen, type IV, alpha 6							97.0	92.0	94.0					X																	107414616		2203	4300	6503	SO:0001630	splice_region_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107414616C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3280+1G>A	X.37:g.107414616C>T						COL4A6_ENST00000372216.4_Splice_Site|COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000334504.7_Splice_Site|COL4A6_ENST00000538570.1_Splice_Site				Q14031	CO4A6_HUMAN			33	3512	-								Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Splice_Site	SNP	ENST00000372216.4	37		CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214526	0.39102	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.516	0.84300	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A6	107301272	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	4.993000	0.63895	2.384000	0.81235	0.513000	0.50165	.		0.443	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Intron	32	29	0	0	0	1	0	32	29				
ARPIN	348110	broad.mit.edu	37	15	90447216	90447216	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:90447216C>T	ENST00000357484.5	-	4	422		c.e4-1		C15orf38_ENST00000460685.1_Splice_Site|C15orf38-AP3S2_ENST00000560224.1_5'Flank|C15orf38-AP3S2_ENST00000398333.3_Splice_Site	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN							directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GCTTCCACCTCTGCAGGCACA	0.627																																						ENST00000357484.5																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.e4-1		chromosome 15 open reading frame 38							38.0	40.0	39.0					15																	90447216		2094	4207	6301	SO:0001630	splice_region_variant	348110							g.chr15:90447216C>T																												ENST00000357484.5:c.302-1G>A	15.37:g.90447216C>T						C15orf38_ENST00000460685.1_Splice_Site|C15orf38-AP3S2_ENST00000398333.3_Splice_Site		NM_182616.2	NP_872422.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		4	422	-	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)							E2QRD5	Splice_Site	SNP	ENST00000357484.5	37		CCDS42080.1	.	.	.	.	.	.	.	.	.	.	C	8.863	0.947309	0.18356	.	.	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9528	0.64129	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C15orf38-AP3S2;C15orf38	88248220	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	6.384000	0.73177	2.231000	0.72958	0.478000	0.44815	.		0.627	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1		Intron	14	27	0	0	0	1	0	14	27				
SNAI3	333929	broad.mit.edu	37	16	88748058	88748058	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:88748058C>T	ENST00000332281.5	-	2	227	c.141G>A	c.(139-141)gaG>gaA	p.E47E	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	47					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CAGAAGGGGCCTCCTTGTCTC	0.652																																					Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(139-141)gaG>gaA		snail family zinc finger 3							13.0	17.0	16.0					16																	88748058		2176	4257	6433	SO:0001819	synonymous_variant	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88748058C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.141G>A	16.37:g.88748058C>T						SNAI3-AS1_ENST00000563261.1_RNA	p.E47E	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	227	-			47					Q86SU5	Silent	SNP	ENST00000332281.5	37	c.141G>A	CCDS32505.1																																																																																				0.652	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			6	22	0	0	0	1	0	6	22				
ERICH3	127254	broad.mit.edu	37	1	75037873	75037873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:75037873C>T	ENST00000326665.5	-	14	3739	c.3521G>A	c.(3520-3522)aGg>aAg	p.R1174K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1174	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTTCTTTCCTCAGAGCTGT	0.493																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3520-3522)aGg>aAg		chromosome 1 open reading frame 173							115.0	115.0	115.0					1																	75037873		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037873C>T																												ENST00000326665.5:c.3521G>A	1.37:g.75037873C>T	ENSP00000322609:p.Arg1174Lys					C1orf173_ENST00000433746.2_5'UTR	p.R1174K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3739	-			1174			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3521G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.817004	0.32145	.	.	ENSG00000178965	ENST00000326665	T	0.12984	2.63	4.63	0.455	0.16649	.	.	.	.	.	T	0.01627	0.0052	N	0.22421	0.69	0.09310	N	1	B	0.17852	0.024	B	0.16722	0.016	T	0.47837	-0.9086	9	0.05525	T	0.97	-5.3156	5.2157	0.15342	0.0:0.5307:0.1391:0.3303	.	1174	Q5RHP9	CA173_HUMAN	K	1174	ENSP00000322609:R1174K	ENSP00000322609:R1174K	R	-	2	0	C1orf173	74810461	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.198000	0.17217	0.064000	0.16427	-0.264000	0.10439	AGG		0.493	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			14	122	0	0	0	1	0	14	122				
BMPR1A	657	broad.mit.edu	37	10	88678956	88678956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:88678956C>T	ENST00000372037.3	+	10	1433	c.896C>T	c.(895-897)aCa>aTa	p.T299I		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ATTAAAGGTACAGGTTCCTGG	0.423			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(895-897)aCa>aTa		bone morphogenetic protein receptor, type IA							117.0	116.0	116.0					10																	88678956		2203	4300	6503	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88678956C>T	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.896C>T	10.37:g.88678956C>T	ENSP00000361107:p.Thr299Ile						p.T299I	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			10	1433	+			299			Protein kinase.		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.896C>T	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118187	0.77323	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.93659	-3.26	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048097	0.85682	D	0.000000	D	0.94971	0.8373	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95590	0.8654	10	0.66056	D	0.02	.	18.5584	0.91092	0.0:1.0:0.0:0.0	.	299	P36894	BMR1A_HUMAN	I	299	ENSP00000361107:T299I	ENSP00000224764:T299I	T	+	2	0	BMPR1A	88668936	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.880000	0.69698	2.447000	0.82792	0.467000	0.42956	ACA		0.423	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		6	139	0	0	0	1	0	6	139				
MET	4233	broad.mit.edu	37	7	116397728	116397728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116397728C>T	ENST00000318493.6	+	8	2189	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	MET_ENST00000397752.3_Missense_Mutation_p.P668S|MET_ENST00000436117.2_Missense_Mutation_p.P668S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAATACGGTCCTATGGCTGG	0.333			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2002-2004)Cct>Tct		met proto-oncogene							73.0	72.0	72.0					7																	116397728		1841	4088	5929	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116397728C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2002C>T	7.37:g.116397728C>T	ENSP00000317272:p.Pro668Ser					MET_ENST00000318493.6_Missense_Mutation_p.P668S|MET_ENST00000436117.2_Missense_Mutation_p.P668S	p.P668S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		8	2202	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	668			IPT/TIG 2.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2002C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921816	0.52653	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.76060	-0.99;-0.99;-0.99	5.45	5.45	0.79879	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	L	0.58669	1.825	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0;1.0	D	0.85761	0.1349	10	0.87932	D	0	.	19.6495	0.95795	0.0:1.0:0.0:0.0	.	668;668;668;668;640;668;668	B5A929;E7EQ94;B5A930;B5A934;B5A936;P08581-2;P08581	.;.;.;.;.;.;MET_HUMAN	S	668	ENSP00000380860:P668S;ENSP00000317272:P668S;ENSP00000410980:P668S	ENSP00000317272:P668S	P	+	1	0	MET	116184964	1.000000	0.71417	0.911000	0.35937	0.019000	0.09904	5.414000	0.66405	2.717000	0.92951	0.585000	0.79938	CCT		0.333	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			23	353	0	0	0	1	0	23	353				
ZNF451	26036	broad.mit.edu	37	6	56997840	56997840	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:56997840G>A	ENST00000370706.4	+	6	669	c.425G>A	c.(424-426)gGa>gAa	p.G142E	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Splice_Site_p.G142E|ZNF451_ENST00000491832.2_Splice_Site_p.G142E|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATGATGCAGGACTCAAAACA	0.363																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.e6-1		zinc finger protein 451							81.0	77.0	79.0					6																	56997840		2203	4300	6503	SO:0001630	splice_region_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56997840G>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.425-1G>A	6.37:g.56997840G>A						ZNF451_ENST00000357489.3_Splice_Site_p.G142_splice|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Splice_Site_p.G142_splice|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	p.G142_splice	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		6	669	+	Lung NSC(77;0.145)		142					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Splice_Site	SNP	ENST00000370706.4	37	c.424_splice	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646804	0.87958	.	.	ENSG00000112200	ENST00000515290;ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	5.32	5.32	0.75619	.	0.071765	0.56097	D	0.000030	T	0.20861	0.0502	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.995;0.999	T	0.00449	-1.1732	9	.	.	.	.	18.9672	0.92701	0.0:0.0:1.0:0.0	.	142;142;142;142	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	E	3;114;142;142;142	ENSP00000424723:G3E;ENSP00000427558:G114E;ENSP00000359740:G142E;ENSP00000350083:G142E;ENSP00000421645:G142E	.	G	+	2	0	ZNF451	57105799	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.292000	0.72725	2.637000	0.89404	0.650000	0.86243	GGA		0.363	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	Missense_Mutation	8	39	0	0	0	1	0	8	39				
TMEM135	65084	broad.mit.edu	37	11	87030379	87030379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:87030379C>T	ENST00000305494.5	+	14	1243	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	TMEM135_ENST00000532959.1_Missense_Mutation_p.P273S|TMEM135_ENST00000340353.7_Missense_Mutation_p.P380S|TMEM135_ENST00000535167.1_Missense_Mutation_p.P263S	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	402					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GACTTTGAGACCATCTTACTG	0.323																																						ENST00000340353.7																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1138-1140)Cca>Tca		transmembrane protein 135							85.0	86.0	86.0					11																	87030379		2201	4298	6499	SO:0001583	missense	65084					integral to membrane		g.chr11:87030379C>T	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.1204C>T	11.37:g.87030379C>T	ENSP00000306344:p.Pro402Ser					TMEM135_ENST00000535167.1_Missense_Mutation_p.P263S|TMEM135_ENST00000532959.1_Missense_Mutation_p.P273S|TMEM135_ENST00000305494.5_Missense_Mutation_p.P402S	p.P380S	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN			13	1340	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	402					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.1138C>T	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446156	0.84101	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.50001	0.76;0.82;0.84;0.82	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.988;0.989	T	0.60722	-0.7207	9	.	.	.	-21.5467	19.1488	0.93479	0.0:1.0:0.0:0.0	.	380;402	Q86UB9-2;Q86UB9	.;TM135_HUMAN	S	380;239;273;402;263	ENSP00000345513:P380S;ENSP00000436179:P273S;ENSP00000306344:P402S;ENSP00000439525:P263S	.	P	+	1	0	TMEM135	86708027	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.223000	0.78033	2.772000	0.95346	0.650000	0.86243	CCA		0.323	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		28	52	0	0	0	1	0	28	52				
RNF38	152006	broad.mit.edu	37	9	36352761	36352761	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:36352761G>A	ENST00000259605.6	-	8	1263	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S	RNF38_ENST00000350199.4_Missense_Mutation_p.P303S|RNF38_ENST00000377885.2_Missense_Mutation_p.P303S|RNF38_ENST00000377877.4_Missense_Mutation_p.P310S|RNF38_ENST00000357058.3_Missense_Mutation_p.P303S|RNF38_ENST00000353739.4_Missense_Mutation_p.P336S	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	386	Pro-rich.				male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			AGTAAGCTGGGATGATAAGGG	0.418																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(907-909)Ccc>Tcc		ring finger protein 38							131.0	130.0	130.0					9																	36352761		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36352761G>A		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1156C>T	9.37:g.36352761G>A	ENSP00000259605:p.Pro386Ser					RNF38_ENST00000350199.4_Missense_Mutation_p.P303S|RNF38_ENST00000259605.6_Missense_Mutation_p.P386S|RNF38_ENST00000377877.4_Missense_Mutation_p.P310S|RNF38_ENST00000377885.2_Missense_Mutation_p.P303S|RNF38_ENST00000353739.4_Missense_Mutation_p.P336S	p.P303S	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		8	1513	-			386			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.907C>T	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086814	0.94100	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.66939	2.045	0.80722	D	1	D;D;D	0.69078	0.994;0.996;0.997	P;D;D	0.64687	0.874;0.921;0.928	T	0.59423	-0.7457	10	0.46703	T	0.11	-5.6712	17.8962	0.88888	0.0:0.0:1.0:0.0	.	310;336;386	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	S	386;336;303;303;303;203;310;310	ENSP00000259605:P386S;ENSP00000335239:P336S;ENSP00000367117:P303S;ENSP00000349566:P303S;ENSP00000343947:P303S;ENSP00000367109:P310S	ENSP00000259605:P386S	P	-	1	0	RNF38	36342761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	CCC		0.418	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		9	24	0	0	0	1	0	9	24				
PGM5	5239	broad.mit.edu	37	9	71098945	71098945	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:71098945G>A	ENST00000396396.1	+	9	1689	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	487					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTGTGGATGGCACTGTGACC	0.502																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1459-1461)gGc>gAc		phosphoglucomutase 5							155.0	132.0	140.0					9																	71098945		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098945G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1460G>A	9.37:g.71098945G>A	ENSP00000379678:p.Gly487Asp						p.G487D	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			9	1689	+			487					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1460G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910570	0.92107	.	.	ENSG00000154330	ENST00000396396	T	0.47528	0.84	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	M	0.85542	2.76	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	T	0.75193	-0.3404	10	0.72032	D	0.01	.	18.7313	0.91736	0.0:0.0:1.0:0.0	.	487	Q15124	PGM5_HUMAN	D	487	ENSP00000379678:G487D	ENSP00000379678:G487D	G	+	2	0	PGM5	70288765	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.647000	0.98478	2.716000	0.92895	0.655000	0.94253	GGC		0.502	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		27	42	0	0	0	1	0	27	42				
FPGS	2356	broad.mit.edu	37	9	130569929	130569929	+	Missense_Mutation	SNP	G	G	A	rs138057415		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:130569929G>A	ENST00000373247.2	+	8	756	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	FPGS_ENST00000393706.2_Missense_Mutation_p.V210M|FPGS_ENST00000373225.3_Missense_Mutation_p.V186M|FPGS_ENST00000373245.1_Missense_Mutation_p.V236M|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	236					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GGGGGATACGGTGGAGAAGAT	0.597																																						ENST00000373245.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(706-708)Gtg>Atg		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						44.0	44.0	44.0					9																	130569929		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130569929G>A		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.706G>A	9.37:g.130569929G>A	ENSP00000362344:p.Val236Met					FPGS_ENST00000373225.3_Missense_Mutation_p.V186M|FPGS_ENST00000393706.2_Missense_Mutation_p.V210M|FPGS_ENST00000373247.2_Missense_Mutation_p.V236M|FPGS_ENST00000460181.1_3'UTR	p.V236M			Q05932	FOLC_HUMAN			8	756	+			236					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.706G>A	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128112	0.37533	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.34275	2.82;1.37;2.84;1.37;2.42	5.31	-6.66	0.01789	Mur ligase, central (2);	0.473068	0.23413	N	0.048449	T	0.23766	0.0575	L	0.56124	1.755	0.24548	N	0.994039	B;B	0.19583	0.016;0.037	B;B	0.22753	0.025;0.041	T	0.10405	-1.0631	10	0.46703	T	0.11	-20.5248	5.4757	0.16694	0.6092:0.0962:0.1985:0.0961	.	210;236	Q05932-4;Q05932	.;FOLC_HUMAN	M	236;236;210;236;186;186;160	ENSP00000362344:V236M;ENSP00000362342:V236M;ENSP00000377309:V210M;ENSP00000362325:V236M;ENSP00000362322:V186M	ENSP00000362322:V186M	V	+	1	0	FPGS	129609750	0.249000	0.23941	0.128000	0.21923	0.970000	0.65996	0.903000	0.28475	-1.131000	0.02910	-0.521000	0.04368	GTG		0.597	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			4	9	0	0	0	1	0	4	9				
MANF	7873	broad.mit.edu	37	3	51423750	51423750	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51423750G>A	ENST00000528157.1	+	2	502	c.206G>A	c.(205-207)gGc>gAc	p.G69D	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	69					response to unfolded protein (GO:0006986)|vasoconstriction of artery involved in ischemic response to lowering of systemic arterial blood pressure (GO:0002014)	extracellular space (GO:0005615)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						GAAGCAAGAGGCAAAGAGAAT	0.488																																						ENST00000528157.1																			0				lung(1)|ovary(1)	2						c.(205-207)gGc>gAc		mesencephalic astrocyte-derived neurotrophic factor							84.0	82.0	82.0					3																	51423750		1916	4130	6046	SO:0001583	missense	7873				response to unfolded protein	extracellular region	growth factor activity	g.chr3:51423750G>A	M83751	CCDS46836.1, CCDS46836.2	3p21.1	2010-12-09	2009-06-04	2009-06-04	ENSG00000145050	ENSG00000145050			15461	protein-coding gene	gene with protein product		601916	"""arginine-rich, mutated in early stage tumors"""	ARMET		12794311	Standard	NM_006010		Approved	ARP	uc003dbc.3	P55145	OTTHUMG00000156897	ENST00000528157.1:c.206G>A	3.37:g.51423750G>A	ENSP00000432799:p.Gly69Asp					MANF_ENST00000470900.1_3'UTR	p.G69D	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN			2	502	+			69					Q14CX4|Q86U67|Q96IS4	Missense_Mutation	SNP	ENST00000528157.1	37	c.206G>A	CCDS46836.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759131	0.89843	.	.	ENSG00000145050	ENST00000528157;ENST00000273628	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81482	-0.0913	9	0.51188	T	0.08	.	18.3621	0.90377	0.0:0.0:1.0:0.0	.	69	P55145	MANF_HUMAN	D	69;72	.	ENSP00000273628:G72D	G	+	2	0	MANF	51398790	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.992000	0.93519	2.343000	0.79666	0.563000	0.77884	GGC		0.488	MANF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346490.3	NM_006010		8	23	0	0	0	1	0	8	23				
CDK5RAP2	55755	broad.mit.edu	37	9	123239666	123239666	+	Silent	SNP	G	G	A	rs376139111		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:123239666G>A	ENST00000349780.4	-	15	1868	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	CDK5RAP2_ENST00000359309.3_Silent_p.I563I|CDK5RAP2_ENST00000360190.4_Silent_p.I563I|CDK5RAP2_ENST00000360822.3_Silent_p.I563I	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	563					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GATGGGTATAGATGTCCTGCT	0.423											OREG0019439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1687-1689)atC>atT		CDK5 regulatory subunit associated protein 2							258.0	209.0	226.0					9																	123239666		2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123239666G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1689C>T	9.37:g.123239666G>A			OREG0019439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1525	CDK5RAP2_ENST00000360190.4_Silent_p.I563I|CDK5RAP2_ENST00000359309.3_Silent_p.I563I|CDK5RAP2_ENST00000360822.3_Silent_p.I563I	p.I563I	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			15	1868	-			563					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.1689C>T	CCDS6823.1																																																																																				0.423	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		5	127	0	0	0	1	0	5	127				
SLC27A2	11001	broad.mit.edu	37	15	50475084	50475084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:50475084G>A	ENST00000267842.5	+	1	692	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	SLC27A2_ENST00000380902.4_Missense_Mutation_p.V154M	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	154					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CGGGGCGAAGGTGCTGCTGGT	0.657																																						ENST00000267842.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(460-462)Gtg>Atg		solute carrier family 27 (fatty acid transporter), member 2							79.0	87.0	84.0					15																	50475084		2195	4293	6488	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50475084G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.460G>A	15.37:g.50475084G>A	ENSP00000267842:p.Val154Met					SLC27A2_ENST00000380902.4_Missense_Mutation_p.V154M	p.V154M	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	1	692	+		all_lung(180;0.00177)	154					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.460G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251308	0.59212	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.49432	0.78;0.78	4.42	4.42	0.53409	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000002	T	0.62183	0.2407	M	0.70787	2.145	0.80722	D	1	P;D	0.76494	0.815;0.999	P;D	0.79108	0.542;0.992	T	0.60337	-0.7283	10	0.35671	T	0.21	.	8.4702	0.32980	0.1047:0.0:0.8953:0.0	.	154;154	Q6PF09;O14975	.;S27A2_HUMAN	M	154	ENSP00000370289:V154M;ENSP00000267842:V154M	ENSP00000267842:V154M	V	+	1	0	SLC27A2	48262376	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.013000	0.64023	2.446000	0.82766	0.561000	0.74099	GTG		0.657	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		9	198	0	0	0	1	0	9	198				
CDK7	1022	broad.mit.edu	37	5	68555706	68555706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:68555706G>A	ENST00000256443.3	+	7	573	c.470G>A	c.(469-471)gGc>gAc	p.G157D	CDK7_ENST00000513629.1_Intron|CDK7_ENST00000514676.1_Missense_Mutation_p.G120D|CDK7_ENST00000502604.1_Missense_Mutation_p.G64D	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GCAGATTTTGGCCTGGCCAAA	0.393								Nucleotide excision repair (NER)																														ENST00000502604.1																			0				endometrium(1)|lung(2)	3						c.(190-192)gGc>gAc	Nucleotide excision repair (NER)	cyclin-dependent kinase 7							69.0	72.0	71.0					5																	68555706		2203	4300	6503	SO:0001583	missense	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68555706G>A		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.470G>A	5.37:g.68555706G>A	ENSP00000256443:p.Gly157Asp					CDK7_ENST00000514676.1_Missense_Mutation_p.G120D|CDK7_ENST00000513629.1_Intron|CDK7_ENST00000256443.3_Missense_Mutation_p.G157D	p.G64D			P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	6	681	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	157			Protein kinase.		Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	c.191G>A	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284843	0.95517	.	.	ENSG00000134058	ENST00000506563;ENST00000256443;ENST00000514676;ENST00000502604	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.52	5.52	0.82312	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	0.96207	0.8763	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97343	0.9958	10	0.87932	D	0	.	18.5748	0.91150	0.0:0.0:1.0:0.0	.	120;157	D6RAD4;P50613	.;CDK7_HUMAN	D	64;157;120;64	ENSP00000425043:G64D;ENSP00000256443:G157D;ENSP00000422737:G120D;ENSP00000422121:G64D	ENSP00000256443:G157D	G	+	2	0	CDK7	68591462	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.473000	0.97714	2.764000	0.94973	0.491000	0.48974	GGC		0.393	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		6	75	0	0	0	1	0	6	75				
SRGAP1	57522	broad.mit.edu	37	12	64436647	64436647	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:64436647G>A	ENST00000355086.3	+	5	1091	c.567G>A	c.(565-567)gaG>gaA	p.E189E	SRGAP1_ENST00000357825.3_Silent_p.E189E|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.E149E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	189	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAAAACAAGAGGAAAAGCAAA	0.418																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(565-567)gaG>gaA		SLIT-ROBO Rho GTPase activating protein 1							94.0	88.0	91.0					12																	64436647		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64436647G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.567G>A	12.37:g.64436647G>A						SRGAP1_ENST00000543397.1_Silent_p.E149E|SRGAP1_ENST00000357825.3_Silent_p.E189E|RP11-196H14.2_ENST00000535594.1_RNA	p.E189E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	5	1091	+			189					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.567G>A	CCDS8967.1																																																																																				0.418	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			14	29	0	0	0	1	0	14	29				
XPO4	64328	broad.mit.edu	37	13	21442775	21442775	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:21442775C>T	ENST00000255305.6	-	2	206	c.135G>A	c.(133-135)agG>agA	p.R45R	XPO4_ENST00000400602.2_Silent_p.R45R|XPO4_ENST00000490513.1_5'UTR			Q9C0E2	XPO4_HUMAN	exportin 4	45					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATTTTGATTTCCTAAATGATA	0.353																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(133-135)agG>agA		exportin 4							171.0	159.0	162.0					13																	21442775		1876	4113	5989	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21442775C>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.135G>A	13.37:g.21442775C>T						XPO4_ENST00000255305.6_Silent_p.R45R|XPO4_ENST00000490513.1_5'UTR	p.R45R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	2	170	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	45					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.135G>A	CCDS41872.1																																																																																				0.353	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		7	78	0	0	0	1	0	7	78				
BAIAP3	8938	broad.mit.edu	37	16	1396010	1396010	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1396010C>T	ENST00000324385.5	+	24	2495	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	BAIAP3_ENST00000426824.3_Silent_p.F744F|BAIAP3_ENST00000421665.2_Silent_p.F708F|BAIAP3_ENST00000562208.1_Silent_p.F721F|BAIAP3_ENST00000397488.2_Silent_p.F761F|BAIAP3_ENST00000568887.1_Silent_p.F716F|BAIAP3_ENST00000397489.1_Silent_p.F761F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	779	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCACCCTCTTCTATACGGAGC	0.677																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2335-2337)ttC>ttT		BAI1-associated protein 3							30.0	30.0	30.0					16																	1396010		2196	4298	6494	SO:0001819	synonymous_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1396010C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2337C>T	16.37:g.1396010C>T						BAIAP3_ENST00000397488.2_Silent_p.F761F|BAIAP3_ENST00000421665.2_Silent_p.F708F|BAIAP3_ENST00000562208.1_Silent_p.F721F|BAIAP3_ENST00000397489.1_Silent_p.F761F|BAIAP3_ENST00000426824.3_Silent_p.F744F|BAIAP3_ENST00000568887.1_Silent_p.F716F	p.F779F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			24	2495	+		Hepatocellular(780;0.0893)	779			MHD1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	c.2337C>T	CCDS10434.1																																																																																				0.677	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			7	6	0	0	0	1	0	7	6				
LRRC32	2615	broad.mit.edu	37	11	76370848	76370848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:76370848C>T	ENST00000407242.2	-	3	2031	c.1789G>A	c.(1789-1791)Gac>Aac	p.D597N	LRRC32_ENST00000260061.5_Missense_Mutation_p.D597N|LRRC32_ENST00000404995.1_Missense_Mutation_p.D597N|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	597	LRRCT.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGATCAGGTCCTGGGTGGCG	0.642																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1789-1791)Gac>Aac		leucine rich repeat containing 32							79.0	70.0	73.0					11																	76370848		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76370848C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1789G>A	11.37:g.76370848C>T	ENSP00000384126:p.Asp597Asn					LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.D597N|LRRC32_ENST00000404995.1_Missense_Mutation_p.D597N|AP001189.4_ENST00000447519.1_RNA	p.D597N	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	2031	-			597			LRRCT.		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1789G>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	8.818	0.936849	0.18206	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.37235	1.21;1.21;1.21	4.59	3.65	0.41850	.	0.364348	0.29172	N	0.012940	T	0.12689	0.0308	N	0.02011	-0.69	0.28877	N	0.894631	B	0.12630	0.006	B	0.06405	0.002	T	0.15263	-1.0443	10	0.15952	T	0.53	.	9.2329	0.37448	0.0:0.7216:0.1898:0.0886	.	597	Q14392	LRC32_HUMAN	N	597	ENSP00000260061:D597N;ENSP00000384126:D597N;ENSP00000385766:D597N	ENSP00000260061:D597N	D	-	1	0	LRRC32	76048496	0.906000	0.30813	1.000000	0.80357	0.981000	0.71138	1.769000	0.38522	2.383000	0.81215	0.491000	0.48974	GAC		0.642	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		5	52	0	0	0	1	0	5	52				
FBXL5	26234	broad.mit.edu	37	4	15628506	15628506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:15628506C>T	ENST00000341285.3	-	8	1238	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T	FBXL5_ENST00000412094.2_Missense_Mutation_p.A355T|FBXL5_ENST00000382358.4_Missense_Mutation_p.A246T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	372					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTGTCAAATGCAGAATCTGAA	0.294																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1114-1116)Gca>Aca		F-box and leucine-rich repeat protein 5							44.0	42.0	43.0					4																	15628506		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15628506C>T	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1114G>A	4.37:g.15628506C>T	ENSP00000344866:p.Ala372Thr					FBXL5_ENST00000412094.2_Missense_Mutation_p.A355T|FBXL5_ENST00000382358.4_Missense_Mutation_p.A246T	p.A372T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			8	1238	-			372					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1114G>A	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.463257|5.463257	0.96257|0.96257	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.17213|.	2.29;2.29;2.29|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.045054|.	0.85682|.	D|.	0.000000|.	T|T	0.76047|0.76047	0.3933|0.3933	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.971;0.997|.	P;D|.	0.77004|.	0.725;0.989|.	T|T	0.72450|0.72450	-0.4290|-0.4290	10|5	0.87932|.	D|.	0|.	-16.3047|-16.3047	20.0624|20.0624	0.97681|0.97681	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	355;372|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	T|Y	372;355;246|292	ENSP00000344866:A372T;ENSP00000408679:A355T;ENSP00000371795:A246T|.	ENSP00000344866:A372T|.	A|C	-|-	1|2	0|0	FBXL5|FBXL5	15237604|15237604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.294000|7.294000	0.78760|0.78760	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	GCA|TGC		0.294	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			4	54	0	0	0	1	0	4	54				
MOB3B	79817	broad.mit.edu	37	9	27455191	27455191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:27455191G>A	ENST00000262244.5	-	2	782	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	120							metal ion binding (GO:0046872)										TCCATAAGAAGGTTCATGTAC	0.468																																						ENST00000262244.5																			0											c.(358-360)Ctt>Ttt		MOB kinase activator 3B							103.0	96.0	98.0					9																	27455191		2203	4300	6503	SO:0001583	missense	79817						metal ion binding|protein binding	g.chr9:27455191G>A	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.358C>T	9.37:g.27455191G>A	ENSP00000262244:p.Leu120Phe						p.L120F	NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN			2	782	-			120					Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	c.358C>T	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740262	0.69304	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.83	4.94	0.65067	.	0.000000	0.64402	D	0.000002	T	0.65749	0.2721	L	0.55743	1.74	0.58432	D	0.999996	D	0.53151	0.958	P	0.58454	0.839	T	0.62129	-0.6919	9	0.22706	T	0.39	-15.0646	13.8734	0.63634	0.0739:0.0:0.9261:0.0	.	120	Q86TA1	MOB3B_HUMAN	F	120	.	ENSP00000262244:L120F	L	-	1	0	MOBKL2B	27445191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.029000	0.88807	1.474000	0.48178	0.563000	0.77884	CTT		0.468	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		30	17	0	0	0	1	0	30	17				
TLR9	54106	broad.mit.edu	37	3	52257917	52257917	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52257917G>A	ENST00000360658.2	-	2	1048	c.415C>T	c.(415-417)Cct>Tct	p.P139S	TLR9_ENST00000494383.1_Missense_Mutation_p.A292V|TLR9_ENST00000597542.1_Missense_Mutation_p.P163S	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	139					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GGCAGCGCAGGCACAGTCATG	0.582																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(487-489)Cct>Tct		toll-like receptor 9	Chloroquine(DB00608)						238.0	224.0	229.0					3																	52257917		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257917G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.415C>T	3.37:g.52257917G>A	ENSP00000353874:p.Pro139Ser					TLR9_ENST00000494383.1_Missense_Mutation_p.A292V|TLR9_ENST00000360658.2_Missense_Mutation_p.P139S	p.P163S			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1444	-			139					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.487C>T	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.599141|3.599141	0.66332|0.66332	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.27720	.|1.65	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.36234	.|N	.|0.002720	T|T	0.60586|0.60586	0.2280|0.2280	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.65434|0.65434	-0.6169|-0.6169	5|10	.|0.87932	.|D	.|0	.|.	17.0174|17.0174	0.86423|0.86423	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236;139	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	V|S	292|139	.|ENSP00000353874:P139S	.|ENSP00000353874:P139S	A|P	-|-	2|1	0|0	RP11-330H6.5|TLR9	52232957|52232957	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.092000|0.092000	0.18411|0.18411	6.303000|6.303000	0.72794|0.72794	2.623000|2.623000	0.88846|0.88846	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.582	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			8	148	0	0	0	1	0	8	148				
C22orf31	25770	broad.mit.edu	37	22	29456540	29456540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:29456540C>T	ENST00000216071.4	-	2	346	c.295G>A	c.(295-297)Gga>Aga	p.G99R		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	99										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GAGAGTTTTCCTTCTCCAAAC	0.478																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(295-297)Gga>Aga		chromosome 22 open reading frame 31							107.0	99.0	102.0					22																	29456540		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29456540C>T	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.295G>A	22.37:g.29456540C>T	ENSP00000216071:p.Gly99Arg						p.G99R	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			2	346	-			99					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.295G>A	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883380	0.33255	.	.	ENSG00000100249	ENST00000216071	T	0.34275	1.37	4.81	2.72	0.32119	.	0.514617	0.17906	N	0.158029	T	0.18341	0.0440	N	0.08118	0	0.19575	N	0.999963	B	0.16603	0.018	B	0.18263	0.021	T	0.17440	-1.0369	10	0.59425	D	0.04	-0.4311	7.3678	0.26783	0.0:0.8011:0.0:0.1989	.	99	O95567	CV031_HUMAN	R	99	ENSP00000216071:G99R	ENSP00000216071:G99R	G	-	1	0	C22orf31	27786540	0.982000	0.34865	0.979000	0.43373	0.736000	0.42039	0.716000	0.25836	0.629000	0.30376	-0.224000	0.12420	GGA		0.478	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		34	70	0	0	0	1	0	34	70				
LAG3	3902	broad.mit.edu	37	12	6884725	6884725	+	Intron	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:6884725G>A	ENST00000203629.2	+	5	1390				LAG3_ENST00000441671.2_Silent_p.Q356Q	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3						cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTCAGCCTCAGGTGGGAAAGG	0.587																																						ENST00000441671.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1066-1068)caG>caA		lymphocyte-activation gene 3							42.0	38.0	39.0					12																	6884725		2203	4300	6503	SO:0001627	intron_variant	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6884725G>A		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1057+11G>A	12.37:g.6884725G>A						LAG3_ENST00000203629.2_Intron	p.Q356Q			P18627	LAG3_HUMAN			5	1402	+			356			Ig-like C2-type 3.		A8K7T9|Q7Z643	Silent	SNP	ENST00000203629.2	37	c.1068G>A	CCDS8561.1																																																																																				0.587	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			26	39	0	0	0	1	0	26	39				
FAM105A	54491	broad.mit.edu	37	5	14609016	14609016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:14609016G>A	ENST00000274217.3	+	7	907	c.787G>A	c.(787-789)Gtc>Atc	p.V263I		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	263	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GACTAAAAAGGTCATTCCCAG	0.378																																						ENST00000274217.3																			0				large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(787-789)Gtc>Atc		family with sequence similarity 105, member A							105.0	107.0	106.0					5																	14609016		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14609016G>A		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.787G>A	5.37:g.14609016G>A	ENSP00000274217:p.Val263Ile						p.V263I	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			7	907	+	Lung NSC(4;0.00592)		263					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.787G>A	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	G	9.950	1.219986	0.22373	.	.	ENSG00000145569	ENST00000274217	T	0.16597	2.33	4.89	1.17	0.20885	.	1.618830	0.03293	N	0.187946	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26883	-1.0090	10	0.38643	T	0.18	-1.9948	2.5498	0.04746	0.2353:0.1372:0.5029:0.1246	.	263	Q9NUU6	F105A_HUMAN	I	263	ENSP00000274217:V263I	ENSP00000274217:V263I	V	+	1	0	FAM105A	14662016	0.007000	0.16637	0.004000	0.12327	0.830000	0.47004	0.690000	0.25451	0.222000	0.20900	0.585000	0.79938	GTC		0.378	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		5	75	0	0	0	1	0	5	75				
SEMA7A	8482	broad.mit.edu	37	15	74704285	74704285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74704285C>T	ENST00000261918.4	-	11	1911	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	SEMA7A_ENST00000543145.2_Missense_Mutation_p.E441K|SEMA7A_ENST00000542748.1_Missense_Mutation_p.E290K	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	455	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGCTGGATCTCCATGATGTTG	0.632																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1363-1365)Gag>Aag		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							116.0	81.0	93.0					15																	74704285		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74704285C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1363G>A	15.37:g.74704285C>T	ENSP00000261918:p.Glu455Lys					SEMA7A_ENST00000542748.1_Missense_Mutation_p.E290K|SEMA7A_ENST00000543145.2_Missense_Mutation_p.E441K	p.E455K	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			11	1911	-			455			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1363G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455411	0.84209	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.29917	1.55;1.55;1.55	4.5	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.135749	0.48286	D	0.000184	T	0.61640	0.2363	M	0.89163	3.01	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.71101	-0.4690	10	0.87932	D	0	-24.4044	14.9644	0.71179	0.0:1.0:0.0:0.0	.	441;455	F5H1S0;O75326	.;SEM7A_HUMAN	K	455;441;290	ENSP00000261918:E455K;ENSP00000438966:E441K;ENSP00000441493:E290K	ENSP00000261918:E455K	E	-	1	0	SEMA7A	72491338	1.000000	0.71417	0.974000	0.42286	0.579000	0.36224	3.457000	0.53007	2.051000	0.60960	0.491000	0.48974	GAG		0.632	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		21	42	0	0	0	1	0	21	42				
IRX5	10265	broad.mit.edu	37	16	54967424	54967424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:54967424G>A	ENST00000394636.4	+	3	1428	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	IRX5_ENST00000320990.5_Missense_Mutation_p.G363E|IRX5_ENST00000558597.1_Missense_Mutation_p.G298E|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Missense_Mutation_p.G144E			P78411	IRX5_HUMAN	iroquois homeobox 5	364					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCGTGTCCCGGGCCCATAGCC	0.701																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(1090-1092)gGg>gAg		iroquois homeobox 5							10.0	11.0	11.0					16																	54967424		2170	4249	6419	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967424G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1091G>A	16.37:g.54967424G>A	ENSP00000378132:p.Gly364Glu					IRX5_ENST00000558597.1_Missense_Mutation_p.G298E|IRX5_ENST00000320990.5_Missense_Mutation_p.G363E|IRX5_ENST00000560154.1_Missense_Mutation_p.G144E	p.G364E			P78411	IRX5_HUMAN			3	1428	+			364					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.1091G>A	CCDS10751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.714601|2.714601	0.48622|0.48622	.|.	.|.	ENSG00000176842|ENSG00000176842	ENST00000394636;ENST00000320990|ENST00000447390	T;T|.	0.39787|.	1.06;1.06|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	0.324060|0.324060	0.28052|0.28052	N|N	0.016788|0.016788	T|T	0.56761|0.56761	0.2007|0.2007	N|N	0.22421|0.22421	0.69|0.69	0.48571|0.48571	D|D	0.999676|0.999676	P|.	0.44877|.	0.845|.	B|.	0.36244|.	0.22|.	T|T	0.64193|0.64193	-0.6465|-0.6465	10|7	0.32370|0.87932	T|D	0.25|0	-13.4341|-13.4341	16.6515|16.6515	0.85203|0.85203	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	364|.	P78411|.	IRX5_HUMAN|.	E|S	364;363|145	ENSP00000378132:G364E;ENSP00000316250:G363E|.	ENSP00000316250:G363E|ENSP00000411820:G145S	G|G	+|+	2|1	0|0	IRX5|IRX5	53524925|53524925	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.786000|0.786000	0.44442|0.44442	4.685000|4.685000	0.61693|0.61693	2.235000|2.235000	0.73313|0.73313	0.585000|0.585000	0.79938|0.79938	GGG|GGC		0.701	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			3	11	0	0	0	1	0	3	11				
OBSCN	84033	broad.mit.edu	37	1	228509459	228509459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:228509459G>A	ENST00000422127.1	+	55	14961	c.14917G>A	c.(14917-14919)Gtg>Atg	p.V4973M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V4973M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V5930M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V2092M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V2607M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4973	Ig-like 48.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCTGTCAGGTGAGCAACAA	0.612																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(17788-17790)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							55.0	60.0	58.0					1																	228509459		2153	4254	6407	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509459G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14917G>A	1.37:g.228509459G>A	ENSP00000409493:p.Val4973Met					OBSCN_ENST00000422127.1_Missense_Mutation_p.V4973M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V4973M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V2092M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V2607M	p.V5930M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			66	17862	+		Prostate(94;0.0405)	4973			PH.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.17788G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455707	0.84209	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	4.81	4.81	0.61882	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.086924	0.46442	D	0.000292	D	0.84929	0.5581	M	0.80183	2.485	0.39736	D	0.971673	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	D	0.87734	0.2581	10	0.72032	D	0.01	.	18.0781	0.89433	0.0:0.0:1.0:0.0	.	4973;4973	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	4973;4973;2607;2092	ENSP00000284548:V4973M;ENSP00000409493:V4973M;ENSP00000355668:V2607M;ENSP00000355670:V2092M	ENSP00000284548:V4973M	V	+	1	0	OBSCN	226576082	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	5.961000	0.70356	2.510000	0.84645	0.655000	0.94253	GTG		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	36	0	0	0	1	0	7	36				
TTC8	123016	broad.mit.edu	37	14	89307257	89307257	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:89307257C>T	ENST00000345383.5	+	3	368	c.284C>T	c.(283-285)cCt>cTt	p.P95L	TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000338104.6_Missense_Mutation_p.P95L|TTC8_ENST00000346301.4_Missense_Mutation_p.P95L|Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000380656.2_Missense_Mutation_p.P105L	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	105					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACAGGAGGGCCTAGCCAGGCC	0.393																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(283-285)cCt>cTt		tetratricopeptide repeat domain 8							53.0	56.0	55.0					14																	89307257		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89307257C>T	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.284C>T	14.37:g.89307257C>T	ENSP00000339486:p.Pro95Leu					TTC8_ENST00000346301.4_Missense_Mutation_p.P95L|TTC8_ENST00000345383.5_Missense_Mutation_p.P95L|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000380656.2_Missense_Mutation_p.P105L	p.P95L			Q8TAM2	TTC8_HUMAN			3	336	+			105					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.284C>T	CCDS9885.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062961	0.36373	.	.	ENSG00000165533	ENST00000343648;ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651	T;T;T;T	0.78707	-1.09;-1.2;-1.15;-1.09	5.09	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.67953	2.075	0.80722	D	1	D;D;P;D;B	0.60160	0.987;0.962;0.887;0.962;0.045	D;P;P;P;B	0.69824	0.966;0.622;0.596;0.7;0.034	T	0.83251	-0.0053	10	0.31617	T	0.26	-15.6693	13.9105	0.63864	0.0:0.9245:0.0:0.0755	.	105;95;105;95;105	Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4	TTC8_HUMAN;.;.;.;.	L	148;95;95;95;105;95	ENSP00000339486:P95L;ENSP00000298324:P95L;ENSP00000337653:P95L;ENSP00000370031:P105L	ENSP00000337653:P95L	P	+	2	0	TTC8	88377010	1.000000	0.71417	0.993000	0.49108	0.227000	0.25037	5.746000	0.68681	2.349000	0.79799	0.563000	0.77884	CCT		0.393	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		4	54	0	0	0	1	0	4	54				
OR5P2	120065	broad.mit.edu	37	11	7818223	7818223	+	Silent	SNP	G	G	A	rs554446114		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:7818223G>A	ENST00000329434.2	-	1	297	c.267C>T	c.(265-267)tcC>tcT	p.S89S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCCAAGGTAGGAGACTGTAT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17990	0.0		0.0	False		,,,				2504	0.001					ENST00000329434.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(265-267)tcC>tcT		olfactory receptor, family 5, subfamily P, member 2							94.0	113.0	107.0					11																	7818223		2101	4292	6393	SO:0001819	synonymous_variant	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818223G>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.267C>T	11.37:g.7818223G>A						RP11-35J10.5_ENST00000527565.1_lincRNA	p.S89S	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	297	-			89					Q3MIS8	Silent	SNP	ENST00000329434.2	37	c.267C>T	CCDS7782.1																																																																																				0.483	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		42	34	0	0	0	1	0	42	34				
LAMA3	3909	broad.mit.edu	37	18	21393044	21393044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:21393044G>A	ENST00000313654.9	+	14	2006	c.1765G>A	c.(1765-1767)Gct>Act	p.A589T	LAMA3_ENST00000399516.3_Missense_Mutation_p.A589T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	589	Domain V.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTGTGACCCAGCTGGTACCAT	0.348																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1765-1767)Gct>Act		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						88.0	84.0	85.0					18																	21393044		1825	4071	5896	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21393044G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1765G>A	18.37:g.21393044G>A	ENSP00000324532:p.Ala589Thr					LAMA3_ENST00000399516.3_Missense_Mutation_p.A589T	p.A589T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			14	2006	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		589			Domain V.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1765G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	9.619	1.133418	0.21041	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.35048	1.33;1.33	5.11	3.18	0.36537	EGF-like, laminin (1);	.	.	.	.	T	0.34424	0.0897	L	0.52823	1.66	0.09310	N	0.999997	P;B	0.39883	0.693;0.167	B;B	0.40782	0.34;0.109	T	0.10200	-1.0640	9	0.27082	T	0.32	.	10.1634	0.42866	0.0:0.1286:0.6065:0.2649	.	589;589	Q6VU67;Q16787	.;LAMA3_HUMAN	T	589;589;587	ENSP00000324532:A589T;ENSP00000382432:A589T	ENSP00000324532:A589T	A	+	1	0	LAMA3	19647042	0.014000	0.17966	0.084000	0.20598	0.348000	0.29142	1.168000	0.31859	1.236000	0.43740	0.655000	0.94253	GCT		0.348	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	89	0	0	0	1	0	9	89				
GLDN	342035	broad.mit.edu	37	15	51692646	51692646	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:51692646G>A	ENST00000335449.6	+	8	1034	c.978G>A	c.(976-978)gaG>gaA	p.E326E	GLDN_ENST00000396399.2_Silent_p.E202E	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	326	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGATAAGAGAGTCTGCTAACA	0.428																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(976-978)gaG>gaA		gliomedin							223.0	220.0	221.0					15																	51692646		2196	4293	6489	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51692646G>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.978G>A	15.37:g.51692646G>A						GLDN_ENST00000396399.2_Silent_p.E202E	p.E326E	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	8	1034	+			326			Olfactomedin-like.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.978G>A	CCDS10140.2																																																																																				0.428	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		14	179	0	0	0	1	0	14	179				
BAZ1B	9031	broad.mit.edu	37	7	72903658	72903658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:72903658C>T	ENST00000339594.4	-	6	1095	c.757G>A	c.(757-759)Gtt>Att	p.V253I	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V253I	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	253	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGTATCGAACTATCTCCTTA	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(757-759)Gtt>Att		bromodomain adjacent to zinc finger domain, 1B							163.0	145.0	151.0					7																	72903658		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72903658C>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.757G>A	7.37:g.72903658C>T	ENSP00000342434:p.Val253Ile					BAZ1B_ENST00000404251.1_Missense_Mutation_p.V253I	p.V253I	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			6	1095	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	253			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.757G>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	9.629	1.135930	0.21123	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.50277	0.75;0.75	5.88	5.0	0.66597	.	0.107479	0.64402	D	0.000005	T	0.21427	0.0516	N	0.02539	-0.55	0.28253	N	0.925198	B	0.14012	0.009	B	0.06405	0.002	T	0.09796	-1.0658	10	0.05436	T	0.98	-11.3325	15.9941	0.80228	0.0:0.1405:0.8595:0.0	.	253	Q9UIG0	BAZ1B_HUMAN	I	253	ENSP00000342434:V253I;ENSP00000385442:V253I	ENSP00000342434:V253I	V	-	1	0	BAZ1B	72541594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.548000	0.67255	1.494000	0.48533	-0.165000	0.13383	GTT		0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		17	133	0	0	0	1	0	17	133				
TLL2	7093	broad.mit.edu	37	10	98136530	98136530	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:98136530G>A	ENST00000357947.3	-	18	2592	c.2367C>T	c.(2365-2367)agC>agT	p.S789S		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	789	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCAGTTGGGGCTCGCCAGGG	0.562																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2365-2367)agC>agT		tolloid-like 2							72.0	72.0	72.0					10																	98136530		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98136530G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2367C>T	10.37:g.98136530G>A							p.S789S	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	18	2592	-		Colorectal(252;0.0846)	789			CUB 4.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.2367C>T	CCDS7449.1																																																																																				0.562	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			29	36	0	0	0	1	0	29	36				
ELAVL3	1995	broad.mit.edu	37	19	11565574	11565574	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11565574G>A	ENST00000359227.3	-	7	1295	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	ELAVL3_ENST00000438662.2_Silent_p.L284L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	291	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.L291L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCCGGTGACAGGTTGTACACG	0.647																																						ENST00000359227.3																			1	Substitution - coding silent(1)	p.L291L(1)	breast(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(871-873)Ctg>Ttg		ELAV like neuron-specific RNA binding protein 3							100.0	74.0	83.0					19																	11565574		2203	4300	6503	SO:0001819	synonymous_variant	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11565574G>A		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.871C>T	19.37:g.11565574G>A						ELAVL3_ENST00000438662.2_Silent_p.L284L	p.L291L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN			7	1295	-			291			RRM 3.		Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	c.871C>T	CCDS32912.1																																																																																				0.647	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		14	107	0	0	0	1	0	14	107				
WHSC1	7468	broad.mit.edu	37	4	1941411	1941411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:1941411C>T	ENST00000382895.3	+	11	2218	c.1787C>T	c.(1786-1788)cCa>cTa	p.P596L	WHSC1_ENST00000382892.2_Missense_Mutation_p.P596L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.P596L|WHSC1_ENST00000514045.1_Missense_Mutation_p.P596L|WHSC1_ENST00000420906.2_Missense_Mutation_p.P596L|WHSC1_ENST00000503128.1_Missense_Mutation_p.P596L|WHSC1_ENST00000398261.1_Missense_Mutation_p.P596L|WHSC1_ENST00000382891.5_Missense_Mutation_p.P596L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	596					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCATGTAAACCACTGAAGAAG	0.368			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(1786-1788)cCa>cTa		Wolf-Hirschhorn syndrome candidate 1							76.0	72.0	73.0					4																	1941411		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1941411C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1787C>T	4.37:g.1941411C>T	ENSP00000372351:p.Pro596Leu					WHSC1_ENST00000398261.1_Missense_Mutation_p.P596L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P596L|WHSC1_ENST00000514045.1_Missense_Mutation_p.P596L|WHSC1_ENST00000382891.5_Missense_Mutation_p.P596L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.P596L|WHSC1_ENST00000382895.3_Missense_Mutation_p.P596L|WHSC1_ENST00000420906.2_Missense_Mutation_p.P596L	p.P596L			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	9	1994	+		all_epithelial(65;1.34e-05)	596					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.1787C>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778442	0.90195	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;T;D;D;T;D;T;T	0.94828	-3.53;0.37;-3.53;-3.53;0.37;-3.53;0.35;0.35	5.63	5.63	0.86233	.	0.000000	0.52532	D	0.000075	D	0.96876	0.8980	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97140	0.9824	10	0.87932	D	0	.	19.6873	0.95984	0.0:1.0:0.0:0.0	.	596;596;596	O96028-3;O96028;O96028-5	.;NSD2_HUMAN;.	L	596	ENSP00000423972:P596L;ENSP00000421681:P596L;ENSP00000372347:P596L;ENSP00000372348:P596L;ENSP00000399251:P596L;ENSP00000372351:P596L;ENSP00000425761:P596L;ENSP00000381311:P596L	ENSP00000308780:P596L	P	+	2	0	WHSC1	1911209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.296000	0.65698	2.650000	0.89964	0.557000	0.71058	CCA		0.368	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		5	62	0	0	0	1	0	5	62				
FES	2242	broad.mit.edu	37	15	91436384	91436384	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:91436384C>T	ENST00000328850.3	+	15	2023	c.1881C>T	c.(1879-1881)acC>acT	p.T627T	FES_ENST00000444422.2_Silent_p.T557T|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Silent_p.T499T|FES_ENST00000414248.2_Silent_p.T499T|FES_ENST00000394300.3_Silent_p.T569T	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTGTCTGCACCCAGAAGCAGC	0.637																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1879-1881)acC>acT		feline sarcoma oncogene							124.0	88.0	100.0					15																	91436384		2198	4298	6496	SO:0001819	synonymous_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91436384C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1881C>T	15.37:g.91436384C>T						FES_ENST00000414248.2_Silent_p.T499T|FES_ENST00000444422.2_Silent_p.T557T|FES_ENST00000394300.3_Silent_p.T569T|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Silent_p.T499T	p.T627T	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		15	2023	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		627			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.1881C>T	CCDS10365.1																																																																																				0.637	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		10	22	0	0	0	1	0	10	22				
TFRC	7037	broad.mit.edu	37	3	195798293	195798293	+	Missense_Mutation	SNP	C	C	T	rs375469295		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195798293C>T	ENST00000360110.4	-	6	830	c.661G>A	c.(661-663)Gcg>Acg	p.A221T	TFRC_ENST00000535031.1_5'UTR|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000392396.3_Missense_Mutation_p.A221T|TFRC_ENST00000420415.1_Missense_Mutation_p.A140T|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	221					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TTACTATACGCCACATAACCC	0.383			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(661-663)Gcg>Acg		transferrin receptor		C	THR/ALA,THR/ALA	0,4406		0,0,2203	141.0	131.0	134.0		661,661	4.8	1.0	3		134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TFRC	NM_001128148.1,NM_003234.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	221/761,221/761	195798293	1,13005	2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195798293C>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.661G>A	3.37:g.195798293C>T	ENSP00000353224:p.Ala221Thr					TFRC_ENST00000392396.3_Missense_Mutation_p.A221T|TFRC_ENST00000420415.1_Missense_Mutation_p.A140T|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR	p.A221T	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	6	830	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		221					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.661G>A	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442168	0.63067	0.0	1.16E-4	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.10005	2.92;2.92;2.92	4.76	4.76	0.60689	.	0.106079	0.64402	D	0.000005	T	0.37293	0.0998	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.26950	-1.0088	10	0.72032	D	0.01	-19.7068	13.4648	0.61247	0.0:1.0:0.0:0.0	.	221	P02786	TFR1_HUMAN	T	221;140;221	ENSP00000353224:A221T;ENSP00000390133:A140T;ENSP00000376197:A221T	ENSP00000353224:A221T	A	-	1	0	TFRC	197282690	1.000000	0.71417	0.999000	0.59377	0.170000	0.22686	2.508000	0.45450	2.641000	0.89580	0.460000	0.39030	GCG		0.383	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			31	63	0	0	0	1	0	31	63				
CCDC88C	440193	broad.mit.edu	37	14	91773445	91773445	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:91773445G>A	ENST00000389857.6	-	18	3218	c.3132C>T	c.(3130-3132)ggC>ggT	p.G1044G		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1044					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTTCCTTATGGCCGGGCCCCC	0.647																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3130-3132)ggC>ggT		coiled-coil domain containing 88C							36.0	40.0	39.0					14																	91773445		1930	4122	6052	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91773445G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3132C>T	14.37:g.91773445G>A							p.G1044G	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			18	3218	-		all_cancers(154;0.0468)	1044					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.3132C>T	CCDS45151.1																																																																																				0.647	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		15	15	0	0	0	1	0	15	15				
GCK	2645	broad.mit.edu	37	7	44193011	44193011	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44193011C>T	ENST00000403799.3	-	2	566	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	GCK_ENST00000437084.1_Missense_Mutation_p.V33M|GCK_ENST00000476008.1_5'UTR|GCK_ENST00000345378.2_Missense_Mutation_p.V34M|GCK_ENST00000395796.3_Missense_Mutation_p.V32M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	33	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGTCTCATCACCTTCTTCAGG	0.632																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(97-99)Gtg>Atg		glucokinase (hexokinase 4)							239.0	209.0	219.0					7																	44193011		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44193011C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.97G>A	7.37:g.44193011C>T	ENSP00000384247:p.Val33Met					GCK_ENST00000395796.3_Missense_Mutation_p.V32M|GCK_ENST00000476008.1_5'UTR|GCK_ENST00000437084.1_Missense_Mutation_p.V33M|GCK_ENST00000345378.2_Missense_Mutation_p.V34M	p.V33M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			2	566	-			33					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.97G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691822	0.88735	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1	5.26	5.26	0.73747	Hexokinase, N-terminal (1);	0.198957	0.43416	D	0.000563	D	0.98413	0.9472	L	0.61387	1.9	0.58432	D	0.999992	D;D;D	0.67145	0.996;0.987;0.995	P;P;P	0.55824	0.785;0.532;0.678	D	0.98771	1.0728	10	0.87932	D	0	-42.7546	14.4685	0.67499	0.0:0.8529:0.147:0.0	.	33;34;32	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	M	33;32;34;33	ENSP00000384247:V33M;ENSP00000379142:V32M;ENSP00000223366:V34M;ENSP00000402840:V33M	ENSP00000223366:V34M	V	-	1	0	GCK	44159536	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.948000	0.56660	2.620000	0.88729	0.655000	0.94253	GTG		0.632	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			6	253	0	0	0	1	0	6	253				
RASSF5	83593	broad.mit.edu	37	1	206758571	206758571	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:206758571C>T	ENST00000355294.4	+	5	1105	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000304534.8_Missense_Mutation_p.P197S|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	350	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCTTGCTGGGCCTGACACGGA	0.562																																					GBM(162;656 1984 11916 22872 31529)	ENST00000304534.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(589-591)Cct>Tct		Ras association (RalGDS/AF-6) domain family member 5							176.0	180.0	178.0					1																	206758571		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206758571C>T	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1048C>T	1.37:g.206758571C>T	ENSP00000347443:p.Pro350Ser					RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000355294.4_Missense_Mutation_p.P350S|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_Intron|RASSF5_ENST00000338603.2_Missense_Mutation_p.P350S	p.P197S	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	998	+	Breast(84;0.183)		350					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.589C>T	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757349	0.89843	.	.	ENSG00000136653	ENST00000355294;ENST00000338603;ENST00000367118;ENST00000304534	T;T;T	0.28454	1.61;1.61;1.61	6.02	6.02	0.97574	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.974;0.999	T	0.56214	-0.8016	10	0.62326	D	0.03	-19.9327	19.5289	0.95219	0.0:1.0:0.0:0.0	.	348;197;350	E9PDW5;Q8WWW0-2;Q8WWW0	.;.;RASF5_HUMAN	S	350;350;350;197	ENSP00000347443:P350S;ENSP00000342620:P350S;ENSP00000306091:P197S	ENSP00000306091:P197S	P	+	1	0	RASSF5	204825194	1.000000	0.71417	0.996000	0.52242	0.677000	0.39632	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	CCT		0.562	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		5	243	0	0	0	1	0	5	243				
ACYP1	97	broad.mit.edu	37	14	75520183	75520183	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75520183C>T	ENST00000238618.3	-	3	367	c.264G>A	c.(262-264)ttG>ttA	p.L88L	ACYP1_ENST00000555463.1_Silent_p.L118L|MLH3_ENST00000556257.1_5'Flank|MLH3_ENST00000355774.2_5'Flank|MLH3_ENST00000380968.2_5'Flank|ACYP1_ENST00000357971.3_3'UTR|MLH3_ENST00000238662.7_5'Flank|ACYP1_ENST00000555694.1_Silent_p.L88L	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	88	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		AATCCAACTTCAAGATGACTT	0.348																																						ENST00000555463.1																			0				large_intestine(2)	2						c.(352-354)ttG>ttA		acylphosphatase 1, erythrocyte (common) type							183.0	176.0	178.0					14																	75520183		2203	4300	6503	SO:0001819	synonymous_variant	97				phosphate metabolic process		acylphosphatase activity	g.chr14:75520183C>T	X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.264G>A	14.37:g.75520183C>T						ACYP1_ENST00000357971.3_3'UTR|ACYP1_ENST00000555694.1_Silent_p.L88L|ACYP1_ENST00000238618.3_Silent_p.L88L	p.L118L			P07311	ACYP1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00646)	3	545	-			88					A6NDV8|B2R590	Silent	SNP	ENST00000238618.3	37	c.354G>A	CCDS9838.1																																																																																				0.348	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415013.1			19	129	0	0	0	1	0	19	129				
ZNF613	79898	broad.mit.edu	37	19	52448129	52448129	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52448129C>T	ENST00000293471.6	+	6	1672	c.993C>T	c.(991-993)ctC>ctT	p.L331L	ZNF613_ENST00000391794.4_Silent_p.L295L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGTCCAGGCTCACTGAACACC	0.468																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(991-993)ctC>ctT		zinc finger protein 613							80.0	84.0	83.0					19																	52448129		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448129C>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.993C>T	19.37:g.52448129C>T						ZNF613_ENST00000391794.4_Silent_p.L295L	p.L331L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1672	+		all_neural(266;0.117)	331					Q96SS9	Silent	SNP	ENST00000293471.6	37	c.993C>T	CCDS33089.1																																																																																				0.468	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		26	53	0	0	0	1	0	26	53				
FREM1	158326	broad.mit.edu	37	9	14775893	14775893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:14775893C>T	ENST00000380880.3	-	25	5534	c.4751G>A	c.(4750-4752)gGg>gAg	p.G1584E	FREM1_ENST00000422223.2_Missense_Mutation_p.G1584E|FREM1_ENST00000380894.1_Missense_Mutation_p.G120E|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380881.4_Missense_Mutation_p.G1585E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1584					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGGGAGTCCCCTCCTGAGTG	0.517																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4753-4755)gGg>gAg		FRAS1 related extracellular matrix 1							144.0	139.0	140.0					9																	14775893		1993	4175	6168	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14775893C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4751G>A	9.37:g.14775893C>T	ENSP00000370262:p.Gly1584Glu					FREM1_ENST00000422223.2_Missense_Mutation_p.G1584E|FREM1_ENST00000380880.3_Missense_Mutation_p.G1584E|FREM1_ENST00000380894.1_Missense_Mutation_p.G120E|FREM1_ENST00000486223.1_5'UTR	p.G1585E			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	26	5569	-			1584					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.4754G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378157	0.61735	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.93	5.93	0.95920	.	0.101421	0.64402	D	0.000002	T	0.62183	0.2407	M	0.73217	2.22	0.48975	D	0.999734	D;D	0.76494	0.999;0.999	D;D	0.70935	0.959;0.971	T	0.62234	-0.6897	10	0.54805	T	0.06	-11.9447	13.5312	0.61623	0.0:0.9294:0.0:0.0706	.	1584;120	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	E	1585;1584;120;1584	ENSP00000370263:G1585E;ENSP00000412940:G1584E;ENSP00000370278:G120E;ENSP00000370262:G1584E	ENSP00000370262:G1584E	G	-	2	0	FREM1	14765893	0.965000	0.33210	0.961000	0.40146	0.225000	0.24961	2.957000	0.49137	2.826000	0.97356	0.655000	0.94253	GGG		0.517	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		34	154	0	0	0	1	0	34	154				
CLIC1	1192	broad.mit.edu	37	6	31700114	31700114	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31700114G>A	ENST00000375780.2	-	6	1016	c.444C>T	c.(442-444)ctC>ctT	p.L148L	DDAH2_ENST00000375792.3_5'Flank|DDAH2_ENST00000375789.2_5'Flank|CLIC1_ENST00000375779.2_Silent_p.L148L|DDAH2_ENST00000375787.2_5'Flank|CLIC1_ENST00000395892.1_Silent_p.L148L|DDAH2_ENST00000480913.1_5'Flank|CLIC1_ENST00000375784.3_Silent_p.L148L			O00299	CLIC1_HUMAN	chloride intracellular channel 1	148	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CTTCTTCTGGGAGGGGGGATG	0.483																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(442-444)ctC>ctT		chloride intracellular channel 1							103.0	103.0	103.0					6																	31700114		2203	4300	6503	SO:0001819	synonymous_variant	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31700114G>A	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.444C>T	6.37:g.31700114G>A						CLIC1_ENST00000395892.1_Silent_p.L148L|CLIC1_ENST00000375779.2_Silent_p.L148L|CLIC1_ENST00000375784.3_Silent_p.L148L	p.L148L			O00299	CLIC1_HUMAN			6	1016	-			148			GST C-terminal.		Q15089|Q502X1	Silent	SNP	ENST00000375780.2	37	c.444C>T	CCDS4719.1																																																																																				0.483	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		42	72	0	0	0	1	0	42	72				
FAM161B	145483	broad.mit.edu	37	14	74404697	74404697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:74404697G>A	ENST00000534936.1	-	6	1624	c.1519C>T	c.(1519-1521)Cat>Tat	p.H507Y	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000286544.3_Missense_Mutation_p.H570Y			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	507										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AGGCTTTTATGGGGATCCATG	0.468																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1708-1710)Cat>Tat		family with sequence similarity 161, member B							159.0	157.0	158.0					14																	74404697		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74404697G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1519C>T	14.37:g.74404697G>A	ENSP00000445326:p.His507Tyr					RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000534936.1_Missense_Mutation_p.H507Y	p.H570Y	NM_152445.2	NP_689658.2					6	1906	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.1708C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.738611|4.738611	0.89573|0.89573	.|.	.|.	ENSG00000156050|ENSG00000156050	ENST00000286544;ENST00000534936|ENST00000556794	T;T|T	0.22336|0.22336	1.96;1.96|1.96	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.089387|.	0.48767|.	D|.	0.000170|.	T|T	0.46946|0.46946	0.1419|0.1419	M|M	0.78637|0.78637	2.42|2.42	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.31024|0.31024	-0.9958|-0.9958	10|6	0.48119|.	T|.	0.1|.	-17.7658|-17.7658	19.5125|19.5125	0.95148|0.95148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	507|.	Q96MY7|.	F161B_HUMAN|.	Y|L	570;507|34	ENSP00000286544:H570Y;ENSP00000445326:H507Y|ENSP00000450889:P34L	ENSP00000286544:H570Y|.	H|P	-|-	1|2	0|0	FAM161B|FAM161B	73474450|73474450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.734000|6.734000	0.74801|0.74801	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CAT|CCA		0.468	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		13	166	0	0	0	1	0	13	166				
FBXL13	222235	broad.mit.edu	37	7	102669193	102669193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:102669193G>A	ENST00000313221.4	-	4	497	c.71C>T	c.(70-72)aCt>aTt	p.T24I	FBXL13_ENST00000455112.2_Missense_Mutation_p.T24I|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.T24I|FBXL13_ENST00000393772.2_Missense_Mutation_p.T24I|FBXL13_ENST00000456695.1_Missense_Mutation_p.T24I|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000436908.1_Missense_Mutation_p.T24I|FBXL13_ENST00000379306.3_Missense_Mutation_p.T24I|FBXL13_ENST00000379305.3_Missense_Mutation_p.T24I	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	24								p.T24S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTCTCTCCAAGTGCTGCAGGC	0.313																																						ENST00000393772.2																			1	Substitution - Missense(1)	p.T24S(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(70-72)aCt>aTt		F-box and leucine-rich repeat protein 13							76.0	68.0	71.0					7																	102669193		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102669193G>A	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.71C>T	7.37:g.102669193G>A	ENSP00000321927:p.Thr24Ile					FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000313221.4_Missense_Mutation_p.T24I|FBXL13_ENST00000379308.3_Missense_Mutation_p.T24I|FBXL13_ENST00000379306.3_Missense_Mutation_p.T24I|FBXL13_ENST00000455112.2_Missense_Mutation_p.T24I|FBXL13_ENST00000456695.1_Missense_Mutation_p.T24I|FBXL13_ENST00000379305.3_Missense_Mutation_p.T24I|FBXL13_ENST00000436908.1_Missense_Mutation_p.T24I	p.T24I			Q8NEE6	FXL13_HUMAN			4	497	-			24					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.71C>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720352	0.30503	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	T;T;T;T;T;T;T;T;T	0.44482	3.23;3.23;3.07;3.23;3.22;3.22;3.07;3.23;0.92	3.94	-3.86	0.04230	.	1.332420	0.05100	N	0.487000	T	0.29882	0.0747	L	0.36672	1.1	0.09310	N	1	B;B;B	0.12630	0.006;0.004;0.003	B;B;B	0.11329	0.006;0.006;0.002	T	0.25187	-1.0139	10	0.44086	T	0.13	.	5.5144	0.16898	0.4663:0.3043:0.2295:0.0	.	24;24;24	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	I	24;24;24;24;24;24;24;24;114	ENSP00000377367:T24I;ENSP00000368610:T24I;ENSP00000368608:T24I;ENSP00000368607:T24I;ENSP00000388608:T24I;ENSP00000321927:T24I;ENSP00000409716:T24I;ENSP00000391550:T24I;ENSP00000390126:T114I	ENSP00000321927:T24I	T	-	2	0	FBXL13	102456429	0.000000	0.05858	0.001000	0.08648	0.575000	0.36095	-0.707000	0.05041	-0.947000	0.03673	0.460000	0.39030	ACT		0.313	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		22	86	0	0	0	1	0	22	86				
ZNF778	197320	broad.mit.edu	37	16	89294234	89294234	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89294234C>T	ENST00000433976.2	+	6	1786	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.A443V	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TGTGGCAAAGCCTTCACAGGG	0.498																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1453-1455)gCc>gTc		zinc finger protein 778							71.0	76.0	74.0					16																	89294234		2192	4298	6490	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294234C>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1454C>T	16.37:g.89294234C>T	ENSP00000405289:p.Ala485Val					RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.A443V	p.A485V	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1786	+			485					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1454C>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795884	0.70452	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.19105	2.17;2.17	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15003	0.0362	N	0.17922	0.545	0.19775	N	0.999952	P;P	0.45594	0.711;0.862	B;P	0.46208	0.373;0.507	T	0.12967	-1.0527	9	0.49607	T	0.09	.	5.1542	0.15027	0.0:0.622:0.378:0.0	.	443;485	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	V	485;443	ENSP00000405289:A485V;ENSP00000305203:A443V	ENSP00000305203:A443V	A	+	2	0	ZNF778	87821735	0.000000	0.05858	0.902000	0.35471	0.709000	0.40893	-0.100000	0.10990	0.916000	0.36871	0.545000	0.68477	GCC		0.498	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		23	41	0	0	0	1	0	23	41				
ATP2B4	493	broad.mit.edu	37	1	203676236	203676236	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:203676236C>T	ENST00000357681.5	+	9	2322	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	ATP2B4_ENST00000391954.2_Missense_Mutation_p.P400L|ATP2B4_ENST00000367219.3_Missense_Mutation_p.P388L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.P400L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.P400L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	400					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGTGTACTCCCATCTACATC	0.493																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1198-1200)cCc>cTc		ATPase, Ca++ transporting, plasma membrane 4							173.0	132.0	146.0					1																	203676236		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203676236C>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1199C>T	1.37:g.203676236C>T	ENSP00000350310:p.Pro400Leu					ATP2B4_ENST00000367219.3_Missense_Mutation_p.P388L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.P400L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.P400L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.P400L	p.P400L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		9	2322	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		400					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1199C>T	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490921	0.64074	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.93547	-3.23;-3.23;-3.24;-3.2;-3.23	6.17	6.17	0.99709	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.50627	D	0.000104	D	0.94463	0.8218	L	0.58428	1.81	0.80722	D	1	P;B;B	0.48589	0.912;0.002;0.338	P;B;B	0.50896	0.653;0.006;0.19	D	0.92864	0.6308	10	0.38643	T	0.18	-13.4321	20.4745	0.99168	0.0:1.0:0.0:0.0	.	400;400;400	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	L	400;400;388;400;400	ENSP00000350310:P400L;ENSP00000356187:P400L;ENSP00000356188:P388L;ENSP00000375816:P400L;ENSP00000340930:P400L	ENSP00000340930:P400L	P	+	2	0	ATP2B4	201942859	1.000000	0.71417	0.310000	0.25168	0.980000	0.70556	7.813000	0.86123	2.941000	0.99782	0.655000	0.94253	CCC		0.493	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		3	75	0	0	0	1	0	3	75				
ZNF782	158431	broad.mit.edu	37	9	99580294	99580294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:99580294C>T	ENST00000481138.1	-	6	2672	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	ZNF782_ENST00000535338.1_Missense_Mutation_p.E539K|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TAGGGTTTCTCCCCTGTGTGA	0.423																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(2011-2013)Gag>Aag		zinc finger protein 782							101.0	102.0	101.0					9																	99580294		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99580294C>T	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.2011G>A	9.37:g.99580294C>T	ENSP00000419397:p.Glu671Lys					ZNF782_ENST00000535338.1_Missense_Mutation_p.E539K	p.E671K	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	2672	-		Acute lymphoblastic leukemia(62;0.0527)	671					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.2011G>A	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.2|21.2	4.109045|4.109045	0.77096|0.77096	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|T	0.24350|0.01599	1.86;1.86|4.74	2.64|2.64	2.64|2.64	0.31445|0.31445	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.04861|0.04861	0.0131|0.0131	L|L	0.57130|0.57130	1.785|1.785	0.30071|0.30071	N|N	0.810004|0.810004	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	T|T	0.03344|0.03344	-1.1046|-1.1046	9|7	0.51188|0.72032	T|D	0.08|0.01	.|.	11.4496|11.4496	0.50145|0.50145	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	671|.	Q6ZMW2|.	ZN782_HUMAN|.	K|E	671;539|659	ENSP00000419397:E671K;ENSP00000440624:E539K|ENSP00000418686:G659E	ENSP00000419397:E671K|ENSP00000418686:G659E	E|G	-|-	1|2	0|0	ZNF782|ZNF782	98620115|98620115	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.897000|3.897000	0.56273|0.56273	1.769000|1.769000	0.52152|0.52152	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.423	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		43	69	0	0	0	1	0	43	69				
GIT2	9815	broad.mit.edu	37	12	110370913	110370913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:110370913G>A	ENST00000355312.3	-	20	2149	c.2150C>T	c.(2149-2151)aCc>aTc	p.T717I	TCHP_ENST00000550780.1_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.T619I|GIT2_ENST00000553118.1_Missense_Mutation_p.T589I|GIT2_ENST00000548655.1_5'Flank|GIT2_ENST00000354574.4_Missense_Mutation_p.T639I|GIT2_ENST00000551209.1_Missense_Mutation_p.T666I|GIT2_ENST00000457474.2_Missense_Mutation_p.T639I|GIT2_ENST00000361006.5_Missense_Mutation_p.T687I|GIT2_ENST00000343646.5_Missense_Mutation_p.T607I|GIT2_ENST00000360185.4_Missense_Mutation_p.T667I|GIT2_ENST00000356259.4_Missense_Mutation_p.T604I	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	717					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ccctgggagggtcttcttgca	0.557																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1999-2001)aCc>aTc		G protein-coupled receptor kinase interacting ArfGAP 2							87.0	72.0	77.0					12																	110370913		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110370913G>A	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.2150C>T	12.37:g.110370913G>A	ENSP00000347464:p.Thr717Ile					GIT2_ENST00000553118.1_Missense_Mutation_p.T589I|GIT2_ENST00000361006.5_Missense_Mutation_p.T687I|GIT2_ENST00000343646.5_Missense_Mutation_p.T607I|GIT2_ENST00000551209.1_Missense_Mutation_p.T666I|GIT2_ENST00000457474.2_Missense_Mutation_p.T639I|GIT2_ENST00000356259.4_Missense_Mutation_p.T604I|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.T619I|GIT2_ENST00000355312.3_Missense_Mutation_p.T717I|GIT2_ENST00000354574.4_Missense_Mutation_p.T639I	p.T667I			Q14161	GIT2_HUMAN			19	2164	-			717					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.2000C>T	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065846	0.55539	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000552978;ENST00000546613	T;T;T;T;T;T;T;T;T;T	0.74106	-0.69;-0.78;-0.63;-0.58;-0.75;-0.55;-0.6;-0.67;-0.67;-0.81	5.53	5.53	0.82687	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.190021	0.56097	D	0.000028	T	0.76147	0.3947	L	0.44542	1.39	0.26633	N	0.972425	B;B;B;P;B	0.34800	0.163;0.08;0.164;0.469;0.07	B;B;B;B;B	0.44133	0.192;0.192;0.152;0.442;0.166	T	0.72124	-0.4385	10	0.56958	D	0.05	.	18.4469	0.90688	0.0:0.0:1.0:0.0	.	639;639;589;717;687	Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;GIT2_HUMAN;.	I	717;667;639;619;607;604;639;687;589;666;103;103	ENSP00000347464:T717I;ENSP00000353312:T667I;ENSP00000346585:T639I;ENSP00000340342:T619I;ENSP00000340938:T607I;ENSP00000348595:T604I;ENSP00000391813:T639I;ENSP00000354282:T687I;ENSP00000447465:T589I;ENSP00000448832:T666I	ENSP00000340342:T619I	T	-	2	0	GIT2	108855296	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	8.010000	0.88615	2.593000	0.87608	0.455000	0.32223	ACC		0.557	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		10	8	0	0	0	1	0	10	8				
NFATC2	4773	broad.mit.edu	37	20	50140575	50140575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:50140575G>A	ENST00000396009.3	-	2	424	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F	NFATC2_ENST00000371564.3_Missense_Mutation_p.L69F|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.L49F|NFATC2_ENST00000414705.1_Missense_Mutation_p.L49F	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	69					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TATGGCTTGAGGCCATAGTCC	0.622																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(205-207)Ctc>Ttc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							44.0	50.0	48.0					20																	50140575		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140575G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.205C>T	20.37:g.50140575G>A	ENSP00000379330:p.Leu69Phe					NFATC2_ENST00000414705.1_Missense_Mutation_p.L49F|NFATC2_ENST00000396009.3_Missense_Mutation_p.L69F	p.L69F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	424	-	Hepatocellular(150;0.248)		69					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.205C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409821	0.62399	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.15952	2.38;2.38;2.38	5.43	5.43	0.79202	.	0.072956	0.56097	D	0.000027	T	0.29817	0.0745	L	0.29908	0.895	0.31444	N	0.671568	D;D;D;D	0.89917	0.995;0.999;1.0;0.99	P;D;D;P	0.80764	0.871;0.994;0.964;0.81	T	0.11817	-1.0572	10	0.62326	D	0.03	-20.4389	14.1064	0.65093	0.0:0.0:0.8496:0.1504	.	49;49;69;69	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	F	69;69;49	ENSP00000360619:L69F;ENSP00000379330:L69F;ENSP00000396471:L49F	ENSP00000360619:L69F	L	-	1	0	NFATC2	49573982	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.048000	0.57390	2.550000	0.86006	0.313000	0.20887	CTC		0.622	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		4	60	0	0	0	1	0	4	60				
PBX1	5087	broad.mit.edu	37	1	164790803	164790803	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:164790803G>A	ENST00000420696.2	+	8	1328	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	PBX1_ENST00000540246.1_Silent_p.Q275Q|PBX1_ENST00000540236.1_Silent_p.Q380Q|PBX1_ENST00000401534.1_Missense_Mutation_p.D343N|PBX1_ENST00000559240.1_Silent_p.Q289Q|PBX1_ENST00000560641.1_Silent_p.Q275Q|PBX1_ENST00000367897.1_Missense_Mutation_p.D343N	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	380					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTATCAGCCAGACAGGAGGAT	0.478			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000367897.1				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1027-1029)Gac>Aac		pre-B-cell leukemia homeobox 1							139.0	129.0	132.0					1																	164790803		2203	4300	6503	SO:0001819	synonymous_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164790803G>A	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1140G>A	1.37:g.164790803G>A						PBX1_ENST00000401534.1_Missense_Mutation_p.D343N|PBX1_ENST00000540246.1_Silent_p.Q275Q|PBX1_ENST00000420696.2_Silent_p.Q380Q|PBX1_ENST00000540236.1_Silent_p.Q380Q|PBX1_ENST00000559240.1_Silent_p.Q289Q|PBX1_ENST00000560641.1_Silent_p.Q275Q	p.D343N			P40424	PBX1_HUMAN			7	1027	+			0					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.1027G>A	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885069	0.72410	.	.	ENSG00000185630	ENST00000367897;ENST00000401534	D;D	0.87029	-2.2;-2.2	5.41	5.41	0.78517	.	.	.	.	.	T	0.73369	0.3578	.	.	.	0.20307	N	0.99992	B	0.22276	0.067	B	0.14578	0.011	T	0.69555	-0.5114	7	0.20519	T	0.43	-13.4632	18.7924	0.91980	0.0:0.0:1.0:0.0	.	343	Q53YC7	.	N	343	ENSP00000356872:D343N;ENSP00000384856:D343N	ENSP00000356872:D343N	D	+	1	0	PBX1	163057427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	2.527000	0.85204	0.563000	0.77884	GAC		0.478	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		15	37	0	0	0	1	0	15	37				
KANK3	256949	broad.mit.edu	37	19	8389655	8389655	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:8389655G>A	ENST00000593649.1	-	9	2207	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	KANK3_ENST00000330915.3_Silent_p.T714T			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	714										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACGCCAGTAGGGTTGCCACCA	0.652																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2140-2142)acC>acT		KN motif and ankyrin repeat domains 3							51.0	42.0	45.0					19																	8389655		2203	4300	6503	SO:0001819	synonymous_variant	256949							g.chr19:8389655G>A	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2142C>T	19.37:g.8389655G>A						KANK3_ENST00000593649.1_Silent_p.T714T	p.T714T	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			9	2207	-			714					Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2142C>T																																																																																					0.652	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		3	43	0	0	0	1	0	3	43				
KCNJ3	3760	broad.mit.edu	37	2	155711620	155711620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:155711620C>T	ENST00000295101.2	+	3	1778	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	434					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGAGACTTGCCCATGAAACTT	0.418																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1300-1302)cCc>cTc		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						64.0	72.0	69.0					2																	155711620		2202	4296	6498	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711620C>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1301C>T	2.37:g.155711620C>T	ENSP00000295101:p.Pro434Leu						p.P434L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1778	+			434					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1301C>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493182	0.84962	.	.	ENSG00000162989	ENST00000295101	D	0.94280	-3.39	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95248	0.8357	10	0.72032	D	0.01	.	19.3906	0.94581	0.0:1.0:0.0:0.0	.	434	P48549	IRK3_HUMAN	L	434	ENSP00000295101:P434L	ENSP00000295101:P434L	P	+	2	0	KCNJ3	155419866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	CCC		0.418	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		9	99	0	0	0	1	0	9	99				
MAPK8IP3	23162	broad.mit.edu	37	16	1816373	1816373	+	Missense_Mutation	SNP	C	C	T	rs373749828		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1816373C>T	ENST00000250894.4	+	22	2936	c.2779C>T	c.(2779-2781)Cca>Tca	p.P927S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P921S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	927					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)			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						CTTCACTGACCCAGCCCCGAC	0.701																																						ENST00000250894.4																			0				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						c.(2779-2781)Cca>Tca		mitogen-activated protein kinase 8 interacting protein 3		C	SER/PRO,SER/PRO	0,4042		0,0,2021	25.0	34.0	31.0		2761,2779	4.1	0.8	16		31	1,8333		0,1,4166	no	missense,missense	MAPK8IP3	NM_001040439.1,NM_015133.3	74,74	0,1,6187	TT,TC,CC		0.012,0.0,0.0081	benign,benign	921/1331,927/1337	1816373	1,12375	2021	4167	6188	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1816373C>T	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.2779C>T	16.37:g.1816373C>T	ENSP00000250894:p.Pro927Ser					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P921S	p.P927S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			22	2936	+			927					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2779C>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186931	0.38609	0.0	1.2E-4	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.35973	1.28;1.28	5.09	4.14	0.48551	.	0.256860	0.39274	N	0.001408	T	0.51398	0.1672	M	0.75777	2.31	0.51012	D	0.9999	P;B;B	0.51537	0.946;0.01;0.053	P;B;B	0.55055	0.767;0.018;0.092	T	0.52238	-0.8602	10	0.39692	T	0.17	-19.2037	12.7447	0.57276	0.0:0.9196:0.0:0.0804	.	928;921;927	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	S	927;921	ENSP00000250894:P927S;ENSP00000348290:P921S	ENSP00000250894:P927S	P	+	1	0	MAPK8IP3	1756374	0.998000	0.40836	0.764000	0.31436	0.137000	0.21094	5.178000	0.65037	1.156000	0.42514	0.561000	0.74099	CCA		0.701	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		6	28	0	0	0	1	0	6	28				
NUP93	9688	broad.mit.edu	37	16	56866245	56866245	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:56866245C>T	ENST00000308159.5	+	12	1411	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	NUP93_ENST00000569842.1_Silent_p.S430S|NUP93_ENST00000564887.1_Silent_p.S307S|NUP93_ENST00000542526.1_Silent_p.S307S	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	430					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCACCAGCTCCCCACAAGACA	0.473																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(919-921)tcC>tcT		nucleoporin 93kDa							178.0	158.0	165.0					16																	56866245		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56866245C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1290C>T	16.37:g.56866245C>T						NUP93_ENST00000569842.1_Silent_p.S430S|NUP93_ENST00000308159.5_Silent_p.S430S|NUP93_ENST00000542526.1_Silent_p.S307S	p.S307S	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			10	1550	+			430					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.921C>T	CCDS10769.1																																																																																				0.473	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		26	31	0	0	0	1	0	26	31				
TFIP11	24144	broad.mit.edu	37	22	26890777	26890777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:26890777G>A	ENST00000407690.1	-	13	2261	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	TFIP11_ENST00000405938.1_Missense_Mutation_p.P660S|TFIP11_ENST00000407431.1_Missense_Mutation_p.P660S|TFIP11_ENST00000407148.1_Missense_Mutation_p.P660S	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	660					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGCCACTTGGGGAAGAAGTGC	0.498																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1978-1980)Ccc>Tcc		tuftelin interacting protein 11							96.0	85.0	89.0					22																	26890777		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26890777G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1978C>T	22.37:g.26890777G>A	ENSP00000384421:p.Pro660Ser					TFIP11_ENST00000407431.1_Missense_Mutation_p.P660S|TFIP11_ENST00000407148.1_Missense_Mutation_p.P660S|TFIP11_ENST00000405938.1_Missense_Mutation_p.P660S	p.P660S	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			13	2261	-			660					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1978C>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616434	0.66672	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.53	4.52	0.55395	GC-rich sequence DNA-binding factor domain (1);	0.097316	0.64402	N	0.000001	T	0.46889	0.1416	L	0.58510	1.815	0.80722	D	1	B	0.31413	0.322	B	0.34536	0.185	T	0.49244	-0.8960	10	0.49607	T	0.09	-33.5268	13.4439	0.61129	0.0743:0.0:0.9257:0.0	.	660	Q9UBB9	TFP11_HUMAN	S	660;660;660;345;660	ENSP00000384421:P660S;ENSP00000383892:P660S;ENSP00000385861:P660S;ENSP00000384297:P660S	ENSP00000384297:P660S	P	-	1	0	TFIP11	25220777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.425000	0.52771	1.580000	0.49851	0.650000	0.86243	CCC		0.498	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		20	44	0	0	0	1	0	20	44				
BRWD3	254065	broad.mit.edu	37	X	79932631	79932631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:79932631G>A	ENST00000373275.4	-	41	5102	c.4886C>T	c.(4885-4887)tCc>tTc	p.S1629F	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1629					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATCTGTTCTGGAAGTTGATTC	0.383																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4885-4887)tCc>tTc		bromodomain and WD repeat domain containing 3							199.0	184.0	189.0					X																	79932631		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932631G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4886C>T	X.37:g.79932631G>A	ENSP00000362372:p.Ser1629Phe						p.S1629F	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	5102	-			1629					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4886C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.422933	0.25639	.	.	ENSG00000165288	ENST00000373275	T	0.79141	-1.24	4.43	3.56	0.40772	.	0.436614	0.22544	N	0.058693	T	0.51686	0.1689	N	0.08118	0	0.37508	D	0.917022	P	0.40476	0.718	B	0.31245	0.126	T	0.53767	-0.8392	9	.	.	.	-4.2575	9.935	0.41545	0.0979:0.0:0.9021:0.0	.	1629	Q6RI45	BRWD3_HUMAN	F	1629	ENSP00000362372:S1629F	.	S	-	2	0	BRWD3	79819287	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.565000	0.73974	0.876000	0.35872	0.506000	0.49869	TCC		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		55	111	0	0	0	1	0	55	111				
GPR156	165829	broad.mit.edu	37	3	119887078	119887078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:119887078C>T	ENST00000464295.1	-	10	1691	c.1246G>A	c.(1246-1248)Gtc>Atc	p.V416I	GPR156_ENST00000315843.3_Missense_Mutation_p.V416I|GPR156_ENST00000461057.1_Missense_Mutation_p.V412I			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGGTGTGGACCGAGGCTACC	0.627																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(1246-1248)Gtc>Atc		G protein-coupled receptor 156							28.0	33.0	31.0					3																	119887078		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119887078C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1246G>A	3.37:g.119887078C>T	ENSP00000417261:p.Val416Ile					GPR156_ENST00000315843.3_Missense_Mutation_p.V416I|GPR156_ENST00000461057.1_Missense_Mutation_p.V412I	p.V416I			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	1691	-			416					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1246G>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899716	0.33535	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.23754	1.89;1.89;1.89	5.65	3.62	0.41486	.	0.609525	0.15890	N	0.239591	T	0.14830	0.0358	L	0.29908	0.895	0.09310	N	1	P;P	0.34462	0.454;0.454	B;B	0.21917	0.037;0.037	T	0.13548	-1.0505	9	.	.	.	-0.0924	8.7765	0.34765	0.0:0.7597:0.1428:0.0975	.	412;416	E9PFZ4;Q8NFN8	.;GP156_HUMAN	I	416;416;412	ENSP00000417261:V416I;ENSP00000324553:V416I;ENSP00000418758:V412I	.	V	-	1	0	GPR156	121369768	0.001000	0.12720	0.017000	0.16124	0.139000	0.21198	0.591000	0.23969	0.741000	0.32674	0.655000	0.94253	GTC		0.627	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		5	38	0	0	0	1	0	5	38				
DSG1	1828	broad.mit.edu	37	18	28916498	28916498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:28916498G>A	ENST00000257192.4	+	9	1399	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	396	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTTGTAACTGGTAATATGGGA	0.383																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1186-1188)gGt>gAt		desmoglein 1							92.0	84.0	87.0					18																	28916498		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28916498G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1187G>A	18.37:g.28916498G>A	ENSP00000257192:p.Gly396Asp						p.G396D	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		9	1399	+			396			Cadherin 4.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1187G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	8.318	0.823683	0.16678	.	.	ENSG00000134760	ENST00000257192	T	0.60171	0.21	5.57	3.42	0.39159	Cadherin (2);Cadherin-like (1);	0.746500	0.12736	N	0.443455	T	0.39036	0.1063	N	0.19112	0.55	0.09310	N	0.999999	B	0.10296	0.003	B	0.12156	0.007	T	0.20538	-1.0272	10	0.42905	T	0.14	.	5.7734	0.18265	0.1487:0.2035:0.6478:0.0	.	396	Q02413	DSG1_HUMAN	D	396	ENSP00000257192:G396D	ENSP00000257192:G396D	G	+	2	0	DSG1	27170496	0.010000	0.17322	0.002000	0.10522	0.001000	0.01503	1.919000	0.40015	1.328000	0.45358	-0.300000	0.09419	GGT		0.383	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		7	60	0	0	0	1	0	7	60				
SF3B1	23451	broad.mit.edu	37	2	198270046	198270046	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:198270046G>A	ENST00000335508.6	-	10	1481	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	464	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAAAATGGAAGATTTCCAGAT	0.348			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1390-1392)Ctt>Ttt		splicing factor 3b, subunit 1, 155kDa							52.0	55.0	54.0					2																	198270046		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198270046G>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1390C>T	2.37:g.198270046G>A	ENSP00000335321:p.Leu464Phe						p.L464F	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		10	1481	-			464			Interaction with PPP1R8.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1390C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845138	0.91197	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	M	0.93854	3.465	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	D	0.89775	0.3957	9	0.87932	D	0	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	464	O75533	SF3B1_HUMAN	F	464	.	ENSP00000335321:L464F	L	-	1	0	SF3B1	197978291	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.665000	0.98609	2.710000	0.92621	0.655000	0.94253	CTT		0.348	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			7	47	0	0	0	1	0	7	47				
ZNF485	220992	broad.mit.edu	37	10	44104062	44104062	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:44104062G>A	ENST00000361807.3	+	3	219	c.25G>A	c.(25-27)Gga>Aga	p.G9R	ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Splice_Site_p.G9R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGTTTTGCAGGGACCGCTGAC	0.562																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.e3-1		zinc finger protein 485							141.0	132.0	135.0					10																	44104062		692	1591	2283	SO:0001630	splice_region_variant	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44104062G>A	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.25-1G>A	10.37:g.44104062G>A						ZNF485_ENST00000374435.3_Splice_Site_p.G9_splice|ZNF485_ENST00000374437.2_Intron	p.G9_splice	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			3	219	+			9					B4DSE6|Q96CL0	Splice_Site	SNP	ENST00000361807.3	37	c.24_splice	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302170	0.40694	.	.	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	T;T;T	0.00892	5.57;5.57;5.57	2.96	2.04	0.26737	Krueppel-associated box (1);	.	.	.	.	T	0.01353	0.0044	M	0.66560	2.04	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.51710	-0.8671	8	.	.	.	.	7.9061	0.29763	0.131:0.0:0.869:0.0	.	9	Q8NCK3	ZN485_HUMAN	R	9	ENSP00000354694:G9R;ENSP00000393570:G9R;ENSP00000363558:G9R	.	G	+	1	0	ZNF485	43424068	0.390000	0.25213	0.243000	0.24186	0.847000	0.48162	0.284000	0.18864	0.577000	0.29470	0.462000	0.41574	GGA		0.562	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312	Missense_Mutation	4	16	0	0	0	1	0	4	16				
ZNF227	7770	broad.mit.edu	37	19	44732748	44732748	+	Intron	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44732748C>T	ENST00000313040.7	+	4	392				ZNF227_ENST00000391961.2_Intron|ZNF227_ENST00000589005.1_Intron|ZNF227_ENST00000586228.1_Intron|ZNF227_ENST00000589707.1_Silent_p.T19T	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACTCTCTGACCCTGAACTTCA	0.463																																						ENST00000589707.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(55-57)acC>acT		zinc finger protein 227							161.0	147.0	152.0					19																	44732748		2203	4300	6503	SO:0001627	intron_variant	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44732748C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.187+23C>T	19.37:g.44732748C>T						ZNF227_ENST00000391961.2_Intron|ZNF227_ENST00000586228.1_Intron|ZNF227_ENST00000589005.1_Intron|ZNF227_ENST00000313040.7_Intron	p.T19T			Q86WZ6	ZN227_HUMAN			3	326	+		Prostate(69;0.0435)	0					B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	c.57C>T	CCDS12636.1																																																																																				0.463	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		8	106	0	0	0	1	0	8	106				
NUTM1	256646	broad.mit.edu	37	15	34648744	34648744	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:34648744G>A	ENST00000333756.4	+	7	2606	c.2451G>A	c.(2449-2451)agG>agA	p.R817R	NUTM1_ENST00000537011.1_Silent_p.R845R|NUTM1_ENST00000438749.3_Silent_p.R835R	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	817						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CACCCTTGAGGTCCAAAGAAA	0.522																																						ENST00000537011.1																			0											c.(2533-2535)agG>agA		NUT midline carcinoma, family member 1							51.0	55.0	54.0					15																	34648744		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34648744G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2451G>A	15.37:g.34648744G>A						NUTM1_ENST00000333756.4_Silent_p.R817R|NUTM1_ENST00000438749.3_Silent_p.R835R	p.R845R							8	2917	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.2535G>A	CCDS32190.1																																																																																				0.522	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		4	55	0	0	0	1	0	4	55				
PRR14	78994	broad.mit.edu	37	16	30667355	30667355	+	Missense_Mutation	SNP	C	C	T	rs200931201		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30667355C>T	ENST00000542965.2	+	11	1937	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	PRR14_ENST00000300835.4_Missense_Mutation_p.T494I|FBRS_ENST00000356166.6_5'Flank			Q9BWN1	PRR14_HUMAN	proline rich 14	494										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTGTTCAGGACCTTTGAGACC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19096	0.001		0.0	False		,,,				2504	0.0					ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1480-1482)aCc>aTc		proline rich 14							99.0	97.0	98.0					16																	30667355		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30667355C>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1481C>T	16.37:g.30667355C>T	ENSP00000441641:p.Thr494Ile					PRR14_ENST00000300835.4_Missense_Mutation_p.T494I	p.T494I			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		11	1937	+			494					Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.1481C>T	CCDS10687.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.71	2.318912	0.41096	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.47869	0.83;0.83	5.79	4.83	0.62350	.	0.351400	0.26883	N	0.022003	T	0.54143	0.1840	L	0.47716	1.5	0.31712	N	0.639411	D	0.59767	0.986	P	0.57057	0.812	T	0.62062	-0.6933	10	0.72032	D	0.01	-4.3354	11.4124	0.49933	0.0:0.9159:0.0:0.0841	.	494	Q9BWN1	PRR14_HUMAN	I	467;494;494	ENSP00000300835:T494I;ENSP00000441641:T494I	ENSP00000287463:T467I	T	+	2	0	PRR14	30574856	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	1.470000	0.35354	2.737000	0.93849	0.650000	0.86243	ACC		0.567	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		23	49	0	0	0	1	0	23	49				
ACACB	32	broad.mit.edu	37	12	109629439	109629439	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:109629439G>A	ENST00000338432.7	+	14	2285	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	ACACB_ENST00000377848.3_Silent_p.K722K|ACACB_ENST00000377854.5_Silent_p.K722K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	722	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)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGGCTTTGAAGGAACTGTCCA	0.483																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2164-2166)aaG>aaA		acetyl-CoA carboxylase beta	Biotin(DB00121)						178.0	161.0	167.0					12																	109629439		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109629439G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2166G>A	12.37:g.109629439G>A						ACACB_ENST00000377854.5_Silent_p.K722K|ACACB_ENST00000377848.3_Silent_p.K722K	p.K722K			O00763	ACACB_HUMAN			14	2285	+			722			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.2166G>A	CCDS31898.1																																																																																				0.483	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		26	48	0	0	0	1	0	26	48				
CSTF2T	23283	broad.mit.edu	37	10	53458244	53458244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:53458244C>T	ENST00000331173.4	-	1	1111	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	356	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TGGGGTGGACCCAGATAACCT	0.572																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1066-1068)Ggt>Agt		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							67.0	66.0	66.0					10																	53458244		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458244C>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1066G>A	10.37:g.53458244C>T	ENSP00000332444:p.Gly356Ser					PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	p.G356S	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1111	-			356			Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1066G>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302586	0.81136	.	.	ENSG00000177613	ENST00000331173	T	0.31510	1.49	4.9	4.9	0.64082	.	0.170648	0.50627	D	0.000112	T	0.45657	0.1353	L	0.59436	1.845	0.46901	D	0.999246	D	0.64830	0.994	P	0.61328	0.887	T	0.11179	-1.0598	10	0.23302	T	0.38	-12.0435	13.7858	0.63108	0.0:1.0:0.0:0.0	.	356	Q9H0L4	CSTFT_HUMAN	S	356	ENSP00000332444:G356S	ENSP00000332444:G356S	G	-	1	0	CSTF2T	53128250	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	2.737000	0.47393	2.719000	0.93026	0.655000	0.94253	GGT		0.572	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		6	92	0	0	0	1	0	6	92				
RNF19B	127544	broad.mit.edu	37	1	33402723	33402723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:33402723C>T	ENST00000373456.7	-	9	1882	c.1883G>A	c.(1882-1884)gGc>gAc	p.G628D	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.G627D	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	628	Poly-Gly.				interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTGCCTCCGCCACCACTACC	0.562																																						ENST00000373456.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1882-1884)gGc>gAc		ring finger protein 19B							141.0	127.0	131.0					1																	33402723		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402723C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1883G>A	1.37:g.33402723C>T	ENSP00000362555:p.Gly628Asp					RNF19B_ENST00000235150.4_Missense_Mutation_p.G627D|RNF19B_ENST00000356990.5_3'UTR	p.G628D	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN			9	1882	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	628			Poly-Gly.		B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1883G>A	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072247	0.01918	.	.	ENSG00000116514	ENST00000373456;ENST00000235150	T;T	0.30714	1.52;1.52	4.29	2.39	0.29439	.	0.763802	0.12337	N	0.477898	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.31024	-0.9958	10	0.13470	T	0.59	.	8.9749	0.35930	0.0:0.808:0.0:0.192	.	627;628	G3XA82;Q6ZMZ0	.;RN19B_HUMAN	D	628;627	ENSP00000362555:G628D;ENSP00000235150:G627D	ENSP00000235150:G627D	G	-	2	0	RNF19B	33175310	0.000000	0.05858	0.000000	0.03702	0.742000	0.42306	0.035000	0.13797	0.527000	0.28560	0.537000	0.68136	GGC		0.562	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		9	120	0	0	0	1	0	9	120				
ZNF394	84124	broad.mit.edu	37	7	99097389	99097389	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99097389C>T	ENST00000337673.6	-	1	531	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF394_ENST00000394177.3_5'UTR|ZNF394_ENST00000426306.2_Missense_Mutation_p.E110K|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	110	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	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)					AGGAACTGCTCCAGCACCAGC	0.667																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(328-330)Gag>Aag		zinc finger protein 394							65.0	69.0	67.0					7																	99097389		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097389C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.328G>A	7.37:g.99097389C>T	ENSP00000337363:p.Glu110Lys					ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.E110K	p.E110K	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			1	531	-	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)		110			SCAN box.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.328G>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259686	0.95368	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.16457	2.34;2.34	3.98	3.98	0.46160	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.49916	D	0.000131	T	0.54759	0.1878	H	0.97340	3.985	0.36097	D	0.843854	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.74503	-0.3644	10	0.87932	D	0	.	11.8572	0.52444	0.0:1.0:0.0:0.0	.	110;110	Q05DA6;Q53GI3	.;ZN394_HUMAN	K	110	ENSP00000337363:E110K;ENSP00000409565:E110K	ENSP00000337363:E110K	E	-	1	0	ZNF394	98935325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.976000	0.49289	2.515000	0.84797	0.561000	0.74099	GAG		0.667	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		4	168	0	0	0	1	0	4	168				
PPAN	56342	broad.mit.edu	37	19	10220634	10220634	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10220634G>A	ENST00000253107.7	+	7	742	c.636G>A	c.(634-636)aaG>aaA	p.K212K	SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Silent_p.K159K|P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Silent_p.K212K|PPAN-P2RY11_ENST00000428358.1_Silent_p.K212K|PPAN-P2RY11_ENST00000393796.4_Silent_p.K212K|SNORD105B_ENST00000458770.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	212	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGATGAAGAAGCTGCTCCAGG	0.642																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(634-636)aaG>aaA									112.0	118.0	116.0					19																	10220634		2203	4300	6503	SO:0001819	synonymous_variant	0				RNA splicing	nucleolus	protein binding	g.chr19:10220634G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.636G>A	19.37:g.10220634G>A						PPAN_ENST00000253107.7_Silent_p.K212K|PPAN_ENST00000556468.1_Silent_p.K212K|PPAN-P2RY11_ENST00000393796.4_Silent_p.K212K|PPAN_ENST00000393793.1_Silent_p.K159K	p.K212K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		7	808	+			212			Brix.		C9J3F9|Q9BW97|Q9H170	Silent	SNP	ENST00000253107.7	37	c.636G>A	CCDS12225.1																																																																																				0.642	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		8	106	0	0	0	1	0	8	106				
CCDC93	54520	broad.mit.edu	37	2	118766132	118766132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:118766132G>A	ENST00000376300.2	-	2	282	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	AC009303.1_ENST00000588042.1_RNA|AC009303.1_ENST00000590516.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.P49S	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	49								p.P49S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTGTCAAAGGGTGATAAGCCT	0.383																																						ENST00000376300.2																			1	Substitution - Missense(1)	p.P49S(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(145-147)Ccc>Tcc		coiled-coil domain containing 93							158.0	147.0	150.0					2																	118766132		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118766132G>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.145C>T	2.37:g.118766132G>A	ENSP00000365477:p.Pro49Ser					AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.P49S	p.P49S	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			2	282	-			49					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.145C>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408157	0.62399	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.42513	0.97;0.97	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.70595	2.14	0.58432	D	0.999995	P	0.49635	0.926	P	0.52646	0.705	T	0.50693	-0.8798	10	0.29301	T	0.29	-10.244	18.7313	0.91736	0.0:0.0:1.0:0.0	.	49	Q567U6	CCD93_HUMAN	S	49	ENSP00000365477:P49S;ENSP00000324135:P49S	ENSP00000324135:P49S	P	-	1	0	CCDC93	118482602	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.716000	0.92895	0.655000	0.94253	CCC		0.383	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		9	82	0	0	0	1	0	9	82				
SLC39A12	221074	broad.mit.edu	37	10	18284584	18284584	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:18284584G>A	ENST00000377369.2	+	10	1806		c.e10-1		SLC39A12_ENST00000377374.4_Splice_Site|SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000539911.1_Splice_Site	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATTTAAAATAGAAAAGCCCAG	0.343																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.e10-1		solute carrier family 39 (zinc transporter), member 12							37.0	44.0	41.0					10																	18284584		2199	4298	6497	SO:0001630	splice_region_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18284584G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1534-1G>A	10.37:g.18284584G>A						SLC39A12_ENST00000377374.4_Splice_Site|SLC39A12_ENST00000539911.1_Splice_Site|SLC39A12_ENST00000377371.3_Splice_Site		NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			10	1806	+								B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Splice_Site	SNP	ENST00000377369.2	37		CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394721	0.62066	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7473	0.69499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC39A12	18324590	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.362000	0.66098	2.579000	0.87056	0.650000	0.86243	.		0.343	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	Intron	5	95	0	0	0	1	0	5	95				
PCDHA11	56138	broad.mit.edu	37	5	140249171	140249171	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140249171C>T	ENST00000398640.2	+	1	483	c.483C>T	c.(481-483)gaC>gaT	p.D161D	PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	161	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGCTGACATTGAAGAGA	0.423																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(481-483)gaC>gaT									112.0	127.0	122.0					5																	140249171		2193	4297	6490	SO:0001819	synonymous_variant	0							g.chr5:140249171C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.483C>T	5.37:g.140249171C>T						PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.D161D	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	483	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.483C>T	CCDS47284.1																																																																																				0.423	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		29	162	0	0	0	1	0	29	162				
RBM48	84060	broad.mit.edu	37	7	92164046	92164046	+	Missense_Mutation	SNP	G	G	A	rs371939861		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:92164046G>A	ENST00000265732.5	+	4	820	c.779G>A	c.(778-780)gGt>gAt	p.G260D	RBM48_ENST00000481551.1_Missense_Mutation_p.G260D	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	260						nucleus (GO:0005634)	RNA binding (GO:0003723)										GCCTGCCCTGGTGCACAAAAG	0.423																																						ENST00000481551.1																			0											c.(778-780)gGt>gAt		RNA binding motif protein 48							65.0	60.0	62.0					7																	92164046		1902	4114	6016	SO:0001583	missense	84060						nucleotide binding	g.chr7:92164046G>A	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.779G>A	7.37:g.92164046G>A	ENSP00000265732:p.Gly260Asp					RBM48_ENST00000265732.5_Missense_Mutation_p.G260D	p.G260D			Q5RL73	CG064_HUMAN			4	820	+			260					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.779G>A	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605939	0.28623	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.19	-1.42	0.08913	.	1.051930	0.07371	N	0.885831	T	0.34395	0.0896	M	0.73962	2.25	0.09310	N	1	B;P	0.35077	0.003;0.483	B;B	0.30943	0.003;0.122	T	0.30765	-0.9967	9	0.37606	T	0.19	-10.5613	0.8233	0.01116	0.3795:0.1122:0.2564:0.2518	.	260;260	B7Z2K5;Q5RL73	.;CG064_HUMAN	D	260	.	ENSP00000265732:G260D	G	+	2	0	C7orf64	92001982	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.174000	0.16743	-0.186000	0.10533	-1.058000	0.02302	GGT		0.423	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		17	50	0	0	0	1	0	17	50				
FCGBP	8857	broad.mit.edu	37	19	40354301	40354301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40354301G>A	ENST00000221347.6	-	35	16175	c.16168C>T	c.(16168-16170)Cca>Tca	p.P5390S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5390	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCATCGCTGGCTTCTCCTGG	0.552																																						ENST00000221347.6																			0				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						c.(16168-16170)Cca>Tca		Fc fragment of IgG binding protein							97.0	83.0	87.0					19																	40354301		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40354301G>A	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.16168C>T	19.37:g.40354301G>A	ENSP00000221347:p.Pro5390Ser						p.P5390S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		35	16175	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5390			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.16168C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	4.032	0.003382	0.07866	.	.	ENSG00000090920	ENST00000221347	T	0.17213	2.29	5.7	-4.04	0.04010	von Willebrand factor, type D domain (1);	0.719989	0.11495	U	0.558264	T	0.10294	0.0252	L	0.49126	1.545	0.09310	N	1	B	0.18013	0.025	B	0.19148	0.024	T	0.40757	-0.9546	10	0.17369	T	0.5	.	1.0954	0.01672	0.1785:0.1846:0.3069:0.3301	.	5390	Q9Y6R7	FCGBP_HUMAN	S	5390	ENSP00000221347:P5390S	ENSP00000221347:P5390S	P	-	1	0	FCGBP	45046141	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.556000	0.05992	-1.131000	0.02910	-2.756000	0.00123	CCA		0.552	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		3	30	0	0	0	1	0	3	30				
NOBOX	135935	broad.mit.edu	37	7	144098506	144098506	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:144098506G>A	ENST00000467773.1	-	4	476	c.477C>T	c.(475-477)tgC>tgT	p.C159C	NOBOX_ENST00000483238.1_Silent_p.C159C|NOBOX_ENST00000223140.5_Silent_p.C74C	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	159					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGGGGGGCGGGCACAGTCTCC	0.637																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(475-477)tgC>tgT		NOBOX oogenesis homeobox							20.0	23.0	22.0					7																	144098506		1880	4098	5978	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098506G>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.477C>T	7.37:g.144098506G>A						NOBOX_ENST00000223140.5_Silent_p.C74C|NOBOX_ENST00000483238.1_Silent_p.C159C	p.C159C	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			4	476	-	Melanoma(164;0.14)		159					A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.477C>T																																																																																					0.637	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		15	39	0	0	0	1	0	15	39				
SLC9B2	133308	broad.mit.edu	37	4	103979026	103979026	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:103979026G>A	ENST00000394785.3	-	4	1005	c.374C>T	c.(373-375)gCc>gTc	p.A125V	SLC9B2_ENST00000362026.3_Missense_Mutation_p.A125V|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.A125V|SLC9B2_ENST00000503230.1_Intron	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	125					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										ACCAATGATGGCACAATAGAA	0.403																																						ENST00000394785.3																			0											c.(373-375)gCc>gTc		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							106.0	107.0	107.0					4																	103979026		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103979026G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.374C>T	4.37:g.103979026G>A	ENSP00000378265:p.Ala125Val					SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.A125V|SLC9B2_ENST00000362026.3_Missense_Mutation_p.A125V|SLC9B2_ENST00000503103.1_Intron	p.A125V	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			4	1005	-			125					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.374C>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016084	0.93404	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503818	T;T;T;T	0.28895	1.59;1.76;1.6;1.59	5.23	5.23	0.72850	.	0.276731	0.34460	N	0.003942	T	0.57755	0.2075	M	0.84219	2.685	0.53005	D	0.999969	D	0.60575	0.988	P	0.60473	0.875	T	0.61997	-0.6947	10	0.52906	T	0.07	-6.3265	19.1728	0.93585	0.0:0.0:1.0:0.0	.	125	Q86UD5	SL9B2_HUMAN	V	125;25;125;125;125	ENSP00000354574:A125V;ENSP00000421943:A25V;ENSP00000345241:A125V;ENSP00000378265:A125V	ENSP00000345241:A125V	A	-	2	0	SLC9B2	104198475	1.000000	0.71417	0.789000	0.31954	0.651000	0.38670	8.700000	0.91322	2.587000	0.87381	0.591000	0.81541	GCC		0.403	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		48	71	0	0	0	1	0	48	71				
LRP5	4041	broad.mit.edu	37	11	68115614	68115614	+	Missense_Mutation	SNP	C	C	T	rs368250404		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:68115614C>T	ENST00000294304.7	+	2	497	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	131	Beta-propeller 1.				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)			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						AGAGACCAACCGCATCGAGGT	0.647																																						ENST00000294304.7																			0				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						c.(391-393)Cgc>Tgc		low density lipoprotein receptor-related protein 5		C	CYS/ARG	0,4400		0,0,2200	109.0	101.0	104.0		391	3.7	1.0	11		104	1,8587	1.2+/-3.3	0,1,4293	no	missense	LRP5	NM_002335.2	180	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	131/1616	68115614	1,12987	2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68115614C>T	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.391C>T	11.37:g.68115614C>T	ENSP00000294304:p.Arg131Cys						p.R131C	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			2	497	+			131			Beta-propeller 1.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.391C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962783	0.53507	0.0	1.16E-4	ENSG00000162337	ENST00000294304	D	0.84370	-1.84	3.71	3.71	0.42584	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.45606	U	0.000346	D	0.91912	0.7439	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92651	0.6133	10	0.87932	D	0	.	11.2673	0.49118	0.2327:0.7673:0.0:0.0	.	131	O75197	LRP5_HUMAN	C	131	ENSP00000294304:R131C	ENSP00000294304:R131C	R	+	1	0	LRP5	67872190	1.000000	0.71417	0.993000	0.49108	0.285000	0.27093	4.643000	0.61390	2.067000	0.61834	0.561000	0.74099	CGC		0.647	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		30	88	0	0	0	1	0	30	88				
G6PC	2538	broad.mit.edu	37	17	41062980	41062980	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:41062980C>T	ENST00000253801.2	+	5	690	c.611C>T	c.(610-612)gCc>gTc	p.A204V	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	204					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATCTATAATGCCAGCCTCAAG	0.463																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(610-612)gCc>gTc		glucose-6-phosphatase, catalytic subunit							107.0	83.0	91.0					17																	41062980		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41062980C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.611C>T	17.37:g.41062980C>T	ENSP00000253801:p.Ala204Val					G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	p.A204V	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	690	+		Breast(137;0.000143)	204					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.611C>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012326	0.35511	.	.	ENSG00000131482	ENST00000253801	T	0.76968	-1.06	4.87	4.87	0.63330	.	0.057039	0.64402	D	0.000002	T	0.79598	0.4473	M	0.87038	2.855	0.80722	D	1	B	0.31413	0.322	B	0.32980	0.156	T	0.76537	-0.2923	10	0.16420	T	0.52	.	14.6808	0.69015	0.0:0.8544:0.1456:0.0	.	204	P35575	G6PC_HUMAN	V	204	ENSP00000253801:A204V	ENSP00000253801:A204V	A	+	2	0	G6PC	38316506	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	5.833000	0.69349	2.526000	0.85167	0.563000	0.77884	GCC		0.463	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		8	83	0	0	0	1	0	8	83				
PELI2	57161	broad.mit.edu	37	14	56763720	56763720	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:56763720A>G	ENST00000267460.4	+	6	1385	c.1099A>G	c.(1099-1101)Act>Gct	p.T367A		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	367					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TCATGCTTTCACTCCCTGTGG	0.547																																						ENST00000267460.4																			0				kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						c.(1099-1101)Act>Gct		pellino E3 ubiquitin protein ligase family member 2							173.0	145.0	154.0					14																	56763720		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56763720A>G	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.1099A>G	14.37:g.56763720A>G	ENSP00000267460:p.Thr367Ala						p.T367A	NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN			6	1385	+			367					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.1099A>G	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	A	6.377	0.437663	0.12104	.	.	ENSG00000139946	ENST00000267460	T	0.39997	1.05	5.83	2.15	0.27550	.	0.204940	0.52532	D	0.000069	T	0.10680	0.0261	N	0.00347	-1.61	0.32384	N	0.554186	B	0.02656	0.0	B	0.04013	0.001	T	0.13656	-1.0501	10	0.20046	T	0.44	-20.0682	8.1673	0.31235	0.6866:0.2477:0.0658:0.0	.	367	Q9HAT8	PELI2_HUMAN	A	367	ENSP00000267460:T367A	ENSP00000267460:T367A	T	+	1	0	PELI2	55833473	0.064000	0.20934	1.000000	0.80357	0.992000	0.81027	1.141000	0.31528	0.434000	0.26340	0.454000	0.30748	ACT		0.547	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			5	99	0	0	0	1	0	5	99				
IGLV7-46	28775	broad.mit.edu	37	22	22724390	22724390	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22724390C>T	ENST00000390295.2	+	0	320									immunoglobulin lambda variable 7-46 (gene/pseudogene)																		TGCCCTGACCCTTTTGGGTGC	0.552																																						ENST00000390295.2																			0																				43.0	42.0	42.0					22																	22724390		1926	4113	6039			0							g.chr22:22724390C>T	Z73674		22q11.2	2012-02-08	2008-09-12		ENSG00000211649	ENSG00000211649		"""Immunoglobulins / IGL locus"""	5930	other	immunoglobulin gene			"""immunoglobulin lambda variable 7-46"""				Standard	NG_000002		Approved				OTTHUMG00000151040		22.37:g.22724390C>T														0	320	+									RNA	SNP	ENST00000390295.2	37																																																																																						0.552	IGLV7-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321099.1	NG_000002		3	33	0	0	0	1	0	3	33				
KIF3A	11127	broad.mit.edu	37	5	132038352	132038352	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:132038352G>A	ENST00000378746.4	-	12	1793	c.1575C>T	c.(1573-1575)cgC>cgT	p.R525R	KIF3A_ENST00000403231.1_Silent_p.R552R|KIF3A_ENST00000378735.1_Silent_p.R528R|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'UTR	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	525					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAATATCCAAGCGTTCTTGCT	0.313																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1573-1575)cgC>cgT		kinesin family member 3A							122.0	125.0	124.0					5																	132038352		2203	4300	6503	SO:0001819	synonymous_variant	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132038352G>A	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1575C>T	5.37:g.132038352G>A						AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Silent_p.R552R|KIF3A_ENST00000378735.1_Silent_p.R528R|KIF3A_ENST00000487055.1_5'UTR	p.R525R	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1793	-		all_cancers(142;0.0751)|Breast(839;0.198)	525					A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Silent	SNP	ENST00000378746.4	37	c.1575C>T	CCDS34235.1																																																																																				0.313	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		11	40	0	0	0	1	0	11	40				
CES5A	221223	broad.mit.edu	37	16	55895374	55895374	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:55895374G>A	ENST00000290567.9	-	7	986	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	CES5A_ENST00000319165.9_Silent_p.L289L|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Silent_p.L259L|CES5A_ENST00000518005.1_Silent_p.L183L|CES5A_ENST00000521992.1_Silent_p.L318L	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	289						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGGCACCTCAGCAGGGCCTCA	0.547																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(952-954)Ctg>Ttg		carboxylesterase 5A							57.0	51.0	53.0					16																	55895374		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55895374G>A	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.865C>T	16.37:g.55895374G>A						CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Silent_p.L259L|CES5A_ENST00000290567.9_Silent_p.L289L|CES5A_ENST00000518005.1_Silent_p.L183L|CES5A_ENST00000319165.9_Silent_p.L289L	p.L318L	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			8	1097	-			289					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.952C>T	CCDS45490.1																																																																																				0.547	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		17	20	0	0	0	1	0	17	20				
NDRG1	10397	broad.mit.edu	37	8	134276827	134276827	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:134276827C>T	ENST00000414097.2	-	4	1035	c.168G>A	c.(166-168)cgG>cgA	p.R56R	NDRG1_ENST00000354944.5_Silent_p.R56R|NDRG1_ENST00000522476.1_5'UTR|NDRG1_ENST00000323851.7_Silent_p.R56R|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000537882.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	56					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGATGACAGGCCGGTTTCCCT	0.557			T	ERG	prostate																																	ENST00000414097.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(166-168)cgG>cgA		N-myc downstream regulated 1							177.0	146.0	156.0					8																	134276827		2203	4300	6503	SO:0001819	synonymous_variant	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134276827C>T	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.168G>A	8.37:g.134276827C>T						NDRG1_ENST00000537882.1_Intron|NDRG1_ENST00000522476.1_5'UTR|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000354944.5_Silent_p.R56R|NDRG1_ENST00000323851.7_Silent_p.R56R|NDRG1_ENST00000518176.1_Intron	p.R56R	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		4	1035	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		56					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Silent	SNP	ENST00000414097.2	37	c.168G>A	CCDS34945.1																																																																																				0.557	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			16	35	0	0	0	1	0	16	35				
HLA-DQB2	3120	broad.mit.edu	37	6	32729664	32729664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:32729664G>A	ENST00000437316.2	-	2	200	c.137C>T	c.(136-138)aCc>aTc	p.T46I	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.T46I|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.T46I			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	50	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|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)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTCCCGTTGGTGAAGTAGCA	0.632																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(136-138)aCc>aTc		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32729664G>A	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.137C>T	6.37:g.32729664G>A	ENSP00000396330:p.Thr46Ile					HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.T46I|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.T46I	p.T46I			Q5SR06	Q5SR06_HUMAN			2	198	-			46					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.137C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.73|11.73	1.724609|1.724609	0.30593|0.30593	.|.	.|.	ENSG00000232629|ENSG00000232629	ENST00000427449|ENST00000437316;ENST00000435145;ENST00000411527	.|T;T;T	.|0.00351	.|7.97;7.97;7.97	3.48|3.48	3.48|3.48	0.39840|0.39840	.|.	.|1.012410	.|0.07930	.|U	.|0.977398	T|T	0.00144|0.00144	0.0004|0.0004	L|L	0.49126|0.49126	1.545|1.545	0.32258|0.32258	N|N	0.570562|0.570562	.|B;B	.|0.32781	.|0.117;0.384	.|B;B	.|0.40101	.|0.264;0.319	T|T	0.28202|0.28202	-1.0051|-1.0051	5|10	.|0.72032	.|D	.|0.01	.|.	8.9883|8.9883	0.36008|0.36008	0.0:0.2285:0.7715:0.0|0.0:0.2285:0.7715:0.0	.|.	.|46;46	.|A2ADX3;Q5SR06	.|.;.	S|I	45|46	.|ENSP00000396330:T46I;ENSP00000410512:T46I;ENSP00000390431:T46I	.|ENSP00000390431:T46I	P|T	-|-	1|2	0|0	HLA-DQB2|HLA-DQB2	32837642|32837642	0.987000|0.987000	0.35691|0.35691	1.000000|1.000000	0.80357|0.80357	0.572000|0.572000	0.35998|0.35998	0.485000|0.485000	0.22324|0.22324	1.937000|1.937000	0.56155|0.56155	0.491000|0.491000	0.48974|0.48974	CCA|ACC		0.632	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			3	19	0	0	0	1	0	3	19				
NACA	4666	broad.mit.edu	37	12	57111542	57111542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57111542G>A	ENST00000454682.1	-	3	4053	c.3772C>T	c.(3772-3774)Cca>Tca	p.P1258S	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1258	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGGGGGGTGGGGTAGCTGGG	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3772-3774)Cca>Tca		nascent polypeptide-associated complex alpha subunit							43.0	63.0	57.0					12																	57111542		1214	2834	4048	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111542G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3772C>T	12.37:g.57111542G>A	ENSP00000403817:p.Pro1258Ser					NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron	p.P1258S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4053	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3772C>T		.	.	.	.	.	.	.	.	.	.	G	6.928	0.540853	0.13250	.	.	ENSG00000196531	ENST00000454682	T	0.55930	0.49	4.25	-2.16	0.07080	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	B	0.26081	0.141	B	0.20955	0.032	T	0.15636	-1.0430	7	.	.	.	.	2.1941	0.03906	0.1317:0.3448:0.2917:0.2319	.	1258	E9PAV3	.	S	1258	ENSP00000403817:P1258S	.	P	-	1	0	NACA	55397809	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.673000	0.05239	-0.084000	0.12595	0.298000	0.19748	CCA		0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	90	0	0	0	1	0	6	90				
SPAM1	6677	broad.mit.edu	37	7	123599958	123599958	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:123599958C>T	ENST00000439500.1	+	6	2078	c.1465C>T	c.(1465-1467)Cta>Tta	p.L489L	SPAM1_ENST00000340011.5_Silent_p.L489L|SPAM1_ENST00000460182.1_Silent_p.L489L|SPAM1_ENST00000402183.2_Silent_p.L489L|SPAM1_ENST00000223028.7_Silent_p.L489L	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	489					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCCTCCACACTATCTGCCAC	0.378																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1465-1467)Cta>Tta		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						123.0	115.0	118.0					7																	123599958		2203	4300	6503	SO:0001819	synonymous_variant	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599958C>T	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1465C>T	7.37:g.123599958C>T						SPAM1_ENST00000402183.2_Silent_p.L489L|SPAM1_ENST00000439500.1_Silent_p.L489L|SPAM1_ENST00000223028.7_Silent_p.L489L|SPAM1_ENST00000460182.1_Silent_p.L489L	p.L489L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			5	1822	+			489					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.1465C>T	CCDS5791.1																																																																																				0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			5	111	0	0	0	1	0	5	111				
DENND3	22898	broad.mit.edu	37	8	142176415	142176415	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:142176415C>T	ENST00000262585.2	+	12	1718	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	DENND3_ENST00000519811.1_Silent_p.A560A|DENND3_ENST00000424248.1_Silent_p.A428A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	480					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)			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)			AGGACATTGCCATGCCTGAGC	0.652																																						ENST00000519811.1																			0				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						c.(1678-1680)gcC>gcT		DENN/MADD domain containing 3							89.0	92.0	91.0					8																	142176415		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142176415C>T	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.1440C>T	8.37:g.142176415C>T						DENND3_ENST00000262585.2_Silent_p.A480A|DENND3_ENST00000424248.1_Silent_p.A428A	p.A560A			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		12	1750	+	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)		480					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.1680C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	8.739	0.918439	0.17982	.	.	ENSG00000105339	ENST00000518668	.	.	.	4.74	-6.92	0.01644	.	.	.	.	.	T	0.15912	0.0383	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	-11.4344	1.8861	0.03238	0.1803:0.2408:0.3743:0.2045	.	.	.	.	Y	485	.	.	H	+	1	0	DENND3	142245597	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-3.180000	0.00569	-1.089000	0.03073	0.561000	0.74099	CAT		0.652	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		27	114	0	0	0	1	0	27	114				
FAM89B	23625	broad.mit.edu	37	11	65340869	65340869	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65340869C>T	ENST00000530349.1	+	2	469	c.327C>T	c.(325-327)tgC>tgT	p.C109C	FAM89B_ENST00000316409.2_Intron|EHBP1L1_ENST00000309295.4_5'Flank|FAM89B_ENST00000449319.2_Missense_Mutation_p.P113S			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	109					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)			large_intestine(1)|urinary_tract(2)	3						CCTTGTTGTGCCAGCTGTGGG	0.627																																						ENST00000449319.2																			0				large_intestine(1)|urinary_tract(2)	3						c.(337-339)Cca>Tca		family with sequence similarity 89, member B							63.0	48.0	53.0					11																	65340869		2201	4295	6496	SO:0001819	synonymous_variant	23625							g.chr11:65340869C>T	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.327C>T	11.37:g.65340869C>T						FAM89B_ENST00000316409.2_Intron|FAM89B_ENST00000530349.1_Silent_p.C109C	p.P113S			Q8N5H3	FA89B_HUMAN			2	545	+			0					E9PB01|E9PL72|Q6PJ27	Missense_Mutation	SNP	ENST00000530349.1	37	c.337C>T	CCDS53662.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598514	0.66332	.	.	ENSG00000176973	ENST00000449319	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	T	0.62624	0.2443	.	.	.	0.80722	D	1	P	0.50943	0.94	P	0.49421	0.61	T	0.67917	-0.5546	7	0.87932	D	0	.	12.9889	0.58608	0.0:1.0:0.0:0.0	.	113	E9PB01	.	S	113	.	ENSP00000402439:P113S	P	+	1	0	FAM89B	65097445	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.326000	0.43849	2.443000	0.82685	0.491000	0.48974	CCA		0.627	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1	NM_152832		3	30	0	0	0	1	0	3	30				
SNIP1	79753	broad.mit.edu	37	1	38003587	38003587	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:38003587C>T	ENST00000296215.6	-	4	1025	c.953G>A	c.(952-954)gGc>gAc	p.G318D	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	318	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GCCAACTGTGCCATCAGCACG	0.453																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(952-954)gGc>gAc		Smad nuclear interacting protein 1							106.0	95.0	99.0					1																	38003587		2203	4300	6503	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003587C>T		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.953G>A	1.37:g.38003587C>T	ENSP00000296215:p.Gly318Asp						p.G318D	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			4	1025	-		Myeloproliferative disorder(586;0.0393)	318			FHA.		Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.953G>A	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913456	0.92178	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.41065	1.01	5.96	5.96	0.96718	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.69351	0.3101	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69587	-0.5105	10	0.56958	D	0.05	-20.0707	20.422	0.99049	0.0:1.0:0.0:0.0	.	318	Q8TAD8	SNIP1_HUMAN	D	318;302	ENSP00000296215:G318D	ENSP00000296215:G318D	G	-	2	0	SNIP1	37776174	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	7.429000	0.80309	2.832000	0.97577	0.655000	0.94253	GGC		0.453	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		5	64	0	0	0	1	0	5	64				
CYP2C18	1562	broad.mit.edu	37	10	96443601	96443601	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:96443601C>T	ENST00000285979.6	+	1	224	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	CYP2C18_ENST00000339022.5_Missense_Mutation_p.L9F	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	9					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GGCTCTGGTGCTCTGTCTCTC	0.502																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(25-27)Ctc>Ttc		cytochrome P450, family 2, subfamily C, polypeptide 18							133.0	114.0	120.0					10																	96443601		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96443601C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.25C>T	10.37:g.96443601C>T	ENSP00000285979:p.Leu9Phe					CYP2C18_ENST00000339022.5_Missense_Mutation_p.L9F	p.L9F	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	1	224	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.25C>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	12.84	2.057592	0.36277	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.73469	-0.75;-0.65	3.64	-0.46	0.12175	.	0.737547	0.12351	U	0.476530	T	0.65760	0.2722	L	0.58669	1.825	0.09310	N	1	B;B	0.24882	0.113;0.108	B;B	0.29942	0.031;0.109	T	0.56595	-0.7953	10	0.42905	T	0.14	.	3.9935	0.09548	0.1704:0.5143:0.0:0.3152	.	9;9	Q4VAT5;P33260	.;CP2CI_HUMAN	F	9	ENSP00000341293:L9F;ENSP00000285979:L9F	ENSP00000285979:L9F	L	+	1	0	CYP2C18	96433591	0.007000	0.16637	0.236000	0.24074	0.670000	0.39368	0.002000	0.13061	0.012000	0.14892	-0.463000	0.05309	CTC		0.502	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		19	42	0	0	0	1	0	19	42				
ZIC2	7546	broad.mit.edu	37	13	100635354	100635354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:100635354C>T	ENST00000376335.3	+	1	1329	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	346					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTCTTCGCGCGCTCCGAGAA	0.617																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1036-1038)Cgc>Tgc		Zic family member 2							56.0	62.0	60.0					13																	100635354		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635354C>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1036C>T	13.37:g.100635354C>T	ENSP00000365514:p.Arg346Cys						p.R346C	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1329	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		346					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1036C>T	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571631	0.65765	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.96265	-3.96	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.126247	0.50627	D	0.000119	D	0.96750	0.8939	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.96634	0.9469	10	0.87932	D	0	.	12.3338	0.55054	0.2706:0.7294:0.0:0.0	.	346	O95409	ZIC2_HUMAN	C	346;95	ENSP00000365514:R346C	ENSP00000365514:R346C	R	+	1	0	ZIC2	99433355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.970000	0.49240	2.539000	0.85634	0.561000	0.74099	CGC		0.617	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		10	69	0	0	0	1	0	10	69				
EHBP1L1	254102	broad.mit.edu	37	11	65349515	65349515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65349515C>T	ENST00000309295.4	+	9	1637	c.1372C>T	c.(1372-1374)Cct>Tct	p.P458S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	458						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCCTGAGGCTCCTCCAAGGGG	0.652																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1372-1374)Cct>Tct		EH domain binding protein 1-like 1							34.0	40.0	38.0					11																	65349515		1921	4120	6041	SO:0001583	missense	254102							g.chr11:65349515C>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1372C>T	11.37:g.65349515C>T	ENSP00000312671:p.Pro458Ser						p.P458S	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1637	+			458					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1372C>T	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202196	0.79127	.	.	ENSG00000173442	ENST00000309295	D	0.84070	-1.8	5.07	4.12	0.48240	.	0.093921	0.45361	D	0.000377	D	0.83737	0.5319	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	P	0.59761	0.863	D	0.85166	0.0995	10	0.87932	D	0	.	11.6493	0.51279	0.0:0.8222:0.1778:0.0	.	458	Q8N3D4	EH1L1_HUMAN	S	458	ENSP00000312671:P458S	ENSP00000312671:P458S	P	+	1	0	EHBP1L1	65106091	0.119000	0.22226	0.979000	0.43373	0.962000	0.63368	1.068000	0.30629	2.357000	0.79964	0.561000	0.74099	CCT		0.652	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		6	25	0	0	0	1	0	6	25				
AOC1	26	broad.mit.edu	37	7	150553913	150553913	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150553913C>T	ENST00000493429.1	+	4	939	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	AOC1_ENST00000360937.4_Silent_p.L119L|AOC1_ENST00000467291.1_Silent_p.L119L|AOC1_ENST00000416793.2_Silent_p.L119L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	119					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TGTGGGGCCCCTGCCAGGGCC	0.607																																						ENST00000493429.1																			0											c.(355-357)Ctg>Ttg		amine oxidase, copper containing 1							67.0	68.0	68.0					7																	150553913		1908	4119	6027	SO:0001819	synonymous_variant	26							g.chr7:150553913C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.355C>T	7.37:g.150553913C>T						AOC1_ENST00000467291.1_Silent_p.L119L|AOC1_ENST00000416793.2_Silent_p.L119L|AOC1_ENST00000360937.4_Silent_p.L119L	p.L119L							4	939	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.355C>T	CCDS43679.1																																																																																				0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		4	112	0	0	0	1	0	4	112				
ATG2A	23130	broad.mit.edu	37	11	64662536	64662536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64662536G>A	ENST00000377264.3	-	41	5838	c.5726C>T	c.(5725-5727)tCc>tTc	p.S1909F	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1911F	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1909					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)				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						GAGCAGGCTGGACGTGGCCTC	0.697																																						ENST00000421419.2																			0				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						c.(5731-5733)tCc>tTc		autophagy related 2A							59.0	56.0	57.0					11																	64662536		2201	4296	6497	SO:0001583	missense	23130						protein binding	g.chr11:64662536G>A		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.5726C>T	11.37:g.64662536G>A	ENSP00000366475:p.Ser1909Phe					ATG2A_ENST00000377264.3_Missense_Mutation_p.S1909F	p.S1911F			Q2TAZ0	ATG2A_HUMAN			41	5846	-			1909					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5732C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568574	0.65651	.	.	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.10192	2.9;2.91	3.99	3.99	0.46301	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	M	0.70595	2.14	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.03043	-1.1079	10	0.52906	T	0.07	.	13.9942	0.64386	0.0:0.0:1.0:0.0	.	1909;1911	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	F	1911;302;1909	ENSP00000410522:S1911F;ENSP00000366475:S1909F	ENSP00000366473:S302F	S	-	2	0	ATG2A	64419112	1.000000	0.71417	0.980000	0.43619	0.232000	0.25224	9.095000	0.94175	2.228000	0.72767	0.561000	0.74099	TCC		0.697	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		31	44	0	0	0	1	0	31	44				
STK36	27148	broad.mit.edu	37	2	219563703	219563703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219563703G>A	ENST00000295709.3	+	26	3715	c.3436G>A	c.(3436-3438)Gca>Aca	p.A1146T	STK36_ENST00000392106.2_Missense_Mutation_p.A1125T|STK36_ENST00000392105.3_Missense_Mutation_p.A1125T|STK36_ENST00000440309.1_Missense_Mutation_p.A1146T	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTGCGTGGGGCACTGCAGAG	0.617																																						ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(3436-3438)Gca>Aca		serine/threonine kinase 36							60.0	63.0	62.0					2																	219563703		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219563703G>A	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3436G>A	2.37:g.219563703G>A	ENSP00000295709:p.Ala1146Thr					STK36_ENST00000440309.1_Missense_Mutation_p.A1146T|STK36_ENST00000392105.3_Missense_Mutation_p.A1125T|STK36_ENST00000392106.2_Missense_Mutation_p.A1125T	p.A1146T	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	26	3715	+		Renal(207;0.0915)	1146						Missense_Mutation	SNP	ENST00000295709.3	37	c.3436G>A	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409065	0.83340	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.70399	0.63;0.63;-0.48;0.63	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.44902	D	0.000401	D	0.82393	0.5027	M	0.68317	2.08	0.36411	D	0.863712	D;D;D	0.69078	0.997;0.988;0.979	D;P;P	0.83275	0.996;0.778;0.604	T	0.83277	-0.0040	10	0.36615	T	0.2	-12.8007	16.0793	0.80989	0.0:0.0:1.0:0.0	.	1125;1125;1146	A8MU99;Q9NRP7-2;Q9NRP7	.;.;STK36_HUMAN	T	1146;1125;1125;1146	ENSP00000295709:A1146T;ENSP00000375955:A1125T;ENSP00000375954:A1125T;ENSP00000394095:A1146T	ENSP00000295709:A1146T	A	+	1	0	STK36	219271947	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.844000	0.48246	2.873000	0.98535	0.561000	0.74099	GCA		0.617	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			30	58	0	0	0	1	0	30	58				
TOX3	27324	broad.mit.edu	37	16	52484356	52484356	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:52484356G>A	ENST00000219746.9	-	4	795	c.511C>T	c.(511-513)Cct>Tct	p.P171S	TOX3_ENST00000407228.3_Missense_Mutation_p.P166S	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	171					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						AGCTGGGCAGGAGGCATGACC	0.592																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(511-513)Cct>Tct		TOX high mobility group box family member 3							149.0	155.0	153.0					16																	52484356		2144	4244	6388	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484356G>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.511C>T	16.37:g.52484356G>A	ENSP00000219746:p.Pro171Ser					TOX3_ENST00000407228.3_Missense_Mutation_p.P166S	p.P171S	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			4	795	-			171					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.511C>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	0.588	-0.834159	0.02713	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.39787	1.06;1.06	5.71	1.31	0.21738	.	0.456909	0.23191	N	0.050907	T	0.25494	0.0620	L	0.31664	0.95	0.35405	D	0.791946	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17531	-1.0366	10	0.20519	T	0.43	.	7.8931	0.29691	0.0636:0.2159:0.6094:0.1111	.	166;171	B4DRD0;O15405	.;TOX3_HUMAN	S	171;166	ENSP00000219746:P171S;ENSP00000385705:P166S	ENSP00000219746:P171S	P	-	1	0	TOX3	51041857	1.000000	0.71417	0.993000	0.49108	0.011000	0.07611	6.681000	0.74523	0.753000	0.32945	-0.300000	0.09419	CCT		0.592	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		27	80	0	0	0	1	0	27	80				
SNHG14	104472715	broad.mit.edu	37	15	25455145	25455145	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:25455145C>T	ENST00000424208.1	+	0	2384				SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACGCTGAGTCCCAGCCTAGGT	0.512																																						ENST00000424208.1																			0																				343.0	343.0	343.0					15																	25455145		876	1991	2867			0							g.chr15:25455145C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25455145C>T						SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2384	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.512	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			113	354	0	0	0	1	0	113	354				
SV2B	9899	broad.mit.edu	37	15	91769647	91769647	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:91769647G>A	ENST00000394232.1	+	2	624	c.154G>A	c.(154-156)Ggt>Agt	p.G52S	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.G52S|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	52					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CGAGTACCAGGGTATCCCTCA	0.562																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(154-156)Ggt>Agt		synaptic vesicle glycoprotein 2B							136.0	113.0	120.0					15																	91769647		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769647G>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.154G>A	15.37:g.91769647G>A	ENSP00000377779:p.Gly52Ser					SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.G52S	p.G52S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		2	624	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		52					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.154G>A	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504065	0.96371	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.32988	1.43;1.43	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52518	-0.8565	10	0.42905	T	0.14	-22.3369	18.4162	0.90571	0.0:0.0:1.0:0.0	.	52	Q7L1I2	SV2B_HUMAN	S	52	ENSP00000377779:G52S;ENSP00000332818:G52S	ENSP00000332818:G52S	G	+	1	0	SV2B	89570651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.594000	0.98254	2.703000	0.92315	0.563000	0.77884	GGT		0.562	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		3	41	0	0	0	1	0	3	41				
CAPZB	832	broad.mit.edu	37	1	19712055	19712055	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19712055C>T	ENST00000375142.1	-	3	205	c.159G>A	c.(157-159)aaG>aaA	p.K53K	CAPZB_ENST00000433834.1_Silent_p.K82K|CAPZB_ENST00000401084.2_Silent_p.K53K|CAPZB_ENST00000264203.3_Silent_p.K79K|CAPZB_ENST00000375144.1_Silent_p.K41K|CAPZB_ENST00000264202.6_Silent_p.K53K|CAPZB_ENST00000482808.1_5'UTR	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	53					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTCCCACCACCTTGTCTCTGG	0.532																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(235-237)aaG>aaA		capping protein (actin filament) muscle Z-line, beta							90.0	92.0	91.0					1																	19712055		1981	4163	6144	SO:0001819	synonymous_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19712055C>T	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.159G>A	1.37:g.19712055C>T						CAPZB_ENST00000375142.1_Silent_p.K53K|CAPZB_ENST00000264202.6_Silent_p.K53K|CAPZB_ENST00000375144.1_Silent_p.K41K|CAPZB_ENST00000433834.1_Silent_p.K82K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000401084.2_Silent_p.K53K	p.K79K			P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	4	730	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	53					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP	ENST00000375142.1	37	c.237G>A	CCDS55579.1																																																																																				0.532	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			3	56	0	0	0	1	0	3	56				
AKR1E2	83592	broad.mit.edu	37	10	4872886	4872886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:4872886C>T	ENST00000298375.7	+	2	130	c.59C>T	c.(58-60)aCc>aTc	p.T20I	AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000532248.1_Missense_Mutation_p.T20I|AKR1E2_ENST00000334019.4_Missense_Mutation_p.T20I|AKR1E2_ENST00000345253.5_Missense_Mutation_p.T20I	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	20						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGGAAAGTGACCGAGGCAGTG	0.507																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(58-60)aCc>aTc		aldo-keto reductase family 1, member E2							145.0	128.0	134.0					10																	4872886		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4872886C>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.59C>T	10.37:g.4872886C>T	ENSP00000298375:p.Thr20Ile					AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.T20I|AKR1E2_ENST00000532248.1_Missense_Mutation_p.T20I|AKR1E2_ENST00000334019.4_Missense_Mutation_p.T20I	p.T20I	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			2	130	+			20					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.59C>T	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.517846	0.27211	.	.	ENSG00000165568	ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	3.95	1.04	0.20106	NADP-dependent oxidoreductase domain (3);	0.182656	0.46442	D	0.000299	T	0.15782	0.0380	N	0.17723	0.515	0.39989	D	0.975014	P;B;P;P;B	0.49185	0.92;0.23;0.812;0.844;0.108	P;B;P;P;B	0.52957	0.714;0.047;0.447;0.583;0.055	T	0.18618	-1.0331	10	0.18710	T	0.47	.	4.9958	0.14237	0.1686:0.6385:0.0:0.1929	.	20;20;20;20;20	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	I	24;20;20;20;20	ENSP00000435436:T24I;ENSP00000298375:T20I;ENSP00000432947:T20I;ENSP00000335034:T20I;ENSP00000335603:T20I	ENSP00000298375:T20I	T	+	2	0	AKR1E2	4862886	0.000000	0.05858	0.078000	0.20375	0.156000	0.22039	0.008000	0.13197	0.236000	0.21180	0.561000	0.74099	ACC		0.507	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		21	71	0	0	0	1	0	21	71				
PNPLA5	150379	broad.mit.edu	37	22	44285350	44285350	+	Silent	SNP	C	C	A	rs370194974		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:44285350C>A	ENST00000597664.1	-	4	690	c.561G>T	c.(559-561)tcG>tcT	p.S187S	PNPLA5_ENST00000593866.1_Silent_p.S73S|PNPLA5_ENST00000381198.2_Silent_p.S73S|PNPLA5_ENST00000216177.4_Silent_p.S187S			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	187					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CATGGAAGGGCGACACCGTGA	0.572																																						ENST00000216177.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16						c.(559-561)tcG>tcT		patatin-like phospholipase domain containing 5							191.0	183.0	186.0					22																	44285350		2203	4300	6503	SO:0001819	synonymous_variant	150379				lipid catabolic process		hydrolase activity	g.chr22:44285350C>A	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.561G>T	22.37:g.44285350C>A						PNPLA5_ENST00000593866.1_Silent_p.S73S|PNPLA5_ENST00000597664.1_Silent_p.S187S|PNPLA5_ENST00000381198.2_Silent_p.S73S	p.S187S	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN			4	693	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	187					B1AHL8|B3KPR1|Q6ZST0	Silent	SNP	ENST00000597664.1	37	c.561G>T																																																																																					0.572	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		39	84	1	0	1.15505e-17	1	1.16103e-17	39	84				
MXRA5	25878	broad.mit.edu	37	X	3238765	3238765	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:3238765C>T	ENST00000217939.6	-	5	5115	c.4961G>A	c.(4960-4962)gGg>gAg	p.G1654E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1654						extracellular vesicular exosome (GO:0070062)				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)				TGGCAAAGCCCCAGAAGGATA	0.438																																						ENST00000217939.6																			0				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						c.(4960-4962)gGg>gAg		matrix-remodelling associated 5							163.0	158.0	160.0					X																	3238765		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238765C>T	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.4961G>A	X.37:g.3238765C>T	ENSP00000217939:p.Gly1654Glu						p.G1654E	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	5115	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1654					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.4961G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	6.407	0.443151	0.12164	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.60920	0.15	3.2	1.25	0.21368	.	0.181905	0.25581	U	0.029700	T	0.31358	0.0794	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.52906	T	0.07	.	6.0908	0.19993	0.0:0.4464:0.0:0.5536	.	1654	Q9NR99	MXRA5_HUMAN	E	1654	ENSP00000217939:G1654E	ENSP00000217939:G1654E	G	-	2	0	MXRA5	3248765	0.030000	0.19436	0.001000	0.08648	0.003000	0.03518	0.499000	0.22546	0.338000	0.23692	0.431000	0.28591	GGG		0.438	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		8	224	0	0	0	1	0	8	224				
MAGT1	84061	broad.mit.edu	37	X	77130992	77130992	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:77130992G>A	ENST00000373336.3	-	2	234	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	MAGT1_ENST00000358075.6_Missense_Mutation_p.P101S			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	69	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TAATTTCTCGGTGGGGCTTTC	0.413																																						ENST00000358075.6																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(301-303)Ccg>Tcg		magnesium transporter 1							238.0	219.0	225.0					X																	77130992		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77130992G>A		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.205C>T	X.37:g.77130992G>A	ENSP00000362433:p.Pro69Ser					MAGT1_ENST00000373336.3_Missense_Mutation_p.P69S	p.P101S	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN			2	387	-			69					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	37	c.301C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.086416	0.94100	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.20069	2.1;2.1	5.69	5.69	0.88448	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.53449	0.1797	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.57441	-0.7811	10	0.51188	T	0.08	-5.4719	18.8512	0.92230	0.0:0.0:1.0:0.0	.	69;101	Q9H0U3;B4DH58	MAGT1_HUMAN;.	S	101;69	ENSP00000354649:P101S;ENSP00000362433:P69S	ENSP00000354649:P101S	P	-	1	0	MAGT1	77017648	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.367000	0.97148	2.398000	0.81561	0.600000	0.82982	CCG		0.413	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		41	209	0	0	0	1	0	41	209				
STK10	6793	broad.mit.edu	37	5	171472014	171472014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:171472014C>T	ENST00000176763.5	-	19	3122	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	927					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTTCAGATCCTCTTCCAGA	0.592																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2779-2781)Gat>Aat		serine/threonine kinase 10							81.0	72.0	75.0					5																	171472014		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171472014C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2779G>A	5.37:g.171472014C>T	ENSP00000176763:p.Asp927Asn						p.D927N	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		19	3122	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	927					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2779G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381264	0.61845	.	.	ENSG00000072786	ENST00000176763;ENST00000520476;ENST00000545839	T	0.66815	-0.23	4.54	4.54	0.55810	.	0.060630	0.64402	D	0.000005	T	0.67335	0.2882	L	0.50333	1.59	0.45822	D	0.998697	P	0.38020	0.615	B	0.43867	0.434	T	0.72557	-0.4257	10	0.87932	D	0	.	14.7906	0.69841	0.0:1.0:0.0:0.0	.	927	O94804	STK10_HUMAN	N	927;218;927	ENSP00000176763:D927N	ENSP00000176763:D927N	D	-	1	0	STK10	171404619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.732000	0.84908	2.066000	0.61787	0.655000	0.94253	GAT		0.592	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		7	31	0	0	0	1	0	7	31				
POLR1B	84172	broad.mit.edu	37	2	113332949	113332949	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113332949C>T	ENST00000263331.5	+	15	3631	c.3051C>T	c.(3049-3051)gcC>gcT	p.A1017A	POLR1B_ENST00000417433.2_Silent_p.A961A|POLR1B_ENST00000541869.1_Silent_p.A1055A|POLR1B_ENST00000409894.3_Silent_p.A834A|POLR1B_ENST00000537335.1_Silent_p.A806A	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1017					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CAACTGGAGCCCGAGACAGAG	0.488																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3049-3051)gcC>gcT		polymerase (RNA) I polypeptide B, 128kDa							85.0	92.0	90.0					2																	113332949		2203	4300	6503	SO:0001819	synonymous_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113332949C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3051C>T	2.37:g.113332949C>T						POLR1B_ENST00000541869.1_Silent_p.A1055A|POLR1B_ENST00000417433.2_Silent_p.A961A|POLR1B_ENST00000409894.3_Silent_p.A834A|POLR1B_ENST00000537335.1_Silent_p.A806A	p.A1017A	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3631	+			1017					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	c.3051C>T	CCDS2097.1																																																																																				0.488	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		31	40	0	0	0	1	0	31	40				
ZBTB11	27107	broad.mit.edu	37	3	101395747	101395747	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:101395747C>T	ENST00000312938.4	-	1	592	c.12G>A	c.(10-12)gaG>gaA	p.E4E	ZBTB11_ENST00000461821.1_Silent_p.E4E|ZBTB11-AS1_ENST00000609682.1_RNA|ZBTB11-AS1_ENST00000536865.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTAGCTTTCCTCGCTTGACA	0.662																																						ENST00000536865.1																			0											c.(259-261)Ctc>Ttc									26.0	24.0	25.0					3																	101395747		2192	4293	6485	SO:0001819	synonymous_variant	0							g.chr3:101395747C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.12G>A	3.37:g.101395747C>T						ZBTB11_ENST00000461821.1_Silent_p.E4E|ZBTB11_ENST00000312938.4_Silent_p.E4E	p.L87F							1	474	+								Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.259C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274675	0.40194	.	.	ENSG00000256628	ENST00000536865	.	.	.	5.61	2.85	0.33270	.	0.608641	0.12384	N	0.473590	T	0.55065	0.1897	.	.	.	0.80722	D	1	B	0.14012	0.009	B	0.16722	0.016	T	0.49513	-0.8932	8	0.87932	D	0	-16.6344	11.1875	0.48666	0.0:0.7984:0.0:0.2016	.	87	Q9BTX9	YC010_HUMAN	F	87	.	ENSP00000444544:L87F	L	+	1	0	AC084198.1	102878437	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	2.139000	0.42149	0.318000	0.23185	0.585000	0.79938	CTC		0.662	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		4	42	0	0	0	1	0	4	42				
GPLD1	2822	broad.mit.edu	37	6	24445816	24445816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:24445816C>T	ENST00000230036.1	-	20	2088	c.1978G>A	c.(1978-1980)Ggg>Agg	p.G660R		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	660					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTCAGAGTCCCATTCATCAGT	0.473																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1978-1980)Ggg>Agg		glycosylphosphatidylinositol specific phospholipase D1							158.0	130.0	139.0					6																	24445816		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24445816C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1978G>A	6.37:g.24445816C>T	ENSP00000230036:p.Gly660Arg						p.G660R	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			20	2088	-			660					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.1978G>A	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274517	0.40194	.	.	ENSG00000112293	ENST00000230036	D	0.84873	-1.91	4.79	4.79	0.61399	.	0.338357	0.28901	N	0.013780	D	0.90504	0.7025	M	0.85630	2.765	0.80722	D	1	D	0.63046	0.992	P	0.60068	0.868	D	0.91455	0.5184	10	0.56958	D	0.05	-9.8134	16.0135	0.80420	0.0:1.0:0.0:0.0	.	660	P80108	PHLD_HUMAN	R	660	ENSP00000230036:G660R	ENSP00000230036:G660R	G	-	1	0	GPLD1	24553795	0.308000	0.24509	0.014000	0.15608	0.001000	0.01503	3.338000	0.52128	2.351000	0.79841	0.655000	0.94253	GGG		0.473	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		9	53	0	0	0	1	0	9	53				
ANKRD17	26057	broad.mit.edu	37	4	74027042	74027042	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:74027042C>T	ENST00000358602.4	-	3	687	c.571G>A	c.(571-573)Gat>Aat	p.D191N	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D191N|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D78N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	191					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTTACCATCAGCCGTGGAC	0.413																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(571-573)Gat>Aat		ankyrin repeat domain 17							115.0	105.0	109.0					4																	74027042		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74027042C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.571G>A	4.37:g.74027042C>T	ENSP00000351416:p.Asp191Asn					ANKRD17_ENST00000509867.2_Missense_Mutation_p.D78N|ANKRD17_ENST00000330838.6_Missense_Mutation_p.D191N	p.D191N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	687	-	Breast(15;0.000295)		191					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.571G>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524542	0.85600	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.68479	-0.31;-0.2;-0.33	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.74913	0.3779	L	0.46157	1.445	0.39935	D	0.974338	P;D;D;P	0.56968	0.894;0.978;0.962;0.668	P;P;P;B	0.58077	0.675;0.832;0.767;0.379	T	0.75096	-0.3438	10	0.45353	T	0.12	.	19.4722	0.94967	0.0:1.0:0.0:0.0	.	191;191;191;78	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	N	191;191;191;78;191	ENSP00000351416:D191N;ENSP00000332265:D191N;ENSP00000427151:D78N	ENSP00000332265:D191N	D	-	1	0	ANKRD17	74245906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.803000	0.85983	2.614000	0.88457	0.591000	0.81541	GAT		0.413	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		16	44	0	0	0	1	0	16	44				
UBR4	23352	broad.mit.edu	37	1	19524285	19524285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19524285G>A	ENST00000375254.3	-	7	799	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	UBR4_ENST00000375217.2_Missense_Mutation_p.R258C|UBR4_ENST00000375267.2_Missense_Mutation_p.R258C|UBR4_ENST00000375226.2_Missense_Mutation_p.R258C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	258					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)			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)		AAACATACACGCAGTAGCTTC	0.413																																						ENST00000375267.2																			0				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						c.(772-774)Cgt>Tgt		ubiquitin protein ligase E3 component n-recognin 4							125.0	121.0	123.0					1																	19524285		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19524285G>A	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.772C>T	1.37:g.19524285G>A	ENSP00000364403:p.Arg258Cys					UBR4_ENST00000375254.3_Missense_Mutation_p.R258C|UBR4_ENST00000375226.2_Missense_Mutation_p.R258C|UBR4_ENST00000375217.2_Missense_Mutation_p.R258C	p.R258C			Q5T4S7	UBR4_HUMAN		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)	7	775	-		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)	258					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.772C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908874	0.92107	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.23950	1.89;1.89;1.88;1.88	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.21211	-1.0252	10	0.66056	D	0.02	.	18.6148	0.91299	0.0:0.0:1.0:0.0	.	258	Q5T4S7	UBR4_HUMAN	C	258	ENSP00000364403:R258C;ENSP00000364416:R258C;ENSP00000364365:R258C;ENSP00000364374:R258C	ENSP00000364365:R258C	R	-	1	0	UBR4	19396872	1.000000	0.71417	0.991000	0.47740	0.870000	0.49936	3.484000	0.53201	2.740000	0.93945	0.650000	0.86243	CGT		0.413	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		60	88	0	0	0	1	0	60	88				
MAP3K13	9175	broad.mit.edu	37	3	185146769	185146769	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:185146769C>T	ENST00000265026.3	+	2	734	c.400C>T	c.(400-402)Cta>Tta	p.L134L	MAP3K13_ENST00000424227.1_Silent_p.L134L|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCTTGAAGGACTATTTGGATG	0.463																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(400-402)Cta>Tta		mitogen-activated protein kinase kinase kinase 13							95.0	97.0	96.0					3																	185146769		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185146769C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.400C>T	3.37:g.185146769C>T						MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.L134L|MAP3K13_ENST00000443863.1_Intron	p.L134L	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		2	734	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		134						Silent	SNP	ENST00000265026.3	37	c.400C>T	CCDS3270.1																																																																																				0.463	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		7	50	0	0	0	1	0	7	50				
KMT2A	4297	broad.mit.edu	37	11	118343380	118343380	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118343380G>A	ENST00000389506.5	+	3	1506	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E	KMT2A_ENST00000534358.1_Silent_p.E502E|KMT2A_ENST00000354520.4_Silent_p.E502E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	502			E -> K (in dbSNP:rs9332772). {ECO:0000269|Ref.3}.		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)										TTCCTGAGGAGCGGAGCGATA	0.502																																						ENST00000534358.1																			0											c.(1504-1506)gaG>gaA		lysine (K)-specific methyltransferase 2A							115.0	121.0	119.0					11																	118343380		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118343380G>A	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.1506G>A	11.37:g.118343380G>A						KMT2A_ENST00000354520.4_Silent_p.E502E|KMT2A_ENST00000389506.5_Silent_p.E502E	p.E502E	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1529	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.1506G>A	CCDS31686.1																																																																																				0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		65	120	0	0	0	1	0	65	120				
PADI3	51702	broad.mit.edu	37	1	17594442	17594442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:17594442G>A	ENST00000375460.3	+	6	677	c.637G>A	c.(637-639)Gtc>Atc	p.V213I		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	213					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACGGGCACAGGTCTTCCACAT	0.582																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(637-639)Gtc>Atc		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						176.0	122.0	141.0					1																	17594442		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17594442G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.637G>A	1.37:g.17594442G>A	ENSP00000364609:p.Val213Ile						p.V213I	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	6	677	+		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)	213					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.637G>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189772	0.57909	.	.	ENSG00000142619	ENST00000375460	T	0.18502	2.21	5.42	5.42	0.78866	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	M	0.67517	2.055	0.50039	D	0.999847	P	0.39094	0.659	B	0.36567	0.228	T	0.02037	-1.1225	10	0.34782	T	0.22	-40.4539	17.772	0.88495	0.0:0.0:1.0:0.0	.	213	Q9ULW8	PADI3_HUMAN	I	213	ENSP00000364609:V213I	ENSP00000364609:V213I	V	+	1	0	PADI3	17467029	1.000000	0.71417	0.982000	0.44146	0.024000	0.10985	8.628000	0.90979	2.543000	0.85770	0.561000	0.74099	GTC		0.582	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			6	101	0	0	0	1	0	6	101				
FAM179B	23116	broad.mit.edu	37	14	45497523	45497523	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45497523G>A	ENST00000361577.3	+	10	3863	c.3649G>A	c.(3649-3651)Gca>Aca	p.A1217T	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.A1217T|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1217										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGAGAAAATGGCATCTGAAAG	0.318																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(3649-3651)Gca>Aca		family with sequence similarity 179, member B							127.0	141.0	136.0					14																	45497523		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45497523G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3649G>A	14.37:g.45497523G>A	ENSP00000355045:p.Ala1217Thr					FAM179B_ENST00000361577.3_Missense_Mutation_p.A1217T|FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_Intron	p.A1217T			Q9Y4F4	F179B_HUMAN			10	3832	+			1217					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.3649G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	2.853	-0.237856	0.05944	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.10668	2.87;2.85	5.59	-7.2	0.01495	Armadillo-type fold (1);	1.332910	0.04971	N	0.463821	T	0.03651	0.0104	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38650	-0.9651	10	0.09084	T	0.74	2.3033	3.6823	0.08314	0.5604:0.1008:0.1353:0.2035	.	1217;1217	G3XAE9;Q9Y4F4	.;F179B_HUMAN	T	1217	ENSP00000355045:A1217T;ENSP00000354917:A1217T	ENSP00000354917:A1217T	A	+	1	0	FAM179B	44567273	0.000000	0.05858	0.019000	0.16419	0.957000	0.61999	-1.999000	0.01467	-1.779000	0.01280	0.563000	0.77884	GCA		0.318	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		31	60	0	0	0	1	0	31	60				
ERCC6L	54821	broad.mit.edu	37	X	71425711	71425711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:71425711C>T	ENST00000334463.3	-	2	3041	c.2906G>A	c.(2905-2907)aGt>aAt	p.S969N	ERCC6L_ENST00000373657.1_Missense_Mutation_p.S846N|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	969					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TAAAGACTGACTGGAAAAATT	0.428																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2536-2538)aGt>aAt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							71.0	70.0	70.0					X																	71425711		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425711C>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2906G>A	X.37:g.71425711C>T	ENSP00000334675:p.Ser969Asn					PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S969N	p.S846N			Q2NKX8	ERC6L_HUMAN			3	3139	-	Renal(35;0.156)		969					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2537G>A	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.186028	0.01620	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90324	-2.63;-2.65	5.58	-2.86	0.05717	.	.	.	.	.	T	0.79417	0.4442	L	0.35414	1.06	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.62072	-0.6931	9	0.22706	T	0.39	3.7254	0.7496	0.00988	0.264:0.1936:0.1281:0.4142	.	969	Q2NKX8	ERC6L_HUMAN	N	846;969	ENSP00000362761:S846N;ENSP00000334675:S969N	ENSP00000334675:S969N	S	-	2	0	ERCC6L	71342436	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.027000	0.13621	-0.340000	0.08388	-0.180000	0.13094	AGT		0.428	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		24	54	0	0	0	1	0	24	54				
CGN	57530	broad.mit.edu	37	1	151491372	151491372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:151491372C>T	ENST00000271636.7	+	2	510	c.377C>T	c.(376-378)gCc>gTc	p.A126V		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	120	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)			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)			GAGCCTGGGGCCTACTGGAAT	0.577																																						ENST00000271636.7																			0				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						c.(376-378)gCc>gTc		cingulin							42.0	43.0	42.0					1																	151491372		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491372C>T	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.377C>T	1.37:g.151491372C>T	ENSP00000271636:p.Ala126Val						p.A126V	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	510	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		120			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.377C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	5.392	0.257541	0.10239	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;T	0.64803	0.86;-0.12	5.06	-0.345	0.12624	.	1.121860	0.06385	N	0.715880	T	0.28200	0.0696	L	0.36672	1.1	0.09310	N	1	B	0.17038	0.02	B	0.19148	0.024	T	0.29518	-1.0009	10	0.40728	T	0.16	0.0821	6.3137	0.21178	0.3746:0.4798:0.0:0.1456	.	120	Q9P2M7	CING_HUMAN	V	126	ENSP00000410836:A126V;ENSP00000271636:A126V	ENSP00000271636:A126V	A	+	2	0	CGN	149757996	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	0.025000	0.13577	0.063000	0.16370	-0.136000	0.14681	GCC		0.577	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		3	36	0	0	0	1	0	3	36				
PDZD2	23037	broad.mit.edu	37	5	32074217	32074217	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:32074217G>A	ENST00000438447.1	+	18	3393	c.3005G>A	c.(3004-3006)aGg>aAg	p.R1002K	PDZD2_ENST00000282493.3_Missense_Mutation_p.R1002K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1002					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				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						GATGACCCGAGGCGTGTCTCA	0.572																																						ENST00000438447.1																			0				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						c.(3004-3006)aGg>aAg		PDZ domain containing 2							49.0	51.0	50.0					5																	32074217		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074217G>A	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.3005G>A	5.37:g.32074217G>A	ENSP00000402033:p.Arg1002Lys					PDZD2_ENST00000282493.3_Missense_Mutation_p.R1002K	p.R1002K			O15018	PDZD2_HUMAN			18	3393	+			1002					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3005G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394509	0.42512	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08102	3.13;3.13	5.67	3.83	0.44106	.	0.362765	0.23979	N	0.042695	T	0.05456	0.0144	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12837	0.001;0.008	T	0.36768	-0.9734	10	0.34782	T	0.22	.	7.1735	0.25732	0.0968:0.1792:0.724:0.0	.	828;1002	B4E3P2;O15018	.;PDZD2_HUMAN	K	1002;804;1002	ENSP00000402033:R1002K;ENSP00000282493:R1002K	ENSP00000282493:R1002K	R	+	2	0	PDZD2	32109974	0.021000	0.18746	0.001000	0.08648	0.001000	0.01503	1.831000	0.39141	0.690000	0.31570	0.563000	0.77884	AGG		0.572	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	37	0	0	0	1	0	6	37				
FAT4	79633	broad.mit.edu	37	4	126411744	126411744	+	Silent	SNP	C	C	T	rs369619007		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:126411744C>T	ENST00000394329.3	+	17	13780	c.13767C>T	c.(13765-13767)ccC>ccT	p.P4589P	FAT4_ENST00000335110.5_Silent_p.P2830P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4589					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGAAAACCCCTACCTTATCT	0.473																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13765-13767)ccC>ccT		FAT atypical cadherin 4		C		0,4406		0,0,2203	89.0	97.0	94.0		13767	-0.3	0.9	4		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAT4	NM_024582.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		4589/4982	126411744	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411744C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13767C>T	4.37:g.126411744C>T						FAT4_ENST00000335110.5_Silent_p.P2830P	p.P4589P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13780	+			4589					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.13767C>T	CCDS3732.3																																																																																				0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	66	0	0	0	1	0	5	66				
ARHGAP36	158763	broad.mit.edu	37	X	130217775	130217775	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:130217775G>A	ENST00000276211.5	+	4	732	c.387G>A	c.(385-387)aaG>aaA	p.K129K	ARHGAP36_ENST00000370922.1_Silent_p.K117K|ARHGAP36_ENST00000370921.1_5'UTR	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	129					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCCGCCGCAAGCATCTTGAAC	0.567																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(385-387)aaG>aaA		Rho GTPase activating protein 36							134.0	132.0	133.0					X																	130217775		2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217775G>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.387G>A	X.37:g.130217775G>A						ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Silent_p.K117K	p.K129K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			4	732	+			129					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.387G>A	CCDS14628.1																																																																																				0.567	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		41	103	0	0	0	1	0	41	103				
RHBDF2	79651	broad.mit.edu	37	17	74473845	74473845	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74473845G>A	ENST00000313080.4	-	7	1055	c.782C>T	c.(781-783)aCc>aTc	p.T261I	RHBDF2_ENST00000389760.4_Missense_Mutation_p.T232I|RHBDF2_ENST00000591885.1_Missense_Mutation_p.T232I|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	261					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CCGCTGTCCGGTGGCATCCAG	0.637																																						ENST00000591885.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						c.(694-696)aCc>aTc		rhomboid 5 homolog 2 (Drosophila)							69.0	56.0	61.0					17																	74473845		2203	4300	6503	SO:0001583	missense	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74473845G>A	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.782C>T	17.37:g.74473845G>A	ENSP00000322775:p.Thr261Ile					RHBDF2_ENST00000389760.4_Missense_Mutation_p.T232I|RHBDF2_ENST00000313080.4_Missense_Mutation_p.T261I	p.T232I			Q6PJF5	RHDF2_HUMAN			7	1245	-			261					A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	c.695C>T	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366013	0.41902	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.68765	-0.35;-0.35	5.43	5.43	0.79202	.	0.660297	0.15568	N	0.255593	T	0.62380	0.2423	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.34061	0.257;0.436;0.277;0.022	B;B;B;B	0.43155	0.082;0.41;0.371;0.02	T	0.57051	-0.7877	10	0.35671	T	0.21	-0.1098	12.9958	0.58646	0.0839:0.0:0.9161:0.0	.	232;207;261;232	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	I	261;232;207	ENSP00000322775:T261I;ENSP00000374410:T232I	ENSP00000322775:T261I	T	-	2	0	RHBDF2	71985440	0.243000	0.23878	0.009000	0.14445	0.831000	0.47069	3.655000	0.54460	2.538000	0.85594	0.491000	0.48974	ACC		0.637	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		8	81	0	0	0	1	0	8	81				
PLOD1	5351	broad.mit.edu	37	1	12024243	12024243	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:12024243C>T	ENST00000196061.4	+	12	1241	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V	PLOD1_ENST00000376369.3_Missense_Mutation_p.A452V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	405					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AACGTCATTGCCCCGCTGATG	0.617																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1213-1215)gCc>gTc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						150.0	146.0	147.0					1																	12024243		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12024243C>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1214C>T	1.37:g.12024243C>T	ENSP00000196061:p.Ala405Val					PLOD1_ENST00000376369.3_Missense_Mutation_p.A452V	p.A405V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1241	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	405					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1214C>T	CCDS142.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259509	0.95368	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	D;D	0.84944	-1.92;-1.92	5.51	5.51	0.81932	.	0.052299	0.85682	D	0.000000	D	0.92371	0.7579	M	0.82923	2.615	0.80722	D	1	D;D	0.67145	0.996;0.981	D;P	0.63703	0.917;0.767	D	0.92966	0.6393	10	0.62326	D	0.03	.	17.9839	0.89150	0.0:1.0:0.0:0.0	.	452;405	B4DR87;Q02809	.;PLOD1_HUMAN	V	452;405	ENSP00000365548:A452V;ENSP00000196061:A405V	ENSP00000196061:A405V	A	+	2	0	PLOD1	11946830	1.000000	0.71417	0.958000	0.39756	0.840000	0.47671	7.700000	0.84556	2.576000	0.86940	0.655000	0.94253	GCC		0.617	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		6	205	0	0	0	1	0	6	205				
SFRP4	6424	broad.mit.edu	37	7	37951884	37951884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:37951884C>T	ENST00000436072.2	-	4	1005	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	210	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCATTGCAGCCACTCCTCTGC	0.408																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(628-630)Ggc>Agc		secreted frizzled-related protein 4							120.0	112.0	115.0					7																	37951884		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37951884C>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.628G>A	7.37:g.37951884C>T	ENSP00000410715:p.Gly210Ser					EPDR1_ENST00000476620.1_Intron	p.G210S	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			4	1005	-			210			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.628G>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061462	0.76187	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.23348	1.91;1.91	5.9	5.9	0.94986	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.169048	0.53938	D	0.000048	T	0.20251	0.0487	N	0.25647	0.755	0.39045	D	0.960217	B	0.26318	0.146	B	0.34301	0.179	T	0.11036	-1.0604	10	0.34782	T	0.22	.	9.1589	0.37009	0.0:0.8456:0.0:0.1544	.	210	Q6FHJ7	SFRP4_HUMAN	S	210;207;76	ENSP00000410715:G210S;ENSP00000402262:G76S	ENSP00000410715:G210S	G	-	1	0	SFRP4	37918409	0.994000	0.37717	0.999000	0.59377	0.969000	0.65631	2.814000	0.48010	2.786000	0.95864	0.650000	0.86243	GGC		0.408	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		8	170	0	0	0	1	0	8	170				
SEL1L	6400	broad.mit.edu	37	14	81964384	81964384	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:81964384C>T	ENST00000336735.4	-	10	1096	c.980G>A	c.(979-981)aGt>aAt	p.S327N		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	327	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CGAGATATCACTAGCAACTGA	0.423																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(979-981)aGt>aAt		sel-1 suppressor of lin-12-like (C. elegans)							67.0	61.0	63.0					14																	81964384		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81964384C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.980G>A	14.37:g.81964384C>T	ENSP00000337053:p.Ser327Asn						p.S327N	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	10	1096	-			327			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.980G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969348	0.53614	.	.	ENSG00000071537	ENST00000336735	T	0.29142	1.58	5.55	5.55	0.83447	.	0.041854	0.85682	D	0.000000	T	0.26919	0.0659	L	0.32530	0.975	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.04565	-1.0942	10	0.19590	T	0.45	.	19.6873	0.95984	0.0:1.0:0.0:0.0	.	327	Q9UBV2	SE1L1_HUMAN	N	327	ENSP00000337053:S327N	ENSP00000337053:S327N	S	-	2	0	SEL1L	81034137	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.481000	0.60250	2.890000	0.99128	0.585000	0.79938	AGT		0.423	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		3	45	0	0	0	1	0	3	45				
TNFAIP1	7126	broad.mit.edu	37	17	26671580	26671580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26671580C>T	ENST00000226225.2	+	7	1172	c.905C>T	c.(904-906)aCt>aTt	p.T302I	POLDIP2_ENST00000003607.4_5'Flank|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.T198I	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	302					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGCTACAGCACTTACGATGAC	0.632																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(904-906)aCt>aTt		tumor necrosis factor, alpha-induced protein 1 (endothelial)							66.0	56.0	59.0					17																	26671580		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26671580C>T		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.905C>T	17.37:g.26671580C>T	ENSP00000226225:p.Thr302Ile					TNFAIP1_ENST00000544907.2_Missense_Mutation_p.T198I	p.T302I	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	7	1172	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		302					B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.905C>T	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021307	0.75275	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.53423	0.62	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	L	0.60455	1.87	0.80722	D	1	P	0.41080	0.737	P	0.45343	0.477	T	0.59075	-0.7522	10	0.87932	D	0	-10.2183	18.0256	0.89268	0.0:1.0:0.0:0.0	.	302	Q13829	BACD2_HUMAN	I	302;198	ENSP00000226225:T302I	ENSP00000226225:T302I	T	+	2	0	TNFAIP1	23695707	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.351000	0.66022	2.724000	0.93272	0.563000	0.77884	ACT		0.632	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		19	27	0	0	0	1	0	19	27				
EVPL	2125	broad.mit.edu	37	17	74007866	74007866	+	Missense_Mutation	SNP	C	C	T	rs200008907		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74007866C>T	ENST00000301607.3	-	20	2808	c.2555G>A	c.(2554-2556)aGc>aAc	p.S852N	EVPL_ENST00000586740.1_Missense_Mutation_p.S874N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	852	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCTTGGATGCTCTCTTGCAG	0.627																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2554-2556)aGc>aAc		envoplakin							31.0	33.0	32.0					17																	74007866		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74007866C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2555G>A	17.37:g.74007866C>T	ENSP00000301607:p.Ser852Asn					EVPL_ENST00000586740.1_Missense_Mutation_p.S874N	p.S852N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			20	2808	-			852			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.2555G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.143884	0.37825	.	.	ENSG00000167880	ENST00000301607	T	0.65364	-0.15	5.49	4.51	0.55191	.	0.229060	0.46758	N	0.000280	T	0.52980	0.1768	L	0.43701	1.375	0.31898	N	0.616312	B;B	0.15930	0.009;0.015	B;B	0.11329	0.006;0.006	T	0.56159	-0.8025	10	0.27785	T	0.31	-27.288	12.9881	0.58604	0.0:0.9242:0.0:0.0758	.	874;852	B7ZLH8;Q92817	.;EVPL_HUMAN	N	852	ENSP00000301607:S852N	ENSP00000301607:S852N	S	-	2	0	EVPL	71519461	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	2.693000	0.47027	1.294000	0.44707	0.655000	0.94253	AGC		0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		3	31	0	0	0	1	0	3	31				
VPS13C	54832	broad.mit.edu	37	15	62165555	62165555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:62165555C>T	ENST00000261517.5	-	78	10541	c.10468G>A	c.(10468-10470)Gca>Aca	p.A3490T	VPS13C_ENST00000395898.3_Missense_Mutation_p.A3447T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A3447T|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395896.4_Missense_Mutation_p.A3490T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											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						GTAATTGCTGCCAAACCTTTC	0.443																																						ENST00000261517.5																			0				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						c.(10468-10470)Gca>Aca		vacuolar protein sorting 13 homolog C (S. cerevisiae)							199.0	192.0	194.0					15																	62165555		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62165555C>T	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.10468G>A	15.37:g.62165555C>T	ENSP00000261517:p.Ala3490Thr					VPS13C_ENST00000395898.3_Missense_Mutation_p.A3447T|VPS13C_ENST00000395896.4_Missense_Mutation_p.A3490T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A3447T	p.A3490T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			78	10541	-			3490						Missense_Mutation	SNP	ENST00000261517.5	37	c.10468G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	36	5.925125	0.97110	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.55234	0.53;0.53;0.74	6.02	6.02	0.97574	.	0.049328	0.85682	D	0.000000	T	0.77239	0.4101	M	0.84156	2.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	T	0.78560	-0.2157	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	3447;3490;3447;3490	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	T	3447;3490;3490;3490	ENSP00000249837:A3447T;ENSP00000261517:A3490T;ENSP00000379233:A3490T	ENSP00000249837:A3447T	A	-	1	0	VPS13C	59952847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.759000	0.85235	2.865000	0.98341	0.655000	0.94253	GCA		0.443	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		50	92	0	0	0	1	0	50	92				
USP1	7398	broad.mit.edu	37	1	62916167	62916167	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:62916167G>A	ENST00000339950.4	+	9	2688	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	USP1_ENST00000371146.1_Missense_Mutation_p.E625K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	625	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGGTAAGCCAGAACCATTGAA	0.378																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(1873-1875)Gaa>Aaa		ubiquitin specific peptidase 1							73.0	68.0	70.0					1																	62916167		2203	4300	6503	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62916167G>A		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1873G>A	1.37:g.62916167G>A	ENSP00000343526:p.Glu625Lys					USP1_ENST00000371146.1_Missense_Mutation_p.E625K	p.E625K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	9	2688	+		all_neural(321;0.0281)	625					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.1873G>A	CCDS621.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.774988	0.70107	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.23348	1.91;1.91	5.64	4.72	0.59763	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.196984	0.52532	N	0.000074	T	0.29389	0.0732	N	0.22421	0.69	0.51482	D	0.999928	P	0.50819	0.939	P	0.53988	0.739	T	0.03795	-1.1003	10	0.42905	T	0.14	-14.7575	14.5777	0.68262	0.0694:0.0:0.9305:0.0	.	625	O94782	UBP1_HUMAN	K	625	ENSP00000360188:E625K;ENSP00000343526:E625K	ENSP00000343526:E625K	E	+	1	0	USP1	62688755	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.792000	0.69052	1.612000	0.50221	0.650000	0.86243	GAA		0.378	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		13	30	0	0	0	1	0	13	30				
NFKB1	4790	broad.mit.edu	37	4	103498106	103498106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:103498106G>A	ENST00000505458.1	+	7	755	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	NFKB1_ENST00000226574.4_Missense_Mutation_p.A161T|NFKB1_ENST00000600343.1_5'Flank|NFKB1_ENST00000394820.4_Missense_Mutation_p.A160T|NFKB1_ENST00000510638.1_3'UTR			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	160	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|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 calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	AATGACAGAGGCGTGTATAAG	0.483																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(481-483)Gcg>Acg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						140.0	136.0	137.0					4																	103498106		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103498106G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.478G>A	4.37:g.103498106G>A	ENSP00000424790:p.Ala160Thr					NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000505458.1_Missense_Mutation_p.A160T|NFKB1_ENST00000394820.4_Missense_Mutation_p.A160T	p.A161T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	7	948	+		Hepatocellular(203;0.217)	160			RHD.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.481G>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649406	0.87958	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000507079;ENST00000505458	T;T;T	0.38722	1.13;1.12;1.12	5.27	5.27	0.74061	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	L	0.50333	1.59	0.80722	D	1	D;B	0.63046	0.992;0.307	D;B	0.65987	0.94;0.08	T	0.47484	-0.9114	10	0.18710	T	0.47	.	18.9047	0.92455	0.0:0.0:1.0:0.0	.	160;161	P19838;P19838-2	NFKB1_HUMAN;.	T	161;160;169;160	ENSP00000226574:A161T;ENSP00000378297:A160T;ENSP00000424790:A160T	ENSP00000226574:A161T	A	+	1	0	NFKB1	103717144	1.000000	0.71417	0.244000	0.24202	0.968000	0.65278	8.640000	0.91028	2.457000	0.83068	0.462000	0.41574	GCG		0.483	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			4	110	0	0	0	1	0	4	110				
CHRNB4	1143	broad.mit.edu	37	15	78927803	78927803	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:78927803G>A	ENST00000261751.3	-	2	293	c.182C>T	c.(181-183)tCc>tTc	p.S61F	CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.S61F	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	61					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CTGGGCCAGGGAGAGCTGCAG	0.582																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(181-183)tCc>tTc		cholinergic receptor, nicotinic, beta 4 (neuronal)							121.0	113.0	116.0					15																	78927803		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78927803G>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.182C>T	15.37:g.78927803G>A	ENSP00000261751:p.Ser61Phe					CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.S61F	p.S61F	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			2	293	-			61					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.182C>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278752	0.59758	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	T;T	0.77098	-1.07;-1.07	3.98	1.58	0.23477	Neurotransmitter-gated ion-channel ligand-binding (3);	0.151865	0.45361	D	0.000373	D	0.84147	0.5408	M	0.75264	2.295	0.37279	D	0.907746	D;P	0.67145	0.996;0.851	D;P	0.65987	0.94;0.756	D	0.85413	0.1138	10	0.56958	D	0.05	.	10.0048	0.41951	0.2647:0.0:0.7353:0.0	.	61;61	E9PHE8;P30926	.;ACHB4_HUMAN	F	61	ENSP00000261751:S61F;ENSP00000416386:S61F	ENSP00000261751:S61F	S	-	2	0	CHRNB4	76714858	0.656000	0.27385	0.568000	0.28447	0.980000	0.70556	1.943000	0.40253	0.683000	0.31428	0.430000	0.28490	TCC		0.582	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			34	80	0	0	0	1	0	34	80				
CPA5	93979	broad.mit.edu	37	7	130008430	130008430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:130008430C>T	ENST00000485477.1	+	12	2432	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S	CPA5_ENST00000393213.3_Missense_Mutation_p.P435S|CPA5_ENST00000474905.1_Missense_Mutation_p.P435S|CPA5_ENST00000355388.3_Missense_Mutation_p.P435S|CPA5_ENST00000461828.1_Missense_Mutation_p.P435S|CPA5_ENST00000431780.2_3'UTR|CPA5_ENST00000466363.2_Missense_Mutation_p.P435S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	435						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTGAATCACCCCTACTAGCA	0.612																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(1303-1305)Ccc>Tcc		carboxypeptidase A5							138.0	109.0	119.0					7																	130008430		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008430C>T	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1303C>T	7.37:g.130008430C>T	ENSP00000420237:p.Pro435Ser					CPA5_ENST00000431780.2_3'UTR|CPA5_ENST00000393213.3_Missense_Mutation_p.P435S|CPA5_ENST00000355388.3_Missense_Mutation_p.P435S|CPA5_ENST00000466363.2_Missense_Mutation_p.P435S|CPA5_ENST00000461828.1_Missense_Mutation_p.P435S|CPA5_ENST00000474905.1_Missense_Mutation_p.P435S	p.P435S			Q8WXQ8	CBPA5_HUMAN			12	2432	+	Melanoma(18;0.0435)		435					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1303C>T	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350233	0.24512	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213	T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81	5.85	5.85	0.93711	.	0.498355	0.20385	N	0.093363	T	0.28599	0.0708	M	0.81802	2.56	0.33032	D	0.530322	P	0.51653	0.947	P	0.53224	0.721	T	0.34329	-0.9833	9	.	.	.	.	15.5506	0.76148	0.1383:0.8617:0.0:0.0	.	435	Q8WXQ8	CBPA5_HUMAN	S	435	ENSP00000347549:P435S;ENSP00000418183:P435S;ENSP00000419025:P435S;ENSP00000420237:P435S;ENSP00000417314:P435S;ENSP00000376907:P435S	.	P	+	1	0	CPA5	129795666	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	2.681000	0.46926	2.768000	0.95171	0.655000	0.94253	CCC		0.612	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		23	96	0	0	0	1	0	23	96				
VSX1	30813	broad.mit.edu	37	20	25059528	25059528	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:25059528G>A	ENST00000376709.4	-	3	827	c.564C>T	c.(562-564)taC>taT	p.Y188Y	VSX1_ENST00000424574.1_Silent_p.Y188Y|VSX1_ENST00000444511.2_Silent_p.Y188Y|VSX1_ENST00000429762.3_Silent_p.Y188Y|VSX1_ENST00000376707.3_Silent_p.Y188Y|VSX1_ENST00000451258.1_Silent_p.Y188Y	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	188					neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						ACACATCAGGGTAGTGGGCCT	0.552																																						ENST00000376709.4																			0				central_nervous_system(1)|large_intestine(3)|lung(2)	6						c.(562-564)taC>taT		visual system homeobox 1							124.0	124.0	124.0					20																	25059528		2203	4300	6503	SO:0001819	synonymous_variant	30813				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:25059528G>A	AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.564C>T	20.37:g.25059528G>A						VSX1_ENST00000429762.3_Silent_p.Y188Y|VSX1_ENST00000424574.1_Silent_p.Y188Y|VSX1_ENST00000451258.1_Silent_p.Y188Y|VSX1_ENST00000376707.3_Silent_p.Y188Y|VSX1_ENST00000444511.2_Silent_p.Y188Y	p.Y188Y	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN			3	827	-			188					B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	ENST00000376709.4	37	c.564C>T	CCDS13168.1																																																																																				0.552	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3			16	117	0	0	0	1	0	16	117				
PLEKHG5	57449	broad.mit.edu	37	1	6533194	6533194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:6533194G>A	ENST00000400915.3	-	10	1070	c.1004C>T	c.(1003-1005)aCc>aTc	p.T335I	PLEKHG5_ENST00000377748.1_Missense_Mutation_p.T356I|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.T279I|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.T316I|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.T356I|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.T279I|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.T279I|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.T279I|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.T358I|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.T348I|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.T279I|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.T279I	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	335					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGCTGTAGGTGTGCAGCTT	0.632																																						ENST00000377748.1																			0				liver(1)	1						c.(1066-1068)aCc>aTc		pleckstrin homology domain containing, family G (with RhoGef domain) member 5							50.0	57.0	54.0					1																	6533194		2203	4300	6503	SO:0001583	missense	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6533194G>A	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1004C>T	1.37:g.6533194G>A	ENSP00000383706:p.Thr335Ile					PLEKHG5_ENST00000377737.2_Missense_Mutation_p.T279I|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.T279I|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.T279I|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.T279I|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.T279I|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.T335I|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.T358I|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.T356I|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.T348I|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.T279I|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.T316I	p.T356I	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	10	1564	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	335					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.1067C>T	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414538	0.62511	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.23;-0.24;-0.23;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.24	5.24	0.73138	.	0.283213	0.40728	N	0.001034	T	0.61476	0.2350	L	0.39245	1.2	0.34846	D	0.741163	P;B;P;P;B	0.36282	0.454;0.21;0.469;0.546;0.215	B;B;B;B;B	0.38225	0.268;0.156;0.138;0.208;0.075	T	0.69595	-0.5103	10	0.33940	T	0.23	-12.8909	17.4113	0.87486	0.0:0.0:1.0:0.0	.	348;279;356;356;335	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	I	356;279;279;335;356;316;279;279;348;279;185;358;279	ENSP00000366977:T356I;ENSP00000344570:T279I;ENSP00000383704:T279I;ENSP00000383706:T335I;ENSP00000366969:T356I;ENSP00000366961:T316I;ENSP00000366957:T279I;ENSP00000366954:T279I;ENSP00000441445:T348I;ENSP00000366966:T279I;ENSP00000439625:T358I;ENSP00000437710:T279I	ENSP00000344570:T279I	T	-	2	0	PLEKHG5	6455781	1.000000	0.71417	0.916000	0.36221	0.513000	0.34164	4.194000	0.58393	2.468000	0.83385	0.561000	0.74099	ACC		0.632	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		5	18	0	0	0	1	0	5	18				
XPNPEP2	7512	broad.mit.edu	37	X	128890460	128890460	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:128890460C>T	ENST00000371106.3	+	14	1488	c.1296C>T	c.(1294-1296)agC>agT	p.S432S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	432						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCCTTCTCAGCCCGACCAAGG	0.622																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.e14-1		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							126.0	91.0	103.0					X																	128890460		2203	4300	6503	SO:0001630	splice_region_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128890460C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1296-1C>T	X.37:g.128890460C>T							p.S432_splice	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			14	1488	+			432					A0AV16|O75994	Splice_Site	SNP	ENST00000371106.3	37	c.1295_splice	CCDS14613.1																																																																																				0.622	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	Silent	17	44	0	0	0	1	0	17	44				
BCDIN3D	144233	broad.mit.edu	37	12	50236663	50236663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:50236663C>T	ENST00000333924.4	-	1	249	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	70	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						ACGTCGAGCCCCAGAATCGGC	0.627																																						ENST00000333924.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						c.(208-210)Ggg>Agg		BCDIN3 domain containing							58.0	66.0	64.0					12																	50236663		2203	4300	6503	SO:0001583	missense	144233						methyltransferase activity	g.chr12:50236663C>T		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.208G>A	12.37:g.50236663C>T	ENSP00000335201:p.Gly70Arg						p.G70R	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN			1	249	-			70			Bin3-type SAM.		A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	c.208G>A	CCDS8790.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.800457|5.800457	0.96960|0.96960	.|.	.|.	ENSG00000186666|ENSG00000186666	ENST00000333924|ENST00000550861	T|.	0.46451|.	0.87|.	6.08|6.08	5.19|5.19	0.71726|0.71726	Bin3-type S-adenosyl-L-methionine binding domain (1);|.	0.101216|.	0.64402|.	D|.	0.000002|.	T|.	0.66886|.	0.2835|.	M|M	0.64997|0.64997	1.995|1.995	0.31997|0.31997	A|A	0.396193|0.396193	P|.	0.41947|.	0.766|.	B|.	0.37198|.	0.243|.	T|.	0.75830|.	-0.3179|.	9|.	0.54805|0.54805	T|T	0.06|0.06	.|.	13.3008|13.3008	0.60324|0.60324	0.0:0.9239:0.0:0.0761|0.0:0.9239:0.0:0.0761	.|.	70|.	Q7Z5W3|.	BN3D2_HUMAN|.	R|X	70|62	ENSP00000335201:G70R|.	ENSP00000335201:G70R|ENSP00000447796:W62X	G|W	-|-	1|3	0|0	BCDIN3D|BCDIN3D	48522930|48522930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.317000|4.317000	0.59184|0.59184	1.589000|1.589000	0.49982|0.49982	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.627	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		4	99	0	0	0	1	0	4	99				
COL1A1	1277	broad.mit.edu	37	17	48271497	48271497	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:48271497G>A	ENST00000225964.5	-	24	1780	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	554	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TTACAGGGGGGCCAGTTTTGC	0.602			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1660-1662)ggC>ggT		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						49.0	59.0	56.0					17																	48271497		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48271497G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1662C>T	17.37:g.48271497G>A							p.G554G	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			24	1780	-			554			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.1662C>T	CCDS11561.1																																																																																				0.602	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			7	54	0	0	0	1	0	7	54				
TOX4	9878	broad.mit.edu	37	14	21955741	21955741	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21955741G>A	ENST00000405508.1	+	4	483	c.207G>A	c.(205-207)caG>caA	p.Q69Q	TOX4_ENST00000262709.3_Silent_p.Q69Q|TOX4_ENST00000448790.2_Silent_p.Q46Q|TOX4_ENST00000494242.1_3'UTR			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	69						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CCTCTTCACAGGATGGCAGTT	0.547																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(205-207)caG>caA		TOX high mobility group box family member 4							135.0	123.0	127.0					14																	21955741		2203	4300	6503	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21955741G>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.207G>A	14.37:g.21955741G>A						TOX4_ENST00000448790.2_Silent_p.Q46Q|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000262709.3_Silent_p.Q69Q	p.Q69Q			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	4	483	+	all_cancers(95;0.000465)		69					B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.207G>A	CCDS32043.1																																																																																				0.547	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		30	141	0	0	0	1	0	30	141				
DHRS13	147015	broad.mit.edu	37	17	27228138	27228138	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:27228138G>A	ENST00000378895.4	-	4	678	c.552C>T	c.(550-552)gaC>gaT	p.D184D	DHRS13_ENST00000394901.3_Silent_p.D134D|DHRS13_ENST00000581974.1_5'Flank|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000426464.2_Silent_p.D103D|RP11-20B24.4_ENST00000579187.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	184						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCACTGGGCGGTCCAGGCGTT	0.627																																						ENST00000394901.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(400-402)gaC>gaT		dehydrogenase/reductase (SDR family) member 13							61.0	68.0	65.0					17																	27228138		2203	4300	6503	SO:0001819	synonymous_variant	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228138G>A	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.552C>T	17.37:g.27228138G>A						DHRS13_ENST00000426464.2_Silent_p.D103D|DHRS13_ENST00000378895.4_Silent_p.D184D	p.D134D			Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		3	794	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		184					Q96BH7	Silent	SNP	ENST00000378895.4	37	c.402C>T	CCDS11246.2																																																																																				0.627	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		4	92	0	0	0	1	0	4	92				
SMC6	79677	broad.mit.edu	37	2	17913117	17913117	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:17913117C>T	ENST00000448223.2	-	6	641	c.372G>A	c.(370-372)agG>agA	p.R124R	SMC6_ENST00000402989.1_Silent_p.R124R|SMC6_ENST00000351948.4_Silent_p.R124R|SMC6_ENST00000381272.4_Silent_p.R150R	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	124					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTCTGTTCCTCAATGTTA	0.363																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(370-372)agG>agA		structural maintenance of chromosomes 6							125.0	109.0	114.0					2																	17913117		2203	4300	6503	SO:0001819	synonymous_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17913117C>T	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.372G>A	2.37:g.17913117C>T						SMC6_ENST00000381272.4_Silent_p.R150R|SMC6_ENST00000351948.4_Silent_p.R124R|SMC6_ENST00000402989.1_Silent_p.R124R	p.R124R	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			6	641	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		124					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	c.372G>A	CCDS1690.1																																																																																				0.363	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		9	1175	0	0	0	1	0	9	1175				
BRAT1	221927	broad.mit.edu	37	7	2583443	2583443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:2583443G>A	ENST00000340611.4	-	5	840	c.584C>T	c.(583-585)gCc>gTc	p.A195V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	195					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GATCTTCTGGGCACACGCGGG	0.672																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(583-585)gCc>gTc		BRCA1-associated ATM activator 1							55.0	65.0	61.0					7																	2583443		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2583443G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.584C>T	7.37:g.2583443G>A	ENSP00000339637:p.Ala195Val						p.A195V	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			5	840	-			195					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.584C>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000336	0.35320	.	.	ENSG00000106009	ENST00000340611	D	0.91464	-2.85	5.71	3.86	0.44501	Armadillo-type fold (1);	0.316249	0.33419	N	0.004924	D	0.83599	0.5289	L	0.47716	1.5	0.43588	D	0.995931	P;P	0.43169	0.513;0.8	B;B	0.32342	0.103;0.144	T	0.83092	-0.0132	10	0.52906	T	0.07	-31.0619	9.4365	0.38641	0.0758:0.1446:0.7796:0.0	.	195;195	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	V	195	ENSP00000339637:A195V	ENSP00000339637:A195V	A	-	2	0	BRAT1	2549969	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	4.507000	0.60434	1.358000	0.45922	0.655000	0.94253	GCC		0.672	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		13	110	0	0	0	1	0	13	110				
LCMT2	9836	broad.mit.edu	37	15	43620971	43620971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:43620971G>A	ENST00000305641.5	-	1	1832	c.1717C>T	c.(1717-1719)Ctc>Ttc	p.L573F	ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.L152F|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	573					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GACTCCCAGAGGAATCCACAA	0.532																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1717-1719)Ctc>Ttc		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						74.0	77.0	76.0					15																	43620971		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43620971G>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1717C>T	15.37:g.43620971G>A	ENSP00000307214:p.Leu573Phe					LCMT2_ENST00000544735.1_Missense_Mutation_p.L152F|LCMT2_ENST00000567039.1_3'UTR	p.L573F	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1832	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	573					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.1717C>T	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183265	0.38511	.	.	ENSG00000168806	ENST00000305641;ENST00000544735	T;T	0.66638	-0.22;-0.22	5.46	0.916	0.19373	Kelch-type beta propeller (1);	0.476712	0.19675	N	0.108645	T	0.59636	0.2208	L	0.34521	1.04	0.22639	N	0.99891	D	0.67145	0.996	P	0.60609	0.877	T	0.52442	-0.8575	10	0.10111	T	0.7	-29.8252	4.2127	0.10519	0.2538:0.0:0.4696:0.2766	.	573	O60294	LCMT2_HUMAN	F	573;152	ENSP00000307214:L573F;ENSP00000442022:L152F	ENSP00000307214:L573F	L	-	1	0	LCMT2	41408263	0.363000	0.24989	0.998000	0.56505	0.974000	0.67602	0.589000	0.23939	0.298000	0.22638	-0.136000	0.14681	CTC		0.532	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		7	83	0	0	0	1	0	7	83				
FGA	2243	broad.mit.edu	37	4	155506690	155506690	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:155506690C>T	ENST00000302053.3	-	5	1969	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	FGA_ENST00000403106.3_Missense_Mutation_p.G631S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	631	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	gtgtggatacctctgaCAGGG	0.483																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000403106.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1891-1893)Ggt>Agt		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						117.0	106.0	109.0					4																	155506690		2203	4300	6503	SO:0001630	splice_region_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506690C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1891+1G>A	4.37:g.155506690C>T						FGA_ENST00000302053.3_Splice_Site_p.D631_splice	p.G631S	NM_021871.2	NP_068657.1	P02671	FIBA_HUMAN			5	1969	-	all_hematologic(180;0.215)	Renal(120;0.0458)	631			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1891G>A	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.101020|4.101020	0.76983|0.76983	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000302053|ENST00000403106	D|T	0.98028|0.09445	-4.67|2.98	6.02|6.02	5.13|5.13	0.70059|0.70059	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|.	0.084546|.	0.85682|.	D|.	0.000000|.	T|T	0.29093|0.29093	0.0723|0.0723	L|L	0.58969|0.58969	1.84|1.84	0.19945|0.19945	N|N	0.999941|0.999941	P|D	0.41159|0.89917	0.74|1.0	B|D	0.43809|0.83275	0.432|0.996	T|T	0.03394|0.03394	-1.1041|-1.1041	10|9	0.66056|0.40728	D|T	0.02|0.16	.|.	14.0341|14.0341	0.64634|0.64634	0.0:0.8487:0.1513:0.0|0.0:0.8487:0.1513:0.0	.|.	631|631	P02671|P02671-2	FIBA_HUMAN|.	N|S	631|631	ENSP00000306361:D631N|ENSP00000385981:G631S	ENSP00000306361:D631N|ENSP00000385981:G631S	D|G	-|-	1|1	0|0	FGA|FGA	155726140|155726140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	1.472000|1.472000	0.35376|0.35376	2.865000|2.865000	0.98341|0.98341	0.609000|0.609000	0.83330|0.83330	GAC|GGT		0.483	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	Missense_Mutation	7	32	0	0	0	1	0	7	32				
TLK1	9874	broad.mit.edu	37	2	171939303	171939303	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:171939303G>A	ENST00000431350.2	-	3	722	c.318C>T	c.(316-318)gaC>gaT	p.D106D	TLK1_ENST00000521943.1_Silent_p.D58D|TLK1_ENST00000360843.3_Silent_p.D106D|TLK1_ENST00000442919.2_Silent_p.D58D|TLK1_ENST00000486857.1_5'UTR			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	106					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTGATTCTTTGTCACTTAAAG	0.294																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(172-174)gaC>gaT		tousled-like kinase 1							97.0	108.0	104.0					2																	171939303		2202	4295	6497	SO:0001819	synonymous_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171939303G>A	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.318C>T	2.37:g.171939303G>A						TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000431350.2_Silent_p.D106D|TLK1_ENST00000360843.3_Silent_p.D106D|TLK1_ENST00000521943.1_Silent_p.D58D	p.D58D	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			3	789	-			106					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Silent	SNP	ENST00000431350.2	37	c.174C>T	CCDS2241.1																																																																																				0.294	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		5	163	0	0	0	1	0	5	163				
WDR86	349136	broad.mit.edu	37	7	151092993	151092993	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151092993G>A	ENST00000334493.6	-	3	1025	c.595C>T	c.(595-597)Cta>Tta	p.L199L	WDR86_ENST00000469830.2_Silent_p.L199L|WDR86_ENST00000463000.1_5'UTR|WDR86_ENST00000477459.1_Silent_p.L71L	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	199										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTAGCACTAGGCACAGCACT	0.682																																						ENST00000334493.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(595-597)Cta>Tta		WD repeat domain 86							31.0	29.0	30.0					7																	151092993		2197	4289	6486	SO:0001819	synonymous_variant	349136							g.chr7:151092993G>A	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.595C>T	7.37:g.151092993G>A						WDR86_ENST00000463000.1_5'UTR|WDR86_ENST00000469830.2_Silent_p.L199L|WDR86_ENST00000477459.1_Silent_p.L71L	p.L199L	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1025	-			199					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Silent	SNP	ENST00000334493.6	37	c.595C>T	CCDS5925.2																																																																																				0.682	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		5	18	0	0	0	1	0	5	18				
ZSCAN20	7579	broad.mit.edu	37	1	33960258	33960258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:33960258G>A	ENST00000361328.3	+	8	2467	c.2314G>A	c.(2314-2316)Ggg>Agg	p.G772R		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	772					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTTGAATGTGGGAAAAGCTT	0.423																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2314-2316)Ggg>Agg		zinc finger and SCAN domain containing 20							77.0	84.0	82.0					1																	33960258		2138	4264	6402	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960258G>A	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2314G>A	1.37:g.33960258G>A	ENSP00000355053:p.Gly772Arg						p.G772R	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2467	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	772					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2314G>A	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618236	0.87359	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.9	5.9	0.94986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.099246	0.44688	D	0.000425	D	0.84524	0.5491	M	0.86502	2.82	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.80764	0.929;0.994	D	0.86443	0.1768	9	0.87932	D	0	-24.3093	17.7603	0.88462	0.0:0.0:1.0:0.0	.	771;772	P17040-3;P17040	.;ZSC20_HUMAN	R	772;706;706	.	ENSP00000324450:G772R	G	+	1	0	ZSCAN20	33732845	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.966000	0.87956	2.786000	0.95864	0.561000	0.74099	GGG		0.423	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		7	109	0	0	0	1	0	7	109				
RNASEL	6041	broad.mit.edu	37	1	182554496	182554496	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:182554496G>A	ENST00000367559.3	-	2	1699	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	RNASEL_ENST00000444138.1_Silent_p.T482T|RNASEL_ENST00000539397.1_Silent_p.T482T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GATCCTGGTGGGTGTATCCAC	0.408																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(1444-1446)acC>acT		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							133.0	130.0	131.0					1																	182554496		2203	4300	6503	SO:0001819	synonymous_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182554496G>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1446C>T	1.37:g.182554496G>A						RNASEL_ENST00000539397.1_Silent_p.T482T|RNASEL_ENST00000444138.1_Silent_p.T482T	p.T482T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	1699	-			482			Protein kinase.		Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.1446C>T	CCDS1347.1																																																																																				0.408	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		30	56	0	0	0	1	0	30	56				
NCOR2	9612	broad.mit.edu	37	12	124957530	124957530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:124957530C>T	ENST00000405201.1	-	4	559	c.559G>A	c.(559-561)Gag>Aag	p.E187K	NCOR2_ENST00000404621.1_Missense_Mutation_p.E187K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E187K|NCOR2_ENST00000356219.3_Missense_Mutation_p.E187K|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.E187K			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	187					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)			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)		ATCTGCTGCTCTACCATGGTG	0.587																																						ENST00000356219.3																			0				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						c.(559-561)Gag>Aag		nuclear receptor corepressor 2							219.0	233.0	228.0					12																	124957530		2080	4220	6300	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124957530C>T	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.559G>A	12.37:g.124957530C>T	ENSP00000384018:p.Glu187Lys					NCOR2_ENST00000429285.2_Missense_Mutation_p.E187K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E187K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E187K|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.E187K	p.E187K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		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)	5	714	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		187					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.559G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709627	0.68730	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.85130	0.985;0.985;0.997	T	0.68303	-0.5444	10	0.87932	D	0	-32.6411	18.8572	0.92257	0.0:1.0:0.0:0.0	.	187;187;187	C9J0Q5;C9J239;C9JFD3	.;.;.	K	187;187;187;187;187;187;187;187;108	ENSP00000384018:E187K;ENSP00000384202:E187K;ENSP00000348551:E187K;ENSP00000380513:E187K;ENSP00000400281:E187K;ENSP00000402808:E187K;ENSP00000405367:E187K;ENSP00000403034:E108K	ENSP00000348551:E187K	E	-	1	0	NCOR2	123523483	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.688000	0.84153	2.456000	0.83038	0.561000	0.74099	GAG		0.587	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		4	150	0	0	0	1	0	4	150				
TBL1X	6907	broad.mit.edu	37	X	9656061	9656061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:9656061G>A	ENST00000217964.7	+	7	1002	c.362G>A	c.(361-363)gGc>gAc	p.G121D	TBL1X_ENST00000536365.1_Missense_Mutation_p.G70D|TBL1X_ENST00000380961.1_Missense_Mutation_p.G70D|TBL1X_ENST00000407597.2_Missense_Mutation_p.G121D|TBL1X_ENST00000424279.1_Missense_Mutation_p.G70D	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	121	F-box-like.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCCCAGGATGGCACAGTGTTC	0.632																																						ENST00000217964.7																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20						c.(361-363)gGc>gAc		transducin (beta)-like 1X-linked							45.0	41.0	43.0					X																	9656061		2203	4300	6503	SO:0001583	missense	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9656061G>A	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.362G>A	X.37:g.9656061G>A	ENSP00000217964:p.Gly121Asp					TBL1X_ENST00000424279.1_Missense_Mutation_p.G70D|TBL1X_ENST00000536365.1_Missense_Mutation_p.G70D|TBL1X_ENST00000407597.2_Missense_Mutation_p.G121D|TBL1X_ENST00000380961.1_Missense_Mutation_p.G70D	p.G121D	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN			7	1002	+		Hepatocellular(5;0.000888)	121			F-box-like.		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	c.362G>A	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035176	0.93575	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000415293;ENST00000217964	T;T;T;T;T	0.58506	0.33;0.48;0.48;0.48;0.33	4.89	4.89	0.63831	.	0.056343	0.64402	N	0.000001	T	0.73225	0.3560	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68943	0.961;0.961	T	0.73075	-0.4097	10	0.36615	T	0.2	.	17.4367	0.87554	0.0:0.0:1.0:0.0	.	84;121	Q59F53;O60907	.;TBL1X_HUMAN	D	121;70;70;70;70;121	ENSP00000385988:G121D;ENSP00000394097:G70D;ENSP00000445317:G70D;ENSP00000370348:G70D;ENSP00000217964:G121D	ENSP00000217964:G121D	G	+	2	0	TBL1X	9616061	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.291000	0.78721	2.044000	0.60594	0.529000	0.55759	GGC		0.632	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		19	29	0	0	0	1	0	19	29				
IRX5	10265	broad.mit.edu	37	16	54966798	54966798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:54966798C>T	ENST00000394636.4	+	2	975	c.638C>T	c.(637-639)cCc>cTc	p.P213L	IRX5_ENST00000320990.5_Missense_Mutation_p.P213L|IRX5_ENST00000558597.1_Missense_Mutation_p.P147L|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	213					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						AAGGGCGACCCCGAGGGCCCC	0.652																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(637-639)cCc>cTc		iroquois homeobox 5							65.0	83.0	77.0					16																	54966798		2198	4300	6498	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966798C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.638C>T	16.37:g.54966798C>T	ENSP00000378132:p.Pro213Leu					IRX5_ENST00000558597.1_Missense_Mutation_p.P147L|IRX5_ENST00000320990.5_Missense_Mutation_p.P213L|IRX5_ENST00000560154.1_Intron	p.P213L			P78411	IRX5_HUMAN			2	975	+			213					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.638C>T	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	C	3.094	-0.186202	0.06340	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.58060	0.38;0.36	4.14	-1.35	0.09114	.	1.190180	0.06065	N	0.659125	T	0.21801	0.0525	N	0.02011	-0.69	0.25963	N	0.982606	B	0.02656	0.0	B	0.01281	0.0	T	0.12708	-1.0537	10	0.25751	T	0.34	-0.3635	3.3736	0.07229	0.2847:0.3803:0.0:0.335	.	213	P78411	IRX5_HUMAN	L	213	ENSP00000378132:P213L;ENSP00000316250:P213L	ENSP00000316250:P213L	P	+	2	0	IRX5	53524299	0.238000	0.23825	0.778000	0.31720	0.564000	0.35744	1.177000	0.31969	-0.117000	0.11872	0.655000	0.94253	CCC		0.652	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			11	131	0	0	0	1	0	11	131				
REST	5978	broad.mit.edu	37	4	57796575	57796575	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:57796575G>A	ENST00000309042.7	+	4	1865	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	517	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTAAAACTAAGAAAAGCAAAA	0.378																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1549-1551)aaG>aaA		RE1-silencing transcription factor							67.0	70.0	69.0					4																	57796575		2203	4300	6503	SO:0001819	synonymous_variant	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796575G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1551G>A	4.37:g.57796575G>A							p.K517K	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	1865	+	Glioma(25;0.08)|all_neural(26;0.181)		517			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	c.1551G>A	CCDS3509.1																																																																																				0.378	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		5	47	0	0	0	1	0	5	47				
POLE4	56655	broad.mit.edu	37	2	75186533	75186533	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:75186533C>T	ENST00000483063.1	+	2	467	c.279C>T	c.(277-279)acC>acT	p.T93T	POLE4_ENST00000459636.1_3'UTR	NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN	polymerase (DNA-directed), epsilon 4, accessory subunit	93					DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			lung(1)	1					Cladribine(DB00242)	AAAGGAAAACCCTTCAGAGGA	0.498																																						ENST00000483063.1																			0				lung(1)	1						c.(277-279)acC>acT		polymerase (DNA-directed), epsilon 4, accessory subunit							81.0	80.0	80.0					2																	75186533		2203	4300	6503	SO:0001819	synonymous_variant	56655				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding	g.chr2:75186533C>T	AF261688	CCDS1957.1	2p12	2012-05-18	2012-05-18		ENSG00000115350	ENSG00000115350		"""DNA polymerases"""	18755	protein-coding gene	gene with protein product		607269	"""polymerase (DNA-directed), epsilon 4 (p12 subunit)"""			10801849	Standard	NM_019896		Approved	p12	uc002snf.3	Q9NR33	OTTHUMG00000129971	ENST00000483063.1:c.279C>T	2.37:g.75186533C>T						POLE4_ENST00000459636.1_3'UTR	p.T93T	NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN			2	467	+			93					Q53TR2	Silent	SNP	ENST00000483063.1	37	c.279C>T	CCDS1957.1																																																																																				0.498	POLE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252237.2	NM_019896		3	43	0	0	0	1	0	3	43				
USP11	8237	broad.mit.edu	37	X	47098766	47098766	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:47098766C>T	ENST00000218348.3	+	3	432	c.432C>T	c.(430-432)cgC>cgT	p.R144R	USP11_ENST00000377107.2_Silent_p.R101R	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	144	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TAAACTGGCGCCTCAAGGAGG	0.572																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(301-303)cgC>cgT		ubiquitin specific peptidase 11							43.0	35.0	38.0					X																	47098766		2203	4300	6503	SO:0001819	synonymous_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47098766C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.432C>T	X.37:g.47098766C>T						USP11_ENST00000218348.3_Silent_p.R144R	p.R101R			P51784	UBP11_HUMAN			3	657	+			144			DUSP.		B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	c.303C>T	CCDS14277.1																																																																																				0.572	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		5	13	0	0	0	1	0	5	13				
SYNE1	23345	broad.mit.edu	37	6	152755067	152755067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:152755067C>T	ENST00000367255.5	-	34	4925	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K	SYNE1_ENST00000367253.4_Missense_Mutation_p.E1442K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1449K|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1449K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1512K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1442K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1442					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)			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)		TTCACCATTTCCATGGTTTTA	0.333										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(4324-4326)Gaa>Aaa		spectrin repeat containing, nuclear envelope 1							65.0	63.0	64.0					6																	152755067		2203	4299	6502	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152755067C>T	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.4324G>A	6.37:g.152755067C>T	ENSP00000356224:p.Glu1442Lys	HNSCC(10;0.0054)				SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1512K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1449K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1442K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1442K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1449K	p.E1442K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	34	4925	-		Ovarian(120;0.0955)	1442					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4324G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394982	0.62066	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.59638	1.06;1.06;1.06;1.06;0.25;1.06	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000011	T	0.72708	0.3494	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.992;1.0;0.992;0.99	D;P;D;P;P	0.85130	0.994;0.835;0.997;0.835;0.892	T	0.73100	-0.4089	10	0.56958	D	0.05	.	19.8167	0.96571	0.0:1.0:0.0:0.0	.	1425;1442;1442;1442;1449	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	1442;1449;1442;1449;1512;1442	ENSP00000356224:E1442K;ENSP00000396024:E1449K;ENSP00000265368:E1442K;ENSP00000390975:E1449K;ENSP00000341887:E1512K;ENSP00000356222:E1442K	ENSP00000265368:E1442K	E	-	1	0	SYNE1	152796760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.820000	0.75267	2.671000	0.90904	0.591000	0.81541	GAA		0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		20	30	0	0	0	1	0	20	30				
DNAH11	8701	broad.mit.edu	37	7	21788209	21788209	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:21788209G>A	ENST00000409508.3	+	52	8553	c.8522G>A	c.(8521-8523)aGc>aAc	p.S2841N	DNAH11_ENST00000328843.6_Missense_Mutation_p.S2848N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2848	AAA 4. {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)			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						TGTCGCATCAGCCGGATCTTA	0.502									Kartagener syndrome																													ENST00000328843.6																			0				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						c.(8542-8544)aGc>aAc		dynein, axonemal, heavy chain 11							52.0	53.0	52.0					7																	21788209		1927	4136	6063	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21788209G>A	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.8522G>A	7.37:g.21788209G>A	ENSP00000475939:p.Ser2841Asn					DNAH11_ENST00000409508.3_Missense_Mutation_p.S2841N	p.S2848N			Q96DT5	DYH11_HUMAN			53	8574	+			2848			AAA 4 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8543G>A		.	.	.	.	.	.	.	.	.	.	G	1.023	-0.684314	0.03353	.	.	ENSG00000105877	ENST00000328843	T	0.39592	1.07	5.7	4.77	0.60923	Dynein heavy chain, P-loop containing D4 domain (1);	0.037655	0.85682	D	0.000000	T	0.33702	0.0872	.	.	.	0.50632	D	0.999889	P	0.35363	0.497	B	0.41894	0.369	T	0.03555	-1.1025	9	0.07990	T	0.79	.	15.4893	0.75593	0.0:0.0:0.8609:0.139	.	2848	Q96DT5	DYH11_HUMAN	N	2848	ENSP00000330671:S2848N	ENSP00000330671:S2848N	S	+	2	0	DNAH11	21754734	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	3.947000	0.56652	2.705000	0.92388	0.650000	0.86243	AGC		0.502	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	56	0	0	0	1	0	10	56				
TTC37	9652	broad.mit.edu	37	5	94845348	94845348	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:94845348G>A	ENST00000358746.2	-	29	3262	c.2964C>T	c.(2962-2964)taC>taT	p.Y988Y	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	988						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTTCGTTTAAGTAACCCAACA	0.348																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(2962-2964)taC>taT		tetratricopeptide repeat domain 37							109.0	105.0	106.0					5																	94845348		2203	4300	6503	SO:0001819	synonymous_variant	9652						binding	g.chr5:94845348G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2964C>T	5.37:g.94845348G>A						TTC37_ENST00000515176.1_5'UTR	p.Y988Y	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			29	3262	-			988					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.2964C>T	CCDS4072.1																																																																																				0.348	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		10	28	0	0	0	1	0	10	28				
JMJD4	65094	broad.mit.edu	37	1	227920725	227920725	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:227920725C>T	ENST00000366758.3	-	5	963	c.964G>A	c.(964-966)Gac>Aac	p.D322N	SNAP47_ENST00000315781.5_5'Flank|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000485807.1_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.D322N|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	322	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GAGATGGTGTCATCCTGGAAG	0.622																																						ENST00000366758.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(964-966)Gac>Aac		jumonji domain containing 4							76.0	66.0	69.0					1																	227920725		2203	4300	6503	SO:0001583	missense	65094							g.chr1:227920725C>T	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.964G>A	1.37:g.227920725C>T	ENSP00000355720:p.Asp322Asn					JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.D322N|SNAP47_ENST00000480897.1_3'UTR	p.D322N	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN			5	963	-		Prostate(94;0.0885)	322			JmjC.		Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.964G>A	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.8|26.8	4.774440|4.774440	0.90108|0.90108	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.72505|.	-0.66|.	4.96|4.96	4.05|4.05	0.47172|0.47172	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);|.	0.050177|.	0.85682|.	N|.	0.000000|.	T|T	0.74458|0.74458	0.3719|0.3719	M|M	0.83852|0.83852	2.665|2.665	0.80722|0.80722	D|D	1|1	P;D|.	0.60575|.	0.929;0.988|.	P;D|.	0.67900|.	0.834;0.954|.	T|T	0.76135|0.76135	-0.3070|-0.3070	10|5	0.56958|.	D|.	0.05|.	-43.8649|-43.8649	10.8561|10.8561	0.46800|0.46800	0.0:0.9085:0.0:0.0915|0.0:0.9085:0.0:0.0915	.|.	322;322|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	N|I	322|314	ENSP00000355720:D322N|.	ENSP00000355720:D322N|.	D|M	-|-	1|3	0|0	JMJD4|JMJD4	225987348|225987348	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.913000|0.913000	0.54294|0.54294	6.717000|6.717000	0.74707|0.74707	1.301000|1.301000	0.44836|0.44836	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.622	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		4	19	0	0	0	1	0	4	19				
RPS7	6201	broad.mit.edu	37	2	3623248	3623248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:3623248G>A	ENST00000304921.5	+	2	213	c.49G>A	c.(49-51)Gac>Aac	p.D17N	RPS7_ENST00000406376.1_Missense_Mutation_p.D17N|RPS7_ENST00000403564.1_Missense_Mutation_p.D17N|RPS7_ENST00000407445.3_Missense_Mutation_p.D17N	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	17					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CGAGAAGCCGGACGAGTTCGA	0.672																																						ENST00000407445.3																			0				endometrium(1)|lung(2)|urinary_tract(1)	4						c.(49-51)Gac>Aac		ribosomal protein S7							29.0	34.0	33.0					2																	3623248		2202	4299	6501	SO:0001583	missense	6201				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:3623248G>A		CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"""S ribosomal proteins"""	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.49G>A	2.37:g.3623248G>A	ENSP00000339095:p.Asp17Asn					RPS7_ENST00000304921.5_Missense_Mutation_p.D17N|RPS7_ENST00000406376.1_Missense_Mutation_p.D17N|RPS7_ENST00000403564.1_Missense_Mutation_p.D17N	p.D17N			P62081	RS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)	2	96	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		17					P23821|P24818|Q57Z92|Q6IPH1	Missense_Mutation	SNP	ENST00000304921.5	37	c.49G>A	CCDS1648.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994597	0.74703	.	.	ENSG00000171863	ENST00000304921;ENST00000407445;ENST00000403564;ENST00000406376	.	.	.	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.79343	2.45	0.80722	D	1	B;B	0.24675	0.109;0.006	B;B	0.37451	0.25;0.108	T	0.74813	-0.3537	9	0.48119	T	0.1	-9.7097	15.2099	0.73214	0.0:0.0:1.0:0.0	.	17;17	B5MCP9;P62081	.;RS7_HUMAN	N	17	.	ENSP00000339095:D17N	D	+	1	0	RPS7	3601123	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	9.143000	0.94623	2.108000	0.64289	0.467000	0.42956	GAC		0.672	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206667.1	NM_001011		17	38	0	0	0	1	0	17	38				
NKX3-1	4824	broad.mit.edu	37	8	23538860	23538860	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:23538860C>T	ENST00000380871.4	-	2	616	c.579G>A	c.(577-579)aaG>aaA	p.K193K	NKX3-1_ENST00000523261.1_Silent_p.K118K	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|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)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AAGAGGAGTGCTTCTCCAAGT	0.547																																						ENST00000380871.4																			0				large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(577-579)aaG>aaA		NK3 homeobox 1							110.0	110.0	110.0					8																	23538860		2203	4300	6503	SO:0001819	synonymous_variant	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23538860C>T		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.579G>A	8.37:g.23538860C>T						NKX3-1_ENST00000523261.1_Silent_p.K118K	p.K193K	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	616	-		Prostate(55;0.114)	193					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Silent	SNP	ENST00000380871.4	37	c.579G>A	CCDS6042.1																																																																																				0.547	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			11	100	0	0	0	1	0	11	100				
ANKHD1	54882	broad.mit.edu	37	5	139838904	139838904	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139838904G>A	ENST00000360839.2	+	9	1790	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	ANKHD1_ENST00000394722.3_Missense_Mutation_p.G535R|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G546R|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G546R|ANKHD1_ENST00000394723.3_Missense_Mutation_p.G546R	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	546						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTCAGGAGGGACACCTGGA	0.418																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(1636-1638)Gga>Aga		ankyrin repeat and KH domain containing 1							95.0	95.0	95.0					5																	139838904		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139838904G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1636G>A	5.37:g.139838904G>A	ENSP00000354085:p.Gly546Arg					ANKHD1_ENST00000360839.2_Missense_Mutation_p.G546R|ANKHD1_ENST00000394723.3_Missense_Mutation_p.G546R|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G546R|ANKHD1_ENST00000394722.3_Missense_Mutation_p.G535R	p.G546R	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1760	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.1636G>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254874	0.95336	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	T;T;T;T;T;T	0.73258	-0.69;-0.69;-0.73;-0.73;-0.73;-0.69	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.86134	0.5860	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;0.999;1.0	D	0.87682	0.2548	10	0.87932	D	0	.	19.4165	0.94703	0.0:0.0:1.0:0.0	.	546;546;546;546;546;535;546	Q8IWZ3-5;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;.;.;ANKH1_HUMAN;.;.	R	546;560;546;546;61;7;546;546;535;546	ENSP00000354085:G546R;ENSP00000297183:G546R;ENSP00000394489:G546R;ENSP00000378212:G546R;ENSP00000378211:G535R;ENSP00000432016:G546R	ENSP00000432016:G546R	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139819088	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.623000	0.98386	2.604000	0.88044	0.555000	0.69702	GGA		0.418	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		18	48	0	0	0	1	0	18	48				
CBL	867	broad.mit.edu	37	11	119167699	119167699	+	Missense_Mutation	SNP	C	C	T	rs368798262		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:119167699C>T	ENST00000264033.4	+	13	2484	c.2108C>T	c.(2107-2109)cCc>cTc	p.P703L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	703	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TACATGACTCCCTCTTCCAGG	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(2107-2109)cCc>cTc		Cbl proto-oncogene, E3 ubiquitin protein ligase		C	LEU/PRO	0,4398		0,0,2199	71.0	69.0	70.0		2108	5.3	1.0	11		70	1,8589	1.2+/-3.3	0,1,4294	no	missense	CBL	NM_005188.2	98	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	703/907	119167699	1,12987	2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119167699C>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2108C>T	11.37:g.119167699C>T	ENSP00000264033:p.Pro703Leu						p.P703L	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	13	2484	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	703			Asp/Glu-rich (acidic).|Interaction with CD2AP.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.2108C>T	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908791	0.72868	0.0	1.16E-4	ENSG00000110395	ENST00000264033	D	0.85171	-1.95	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90349	0.4365	10	0.87932	D	0	-21.0832	17.2164	0.86945	0.0:1.0:0.0:0.0	.	703	P22681	CBL_HUMAN	L	703	ENSP00000264033:P703L	ENSP00000264033:P703L	P	+	2	0	CBL	118672909	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	6.863000	0.75489	2.485000	0.83878	0.557000	0.71058	CCC		0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		5	92	0	0	0	1	0	5	92				
LRRC8B	23507	broad.mit.edu	37	1	90058536	90058536	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:90058536G>A	ENST00000330947.2	+	6	2706	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	LRRC8B_ENST00000358200.4_Silent_p.E782E|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.E782E	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	782					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTGTTGAGGAGAACTTGCTCA	0.413																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(2344-2346)gaG>gaA		leucine rich repeat containing 8 family, member B							153.0	139.0	144.0					1																	90058536		2203	4300	6503	SO:0001819	synonymous_variant	23507					integral to membrane		g.chr1:90058536G>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2346G>A	1.37:g.90058536G>A						RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.E782E|LRRC8B_ENST00000439853.1_Silent_p.E782E	p.E782E	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	2706	+		all_lung(203;0.17)	782					D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	c.2346G>A	CCDS724.1																																																																																				0.413	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		38	64	0	0	0	1	0	38	64				
EVI2A	2123	broad.mit.edu	37	17	29645502	29645502	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:29645502G>A	ENST00000462804.2	-	2	929	c.530C>T	c.(529-531)cCt>cTt	p.P177L	CTD-2370N5.3_ENST00000578584.1_Silent_p.A116A|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.P177L|EVI2A_ENST00000247270.3_Missense_Mutation_p.P200L|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	177					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		ATTGCTTCTAGGCTGACGCTT	0.443																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(598-600)cCt>cTt		ecotropic viral integration site 2A							89.0	79.0	82.0					17																	29645502		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645502G>A	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.530C>T	17.37:g.29645502G>A	ENSP00000420557:p.Pro177Leu					NF1_ENST00000581113.2_3'UTR|CTD-2370N5.3_ENST00000578584.1_Silent_p.A116A|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.P177L|EVI2A_ENST00000461237.1_Missense_Mutation_p.P177L	p.P200L	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	935	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	177					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.599C>T	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737572	0.89482	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.71	5.71	0.89125	.	0.164918	0.42821	D	0.000654	T	0.77942	0.4206	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.967	T	0.78831	-0.2049	9	0.72032	D	0.01	.	18.8387	0.92172	0.0:0.0:1.0:0.0	.	177;200	P22794;P22794-2	EVI2A_HUMAN;.	L	177;173;177;200	.	ENSP00000247270:P200L	P	-	2	0	EVI2A	26669628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.732000	0.62029	2.688000	0.91661	0.655000	0.94253	CCT		0.443	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		21	36	0	0	0	1	0	21	36				
TSPAN9	10867	broad.mit.edu	37	12	3387725	3387725	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:3387725G>A	ENST00000011898.5	+	4	363	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	TSPAN9_ENST00000407263.1_Missense_Mutation_p.G68S|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.G68S	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	68						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CATGGTGACGGGCTTCCTCGG	0.577																																						ENST00000011898.5																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(202-204)Ggc>Agc		tetraspanin 9							124.0	112.0	116.0					12																	3387725		2203	4300	6503	SO:0001583	missense	10867					integral to plasma membrane|membrane fraction		g.chr12:3387725G>A	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.202G>A	12.37:g.3387725G>A	ENSP00000011898:p.Gly68Ser					TSPAN9_ENST00000537971.1_Missense_Mutation_p.G68S|TSPAN9_ENST00000407263.1_Missense_Mutation_p.G68S|TSPAN9_ENST00000492305.1_3'UTR	p.G68S	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		4	363	+			68					D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	c.202G>A	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553255	0.86127	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.79033	-1.23;-1.23;-1.23	4.98	4.98	0.66077	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85349	0.5676	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84444	0.0584	10	0.37606	T	0.19	.	15.7621	0.78091	0.0:0.0:1.0:0.0	.	68	O75954	TSN9_HUMAN	S	68	ENSP00000444799:G68S;ENSP00000011898:G68S;ENSP00000384488:G68S	ENSP00000011898:G68S	G	+	1	0	TSPAN9	3257986	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.024000	0.88770	2.314000	0.78098	0.561000	0.74099	GGC		0.577	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		4	91	0	0	0	1	0	4	91				
PRKRA	8575	broad.mit.edu	37	2	179308015	179308015	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179308015G>A	ENST00000325748.4	-	5	693	c.493C>T	c.(493-495)Cta>Tta	p.L165L	PRKRA_ENST00000470200.1_5'Flank|PRKRA_ENST00000432031.2_Silent_p.L154L|PRKRA_ENST00000487082.1_Silent_p.L140L|PRKRA_ENST00000438687.3_Silent_p.L52L	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	165	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AATGACTCTAGCCTGCAAATT	0.363																																					Melanoma(200;68 3001 23825 48764)	ENST00000325748.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(493-495)Cta>Tta		protein kinase, interferon-inducible double stranded RNA dependent activator							76.0	78.0	77.0					2																	179308015		2203	4300	6503	SO:0001819	synonymous_variant	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179308015G>A	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.493C>T	2.37:g.179308015G>A						PRKRA_ENST00000432031.2_Silent_p.L154L|PRKRA_ENST00000487082.1_Silent_p.L140L|PRKRA_ENST00000438687.3_Silent_p.L52L	p.L165L	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		5	693	-			165			DRBM 2.|Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Silent	SNP	ENST00000325748.4	37	c.493C>T	CCDS2279.1																																																																																				0.363	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		21	54	0	0	0	1	0	21	54				
ALS2CL	259173	broad.mit.edu	37	3	46718412	46718412	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:46718412C>T	ENST00000318962.4	-	17	1941	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	ALS2CL_ENST00000415953.1_Missense_Mutation_p.E620K|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	620					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCAGGGCCTCCTGCAGGTCC	0.657																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1858-1860)Gag>Aag		ALS2 C-terminal like							58.0	67.0	64.0					3																	46718412		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46718412C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1858G>A	3.37:g.46718412C>T	ENSP00000313670:p.Glu620Lys					ALS2CL_ENST00000415953.1_Missense_Mutation_p.E620K|ALS2CL_ENST00000383742.3_5'UTR	p.E620K	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	17	1941	-			620					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1858G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399484	0.83120	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.54071	0.59;0.59	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000011	T	0.64068	0.2565	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.61182	-0.7114	10	0.02654	T	1	.	15.0706	0.72034	0.0:1.0:0.0:0.0	.	620	Q60I27	AL2CL_HUMAN	K	620	ENSP00000313670:E620K;ENSP00000413223:E620K	ENSP00000313670:E620K	E	-	1	0	ALS2CL	46693416	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.170000	0.64990	2.435000	0.82474	0.561000	0.74099	GAG		0.657	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		27	56	0	0	0	1	0	27	56				
ZBTB11	27107	broad.mit.edu	37	3	101371480	101371480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:101371480G>A	ENST00000312938.4	-	10	3084	c.2504C>T	c.(2503-2505)gCt>gTt	p.A835V		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	835					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGAACAAAGCTTTTTCATA	0.373																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2503-2505)gCt>gTt		zinc finger and BTB domain containing 11							105.0	108.0	107.0					3																	101371480		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101371480G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2504C>T	3.37:g.101371480G>A	ENSP00000326200:p.Ala835Val						p.A835V	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			10	3084	-			835					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2504C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184838	0.94885	.	.	ENSG00000066422	ENST00000312938	T	0.51574	0.7	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056069	0.64402	D	0.000001	T	0.53045	0.1772	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.58736	-0.7584	10	0.62326	D	0.03	-17.3556	18.9875	0.92777	0.0:0.0:1.0:0.0	.	835	O95625	ZBT11_HUMAN	V	835	ENSP00000326200:A835V	ENSP00000326200:A835V	A	-	2	0	ZBTB11	102854170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.532000	0.85374	0.650000	0.86243	GCT		0.373	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		5	109	0	0	0	1	0	5	109				
FEM1A	55527	broad.mit.edu	37	19	4793580	4793580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:4793580G>A	ENST00000269856.3	+	1	1853	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	572					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGACTGCGGGGCCGACCCGGA	0.607																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1714-1716)Gcc>Acc		fem-1 homolog a (C. elegans)							57.0	55.0	56.0					19																	4793580		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793580G>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1714G>A	19.37:g.4793580G>A	ENSP00000269856:p.Ala572Thr					AC005523.2_ENST00000601192.1_RNA	p.A572T	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1853	+		Hepatocellular(1079;0.137)	572					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1714G>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920296	0.73098	.	.	ENSG00000141965	ENST00000269856	T	0.76968	-1.06	4.92	4.92	0.64577	Ankyrin repeat-containing domain (4);	0.000000	0.64402	U	0.000001	D	0.89466	0.6723	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91403	0.5145	10	0.87932	D	0	-11.842	18.1288	0.89595	0.0:0.0:1.0:0.0	.	572	Q9BSK4	FEM1A_HUMAN	T	572	ENSP00000269856:A572T	ENSP00000269856:A572T	A	+	1	0	FEM1A	4744580	1.000000	0.71417	0.983000	0.44433	0.434000	0.31775	9.634000	0.98435	2.264000	0.75181	0.491000	0.48974	GCC		0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			20	27	0	0	0	1	0	20	27				
C17orf104	284071	broad.mit.edu	37	17	42744897	42744897	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:42744897C>T	ENST00000409122.2	+	5	1760	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	C17orf104_ENST00000359945.3_Missense_Mutation_p.P540S|C17orf104_ENST00000409464.1_Missense_Mutation_p.P374S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	540										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CCAAGAAAACCCTTCAGCATT	0.358																																						ENST00000409122.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						c.(1618-1620)Cct>Tct		chromosome 17 open reading frame 104							42.0	46.0	45.0					17																	42744897		2173	4280	6453	SO:0001583	missense	284071							g.chr17:42744897C>T		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1618C>T	17.37:g.42744897C>T	ENSP00000386452:p.Pro540Ser					C17orf104_ENST00000409464.1_Missense_Mutation_p.P374S|C17orf104_ENST00000359945.3_Missense_Mutation_p.P540S	p.P540S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN			5	1760	+			540					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	c.1618C>T	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424292	0.25639	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.30182	1.54;1.54;1.56	5.66	3.69	0.42338	.	0.161451	0.43919	D	0.000505	T	0.15782	0.0380	N	0.22421	0.69	0.35324	D	0.785023	B;B;B	0.18310	0.027;0.001;0.003	B;B;B	0.15052	0.012;0.009;0.012	T	0.16335	-1.0406	10	0.13108	T	0.6	-21.8719	4.8959	0.13749	0.25:0.5401:0.0:0.2099	.	540;540;374	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	S	540;540;374	ENSP00000353028:P540S;ENSP00000386452:P540S;ENSP00000386586:P374S	ENSP00000353028:P540S	P	+	1	0	C17orf104	40100423	0.364000	0.24997	1.000000	0.80357	0.999000	0.98932	0.047000	0.14056	0.757000	0.33036	0.655000	0.94253	CCT		0.358	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		3	38	0	0	0	1	0	3	38				
MPHOSPH9	10198	broad.mit.edu	37	12	123678935	123678935	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123678935C>T	ENST00000606320.1	-	13	2445	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D595N|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D595N|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D717N			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	747						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTACTTACATCTTGAAACATT	0.299																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2239-2241)Gat>Aat		M-phase phosphoprotein 9							159.0	143.0	149.0					12																	123678935		2202	4298	6500	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123678935C>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2239G>A	12.37:g.123678935C>T	ENSP00000475489:p.Asp747Asn					MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D717N|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D595N|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D595N	p.D747N			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	13	2445	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		595					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2239G>A		.	.	.	.	.	.	.	.	.	.	C	11.35	1.611957	0.28712	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.79033	-1.23;-1.23	5.39	4.49	0.54785	.	0.376195	0.25238	N	0.032103	T	0.60907	0.2305	L	0.35487	1.065	0.38529	D	0.948937	B	0.18013	0.025	B	0.23574	0.047	T	0.53676	-0.8405	10	0.08599	T	0.76	-21.867	5.0625	0.14564	0.0:0.7157:0.0:0.2843	.	595	Q99550	MPP9_HUMAN	N	595	ENSP00000303597:D595N;ENSP00000445859:D595N	ENSP00000303597:D595N	D	-	1	0	MPHOSPH9	122244888	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.648000	0.37271	2.537000	0.85549	0.655000	0.94253	GAT		0.299	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			6	41	0	0	0	1	0	6	41				
EPPK1	83481	broad.mit.edu	37	8	144940705	144940705	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:144940705G>A	ENST00000525985.1	-	2	6788	c.6717C>T	c.(6715-6717)cgC>cgT	p.R2239R				P58107	EPIPL_HUMAN	epiplakin 1	2239						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTTCTCCTGGCGGCCGGGCT	0.701																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6715-6717)cgC>cgT		epiplakin 1							61.0	61.0	61.0					8																	144940705		2175	4243	6418	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940705G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6717C>T	8.37:g.144940705G>A							p.R2239R			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6788	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2239					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6717C>T																																																																																					0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	138	0	0	0	1	0	5	138				
ZNF550	162972	broad.mit.edu	37	19	58058515	58058515	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58058515G>A	ENST00000457177.1	-	4	1277	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	ZNF550_ENST00000325134.5_Missense_Mutation_p.T334I|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.T325I			Q7Z398	ZN550_HUMAN	zinc finger protein 550	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCTCCCCAGTGTGAATCCG	0.527																																						ENST00000325134.5																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(1000-1002)aCt>aTt		zinc finger protein 550							109.0	89.0	96.0					19																	58058515		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58058515G>A	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.1097C>T	19.37:g.58058515G>A	ENSP00000469679:p.Thr366Ile					ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.T366I|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.T325I	p.T334I			Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1157	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	366					B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.1001C>T		.	.	.	.	.	.	.	.	.	.	G	18.19	3.569437	0.65765	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.25749	1.78;1.78	3.35	3.35	0.38373	.	.	.	.	.	T	0.48909	0.1526	M	0.69523	2.12	0.27714	N	0.945356	D	0.89917	1.0	D	0.76071	0.987	T	0.34453	-0.9828	9	0.87932	D	0	.	12.5702	0.56332	0.0:0.0:1.0:0.0	.	334	Q7Z398-2	.	I	366;334;325	ENSP00000446224:T334I;ENSP00000422344:T325I	ENSP00000446224:T334I	T	-	2	0	AC003682.1	62750327	0.943000	0.32029	0.943000	0.38184	0.998000	0.95712	1.415000	0.34748	1.868000	0.54150	0.655000	0.94253	ACT		0.527	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		6	73	0	0	0	1	0	6	73				
GLA	2717	broad.mit.edu	37	X	100652904	100652904	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100652904C>T	ENST00000218516.3	-	7	1204	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	395					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TCATAGAACCCTAGCTTCCTT	0.448																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(1183-1185)Ggg>Agg		galactosidase, alpha	Agalsidase beta(DB00103)						91.0	85.0	87.0					X																	100652904		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100652904C>T	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.1183G>A	X.37:g.100652904C>T	ENSP00000218516:p.Gly395Arg					GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	p.G395R	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN			7	1204	-			395					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.1183G>A	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292832	0.60086	.	.	ENSG00000102393	ENST00000218516	D	0.99931	-8.17	5.38	5.38	0.77491	Glycosyl hydrolase, family 13, all-beta (1);	0.107782	0.64402	D	0.000005	D	0.99910	0.9957	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95714	0.8760	9	0.56958	D	0.05	-15.3005	13.8503	0.63492	0.0:0.8517:0.1483:0.0	.	395	P06280	AGAL_HUMAN	R	395	ENSP00000218516:G395R	ENSP00000218516:G395R	G	-	1	0	GLA	100539560	1.000000	0.71417	0.353000	0.25747	0.524000	0.34500	5.262000	0.65501	2.493000	0.84123	0.600000	0.82982	GGG		0.448	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			32	53	0	0	0	1	0	32	53				
CYR61	3491	broad.mit.edu	37	1	86047791	86047791	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:86047791T>C	ENST00000451137.2	+	3	682	c.458T>C	c.(457-459)gTt>gCt	p.V153A		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	153	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		CTGGTCAAAGTTACCGGGCAG	0.582											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(457-459)gTt>gCt		cysteine-rich, angiogenic inducer, 61							97.0	94.0	95.0					1																	86047791		2203	4300	6503	SO:0001583	missense	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86047791T>C	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.458T>C	1.37:g.86047791T>C	ENSP00000398736:p.Val153Ala		OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241		p.V153A	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	3	682	+			153			VWFC.		O14934|O43775|Q9BZL7	Missense_Mutation	SNP	ENST00000451137.2	37	c.458T>C	CCDS706.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539331	0.85917	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.69561	-0.41	6.08	6.08	0.98989	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.73430	2.235	0.80722	D	1	P	0.50156	0.932	P	0.51945	0.685	T	0.76342	-0.2994	10	0.87932	D	0	-17.4736	16.6438	0.85155	0.0:0.0:0.0:1.0	.	153	O00622	CYR61_HUMAN	A	153;129;153	ENSP00000398736:V153A	ENSP00000353612:V153A	V	+	2	0	CYR61	85820379	1.000000	0.71417	0.940000	0.37924	0.954000	0.61252	8.026000	0.88783	2.333000	0.79357	0.533000	0.62120	GTT		0.582	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		4	89	0	0	0	1	0	4	89				
DYRK1B	9149	broad.mit.edu	37	19	40316692	40316692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40316692C>T	ENST00000593685.1	-	11	2021	c.1553G>A	c.(1552-1554)gGg>gAg	p.G518E	DYRK1B_ENST00000348817.3_Missense_Mutation_p.G490E|DYRK1B_ENST00000430012.2_Missense_Mutation_p.G478E|DYRK1B_ENST00000597639.1_Missense_Mutation_p.G490E|DYRK1B_ENST00000323039.5_Missense_Mutation_p.G518E			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	518	Interaction with RANBP9.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CACATCACCCCCTGCCCAGGG	0.652																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1552-1554)gGg>gAg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							14.0	18.0	17.0					19																	40316692		2176	4279	6455	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316692C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1553G>A	19.37:g.40316692C>T	ENSP00000469863:p.Gly518Glu					DYRK1B_ENST00000348817.3_Missense_Mutation_p.G490E|DYRK1B_ENST00000323039.5_Missense_Mutation_p.G518E|DYRK1B_ENST00000430012.2_Missense_Mutation_p.G478E|DYRK1B_ENST00000597639.1_Missense_Mutation_p.G490E	p.G518E			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2021	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		518			Interaction with RANBP9.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1553G>A	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430656	0.62844	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.58060	0.36;0.45;0.47	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000001	T	0.55529	0.1926	L	0.32530	0.975	0.50039	D	0.999846	P;P;D	0.54772	0.692;0.947;0.968	B;P;P	0.55055	0.375;0.59;0.767	T	0.58272	-0.7665	10	0.51188	T	0.08	.	14.9592	0.71144	0.0:1.0:0.0:0.0	.	478;518;490	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	E	518;490;478	ENSP00000312789:G518E;ENSP00000221803:G490E;ENSP00000403182:G478E	ENSP00000312789:G518E	G	-	2	0	DYRK1B	45008532	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.447000	0.66606	2.077000	0.62373	0.462000	0.41574	GGG		0.652	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		6	21	0	0	0	1	0	6	21				
WDR90	197335	broad.mit.edu	37	16	700006	700006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:700006G>A	ENST00000293879.4	+	3	118	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	WDR90_ENST00000549091.1_Missense_Mutation_p.G40S|AL022341.3_ENST00000455294.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	40										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GACCCTGAAGGGCGCCGTGTA	0.657																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(118-120)Ggc>Agc		WD repeat domain 90							81.0	83.0	82.0					16																	700006		1986	4157	6143	SO:0001583	missense	197335							g.chr16:700006G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.118G>A	16.37:g.700006G>A	ENSP00000293879:p.Gly40Ser					WDR90_ENST00000293879.4_Missense_Mutation_p.G40S	p.G40S	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			3	210	+		Hepatocellular(780;0.0218)	40					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.118G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	2.975	-0.211549	0.06140	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.36699	1.24;1.24	4.63	-2.03	0.07365	.	0.195929	0.34291	U	0.004081	T	0.12860	0.0312	N	0.12182	0.205	0.58432	D	0.999993	B;B;B	0.18461	0.028;0.022;0.018	B;B;B	0.19946	0.027;0.018;0.019	T	0.15723	-1.0427	10	0.12766	T	0.61	.	1.8565	0.03180	0.1487:0.1174:0.4309:0.303	.	40;40;40	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	S	40	ENSP00000448122:G40S;ENSP00000293879:G40S	ENSP00000293879:G40S	G	+	1	0	WDR90	640007	1.000000	0.71417	0.000000	0.03702	0.090000	0.18270	0.873000	0.28052	-0.520000	0.06435	0.655000	0.94253	GGC		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		39	73	0	0	0	1	0	39	73				
PIR	8544	broad.mit.edu	37	X	15474123	15474123	+	Missense_Mutation	SNP	G	G	A	rs147114611		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:15474123G>A	ENST00000380421.3	-	5	788	c.328C>T	c.(328-330)Cca>Tca	p.P110S	PIR_ENST00000380420.5_Missense_Mutation_p.P110S|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	110					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CCATGGGCTGGCTCCTCTGAG	0.512																																					Ovarian(180;1587 2015 10555 34192 51653)	ENST00000380421.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(328-330)Cca>Tca		pirin (iron-binding nuclear protein)							178.0	178.0	178.0					X																	15474123		2203	4300	6503	SO:0001583	missense	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15474123G>A	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.328C>T	X.37:g.15474123G>A	ENSP00000369786:p.Pro110Ser					PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Missense_Mutation_p.P110S	p.P110S	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN			5	788	-	Hepatocellular(33;0.183)		110					Q5U0G0|Q6FHD2	Missense_Mutation	SNP	ENST00000380421.3	37	c.328C>T	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971366	0.34754	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.44083	0.93;0.93	6.07	5.13	0.70059	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);Pirin, N-terminal (1);	0.161847	0.53938	D	0.000044	T	0.31513	0.0799	L	0.38692	1.165	0.44073	D	0.996829	B	0.13145	0.007	B	0.15052	0.012	T	0.09143	-1.0688	10	0.09590	T	0.72	-22.6216	14.2735	0.66166	0.0:0.0:0.8404:0.1596	.	110	O00625	PIR_HUMAN	S	110	ENSP00000369785:P110S;ENSP00000369786:P110S	ENSP00000369785:P110S	P	-	1	0	PIR	15384044	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.803000	0.62546	2.557000	0.86248	0.594000	0.82650	CCA		0.512	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		10	256	0	0	0	1	0	10	256				
LCN15	389812	broad.mit.edu	37	9	139658446	139658446	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139658446A>G	ENST00000316144.5	-	2	136	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	38					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						GAGACCACGTACCAGAGGCCT	0.647																																						ENST00000316144.5																			0				endometrium(1)|lung(1)	2						c.(112-114)Tac>Cac		lipocalin 15							79.0	79.0	79.0					9																	139658446		2203	4300	6503	SO:0001583	missense	389812				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139658446A>G		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.112T>C	9.37:g.139658446A>G	ENSP00000313833:p.Tyr38His					LCN15_ENST00000482511.1_5'UTR	p.Y38H	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN			2	136	-			38						Missense_Mutation	SNP	ENST00000316144.5	37	c.112T>C	CCDS7006.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817109	0.50633	.	.	ENSG00000177984	ENST00000316144	T	0.18810	2.19	4.64	3.49	0.39957	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.318672	0.22661	N	0.057190	T	0.23171	0.0560	M	0.71581	2.175	0.36082	D	0.842887	B	0.25105	0.118	B	0.30646	0.118	T	0.10636	-1.0621	9	.	.	.	-2.8673	6.8282	0.23895	0.8905:0.0:0.1095:0.0	.	38	Q6UWW0	LCN15_HUMAN	H	38	ENSP00000313833:Y38H	.	Y	-	1	0	LCN15	138778267	0.943000	0.32029	0.898000	0.35279	0.971000	0.66376	1.445000	0.35079	0.636000	0.30508	0.533000	0.62120	TAC		0.647	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		25	68	0	0	0	1	0	25	68				
ZHX1	11244	broad.mit.edu	37	8	124267166	124267166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:124267166C>T	ENST00000522655.1	-	3	1561	c.1021G>A	c.(1021-1023)Gtt>Att	p.V341I	ZHX1_ENST00000297857.2_Missense_Mutation_p.V341I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.V341I|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	341	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|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)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCCAACTAACACCATGTTTT	0.398																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1021-1023)Gtt>Att		zinc fingers and homeoboxes 1							222.0	205.0	211.0					8																	124267166		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267166C>T	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1021G>A	8.37:g.124267166C>T	ENSP00000428821:p.Val341Ile					ZHX1_ENST00000522655.1_Missense_Mutation_p.V341I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.V341I	p.V341I	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1638	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		341			Required for dimerization.|Required for interaction with NFYA.		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.1021G>A	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140541	0.21205	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.14516	2.5;2.5;2.5	5.8	5.8	0.92144	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.125104	0.53938	D	0.000056	T	0.16085	0.0387	.	.	.	0.80722	D	1	P	0.52463	0.953	P	0.51582	0.674	T	0.01212	-1.1417	9	0.02654	T	1	-13.6207	20.0499	0.97621	0.0:1.0:0.0:0.0	.	341	Q9UKY1	ZHX1_HUMAN	I	341	ENSP00000297857:V341I;ENSP00000378938:V341I;ENSP00000428821:V341I	ENSP00000297857:V341I	V	-	1	0	ZHX1	124336347	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.940000	0.63533	2.738000	0.93877	0.555000	0.69702	GTT		0.398	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			56	137	0	0	0	1	0	56	137				
CASC1	55259	broad.mit.edu	37	12	25260782	25260782	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:25260782C>T	ENST00000320267.9	-	0	2361				LRMP_ENST00000548766.1_Missense_Mutation_p.L430F|LRMP_ENST00000547044.1_Missense_Mutation_p.L430F|LRMP_ENST00000354454.3_Missense_Mutation_p.L430F	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GGCAACAAATCTCAAGTCCTC	0.383																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1288-1290)Ctc>Ttc		lymphoid-restricted membrane protein							101.0	92.0	95.0					12																	25260782		2203	4300	6503	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25260782C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25260782C>T						LRMP_ENST00000548766.1_Missense_Mutation_p.L430F|LRMP_ENST00000547044.1_Missense_Mutation_p.L430F	p.L430F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			21	2117	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		486					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1288C>T	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159017	0.57368	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.23	4.34	0.51931	.	0.303936	0.26582	N	0.023569	T	0.31857	0.0810	L	0.58669	1.825	0.32809	D	0.50115	P	0.40931	0.733	B	0.42112	0.376	T	0.46219	-0.9207	10	0.38643	T	0.18	-9.9477	9.7358	0.40386	0.0:0.8307:0.0:0.1693	.	486	Q12912	LRMP_HUMAN	F	430;377;430;430	ENSP00000346442:L430F;ENSP00000444056:L377F;ENSP00000446496:L430F;ENSP00000450246:L430F	ENSP00000346442:L430F	L	+	1	0	LRMP	25152049	0.749000	0.28305	0.682000	0.30024	0.984000	0.73092	1.181000	0.32017	1.199000	0.43173	0.557000	0.71058	CTC		0.383	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		5	86	0	0	0	1	0	5	86				
EIF2AK2	5610	broad.mit.edu	37	2	37374066	37374066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:37374066C>T	ENST00000233057.4	-	4	492	c.170G>A	c.(169-171)gGt>gAt	p.G57D	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G57D|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G57D	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	57	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTTTGATCTACCTTCACCTTC	0.323																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(169-171)gGt>gAt		eukaryotic translation initiation factor 2-alpha kinase 2							126.0	119.0	121.0					2																	37374066		2203	4299	6502	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37374066C>T	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.170G>A	2.37:g.37374066C>T	ENSP00000233057:p.Gly57Asp					EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G57D|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G57D	p.G57D	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			4	492	-		all_hematologic(82;0.248)	57			DRBM 1.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.170G>A	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983849	0.53827	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.44	5.44	0.79542	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.64402	D	0.000015	D	0.95001	0.8382	H	0.94462	3.54	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94904	0.8059	10	0.38643	T	0.18	-24.717	14.7786	0.69749	0.0:1.0:0.0:0.0	.	57;57;57;57	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	D	57	ENSP00000233057:G57D;ENSP00000378559:G57D;ENSP00000385014:G57D;ENSP00000393921:G57D;ENSP00000374663:G57D	ENSP00000233057:G57D	G	-	2	0	EIF2AK2	37227570	0.973000	0.33851	0.951000	0.38953	0.244000	0.25665	3.209000	0.51122	2.541000	0.85698	0.650000	0.86243	GGT		0.323	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		29	33	0	0	0	1	0	29	33				
KLF7	8609	broad.mit.edu	37	2	208030259	208030259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:208030259C>T	ENST00000309446.6	-	1	410	c.34G>A	c.(34-36)Gag>Aag	p.E12K	KLF7_ENST00000458272.1_Missense_Mutation_p.E12K|KLF7_ENST00000421199.1_Intron|KLF7_ENST00000423015.1_Missense_Mutation_p.E12K	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	12					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		AGTTGTAGCTCCTGGAATATA	0.507																																						ENST00000309446.6																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11						c.(34-36)Gag>Aag		Kruppel-like factor 7 (ubiquitous)							98.0	96.0	97.0					2																	208030259		2203	4300	6503	SO:0001583	missense	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:208030259C>T	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.34G>A	2.37:g.208030259C>T	ENSP00000309570:p.Glu12Lys					KLF7_ENST00000421199.1_Intron|KLF7_ENST00000458272.1_Missense_Mutation_p.E12K|KLF7_ENST00000423015.1_Missense_Mutation_p.E12K	p.E12K	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	1	410	-			12					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	c.34G>A	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731722	0.69189	.	.	ENSG00000118263	ENST00000309446;ENST00000423015;ENST00000458272;ENST00000426163;ENST00000457962	T;T	0.12361	2.69;3.0	4.38	4.38	0.52667	.	0.169952	0.50627	N	0.000117	T	0.33731	0.0873	L	0.53671	1.685	0.80722	D	1	D;B	0.67145	0.996;0.312	D;B	0.75484	0.986;0.185	T	0.12528	-1.0544	10	0.87932	D	0	.	17.293	0.87163	0.0:1.0:0.0:0.0	.	12;12	Q96E51;O75840	.;KLF7_HUMAN	K	12	ENSP00000309570:E12K;ENSP00000393268:E12K	ENSP00000309570:E12K	E	-	1	0	KLF7	207738504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.513000	0.81739	2.146000	0.66826	0.462000	0.41574	GAG		0.507	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		38	58	0	0	0	1	0	38	58				
ATRN	8455	broad.mit.edu	37	20	3543950	3543950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:3543950G>A	ENST00000262919.5	+	10	1794	c.1726G>A	c.(1726-1728)Gac>Aac	p.D576N	ATRN_ENST00000446916.2_Missense_Mutation_p.D576N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	576					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CACACACAATGACACATCTAT	0.433																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1726-1728)Gac>Aac		attractin							189.0	153.0	165.0					20																	3543950		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3543950G>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1726G>A	20.37:g.3543950G>A	ENSP00000262919:p.Asp576Asn					ATRN_ENST00000446916.2_Missense_Mutation_p.D576N	p.D576N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			10	1794	+			576					A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.1726G>A	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400619	0.96030	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.63744	-0.06;-0.06	5.32	5.32	0.75619	Kelch-type beta propeller (1);	0.044299	0.85682	D	0.000000	T	0.80193	0.4578	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79526	-0.1767	10	0.45353	T	0.12	-24.3609	18.7896	0.91968	0.0:0.0:1.0:0.0	.	576;576	O75882;O75882-2	ATRN_HUMAN;.	N	576;576;502	ENSP00000262919:D576N;ENSP00000416587:D576N	ENSP00000262919:D576N	D	+	1	0	ATRN	3491950	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.590000	0.98238	2.777000	0.95525	0.591000	0.81541	GAC		0.433	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		65	103	0	0	0	1	0	65	103				
ANK3	288	broad.mit.edu	37	10	61846475	61846475	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:61846475C>T	ENST00000280772.2	-	30	3899	c.3708G>A	c.(3706-3708)ggG>ggA	p.G1236G	ANK3_ENST00000355288.2_Silent_p.G370G|ANK3_ENST00000373827.2_Silent_p.G1230G|ANK3_ENST00000503366.1_Silent_p.G1237G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1236	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGTAGTGTCCCCTTTGTATC	0.443																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3706-3708)ggG>ggA		ankyrin 3, node of Ranvier (ankyrin G)							149.0	136.0	141.0					10																	61846475		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61846475C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3708G>A	10.37:g.61846475C>T						ANK3_ENST00000503366.1_Silent_p.G1237G|ANK3_ENST00000355288.2_Silent_p.G370G|ANK3_ENST00000373827.2_Silent_p.G1230G	p.G1236G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			30	3899	-			1236					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.3708G>A	CCDS7258.1																																																																																				0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		25	56	0	0	0	1	0	25	56				
HEATR5A	25938	broad.mit.edu	37	14	31852737	31852737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:31852737C>T	ENST00000389961.3	-	9	1567	c.1568G>A	c.(1567-1569)gGa>gAa	p.G523E	HEATR5A_ENST00000439348.1_Missense_Mutation_p.G523E|HEATR5A_ENST00000543095.2_Missense_Mutation_p.G529E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G529E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G236E			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	523										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CTTGCCTTTTCCATGAGGAAT	0.373																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1585-1587)gGa>gAa		HEAT repeat containing 5A							186.0	179.0	181.0					14																	31852737		1877	4117	5994	SO:0001583	missense	25938						binding	g.chr14:31852737C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1568G>A	14.37:g.31852737C>T	ENSP00000374611:p.Gly523Glu					HEATR5A_ENST00000439348.1_Missense_Mutation_p.G523E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G236E|HEATR5A_ENST00000389961.3_Missense_Mutation_p.G523E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G529E	p.G529E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	10	1770	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		523					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.1586G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.82|15.82|15.82	2.945770|2.945770|2.945770	0.53079|0.53079|0.53079	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	.|T;T;T;T;T|.	.|0.06933|.	.|3.24;3.24;3.24;3.24;3.24|.	5.76|5.76|5.76	5.76|5.76|5.76	0.90799|0.90799|0.90799	.|Armadillo-type fold (1);|.	.|0.258019|.	.|0.38326|.	.|N|.	.|0.001728|.	T|T|.	0.58148|0.58148|.	0.2102|0.2102|.	N|N|N	0.25380|0.25380|0.25380	0.74|0.74|0.74	0.44843|0.44843|0.44843	D|D|D	0.997859|0.997859|0.997859	.|D;B;P|.	.|0.59357|.	.|0.985;0.082;0.696|.	.|P;B;B|.	.|0.54590|.	.|0.756;0.096;0.358|.	T|T|.	0.50524|0.50524|.	-0.8818|-0.8818|.	5|10|.	.|0.36615|.	.|T|.	.|0.2|.	.|.|.	19.973|19.973|19.973	0.97292|0.97292|0.97292	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|529;523;523|.	.|B5MC49;Q86XA9-2;Q86XA9|.	.|.;.;HTR5A_HUMAN|.	K|E|X	157|523;523;236;529;529|171	.|ENSP00000374611:G523E;ENSP00000405407:G523E;ENSP00000408681:G236E;ENSP00000437968:G529E;ENSP00000384646:G529E|.	.|ENSP00000374611:G523E|.	E|G|W	-|-|-	1|2|3	0|0|0	HEATR5A|HEATR5A|HEATR5A	30922488|30922488|30922488	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.987000|0.987000|0.987000	0.75469|0.75469|0.75469	2.781000|2.781000|2.781000	0.47750|0.47750|0.47750	2.725000|2.725000|2.725000	0.93324|0.93324|0.93324	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GAA|GGA|TGG		0.373	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		26	149	0	0	0	1	0	26	149				
ACBD6	84320	broad.mit.edu	37	1	180471343	180471343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:180471343C>T	ENST00000367595.3	-	1	746	c.59G>A	c.(58-60)aGc>aAc	p.S20N		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	20						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						GTCCCCTGAGCTCAGCTCTCC	0.652																																						ENST00000367595.3																		ACBD6/RRP15(2)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						c.(58-60)aGc>aAc		acyl-CoA binding domain containing 6							36.0	39.0	38.0					1																	180471343		2203	4300	6503	SO:0001583	missense	84320					cytoplasm|nucleus	fatty-acyl-CoA binding	g.chr1:180471343C>T	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.59G>A	1.37:g.180471343C>T	ENSP00000356567:p.Ser20Asn						p.S20N	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN			1	746	-			20						Missense_Mutation	SNP	ENST00000367595.3	37	c.59G>A	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916609	0.52546	.	.	ENSG00000135847	ENST00000367595	T	0.48836	0.8	4.79	4.79	0.61399	.	0.154365	0.64402	D	0.000019	T	0.44435	0.1293	L	0.27053	0.805	0.34110	D	0.662836	D	0.58268	0.982	P	0.52554	0.702	T	0.43065	-0.9414	10	0.10636	T	0.68	-8.699	16.7506	0.85484	0.0:1.0:0.0:0.0	.	20	Q9BR61	ACBD6_HUMAN	N	20	ENSP00000356567:S20N	ENSP00000356567:S20N	S	-	2	0	ACBD6	178737966	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.128000	0.42045	2.488000	0.83962	0.313000	0.20887	AGC		0.652	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360		12	24	0	0	0	1	0	12	24				
PPP1R26	9858	broad.mit.edu	37	9	138378322	138378322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:138378322C>T	ENST00000356818.2	+	4	2515	c.1966C>T	c.(1966-1968)Cct>Tct	p.P656S	PPP1R26_ENST00000605660.1_Missense_Mutation_p.P656S|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P656S|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P656S|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P656S|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	656					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CGCCAGGGGCCCTGGCGACAC	0.652																																						ENST00000356818.2																			0											c.(1966-1968)Cct>Tct		protein phosphatase 1, regulatory subunit 26							34.0	37.0	36.0					9																	138378322		2200	4300	6500	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138378322C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1966C>T	9.37:g.138378322C>T	ENSP00000349274:p.Pro656Ser					PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P656S|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P656S|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P656S|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P656S	p.P656S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	2515	+			656					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1966C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	1.786	-0.480805	0.04383	.	.	ENSG00000196422	ENST00000356818	T	0.20881	2.04	4.62	-3.31	0.04988	.	5.067870	0.00550	N	0.000252	T	0.08133	0.0203	N	0.04959	-0.14	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.18335	-1.0340	10	0.07030	T	0.85	-0.0818	3.2945	0.06961	0.1198:0.3662:0.3663:0.1477	.	656	Q5T8A7	PPR26_HUMAN	S	656	ENSP00000349274:P656S	ENSP00000349274:P656S	P	+	1	0	KIAA0649	137518143	0.073000	0.21202	0.000000	0.03702	0.006000	0.05464	2.299000	0.43611	-0.992000	0.03472	-0.438000	0.05819	CCT		0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		10	34	0	0	0	1	0	10	34				
PRDM9	56979	broad.mit.edu	37	5	23526445	23526445	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:23526445C>T	ENST00000296682.3	+	11	1430	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	416					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)			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						CTCAGAACTTCCCAGGACCAT	0.488										HNSCC(3;0.000094)																												ENST00000296682.3																			0				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						c.(1246-1248)ttC>ttT		PR domain containing 9							125.0	118.0	120.0					5																	23526445		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526445C>T	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.1248C>T	5.37:g.23526445C>T		HNSCC(3;0.000094)					p.F416F	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1430	+			416					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1248C>T	CCDS43307.1																																																																																				0.488	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		24	46	0	0	0	1	0	24	46				
GPS1	2873	broad.mit.edu	37	17	80011896	80011896	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80011896G>A	ENST00000306823.6	+	3	302	c.279G>A	c.(277-279)gaG>gaA	p.E93E	GPS1_ENST00000578552.1_Silent_p.E93E|GPS1_ENST00000392358.2_Silent_p.E133E|GPS1_ENST00000355130.2_Silent_p.E133E|RFNG_ENST00000429557.3_5'Flank|GPS1_ENST00000320548.4_Silent_p.E77E|RFNG_ENST00000310496.4_5'Flank			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	93					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGTACGAGGAGATCCACCGCA	0.632																																						ENST00000392358.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(397-399)gaG>gaA		G protein pathway suppressor 1							52.0	41.0	45.0					17																	80011896		2199	4296	6495	SO:0001819	synonymous_variant	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80011896G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.279G>A	17.37:g.80011896G>A						GPS1_ENST00000355130.2_Silent_p.E133E|GPS1_ENST00000306823.6_Silent_p.E93E|GPS1_ENST00000578552.1_Silent_p.E93E|GPS1_ENST00000320548.4_Silent_p.E77E	p.E133E	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		3	748	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		93					Q8NA10|Q9BWL1	Silent	SNP	ENST00000306823.6	37	c.399G>A	CCDS32774.1																																																																																				0.632	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		10	11	0	0	0	1	0	10	11				
BTNL8	79908	broad.mit.edu	37	5	180374545	180374545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:180374545C>T	ENST00000340184.4	+	4	913	c.707C>T	c.(706-708)gCt>gTt	p.A236V	BTNL8_ENST00000511704.1_Missense_Mutation_p.A120V|BTNL8_ENST00000400707.3_Missense_Mutation_p.A111V|BTNL8_ENST00000505126.1_Missense_Mutation_p.A29V|BTNL8_ENST00000231229.4_Missense_Mutation_p.A236V|BTNL8_ENST00000533815.2_Missense_Mutation_p.A52V|BTNL8_ENST00000508408.1_Missense_Mutation_p.A236V	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	236					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCACCTGGCTACCAAAGTA	0.393																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(706-708)gCt>gTt		butyrophilin-like 8							218.0	231.0	227.0					5																	180374545		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180374545C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.707C>T	5.37:g.180374545C>T	ENSP00000342197:p.Ala236Val					BTNL8_ENST00000511704.1_Missense_Mutation_p.A120V|BTNL8_ENST00000508408.1_Missense_Mutation_p.A236V|BTNL8_ENST00000340184.4_Missense_Mutation_p.A236V|BTNL8_ENST00000533815.2_Missense_Mutation_p.A52V|BTNL8_ENST00000400707.3_Missense_Mutation_p.A111V|BTNL8_ENST00000505126.1_Missense_Mutation_p.A29V	p.A236V	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	941	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	236					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.707C>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573210	0.28092	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.61392	4.75;1.22;0.52;4.75;0.51;0.11;0.13	1.52	0.49	0.16861	.	.	.	.	.	T	0.51312	0.1667	L	0.51853	1.615	0.09310	N	1	D;D;B;D;P	0.61697	0.97;0.99;0.279;0.963;0.895	P;P;B;P;B	0.48704	0.587;0.587;0.055;0.447;0.351	T	0.41574	-0.9501	9	0.48119	T	0.1	.	3.2186	0.06707	0.0:0.652:0.0:0.348	.	111;120;236;236;236	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	V	236;236;111;236;120;29;52	ENSP00000231229:A236V;ENSP00000342197:A236V;ENSP00000383543:A111V;ENSP00000424585:A236V;ENSP00000425207:A120V;ENSP00000427441:A29V;ENSP00000435098:A52V	ENSP00000231229:A236V	A	+	2	0	BTNL8	180307151	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.286000	0.08399	0.135000	0.18707	0.436000	0.28706	GCT		0.393	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		116	76	0	0	0	1	0	116	76				
PLG	5340	broad.mit.edu	37	6	161139482	161139482	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:161139482C>T	ENST00000308192.9	+	8	1007	c.944C>T	c.(943-945)cCc>cTc	p.P315L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	315	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTTCCCCTGCAAGTAA	0.498																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(943-945)cCc>cTc		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						111.0	117.0	115.0					6																	161139482		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139482C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.944C>T	6.37:g.161139482C>T	ENSP00000308938:p.Pro315Leu						p.P315L	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	1007	+			315			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.944C>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034458	0.75617	.	.	ENSG00000122194	ENST00000308192	T	0.64991	-0.13	5.3	5.3	0.74995	Kringle (4);Kringle-like fold (1);	0.000000	0.39146	U	0.001449	T	0.74943	0.3783	M	0.92923	3.36	0.80722	D	1	P	0.48764	0.915	P	0.52856	0.711	T	0.77199	-0.2675	10	0.33940	T	0.23	.	18.1034	0.89513	0.0:1.0:0.0:0.0	.	315	P00747	PLMN_HUMAN	L	315	ENSP00000308938:P315L	ENSP00000308938:P315L	P	+	2	0	PLG	161059472	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	5.045000	0.64220	2.644000	0.89710	0.655000	0.94253	CCC		0.498	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		23	59	0	0	0	1	0	23	59				
COL17A1	1308	broad.mit.edu	37	10	105833973	105833973	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105833973G>A	ENST00000353479.5	-	6	638	c.348C>T	c.(346-348)aaC>aaT	p.N116N	COL17A1_ENST00000369733.3_Silent_p.N116N|COL17A1_ENST00000393211.3_Silent_p.N116N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	116	Nonhelical region (NC16).				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)				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)		CCGGAGAAGAGTTGCCACTGG	0.478																																						ENST00000353479.5																			0				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						c.(346-348)aaC>aaT		collagen, type XVII, alpha 1							70.0	75.0	74.0					10																	105833973		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105833973G>A	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.348C>T	10.37:g.105833973G>A						COL17A1_ENST00000369733.3_Silent_p.N116N|COL17A1_ENST00000393211.3_Silent_p.N116N	p.N116N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	6	638	-		Colorectal(252;0.103)|Breast(234;0.122)	116			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.348C>T	CCDS7554.1																																																																																				0.478	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		32	73	0	0	0	1	0	32	73				
ABCB7	22	broad.mit.edu	37	X	74288930	74288930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:74288930G>A	ENST00000373394.3	-	12	1578	c.1571C>T	c.(1570-1572)cCt>cTt	p.P524L	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.P484L|ABCB7_ENST00000253577.3_Missense_Mutation_p.P525L			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	524	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ACCCTTTTGAGGCTCATAGAA	0.408																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1573-1575)cCt>cTt		ATP-binding cassette, sub-family B (MDR/TAP), member 7							117.0	104.0	108.0					X																	74288930		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74288930G>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1571C>T	X.37:g.74288930G>A	ENSP00000362492:p.Pro524Leu					ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Missense_Mutation_p.P524L|ABCB7_ENST00000339447.4_Missense_Mutation_p.P484L	p.P525L	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			12	1598	-			524			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1574C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.080766	0.76528	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.24	5.24	0.73138	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.051031	0.85682	D	0.000000	D	0.96408	0.8828	M	0.67569	2.06	0.80722	D	1	P;P;D;P;P	0.59357	0.521;0.84;0.985;0.576;0.84	B;P;D;P;P	0.65773	0.379;0.702;0.938;0.513;0.767	D	0.95768	0.8806	10	0.36615	T	0.2	-21.5621	16.8091	0.85713	0.0:0.0:1.0:0.0	.	498;484;525;524;525	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	L	498;525;484;524;498	ENSP00000253577:P525L;ENSP00000343849:P484L;ENSP00000362492:P524L;ENSP00000436586:P498L	ENSP00000253577:P525L	P	-	2	0	ABCB7	74205655	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.209000	0.95087	2.174000	0.68829	0.594000	0.82650	CCT		0.408	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		33	70	0	0	0	1	0	33	70				
INPPL1	3636	broad.mit.edu	37	11	71948383	71948383	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:71948383C>T	ENST00000298229.2	+	26	3299	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	INPPL1_ENST00000538751.1_Missense_Mutation_p.P790L|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Missense_Mutation_p.P790L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1032	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)			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						CACCGGCACCCTCGTGTGGGA	0.632																																						ENST00000298229.2																			0				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						c.(3094-3096)cCt>cTt		inositol polyphosphate phosphatase-like 1							71.0	76.0	74.0					11																	71948383		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948383C>T	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.3095C>T	11.37:g.71948383C>T	ENSP00000298229:p.Pro1032Leu					INPPL1_ENST00000541756.1_Missense_Mutation_p.P790L|INPPL1_ENST00000538751.1_Missense_Mutation_p.P790L	p.P1032L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			26	3299	+			1032			Pro-rich.		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.3095C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	12.08	1.830674	0.32329	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751;ENST00000541752	D;D;D;T	0.96427	-2.89;-4.01;-4.01;1.42	5.22	4.31	0.51392	.	0.230210	0.35151	N	0.003404	D	0.91496	0.7315	N	0.19112	0.55	0.58432	D	0.999995	B	0.10296	0.003	B	0.06405	0.002	D	0.87600	0.2496	10	0.56958	D	0.05	.	11.3578	0.49625	0.0:0.9111:0.0:0.0888	.	1032	O15357	SHIP2_HUMAN	L	1032;790;790;45	ENSP00000298229:P1032L;ENSP00000446360:P790L;ENSP00000444619:P790L;ENSP00000441094:P45L	ENSP00000298229:P1032L	P	+	2	0	INPPL1	71626031	0.709000	0.27886	0.928000	0.36995	0.400000	0.30750	2.767000	0.47637	1.198000	0.43158	0.563000	0.77884	CCT		0.632	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		4	75	0	0	0	1	0	4	75				
FOXH1	8928	broad.mit.edu	37	8	145700632	145700632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145700632C>T	ENST00000377317.4	-	2	765	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	FOXH1_ENST00000525197.1_Intron	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	63					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACGGCCTGGACCTGACGGATG	0.662																																						ENST00000377317.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(187-189)Gtc>Atc		forkhead box H1							31.0	32.0	32.0					8																	145700632		2202	4298	6500	SO:0001583	missense	8928				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr8:145700632C>T	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.187G>A	8.37:g.145700632C>T	ENSP00000366534:p.Val63Ile					FOXH1_ENST00000525197.1_Intron	p.V63I	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		2	765	-	all_cancers(97;4.61e-11)|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)		63					D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	c.187G>A	CCDS6428.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051765	0.55218	.	.	ENSG00000160973	ENST00000377317;ENST00000292541	D	0.93659	-3.26	5.31	4.41	0.53225	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.211799	0.40222	N	0.001153	T	0.78748	0.4332	N	0.01438	-0.865	0.40723	D	0.982675	B	0.29612	0.251	B	0.27796	0.083	T	0.77723	-0.2481	10	0.02654	T	1	-15.5885	13.5085	0.61497	0.0:0.8419:0.1581:0.0	.	63	O75593	FOXH1_HUMAN	I	63;90	ENSP00000366534:V63I	ENSP00000292541:V90I	V	-	1	0	FOXH1	145671440	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.613000	0.46351	1.195000	0.43115	0.563000	0.77884	GTC		0.662	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1			15	18	0	0	0	1	0	15	18				
FOXA1	3169	broad.mit.edu	37	14	38061266	38061266	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:38061266G>A	ENST00000250448.2	-	2	784	c.723C>T	c.(721-723)ggC>ggT	p.G241G	FOXA1_ENST00000540786.1_Silent_p.G208G|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	241					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCCAGTAGGAGCCCTTGCCCG	0.647																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(721-723)ggC>ggT		forkhead box A1							37.0	36.0	36.0					14																	38061266		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061266G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.723C>T	14.37:g.38061266G>A						FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.G208G	p.G241G	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	784	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		241					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.723C>T	CCDS9665.1																																																																																				0.647	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			14	21	0	0	0	1	0	14	21				
ARHGAP9	64333	broad.mit.edu	37	12	57871324	57871324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57871324G>A	ENST00000356411.2	-	4	812	c.674C>T	c.(673-675)cCc>cTc	p.P225L	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P304L|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P41L|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P296L|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P225L|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P225L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	225	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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.P225H(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCAGAGTTGGGGTCCAGGTG	0.642																																						ENST00000393797.2																			1	Substitution - Missense(1)	p.P225H(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(886-888)cCc>cTc		Rho GTPase activating protein 9							47.0	54.0	52.0					12																	57871324		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57871324G>A	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.674C>T	12.37:g.57871324G>A	ENSP00000348782:p.Pro225Leu					ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P304L|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P225L|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P225L|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P225L|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P41L	p.P296L			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		7	1079	-			225					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.887C>T		.	.	.	.	.	.	.	.	.	.	G	4.023	0.001818	0.07819	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066;ENST00000549602	T;T;T;T;T;T;T;T;T;D	0.83419	-1.07;-1.07;-1.07;-1.07;-1.07;0.88;0.88;0.88;0.88;-1.72	3.58	-0.0701	0.13748	WW/Rsp5/WWP (2);	0.362787	0.25500	N	0.030245	T	0.73682	0.3618	L	0.60845	1.875	0.38998	D	0.959296	B;B;B;B;B;B	0.14012	0.009;0.003;0.0;0.003;0.0;0.0	B;B;B;B;B;B	0.15052	0.012;0.003;0.001;0.005;0.001;0.0	T	0.62987	-0.6737	10	0.54805	T	0.06	.	2.6672	0.05056	0.3236:0.0:0.465:0.2114	.	225;304;225;225;225;41	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	L	225;225;225;296;274;41;41;41;78;41;41	ENSP00000377380:P225L;ENSP00000348782:P225L;ENSP00000394307:P225L;ENSP00000377386:P296L;ENSP00000397950:P41L;ENSP00000449829:P41L;ENSP00000450256:P41L;ENSP00000446932:P78L;ENSP00000448424:P41L;ENSP00000450223:P41L	ENSP00000344852:P274L	P	-	2	0	ARHGAP9	56157591	0.256000	0.24012	0.898000	0.35279	0.997000	0.91878	0.321000	0.19558	-0.021000	0.14009	0.655000	0.94253	CCC		0.642	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		21	45	0	0	0	1	0	21	45				
PIAS4	51588	broad.mit.edu	37	19	4033153	4033153	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:4033153G>A	ENST00000262971.2	+	8	1078	c.963G>A	c.(961-963)cgG>cgA	p.R321R		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	321					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGTGTGCGGGTGTCCCTCA	0.701																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(961-963)cgG>cgA		protein inhibitor of activated STAT, 4							73.0	65.0	68.0					19																	4033153		2202	4300	6502	SO:0001819	synonymous_variant	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4033153G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.963G>A	19.37:g.4033153G>A							p.R321R	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1078	+			321					O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	37	c.963G>A	CCDS12118.1																																																																																				0.701	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		4	59	0	0	0	1	0	4	59				
PPARD	5467	broad.mit.edu	37	6	35391792	35391792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:35391792G>A	ENST00000311565.4	+	7	843	c.494G>A	c.(493-495)gGg>gAg	p.G165E	PPARD_ENST00000448077.2_Missense_Mutation_p.G126E|PPARD_ENST00000444397.1_Missense_Mutation_p.G165E|PPARD_ENST00000337400.2_Missense_Mutation_p.G165E|PPARD_ENST00000418635.2_Missense_Mutation_p.G67E|PPARD_ENST00000360694.3_Missense_Mutation_p.G165E|PPARD_ENST00000540939.1_Missense_Mutation_p.G62E	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	165					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GCAAACGAGGGGAGCCAGTAC	0.567																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(493-495)gGg>gAg		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						85.0	88.0	87.0					6																	35391792		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35391792G>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.494G>A	6.37:g.35391792G>A	ENSP00000310928:p.Gly165Glu					PPARD_ENST00000448077.2_Missense_Mutation_p.G126E|PPARD_ENST00000444397.1_Missense_Mutation_p.G165E|PPARD_ENST00000418635.2_Missense_Mutation_p.G67E|PPARD_ENST00000337400.2_Missense_Mutation_p.G165E|PPARD_ENST00000540939.1_Missense_Mutation_p.G62E|PPARD_ENST00000360694.3_Missense_Mutation_p.G165E	p.G165E	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			7	843	+			165					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.494G>A	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	0.449	-0.894502	0.02491	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.93953	-3.11;-3.13;-3.09;-3.32;-3.13;-3.32;-3.03	4.51	2.52	0.30459	.	0.711976	0.13963	N	0.350682	T	0.64692	0.2621	N	0.04508	-0.205	0.32615	N	0.524158	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.46428	-0.9192	10	0.02654	T	1	.	8.7814	0.34794	0.0:0.1197:0.6491:0.2312	.	67;126;165;165	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	E	126;165;67;165;165;165;62	ENSP00000414372:G126E;ENSP00000353916:G165E;ENSP00000413314:G67E;ENSP00000410837:G165E;ENSP00000310928:G165E;ENSP00000337063:G165E;ENSP00000443759:G62E	ENSP00000310928:G165E	G	+	2	0	PPARD	35499770	1.000000	0.71417	0.986000	0.45419	0.532000	0.34746	0.891000	0.28309	1.121000	0.41925	0.467000	0.42956	GGG		0.567	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		17	49	0	0	0	1	0	17	49				
TLE4	7091	broad.mit.edu	37	9	82267593	82267593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:82267593C>T	ENST00000376552.2	+	7	1494	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TLE4_ENST00000265284.6_Missense_Mutation_p.A134V|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.A159V|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376520.4_Missense_Mutation_p.A159V|TLE4_ENST00000376544.3_Missense_Mutation_p.A159V	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	159	Gly/Pro-rich (GP domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGCCCCCTGCCATTCCACCC	0.547																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(475-477)gCc>gTc		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							94.0	101.0	99.0					9																	82267593		1990	4145	6135	SO:0001583	missense	7091							g.chr9:82267593C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.476C>T	9.37:g.82267593C>T	ENSP00000365735:p.Ala159Val					TLE4_ENST00000376552.2_Missense_Mutation_p.A159V|TLE4_ENST00000265284.6_Missense_Mutation_p.A134V|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.A159V|TLE4_ENST00000376544.3_Missense_Mutation_p.A159V	p.A159V			O60756	BCE1_HUMAN			7	1304	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.476C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885808	0.72410	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.47869	0.83;0.89;0.9;0.87;0.9;0.92;0.89;1.46;1.89	6.04	6.04	0.98038	.	0.125317	0.56097	D	0.000037	T	0.41465	0.1160	L	0.34521	1.04	0.80722	D	1	B;P;B;B	0.37015	0.039;0.578;0.001;0.038	B;B;B;B	0.32465	0.062;0.146;0.005;0.044	T	0.36163	-0.9759	10	0.62326	D	0.03	-24.8319	20.5948	0.99439	0.0:1.0:0.0:0.0	.	134;159;159;159	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	V	159;159;159;173;173;159;134;157;144;29	ENSP00000365735:A159V;ENSP00000365727:A159V;ENSP00000365703:A159V;ENSP00000415423:A173V;ENSP00000365720:A159V;ENSP00000265284:A134V;ENSP00000412567:A157V;ENSP00000409313:A144V;ENSP00000417844:A29V	ENSP00000265284:A134V	A	+	2	0	TLE4	81457413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.364000	0.66110	2.873000	0.98535	0.563000	0.77884	GCC		0.547	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		7	134	0	0	0	1	0	7	134				
TMEM119	338773	broad.mit.edu	37	12	108985353	108985353	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:108985353G>A	ENST00000392806.3	-	2	975	c.807C>T	c.(805-807)ccC>ccT	p.P269P		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	269					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGCTTTCGGGGGGACCCACTG	0.672																																						ENST00000392806.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						c.(805-807)ccC>ccT		transmembrane protein 119							55.0	66.0	62.0					12																	108985353		2203	4299	6502	SO:0001819	synonymous_variant	338773					integral to membrane		g.chr12:108985353G>A	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.807C>T	12.37:g.108985353G>A							p.P269P	NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN			2	975	-			269					Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	c.807C>T	CCDS9119.1																																																																																				0.672	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		48	71	0	0	0	1	0	48	71				
GAD1	2571	broad.mit.edu	37	2	171678627	171678627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:171678627G>A	ENST00000358196.3	+	3	663	c.113G>A	c.(112-114)gGa>gAa	p.G38E	GAD1_ENST00000375272.1_Missense_Mutation_p.G38E|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.G38E	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	38					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GTGGCCCATGGATGCACCAGA	0.642																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(112-114)gGa>gAa		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						50.0	43.0	45.0					2																	171678627		2203	4299	6502	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171678627G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.113G>A	2.37:g.171678627G>A	ENSP00000350928:p.Gly38Glu					GAD1_ENST00000375272.1_Missense_Mutation_p.G38E|GAD1_ENST00000344257.5_Missense_Mutation_p.G38E|GAD1_ENST00000429023.1_3'UTR	p.G38E	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			3	663	+			38					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.113G>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376336	0.95945	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	D;T;T;T;T;T	0.88354	-2.37;2.33;0.38;0.38;-1.33;-1.25	4.97	4.97	0.65823	.	0.163798	0.53938	D	0.000042	D	0.91317	0.7262	L	0.54323	1.7	0.80722	D	1	B;D	0.61080	0.258;0.989	B;P	0.59012	0.075;0.85	D	0.89453	0.3731	10	0.29301	T	0.29	-3.3126	16.5808	0.84714	0.0:0.0:1.0:0.0	.	38;38	Q99259;Q99259-3	DCE1_HUMAN;.	E	38	ENSP00000402366:G38E;ENSP00000350928:G38E;ENSP00000364421:G38E;ENSP00000341167:G38E;ENSP00000405917:G38E;ENSP00000394255:G38E	ENSP00000341167:G38E	G	+	2	0	GAD1	171386873	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.940000	0.92958	2.586000	0.87340	0.561000	0.74099	GGA		0.642	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			8	8	0	0	0	1	0	8	8				
HLA-F	3134	broad.mit.edu	37	6	29693820	29693820	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:29693820G>A	ENST00000376861.1	+	7	1420	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000434407.2_Splice_Site_p.V254M|HLA-F_ENST00000334668.4_Splice_Site_p.V346M|HLA-F_ENST00000259951.7_Splice_Site_p.A346T|HLA-F_ENST00000440587.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	346					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TCAGGCTGCAGGTAAGATGAA	0.527																																						ENST00000376861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.e7+1		major histocompatibility complex, class I, F							64.0	67.0	66.0					6																	29693820		2203	4300	6503	SO:0001630	splice_region_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29693820G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.1036+1G>A	6.37:g.29693820G>A						HLA-F_ENST00000334668.4_Splice_Site_p.V346_splice|HLA-F_ENST00000259951.7_Splice_Site_p.A346_splice|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000434407.2_Splice_Site_p.V254_splice|HLA-F_ENST00000440587.2_Intron	p.V346_splice			P30511	HLAF_HUMAN			7	1420	+			346					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Splice_Site	SNP	ENST00000376861.1	37	c.1036_splice	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.40|10.40	1.339693|1.339693	0.24339|0.24339	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258|ENST00000376861;ENST00000334668;ENST00000434407	T|T;T;T	0.00705|0.00695	5.81|5.83;5.83;5.87	1.92|1.92	-3.8|-3.8	0.04307|0.04307	.|.	.|.	.|.	.|.	.|.	T|T	0.00144|0.00144	0.0004|0.0004	N|N	0.08118|0.08118	0|0	0.21105|0.21105	N|N	0.999788|0.999788	B;B|B;B	0.18310|0.02656	0.027;0.01|0.0;0.0	B;B|B;B	0.10450|0.01281	0.004;0.005|0.0;0.0	T|T	0.38693|0.38693	-0.9649|-0.9649	9|9	0.87932|0.45353	D|T	0|0.12	.|.	0.1105|0.1105	0.00056|0.00056	0.3408:0.24:0.1819:0.2373|0.3408:0.24:0.1819:0.2373	.|.	346;346|346;254	A8MVU7;P30511-3|P30511;P30511-2	.;.|HLAF_HUMAN;.	T|M	323;346;260|346;346;254	ENSP00000259951:A346T|ENSP00000366057:V346M;ENSP00000334263:V346M;ENSP00000397376:V254M	ENSP00000259951:A346T|ENSP00000334263:V346M	A|V	+|+	1|1	0|0	HLA-F|HLA-F	29801799|29801799	0.600000|0.600000	0.26899|0.26899	0.084000|0.084000	0.20598|0.20598	0.040000|0.040000	0.13550|0.13550	-0.484000|-0.484000	0.06528|0.06528	-0.506000|-0.506000	0.06558|0.06558	-0.901000|-0.901000	0.02856|0.02856	GCC|GTG		0.527	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950	Missense_Mutation	4	80	0	0	0	1	0	4	80				
SLC4A3	6508	broad.mit.edu	37	2	220504287	220504287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220504287G>A	ENST00000358055.3	+	20	3619	c.3107G>A	c.(3106-3108)gGg>gAg	p.G1036E	SLC4A3_ENST00000373762.3_Missense_Mutation_p.G1063E|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G1036E|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G1036E|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G1063E			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1036	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCTGGGGGGGCTCTGTGGG	0.642																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3106-3108)gGg>gAg		solute carrier family 4 (anion exchanger), member 3							54.0	58.0	57.0					2																	220504287		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220504287G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3107G>A	2.37:g.220504287G>A	ENSP00000350756:p.Gly1036Glu					SLC4A3_ENST00000373762.3_Missense_Mutation_p.G1063E|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G1036E|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G1063E|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G1036E	p.G1036E			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3619	+		Renal(207;0.0183)	1036			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.3107G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085694	0.76642	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.38	4.38	0.52667	Bicarbonate transporter, C-terminal (1);	0.122704	0.53938	D	0.000057	D	0.89660	0.6779	M	0.88310	2.945	0.51012	D	0.9999	P;D;D	0.76494	0.949;0.997;0.999	P;D;D	0.78314	0.861;0.987;0.991	D	0.91461	0.5189	10	0.59425	D	0.04	.	17.5373	0.87835	0.0:0.0:1.0:0.0	.	740;1036;1063	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	E	1036;1036;1063;1063;296;1036	ENSP00000350756:G1036E;ENSP00000362865:G1036E;ENSP00000273063:G1063E;ENSP00000362867:G1063E;ENSP00000314006:G1036E	ENSP00000273063:G1063E	G	+	2	0	SLC4A3	220212531	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	4.250000	0.58772	2.431000	0.82371	0.539000	0.68188	GGG		0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		19	41	0	0	0	1	0	19	41				
MAP3K6	9064	broad.mit.edu	37	1	27684811	27684811	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27684811C>T	ENST00000493901.1	-	22	3016		c.e22-1		MAP3K6_ENST00000357582.2_Splice_Site|MAP3K6_ENST00000374040.3_Splice_Site	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6						activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GAAGGGGCATCTGAGGGAGGG	0.647											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000493901.1																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.e22-1		mitogen-activated protein kinase kinase kinase 6							77.0	89.0	85.0					1																	27684811		2203	4300	6503	SO:0001630	splice_region_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27684811C>T	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2777-1G>A	1.37:g.27684811C>T			OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	796	MAP3K6_ENST00000357582.2_Splice_Site|MAP3K6_ENST00000374040.3_Splice_Site		NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	22	3016	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)						A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Splice_Site	SNP	ENST00000493901.1	37		CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161816	0.38217	.	.	ENSG00000142733	ENST00000374040;ENST00000472410;ENST00000493901;ENST00000545447;ENST00000357582	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2718	0.60165	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K6	27557398	0.962000	0.33011	0.880000	0.34516	0.590000	0.36582	1.965000	0.40471	2.525000	0.85131	0.650000	0.86243	.		0.647	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672	Intron	4	38	0	0	0	1	0	4	38				
CPLX1	10815	broad.mit.edu	37	4	780364	780364	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:780364C>T	ENST00000304062.6	-	4	561	c.330G>A	c.(328-330)gaG>gaA	p.E110E	CPLX1_ENST00000505203.1_Silent_p.E89E	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	110					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		CGTCCTCCTCCTCCACCTCGT	0.711																																						ENST00000304062.6																			0				kidney(1)|lung(2)	3						c.(328-330)gaG>gaA		complexin 1							28.0	32.0	30.0					4																	780364		2201	4296	6497	SO:0001819	synonymous_variant	10815				glutamate secretion	cytosol		g.chr4:780364C>T	AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.330G>A	4.37:g.780364C>T						CPLX1_ENST00000505203.1_Silent_p.E89E	p.E110E	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN		Colorectal(103;0.187)	4	561	-			110					A6NI80|B2R4R5|D3DVN3|F1T0G1	Silent	SNP	ENST00000304062.6	37	c.330G>A	CCDS46995.1																																																																																				0.711	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358830.1			9	9	0	0	0	1	0	9	9				
DLC1	10395	broad.mit.edu	37	8	13251177	13251177	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:13251177C>T	ENST00000276297.4	-	4	1608	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	DLC1_ENST00000316609.5_Missense_Mutation_p.G400E|DLC1_ENST00000511869.1_Missense_Mutation_p.G400E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	400					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)			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						GGTATCTGCTCCACTTTCAGA	0.438																																						ENST00000276297.4																			0				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						c.(1198-1200)gGa>gAa		deleted in liver cancer 1							139.0	130.0	133.0					8																	13251177		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13251177C>T	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.1199G>A	8.37:g.13251177C>T	ENSP00000276297:p.Gly400Glu					DLC1_ENST00000511869.1_Missense_Mutation_p.G400E|DLC1_ENST00000316609.5_Missense_Mutation_p.G400E	p.G400E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			4	1608	-			400					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1199G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363396	0.82353	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.14893	3.63;2.48;2.47	4.85	4.85	0.62838	.	0.000000	0.39475	N	0.001347	T	0.32556	0.0833	L	0.38175	1.15	0.39129	D	0.961828	D;D;D	0.76494	0.999;0.999;0.976	D;D;P	0.77004	0.989;0.989;0.684	T	0.03717	-1.1010	10	0.51188	T	0.08	.	16.7016	0.85350	0.0:1.0:0.0:0.0	.	400;400;400	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	E	400	ENSP00000276297:G400E;ENSP00000321034:G400E;ENSP00000425878:G400E	ENSP00000276297:G400E	G	-	2	0	DLC1	13295548	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	4.843000	0.62838	2.693000	0.91896	0.650000	0.86243	GGA		0.438	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		30	53	0	0	0	1	0	30	53				
CEP250	11190	broad.mit.edu	37	20	34090685	34090685	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:34090685C>T	ENST00000397527.1	+	30	5208	c.4488C>T	c.(4486-4488)gtC>gtT	p.V1496V	CEP250_ENST00000342580.4_Silent_p.V1440V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1496	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCATGGCCGTCCAGGAGCGAG	0.527																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4486-4488)gtC>gtT		centrosomal protein 250kDa							60.0	60.0	60.0					20																	34090685		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34090685C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4488C>T	20.37:g.34090685C>T						CEP250_ENST00000342580.4_Silent_p.V1440V	p.V1496V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5208	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1496			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.4488C>T	CCDS13255.1																																																																																				0.527	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		17	32	0	0	0	1	0	17	32				
RHAG	6005	broad.mit.edu	37	6	49580195	49580195	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:49580195G>A	ENST00000371175.4	-	6	886	c.860C>T	c.(859-861)gCg>gTg	p.A287V	RHAG_ENST00000229810.7_Missense_Mutation_p.A287V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	287					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGCCATATCCGCACAAGTGCC	0.473																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(859-861)gCg>gTg		Rh-associated glycoprotein							112.0	93.0	100.0					6																	49580195		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49580195G>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.860C>T	6.37:g.49580195G>A	ENSP00000360217:p.Ala287Val					RHAG_ENST00000229810.7_Missense_Mutation_p.A287V	p.A287V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			6	886	-	Lung NSC(77;0.0255)		287					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.860C>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973180	0.74246	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.29917	1.55;1.55	5.54	5.54	0.83059	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.75020	0.98;0.985;0.877	T	0.59857	-0.7375	10	0.56958	D	0.05	-17.0245	18.4694	0.90767	0.0:0.0:1.0:0.0	.	287;287;287	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	V	287	ENSP00000360217:A287V;ENSP00000229810:A287V	ENSP00000229810:A287V	A	-	2	0	RHAG	49688154	1.000000	0.71417	0.972000	0.41901	0.473000	0.32948	7.876000	0.87215	2.600000	0.87896	0.655000	0.94253	GCG		0.473	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			4	37	0	0	0	1	0	4	37				
IGF2R	3482	broad.mit.edu	37	6	160453618	160453618	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160453618C>T	ENST00000356956.1	+	8	1066	c.918C>T	c.(916-918)tgC>tgT	p.C306C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	306					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)			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)	AATCCAACTGCCGCTATGAAA	0.428																																						ENST00000356956.1																			0				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						c.(916-918)tgC>tgT		insulin-like growth factor 2 receptor							86.0	83.0	84.0					6																	160453618		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160453618C>T	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.918C>T	6.37:g.160453618C>T							p.C306C	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	8	1066	+		Breast(66;0.000777)|Ovarian(120;0.0305)	306					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.918C>T	CCDS5273.1																																																																																				0.428	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	70	0	0	0	1	0	24	70				
HIF3A	64344	broad.mit.edu	37	19	46800349	46800349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46800349C>T	ENST00000377670.4	+	1	47	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	HIF3A_ENST00000472815.1_5'Flank|HIF3A_ENST00000244303.6_5'Flank|HIF3A_ENST00000339613.2_5'Flank	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	6					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCTGGGGCTGCAGCGCGCAAG	0.711																																						ENST00000377670.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(16-18)Cag>Tag		hypoxia inducible factor 3, alpha subunit							15.0	21.0	19.0					19																	46800349		2100	4177	6277	SO:0001587	stop_gained	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46800349C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.16C>T	19.37:g.46800349C>T	ENSP00000366898:p.Gln6*						p.Q6*	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	1	47	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	6					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Nonsense_Mutation	SNP	ENST00000377670.4	37	c.16C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	35	5.588432	0.96590	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.9989	0.41916	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000244302:Q6X	Q	+	1	0	HIF3A	51492189	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	1.184000	0.32053	2.056000	0.61249	0.306000	0.20318	CAG		0.711	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			17	26	0	0	0	1	0	17	26				
ZFYVE20	64145	broad.mit.edu	37	3	15122291	15122291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:15122291C>T	ENST00000253699.3	-	10	1472	c.859G>A	c.(859-861)Gag>Aag	p.E287K	ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G206E|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E287K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	287	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCAACTTTCTCCATGCAAAGT	0.393																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(859-861)Gag>Aag		zinc finger, FYVE domain containing 20							173.0	175.0	175.0					3																	15122291		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15122291C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.859G>A	3.37:g.15122291C>T	ENSP00000253699:p.Glu287Lys					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E287K|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G206E|ZFYVE20_ENST00000449964.2_5'UTR	p.E287K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			10	1472	-			287			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.859G>A	CCDS2623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.746586|3.746586	0.69418|0.69418	.|.	.|.	ENSG00000131381|ENSG00000131381	ENST00000253699;ENST00000476527|ENST00000435849	T;T|T	0.52754|0.73575	0.65;0.65|-0.76	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.103704|.	0.64402|.	D|.	0.000005|.	D|D	0.83326|0.83326	0.5230|0.5230	L|L	0.52759|0.52759	1.655|1.655	0.37662|0.37662	D|D	0.922792|0.922792	P|D	0.36282|0.89917	0.546|1.0	B|D	0.26770|0.87578	0.073|0.998	T|T	0.82684|0.82684	-0.0335|-0.0335	10|9	0.39692|0.33141	T|T	0.17|0.24	-8.9097|-8.9097	19.3182|19.3182	0.94224|0.94224	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	287|206	Q9H1K0|B4DWY8	RBNS5_HUMAN|.	K|E	287|206	ENSP00000253699:E287K;ENSP00000422551:E287K|ENSP00000391039:G206E	ENSP00000253699:E287K|ENSP00000391039:G206E	E|G	-|-	1|2	0|0	ZFYVE20|ZFYVE20	15097295|15097295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.500000|7.500000	0.81588|0.81588	2.548000|2.548000	0.85928|0.85928	0.585000|0.585000	0.79938|0.79938	GAG|GGA		0.393	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		10	89	0	0	0	1	0	10	89				
EOMES	8320	broad.mit.edu	37	3	27758565	27758565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:27758565G>A	ENST00000295743.4	-	6	2260	c.2057C>T	c.(2056-2058)cCc>cTc	p.P686L	EOMES_ENST00000537516.1_Missense_Mutation_p.P410L|EOMES_ENST00000449599.1_Missense_Mutation_p.P705L|EOMES_ENST00000461503.1_5'Flank			O95936	EOMES_HUMAN	eomesodermin	686	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AACTCTTTAGGGAGTTGTGTA	0.368																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(2056-2058)cCc>cTc		eomesodermin							92.0	91.0	91.0					3																	27758565		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27758565G>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.2057C>T	3.37:g.27758565G>A	ENSP00000295743:p.Pro686Leu					EOMES_ENST00000537516.1_Missense_Mutation_p.P410L|EOMES_ENST00000449599.1_Missense_Mutation_p.P705L	p.P686L			O95936	EOMES_HUMAN			6	2260	-			686			Required for transcription activation (By similarity).		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.2057C>T	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744217	0.69418	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.88975	-2.43;-2.45;-1.85	4.34	4.34	0.51931	.	0.166869	0.53938	D	0.000052	D	0.90266	0.6956	L	0.36672	1.1	0.80722	D	1	D;P;P	0.62365	0.991;0.944;0.906	P;P;P	0.58013	0.831;0.714;0.521	D	0.91872	0.5508	10	0.87932	D	0	.	17.7465	0.88422	0.0:0.0:1.0:0.0	.	419;705;686	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	L	686;705;410;570	ENSP00000295743:P686L;ENSP00000388620:P705L;ENSP00000442097:P410L	ENSP00000295743:P686L	P	-	2	0	EOMES	27733569	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.532000	0.81985	2.337000	0.79520	0.563000	0.77884	CCC		0.368	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		4	89	0	0	0	1	0	4	89				
RUNX2	860	broad.mit.edu	37	6	45480115	45480115	+	Missense_Mutation	SNP	C	C	T	rs114554762		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:45480115C>T	ENST00000371438.1	+	6	1350	c.992C>T	c.(991-993)gCc>gTc	p.A331V	RUNX2_ENST00000371432.3_Missense_Mutation_p.A317V|RUNX2_ENST00000359524.5_Missense_Mutation_p.A317V|RUNX2_ENST00000352853.5_Missense_Mutation_p.A399V|RUNX2_ENST00000465038.2_Missense_Mutation_p.A331V|RUNX2_ENST00000541979.1_Missense_Mutation_p.A399V|RUNX2_ENST00000576263.1_Missense_Mutation_p.A331V|RUNX2_ENST00000371436.6_Missense_Mutation_p.A331V	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	331	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCTTCCTGCCATCACCGAT	0.587																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(991-993)gCc>gTc		runt-related transcription factor 2							122.0	99.0	107.0					6																	45480115		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45480115C>T	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.992C>T	6.37:g.45480115C>T	ENSP00000360493:p.Ala331Val					RUNX2_ENST00000541979.1_Missense_Mutation_p.A399V|RUNX2_ENST00000359524.5_Missense_Mutation_p.A317V|RUNX2_ENST00000576263.1_Missense_Mutation_p.A331V|RUNX2_ENST00000465038.2_Missense_Mutation_p.A331V|RUNX2_ENST00000371436.6_Missense_Mutation_p.A331V|RUNX2_ENST00000371432.3_Missense_Mutation_p.A317V|RUNX2_ENST00000352853.5_Missense_Mutation_p.A399V	p.A331V	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			6	1350	+			331			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.992C>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941901	0.73557	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	6.06	5.19	0.71726	.	0.184657	0.64402	N	0.000016	T	0.69513	0.3119	L	0.50333	1.59	0.53688	D	0.999972	B;B;P	0.43826	0.452;0.394;0.818	B;B;B	0.39840	0.164;0.164;0.311	T	0.74760	-0.3556	10	0.56958	D	0.05	-11.691	16.7859	0.85574	0.13:0.87:0.0:0.0	.	399;331;317	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	V	331;399;399;331;331;317;317	ENSP00000420707:A331V;ENSP00000319087:A399V;ENSP00000446290:A399V;ENSP00000360493:A331V;ENSP00000360491:A331V;ENSP00000352514:A317V;ENSP00000360486:A317V	ENSP00000319087:A399V	A	+	2	0	RUNX2	45588093	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.422000	0.80217	1.553000	0.49476	-0.188000	0.12872	GCC		0.587	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		12	51	0	0	0	1	0	12	51				
HHATL	57467	broad.mit.edu	37	3	42734291	42734291	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:42734291G>A	ENST00000441594.1	-	12	1728	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	HHATL_ENST00000310417.5_Silent_p.T489T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	489					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCAGTGCCAAGGTTCGCTCAC	0.587																																						ENST00000441594.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19						c.(1465-1467)acC>acT		hedgehog acyltransferase-like							105.0	85.0	92.0					3																	42734291		2203	4300	6503	SO:0001819	synonymous_variant	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42734291G>A	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1467C>T	3.37:g.42734291G>A						HHATL_ENST00000310417.5_Silent_p.T489T	p.T489T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	12	1728	-			489					Q8TBG3|Q9ULP7	Silent	SNP	ENST00000441594.1	37	c.1467C>T	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	g	5.887	0.347770	0.11126	.	.	ENSG00000010282	ENST00000426666	.	.	.	3.25	3.25	0.37280	.	.	.	.	.	T	0.26919	0.0659	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.14615	-1.0466	4	.	.	.	-13.3974	5.3961	0.16271	0.1122:0.0:0.688:0.1998	.	.	.	.	F	109	.	.	L	-	1	0	HHATL	42709295	0.980000	0.34600	0.629000	0.29254	0.298000	0.27526	1.793000	0.38764	1.681000	0.50988	0.177000	0.17058	CTT		0.587	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		6	31	0	0	0	1	0	6	31				
ASB6	140459	broad.mit.edu	37	9	132400641	132400641	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:132400641C>T	ENST00000277458.4	-	6	859	c.694G>A	c.(694-696)Gcc>Acc	p.A232T	ASB6_ENST00000450050.2_Missense_Mutation_p.A153T|ASB6_ENST00000277459.4_Silent_p.R195R|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	232					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				ATCATCTGGGCCTCCTCTTTG	0.612																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(694-696)Gcc>Acc		ankyrin repeat and SOCS box containing 6							68.0	73.0	71.0					9																	132400641		2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132400641C>T		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.694G>A	9.37:g.132400641C>T	ENSP00000277458:p.Ala232Thr					ASB6_ENST00000450050.2_Missense_Mutation_p.A153T|ASB6_ENST00000277459.4_Silent_p.R195R	p.A232T	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			6	859	-		Ovarian(14;0.00556)	232					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.694G>A	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663058	0.88251	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.72835	-0.69;0.62	4.45	4.45	0.53987	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	.	.	.	0.80722	D	1	P;D;D	0.54047	0.935;0.964;0.964	P;P;P	0.47673	0.457;0.554;0.457	T	0.74612	-0.3607	9	0.42905	T	0.14	-19.3404	16.2407	0.82405	0.0:1.0:0.0:0.0	.	153;232;232	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	T	232;153	ENSP00000277458:A232T;ENSP00000416172:A153T	ENSP00000277458:A232T	A	-	1	0	ASB6	131440462	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.891000	0.75639	2.288000	0.76882	0.462000	0.41574	GCC		0.612	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		4	59	0	0	0	1	0	4	59				
ATG9A	79065	broad.mit.edu	37	2	220087173	220087173	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220087173C>T	ENST00000409618.1	-	12	2288		c.e12-1		ATG9A_ENST00000396761.2_Splice_Site|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Splice_Site|ATG9A_ENST00000361242.4_Splice_Site			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A						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)				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)		GGCTCAGGGGCTATGAACGAA	0.572																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.e12-1		autophagy related 9A							43.0	48.0	47.0					2																	220087173		1957	4140	6097	SO:0001630	splice_region_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220087173C>T	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.1849-1G>A	2.37:g.220087173C>T						ATG9A_ENST00000409422.1_Splice_Site|ATG9A_ENST00000361242.4_Splice_Site|ATG9A_ENST00000396761.2_Splice_Site				Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	2288	-		Renal(207;0.0474)						Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Splice_Site	SNP	ENST00000409618.1	37		CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903447	0.72754	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2555	0.93944	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG9A	219795417	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	6.862000	0.75484	2.790000	0.95986	0.591000	0.81541	.		0.572	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	Intron	26	57	0	0	0	1	0	26	57				
NUP205	23165	broad.mit.edu	37	7	135310054	135310054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:135310054C>T	ENST00000285968.6	+	32	4648	c.4622C>T	c.(4621-4623)aCc>aTc	p.T1541I		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1541					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCTTACTCACCCCACAGCCT	0.413																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4621-4623)aCc>aTc		nucleoporin 205kDa							126.0	121.0	123.0					7																	135310054		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135310054C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4622C>T	7.37:g.135310054C>T	ENSP00000285968:p.Thr1541Ile						p.T1541I	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			32	4648	+			1541					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4622C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	8.128	0.782422	0.16189	.	.	ENSG00000155561	ENST00000285968	T	0.31247	1.5	5.85	4.96	0.65561	.	0.188646	0.56097	D	0.000033	T	0.31327	0.0793	L	0.44542	1.39	0.80722	D	1	B	0.18610	0.029	B	0.24701	0.055	T	0.02728	-1.1118	10	0.52906	T	0.07	-10.3438	15.8896	0.79286	0.0:0.8746:0.0:0.1254	.	1541	Q92621	NU205_HUMAN	I	1541	ENSP00000285968:T1541I	ENSP00000285968:T1541I	T	+	2	0	NUP205	134960594	0.409000	0.25368	0.136000	0.22124	0.354000	0.29330	1.195000	0.32186	0.829000	0.34733	-1.119000	0.02030	ACC		0.413	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			8	187	0	0	0	1	0	8	187				
ABL2	27	broad.mit.edu	37	1	179077163	179077163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:179077163G>A	ENST00000502732.1	-	12	3442	c.3239C>T	c.(3238-3240)tCa>tTa	p.S1080L	ABL2_ENST00000408940.3_Missense_Mutation_p.S1044L|ABL2_ENST00000344730.3_Missense_Mutation_p.S962L|ABL2_ENST00000507173.1_Missense_Mutation_p.S956L|ABL2_ENST00000367623.4_Missense_Mutation_p.S1059L|ABL2_ENST00000512653.1_Missense_Mutation_p.S1065L|ABL2_ENST00000504405.1_Missense_Mutation_p.S941L|ABL2_ENST00000511413.1_Missense_Mutation_p.S977L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1080	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTGTCTGCTGAGATTTTCTC	0.532			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(3238-3240)tCa>tTa		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						54.0	51.0	52.0					1																	179077163		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077163G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3239C>T	1.37:g.179077163G>A	ENSP00000427562:p.Ser1080Leu					ABL2_ENST00000512653.1_Missense_Mutation_p.S1065L|ABL2_ENST00000507173.1_Missense_Mutation_p.S956L|ABL2_ENST00000504405.1_Missense_Mutation_p.S941L|ABL2_ENST00000511413.1_Missense_Mutation_p.S977L|ABL2_ENST00000344730.3_Missense_Mutation_p.S962L|ABL2_ENST00000408940.3_Missense_Mutation_p.S1044L|ABL2_ENST00000367623.4_Missense_Mutation_p.S1059L	p.S1080L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	3442	-			1080			F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.3239C>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166469	0.57476	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.35	5.35	0.76521	F-actin binding (2);	0.201841	0.26029	N	0.026771	T	0.31888	0.0811	N	0.14661	0.345	0.41821	D	0.990028	P;P;P;B;P;P;P;B	0.37781	0.554;0.493;0.493;0.066;0.608;0.554;0.608;0.152	B;B;B;B;B;B;B;B	0.42771	0.145;0.109;0.215;0.074;0.397;0.276;0.227;0.074	T	0.24941	-1.0146	10	0.62326	D	0.03	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	1059;956;977;941;1080;1065;1044;962	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	L	1080;1044;962;1065;941;1059;956;977	ENSP00000427562:S1080L;ENSP00000386152:S1044L;ENSP00000339209:S962L;ENSP00000423578:S1065L;ENSP00000426831:S941L;ENSP00000356595:S1059L;ENSP00000423413:S956L;ENSP00000424697:S977L	ENSP00000339209:S962L	S	-	2	0	ABL2	177343786	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.428000	0.97476	2.655000	0.90218	0.655000	0.94253	TCA		0.532	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		4	44	0	0	0	1	0	4	44				
PROSC	11212	broad.mit.edu	37	8	37635515	37635515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:37635515C>T	ENST00000328195.3	+	8	788	c.721C>T	c.(721-723)Cga>Tga	p.R241*		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	241					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	TACAAATGTCCGAATAGGAAG	0.507																																						ENST00000328195.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(721-723)Cga>Tga		proline synthetase co-transcribed homolog (bacterial)	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						77.0	77.0	77.0					8																	37635515		2203	4300	6503	SO:0001587	stop_gained	11212						pyridoxal phosphate binding	g.chr8:37635515C>T	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.721C>T	8.37:g.37635515C>T	ENSP00000333551:p.Arg241*						p.R241*	NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		8	788	+		Lung NSC(58;0.174)	241					Q6FI94	Nonsense_Mutation	SNP	ENST00000328195.3	37	c.721C>T	CCDS6096.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384830	0.95967	.	.	ENSG00000147471	ENST00000328195;ENST00000517377	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.903	14.7675	0.69651	0.1799:0.8201:0.0:0.0	.	.	.	.	X	241;19	.	ENSP00000333551:R241X	R	+	1	2	PROSC	37754673	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.772000	0.38552	2.825000	0.97269	0.655000	0.94253	CGA		0.507	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		4	103	0	0	0	1	0	4	103				
CCDC121	79635	broad.mit.edu	37	2	27850587	27850587	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27850587C>T	ENST00000324364.3	-	2	260	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	GPN1_ENST00000610189.1_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.R189Q|GPN1_ENST00000458167.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000264718.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000407583.3_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	27										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TAACTTTTCTCGGTGTAGCTC	0.438																																						ENST00000324364.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14						c.(79-81)cGa>cAa		coiled-coil domain containing 121							107.0	114.0	111.0					2																	27850587		2203	4300	6503	SO:0001583	missense	79635							g.chr2:27850587C>T	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.80G>A	2.37:g.27850587C>T	ENSP00000339087:p.Arg27Gln					ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.R189Q	p.R27Q	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN			2	260	-	Acute lymphoblastic leukemia(172;0.155)		27					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.80G>A	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736527	0.15574	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	.	.	.	4.55	-9.1	0.00714	.	16.406600	0.00166	N	0.000000	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16364	-1.0405	9	0.13108	T	0.6	-14.8479	1.7413	0.02953	0.1595:0.2005:0.165:0.475	.	27	Q6ZUS5	CC121_HUMAN	Q	27;189	.	ENSP00000339087:R27Q	R	-	2	0	CCDC121	27704091	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.196000	0.01241	-1.745000	0.01337	-1.429000	0.01096	CGA		0.438	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		10	164	0	0	0	1	0	10	164				
PRSS58	136541	broad.mit.edu	37	7	141957487	141957487	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:141957487C>T	ENST00000552471.1	-	1	360		c.e1+1		PRSS58_ENST00000547058.2_Splice_Site			Q8IYP2	PRS58_HUMAN	protease, serine, 58							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CACACACTCACCAGTCAGATT	0.448																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.e1+1		protease, serine, 58							139.0	135.0	137.0					7																	141957487		2203	4300	6503	SO:0001630	splice_region_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141957487C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.40+1G>A	7.37:g.141957487C>T						PRSS58_ENST00000547058.2_Splice_Site				Q8IYP2	PRS58_HUMAN			1	360	-								B3KVJ6|D3DXD2	Splice_Site	SNP	ENST00000552471.1	37		CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	7.035	0.561334	0.13498	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.933	0.52857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS58	141603964	0.989000	0.36119	0.945000	0.38365	0.008000	0.06430	3.639000	0.54339	2.258000	0.74832	0.650000	0.86243	.		0.448	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	Intron	33	114	0	0	0	1	0	33	114				
NDUFS3	4722	broad.mit.edu	37	11	47603938	47603938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47603938C>T	ENST00000263774.4	+	6	627	c.545C>T	c.(544-546)cCt>cTt	p.P182L	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	182					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	GCTAACCACCCTGATCTAAGA	0.483																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(544-546)cCt>cTt		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						334.0	341.0	338.0					11																	47603938		2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47603938C>T	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.545C>T	11.37:g.47603938C>T	ENSP00000263774:p.Pro182Leu					NDUFS3_ENST00000533507.1_3'UTR	p.P182L	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			6	627	+			182					B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.545C>T	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325270	0.95708	.	.	ENSG00000213619	ENST00000263774	D	0.91407	-2.84	5.87	5.87	0.94306	NADH:ubiquinone oxidoreductase, 30kDa subunit (2);NADH:ubiquinone oxidoreductase, 30kDa subunit, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.982	D	0.98472	1.0601	10	0.87932	D	0	-12.8788	20.206	0.98277	0.0:1.0:0.0:0.0	.	182;108	O75489;Q9UF24	NDUS3_HUMAN;.	L	182	ENSP00000263774:P182L	ENSP00000263774:P182L	P	+	2	0	NDUFS3	47560514	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.474000	0.81024	2.785000	0.95823	0.655000	0.94253	CCT		0.483	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		20	268	0	0	0	1	0	20	268				
ZNF638	27332	broad.mit.edu	37	2	71577235	71577235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:71577235C>T	ENST00000409544.1	+	2	1781	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.P384L|ZNF638_ENST00000355812.3_Missense_Mutation_p.P384L|ZNF638_ENST00000264447.4_Missense_Mutation_p.P384L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	384					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATTCGGTCTCCCTTTGGTATT	0.403																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(1150-1152)cCc>cTc		zinc finger protein 638							138.0	134.0	135.0					2																	71577235		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71577235C>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1151C>T	2.37:g.71577235C>T	ENSP00000386433:p.Pro384Leu					ZNF638_ENST00000264447.4_Missense_Mutation_p.P384L|ZNF638_ENST00000377802.2_Missense_Mutation_p.P384L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.P384L	p.P384L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			2	1781	+			384					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1151C>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314226	0.60414	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.77877	-0.54;-1.13;-0.01;-0.54;0.97;0.97	5.85	5.85	0.93711	.	0.138662	0.50627	D	0.000111	T	0.81297	0.4793	N	0.24115	0.695	0.54753	D	0.999984	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.996;0.999;0.997;0.996	T	0.83245	-0.0056	10	0.87932	D	0	-5.6636	15.6808	0.77367	0.0:1.0:0.0:0.0	.	490;384;384;384;384	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	L	384;490;384;384;384;384	ENSP00000386669:P384L;ENSP00000438189:P490L;ENSP00000348066:P384L;ENSP00000367033:P384L;ENSP00000264447:P384L;ENSP00000386433:P384L	ENSP00000264447:P384L	P	+	2	0	ZNF638	71430743	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.246000	0.58740	2.782000	0.95742	0.655000	0.94253	CCC		0.403	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		8	136	0	0	0	1	0	8	136				
NID2	22795	broad.mit.edu	37	14	52520296	52520296	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:52520296C>T	ENST00000216286.5	-	5	1429		c.e5+1		NID2_ENST00000541773.1_Splice_Site	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)						basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AATGCACTCACCCTCGGTGTT	0.448																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.e5+1		nidogen 2 (osteonidogen)							169.0	175.0	173.0					14																	52520296		2203	4300	6503	SO:0001630	splice_region_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520296C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1429+1G>A	14.37:g.52520296C>T						NID2_ENST00000541773.1_Splice_Site		NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			5	1429	-	Breast(41;0.0639)|all_epithelial(31;0.123)							A8K6I7|B4DU19|O43710	Splice_Site	SNP	ENST00000216286.5	37		CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482197	0.26598	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4844	0.50344	0.1789:0.821:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NID2	51590046	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	4.913000	0.63341	2.778000	0.95560	0.655000	0.94253	.		0.448	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		Intron	6	134	0	0	0	1	0	6	134				
SPEF2	79925	broad.mit.edu	37	5	35753776	35753776	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:35753776G>A	ENST00000356031.3	+	24	3535	c.3381G>A	c.(3379-3381)gcG>gcA	p.A1127A	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.A1122A	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1127					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.A1127A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAAGAGGCGGAGCAGGAGC	0.493																																						ENST00000440995.2																			2	Substitution - coding silent(2)	p.A1127A(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3364-3366)gcG>gcA		sperm flagellar 2							133.0	137.0	136.0					5																	35753776		1921	4143	6064	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35753776G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3381G>A	5.37:g.35753776G>A						CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.A1127A	p.A1122A			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		24	3366	+	all_lung(31;7.56e-05)		1127					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.3366G>A	CCDS43309.1																																																																																				0.493	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		15	102	0	0	0	1	0	15	102				
C6orf10	10665	broad.mit.edu	37	6	32261203	32261203	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:32261203C>T	ENST00000447241.2	-	23	1419	c.1247G>A	c.(1246-1248)aGt>aAt	p.S416N	C6orf10_ENST00000375007.4_Missense_Mutation_p.S414N|C6orf10_ENST00000375015.4_Missense_Mutation_p.S415N|C6orf10_ENST00000533191.1_Missense_Mutation_p.S414N|C6orf10_ENST00000527965.1_Missense_Mutation_p.S400N|C6orf10_ENST00000442822.2_Missense_Mutation_p.S407N	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	416						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTTCAACTCACTCTTCTCTAC	0.483																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1243-1245)aGt>aAt		chromosome 6 open reading frame 10							138.0	159.0	151.0					6																	32261203		1508	2708	4216	SO:0001583	missense	10665					integral to membrane		g.chr6:32261203C>T	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1247G>A	6.37:g.32261203C>T	ENSP00000415517:p.Ser416Asn					C6orf10_ENST00000447241.2_Missense_Mutation_p.S416N|C6orf10_ENST00000527965.1_Missense_Mutation_p.S400N|C6orf10_ENST00000533191.1_Missense_Mutation_p.S414N|C6orf10_ENST00000375007.4_Missense_Mutation_p.S414N|C6orf10_ENST00000442822.2_Missense_Mutation_p.S407N	p.S415N			Q5SRN2	CF010_HUMAN			26	1444	-			416					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1244G>A	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451972	0.63290	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.04454	3.69;3.64;3.67;3.62;3.63;3.62	3.38	1.31	0.21738	.	.	.	.	.	T	0.05868	0.0153	L	0.55481	1.735	0.09310	N	1	D;D	0.69078	0.989;0.997	D;D	0.79784	0.969;0.993	T	0.27157	-1.0082	9	0.51188	T	0.08	-12.4317	6.2908	0.21059	0.0:0.4074:0.4769:0.1157	.	416;407	Q5SRN2;C9J9T8	CF010_HUMAN;.	N	407;416;415;414;400;414;413;413	ENSP00000411164:S407N;ENSP00000415517:S416N;ENSP00000364155:S415N;ENSP00000431199:S414N;ENSP00000435103:S400N;ENSP00000364146:S414N	ENSP00000303292:S413N	S	-	2	0	C6orf10	32369181	0.006000	0.16342	0.003000	0.11579	0.720000	0.41350	-0.776000	0.04674	0.261000	0.21753	0.555000	0.69702	AGT		0.483	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		8	150	0	0	0	1	0	8	150				
CENPF	1063	broad.mit.edu	37	1	214830638	214830638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:214830638C>T	ENST00000366955.3	+	18	9016	c.8848C>T	c.(8848-8850)Cca>Tca	p.P2950S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3046	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACCTGCTACCCCAGAGAGCTT	0.458																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(8848-8850)Cca>Tca		centromere protein F, 350/400kDa							54.0	53.0	54.0					1																	214830638		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214830638C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8848C>T	1.37:g.214830638C>T	ENSP00000355922:p.Pro2950Ser						p.P2950S	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	18	9016	+			3046			Sufficient for centromere localization.|Sufficient for nuclear localization.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.8848C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637557	0.67130	.	.	ENSG00000117724	ENST00000366955	T	0.03580	3.88	5.6	4.68	0.58851	.	0.225081	0.22867	N	0.054670	T	0.09379	0.0231	M	0.69823	2.125	0.27539	N	0.950841	D	0.61697	0.99	P	0.48304	0.573	T	0.04961	-1.0915	10	0.87932	D	0	.	12.6647	0.56835	0.1307:0.7435:0.1258:0.0	.	3046	P49454	CENPF_HUMAN	S	2950	ENSP00000355922:P2950S	ENSP00000355922:P2950S	P	+	1	0	CENPF	212897261	0.980000	0.34600	0.423000	0.26634	0.041000	0.13682	2.572000	0.45999	1.470000	0.48102	0.650000	0.86243	CCA		0.458	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		6	24	0	0	0	1	0	6	24				
NFKBIA	4792	broad.mit.edu	37	14	35872958	35872958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:35872958C>T	ENST00000216797.5	-	2	375	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	NFKBIA_ENST00000557140.1_Missense_Mutation_p.E92K|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Missense_Mutation_p.E2K	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	92					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	CGGATCACTTCCATGGTCAGT	0.607																																						ENST00000216797.5																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.(274-276)Gaa>Aaa		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha							82.0	68.0	73.0					14																	35872958		2203	4300	6503	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35872958C>T		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.274G>A	14.37:g.35872958C>T	ENSP00000216797:p.Glu92Lys					NFKBIA_ENST00000557389.1_Missense_Mutation_p.E2K|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E92K|NFKBIA_ENST00000557100.1_5'UTR	p.E92K	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	2	375	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		92					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.274G>A	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019077	0.93462	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389;ENST00000553342	T;T;T;T	0.79845	-0.02;-0.02;1.01;-1.31	5.93	5.93	0.95920	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.70141	0.3190	L	0.31157	0.91	0.46798	D	0.999201	P;B	0.37731	0.607;0.202	B;B	0.30782	0.12;0.023	T	0.67654	-0.5615	9	0.15499	T	0.54	-6.8671	20.3363	0.98740	0.0:1.0:0.0:0.0	.	92;92	G3V3I4;P25963	.;IKBA_HUMAN	K	92;92;2;68	ENSP00000216797:E92K;ENSP00000451257:E92K;ENSP00000450514:E2K;ENSP00000451281:E68K	ENSP00000216797:E92K	E	-	1	0	NFKBIA	34942709	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.034000	0.41145	2.814000	0.96858	0.563000	0.77884	GAA		0.607	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		7	28	0	0	0	1	0	7	28				
CNOT3	4849	broad.mit.edu	37	19	54653376	54653376	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:54653376C>T	ENST00000406403.1	+	12	3091	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L	CNOT3_ENST00000221232.5_Silent_p.L496L|CNOT3_ENST00000358389.3_Silent_p.L315L			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	496	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GACCCAGCCTCCTGGTGCCAC	0.657																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1486-1488)ctC>ctT		CCR4-NOT transcription complex, subunit 3							42.0	39.0	40.0					19																	54653376		2203	4300	6503	SO:0001819	synonymous_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54653376C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1488C>T	19.37:g.54653376C>T						CNOT3_ENST00000221232.5_Silent_p.L496L|CNOT3_ENST00000358389.3_Silent_p.L315L	p.L496L			O75175	CNOT3_HUMAN			12	3091	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		496			Pro-rich.		Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	c.1488C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392868	0.25118	.	.	ENSG00000088038	ENST00000457463	.	.	.	4.96	2.6	0.31112	.	.	.	.	.	T	0.58509	0.2127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55121	-0.8190	4	.	.	.	-19.6666	9.2712	0.37673	0.1506:0.5563:0.2931:0.0	.	.	.	.	S	28	.	.	P	+	1	0	CNOT3	59345188	0.993000	0.37304	1.000000	0.80357	0.967000	0.64934	0.281000	0.18810	1.182000	0.42928	0.655000	0.94253	CCT		0.657	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		9	17	0	0	0	1	0	9	17				
PRRC2C	23215	broad.mit.edu	37	1	171510229	171510229	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:171510229G>A	ENST00000338920.4	+	16	3855	c.3618G>A	c.(3616-3618)ggG>ggA	p.G1206G	PRRC2C_ENST00000392078.3_Silent_p.G1208G|PRRC2C_ENST00000367742.3_Silent_p.G1208G|PRRC2C_ENST00000426496.2_Silent_p.G1206G	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1206					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CTTATGGAGGGCGTGGCAGGG	0.507																																						ENST00000367742.3																			0											c.(3622-3624)ggG>ggA		proline-rich coiled-coil 2C							92.0	96.0	95.0					1																	171510229		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171510229G>A	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.3618G>A	1.37:g.171510229G>A						PRRC2C_ENST00000392078.3_Silent_p.G1208G|PRRC2C_ENST00000338920.4_Silent_p.G1206G|PRRC2C_ENST00000426496.2_Silent_p.G1206G	p.G1208G			Q9Y520	PRC2C_HUMAN			16	3866	+			1206					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.3624G>A	CCDS1296.2																																																																																				0.507	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		18	45	0	0	0	1	0	18	45				
CDKAL1	54901	broad.mit.edu	37	6	21201422	21201422	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:21201422G>A	ENST00000378610.1	+	13	1475	c.1465G>A	c.(1465-1467)Ggg>Agg	p.G489R	CDKAL1_ENST00000274695.4_Missense_Mutation_p.G489R|CDKAL1_ENST00000378624.4_Missense_Mutation_p.G398R|CDKAL1_ENST00000476517.1_3'UTR			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	489	TRAM. {ECO:0000255|PROSITE- ProRule:PRU00208}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTTTATGAAAGGGCAGCCAGT	0.443																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(1465-1467)Ggg>Agg		CDK5 regulatory subunit associated protein 1-like 1							124.0	115.0	118.0					6																	21201422		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:21201422G>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1465G>A	6.37:g.21201422G>A	ENSP00000367873:p.Gly489Arg					CDKAL1_ENST00000378610.1_Missense_Mutation_p.G489R|CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Missense_Mutation_p.G398R	p.G489R	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		15	1632	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		489			TRAM.		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.1465G>A	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005748	0.93287	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.64991	-0.13;-0.13;-0.13	6.17	6.17	0.99709	Deoxyribonuclease/rho motif-related TRAM (2);	0.000000	0.85682	D	0.000000	T	0.81059	0.4744	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.995;0.997	T	0.81754	-0.0788	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	398;489	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	R	489;398;489	ENSP00000274695:G489R;ENSP00000367889:G398R;ENSP00000367873:G489R	ENSP00000274695:G489R	G	+	1	0	CDKAL1	21309401	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.199000	0.95003	2.941000	0.99782	0.655000	0.94253	GGG		0.443	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		33	63	0	0	0	1	0	33	63				
RERE	473	broad.mit.edu	37	1	8420738	8420738	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:8420738C>T	ENST00000337907.3	-	19	3463	c.2829G>A	c.(2827-2829)caG>caA	p.Q943Q	RERE_ENST00000400908.2_Silent_p.Q943Q|RERE_ENST00000377464.1_Silent_p.Q675Q|RERE_ENST00000476556.1_Silent_p.Q389Q|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	943	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCTTGTGGGCCTGTGGCGCCG	0.692																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2827-2829)caG>caA		arginine-glutamic acid dipeptide (RE) repeats							22.0	27.0	25.0					1																	8420738		2190	4278	6468	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8420738C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2829G>A	1.37:g.8420738C>T						RERE_ENST00000400908.2_Silent_p.Q943Q|RERE_ENST00000377464.1_Silent_p.Q675Q|RERE_ENST00000476556.1_Silent_p.Q389Q|RERE_ENST00000400907.2_Intron	p.Q943Q	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	3463	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	943			Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.2829G>A	CCDS95.1																																																																																				0.692	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			21	10	0	0	0	1	0	21	10				
TYW3	127253	broad.mit.edu	37	1	75218022	75218022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:75218022G>A	ENST00000370867.3	+	5	562	c.473G>A	c.(472-474)gGa>gAa	p.G158E	TYW3_ENST00000457880.2_Missense_Mutation_p.G125E|TYW3_ENST00000479111.1_Missense_Mutation_p.G38E|TYW3_ENST00000421739.2_Missense_Mutation_p.G74E	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	158					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AGCCATAAGGGAAAACTGATG	0.353																																						ENST00000370867.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						c.(472-474)gGa>gAa		tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)							84.0	89.0	87.0					1																	75218022		2203	4300	6503	SO:0001583	missense	127253				tRNA processing		methyltransferase activity	g.chr1:75218022G>A	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.473G>A	1.37:g.75218022G>A	ENSP00000359904:p.Gly158Glu					TYW3_ENST00000457880.2_Missense_Mutation_p.G125E|TYW3_ENST00000421739.2_Missense_Mutation_p.G74E|TYW3_ENST00000479111.1_3'UTR	p.G158E	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN			5	562	+			158					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	c.473G>A	CCDS666.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203184	0.79127	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T;T	0.28454	1.61;1.61;1.61	5.78	5.78	0.91487	tRNA wybutosine-synthesizing protein (2);	0.046855	0.85682	D	0.000000	T	0.53850	0.1822	M	0.84585	2.705	0.53005	D	0.999968	D;D;D	0.89917	0.97;1.0;0.999	P;D;D	0.91635	0.881;0.999;0.993	T	0.54925	-0.8220	10	0.45353	T	0.12	-20.7842	16.9379	0.86208	0.0:0.0:1.0:0.0	.	74;125;158	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	E	125;158;74	ENSP00000407025:G125E;ENSP00000359904:G158E;ENSP00000409336:G74E	ENSP00000359904:G158E	G	+	2	0	TYW3	74990610	1.000000	0.71417	0.990000	0.47175	0.531000	0.34715	8.056000	0.89455	2.741000	0.93983	0.555000	0.69702	GGA		0.353	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		7	72	0	0	0	1	0	7	72				
DNAH7	56171	broad.mit.edu	37	2	196892683	196892683	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:196892683C>T	ENST00000312428.6	-	6	587		c.e6+1		DNAH7_ENST00000410072.1_Splice_Site	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGCCAGTTACCAAGATGTCT	0.393																																						ENST00000312428.6																			0				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						c.e6+1		dynein, axonemal, heavy chain 7							177.0	170.0	172.0					2																	196892683		1829	4087	5916	SO:0001630	splice_region_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196892683C>T	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.486+1G>A	2.37:g.196892683C>T						DNAH7_ENST00000410072.1_Splice_Site		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			6	587	-								B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	ENST00000312428.6	37		CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981896	0.53827	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8617	0.79026	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH7	196600928	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.938000	0.63519	2.462000	0.83206	0.655000	0.94253	.		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	Intron	13	113	0	0	0	1	0	13	113				
ZNF23	7571	broad.mit.edu	37	16	71483352	71483352	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:71483352C>T	ENST00000393539.2	-	6	1389	c.576G>A	c.(574-576)gaG>gaA	p.E192E	ZNF23_ENST00000428724.2_Silent_p.E134E|ZNF23_ENST00000417828.1_Silent_p.E192E|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000357254.4_Silent_p.E192E|ZNF23_ENST00000564528.1_Silent_p.E134E	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		AAGGCTTTTCCTCAGTGTTGT	0.378																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(574-576)gaG>gaA		zinc finger protein 23							80.0	84.0	83.0					16																	71483352		2198	4300	6498	SO:0001819	synonymous_variant	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483352C>T	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.576G>A	16.37:g.71483352C>T						AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Silent_p.E192E|ZNF23_ENST00000564528.1_Silent_p.E134E|ZNF23_ENST00000539742.1_5'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000428724.2_Silent_p.E134E|ZNF23_ENST00000357254.4_Silent_p.E192E	p.E192E	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1389	-		Ovarian(137;0.00768)	192					Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	ENST00000393539.2	37	c.576G>A	CCDS10900.1																																																																																				0.378	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		49	68	0	0	0	1	0	49	68				
SYNJ1	8867	broad.mit.edu	37	21	34011331	34011331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:34011331C>T	ENST00000322229.7	-	30	3801	c.3802G>A	c.(3802-3804)Gca>Aca	p.A1268T	SYNJ1_ENST00000382499.2_Missense_Mutation_p.A1307T|SYNJ1_ENST00000357345.3_Missense_Mutation_p.A1252T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A1307T|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A1221T			O43426	SYNJ1_HUMAN	synaptojanin 1	1268	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATAGGTGCTGCCACAGGGACA	0.557																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(3919-3921)Gca>Aca		synaptojanin 1							143.0	154.0	150.0					21																	34011331		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34011331C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3802G>A	21.37:g.34011331C>T	ENSP00000322234:p.Ala1268Thr					SYNJ1_ENST00000357345.3_Missense_Mutation_p.A1252T|SYNJ1_ENST00000322229.7_Missense_Mutation_p.A1268T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A1307T|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A1221T	p.A1307T	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			31	3918	-			1268			Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.3919G>A	CCDS54484.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.56|10.56|10.56	1.383583|1.383583|1.383583	0.25031|0.25031|0.25031	.|.|.	.|.|.	ENSG00000159082|ENSG00000159082|ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229|ENST00000438952;ENST00000416083|ENST00000418301	D;D;D;D;D|.|.	0.93906|.|.	-2.72;-3.31;-3.29;-2.52;-2.52|.|.	5.4|5.4|5.4	-0.243|-0.243|-0.243	0.13035|0.13035|0.13035	.|.|.	0.512402|.|.	0.22357|.|.	N|.|.	0.061134|.|.	T|T|.	0.35189|0.35189|.	0.0923|0.0923|.	L|L|L	0.31926|0.31926|0.31926	0.97|0.97|0.97	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B;B;B;B|.|.	0.06786|.|.	0.001;0.0;0.001;0.001;0.001|.|.	B;B;B;B;B|.|.	0.11329|.|.	0.005;0.0;0.003;0.002;0.006|.|.	T|T|.	0.32851|0.32851|.	-0.9891|-0.9891|.	10|5|.	0.33141|.|.	T|.|.	0.24|.|.	.|.|.	12.213|12.213|12.213	0.54389|0.54389|0.54389	0.0:0.7191:0.0:0.2809|0.0:0.7191:0.0:0.2809|0.0:0.7191:0.0:0.2809	.|.|.	1221;1307;1268;1268;1252|.|.	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4|.|.	.;.;.;SYNJ1_HUMAN;.|.|.	T|D|X	1221;1252;1307;1307;1268|143;120|88	ENSP00000371931:A1221T;ENSP00000349903:A1252T;ENSP00000371939:A1307T;ENSP00000409667:A1307T;ENSP00000322234:A1268T|.|.	ENSP00000322234:A1268T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	SYNJ1|SYNJ1|SYNJ1	32933202|32933202|32933202	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.002000|0.002000|0.002000	0.10522|0.10522|0.10522	0.470000|0.470000|0.470000	0.32858|0.32858|0.32858	-0.394000|-0.394000|-0.394000	0.07296|0.07296|0.07296	-0.013000|-0.013000|-0.013000	0.14199|0.14199|0.14199	-0.140000|-0.140000|-0.140000	0.14226|0.14226|0.14226	GCA|GGC|TGG		0.557	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	136	0	0	0	1	0	10	136				
TCAIM	285343	broad.mit.edu	37	3	44399255	44399255	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:44399255C>T	ENST00000342649.4	+	3	479	c.52C>T	c.(52-54)Cca>Tca	p.P18S	TCAIM_ENST00000383746.3_Missense_Mutation_p.P18S|TCAIM_ENST00000417237.1_Missense_Mutation_p.P18S|TCAIM_ENST00000396078.3_Missense_Mutation_p.P18S	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	18						mitochondrion (GO:0005739)											GAAGATATTTCCACACTGGTT	0.393																																						ENST00000342649.4																			0											c.(52-54)Cca>Tca		T cell activation inhibitor, mitochondrial							122.0	115.0	117.0					3																	44399255		2203	4300	6503	SO:0001583	missense	285343							g.chr3:44399255C>T		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.52C>T	3.37:g.44399255C>T	ENSP00000341539:p.Pro18Ser					TCAIM_ENST00000417237.1_Missense_Mutation_p.P18S|TCAIM_ENST00000396078.3_Missense_Mutation_p.P18S|TCAIM_ENST00000383746.3_Missense_Mutation_p.P18S	p.P18S	NM_173826.3	NP_776187.2					3	479	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.52C>T	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616780	0.46736	.	.	ENSG00000179152	ENST00000383746;ENST00000417237;ENST00000396078;ENST00000342649	T;T;T;T	0.44482	0.92;0.99;0.92;0.99	5.68	3.91	0.45181	.	0.175294	0.49916	N	0.000126	T	0.31358	0.0794	L	0.47716	1.5	0.09310	N	1	B;B	0.32753	0.383;0.103	B;B	0.23275	0.045;0.025	T	0.10683	-1.0619	10	0.28530	T	0.3	.	11.0919	0.48121	0.0:0.869:0.0:0.131	.	18;18	Q8N3R3;Q8N3R3-3	CC023_HUMAN;.	S	18	ENSP00000373252:P18S;ENSP00000402581:P18S;ENSP00000379388:P18S;ENSP00000341539:P18S	ENSP00000341539:P18S	P	+	1	0	C3orf23	44374259	0.059000	0.20769	0.013000	0.15412	0.573000	0.36030	1.667000	0.37471	0.759000	0.33084	-0.484000	0.04775	CCA		0.393	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		13	63	0	0	0	1	0	13	63				
AGAP7P	653268	broad.mit.edu	37	10	51465415	51465415	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51465415C>T	ENST00000374095.5	-	7	1166	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		347	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						AGTCACCCAGCCCGGTGTCCA	0.552																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1039-1041)ggG>ggA		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							93.0	111.0	105.0					10																	51465415		2202	4296	6498	SO:0001819	synonymous_variant	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465415C>T																												ENST00000374095.5:c.1041G>A	10.37:g.51465415C>T							p.G347G	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1166	-			347			PH.		A6NGH4	Silent	SNP	ENST00000374095.5	37	c.1041G>A	CCDS41524.1																																																																																				0.552	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			73	109	0	0	0	1	0	73	109				
LDHAL6A	160287	broad.mit.edu	37	11	18497048	18497048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:18497048G>A	ENST00000280706.2	+	4	1251	c.454G>A	c.(454-456)Gga>Aga	p.G152R	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.G152R	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	152					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						GAAGTTGAGTGGATTTCCCAA	0.383																																						ENST00000280706.2																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(454-456)Gga>Aga		lactate dehydrogenase A-like 6A	NADH(DB00157)						189.0	184.0	186.0					11																	18497048		2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18497048G>A	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.454G>A	11.37:g.18497048G>A	ENSP00000280706:p.Gly152Arg					TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.G152R	p.G152R	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN			4	1251	+			152					D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.454G>A	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889469	0.72524	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.94280	-3.39;-3.39	4.05	3.14	0.36123	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.440633	0.21005	U	0.081791	D	0.96787	0.8951	H	0.97390	3.995	0.51767	D	0.999934	P	0.39044	0.656	P	0.50440	0.641	D	0.96162	0.9116	10	0.87932	D	0	.	9.3823	0.38322	0.1091:0.0:0.8909:0.0	.	152	Q6ZMR3	LDH6A_HUMAN	R	152	ENSP00000379516:G152R;ENSP00000280706:G152R	ENSP00000280706:G152R	G	+	1	0	LDHAL6A	18453624	1.000000	0.71417	0.002000	0.10522	0.854000	0.48673	6.796000	0.75145	0.694000	0.31654	0.491000	0.48974	GGA		0.383	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		33	23	0	0	0	1	0	33	23				
DNAH8	1769	broad.mit.edu	37	6	38893844	38893844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:38893844G>A	ENST00000359357.3	+	72	10579	c.10325G>A	c.(10324-10326)gGg>gAg	p.G3442E	DNAH8_ENST00000449981.2_Missense_Mutation_p.G3659E|DNAH8_ENST00000441566.1_Missense_Mutation_p.G3406E|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3442	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTGAGTGGGGGCTACAGGGA	0.413																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10324-10326)gGg>gAg		dynein, axonemal, heavy chain 8							135.0	134.0	135.0					6																	38893844		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38893844G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10325G>A	6.37:g.38893844G>A	ENSP00000352312:p.Gly3442Glu					RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3659E|DNAH8_ENST00000441566.1_Missense_Mutation_p.G3406E|RP1-207H1.3_ENST00000418399.1_RNA	p.G3442E							72	10579	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10325G>A		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278065	0.59758	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.52295	0.67;0.67;0.67	5.86	5.86	0.93980	.	0.115170	0.53938	D	0.000059	T	0.21590	0.0520	N	0.21282	0.65	0.39004	D	0.959401	B	0.32893	0.389	B	0.36766	0.232	T	0.16541	-1.0399	10	0.59425	D	0.04	.	7.6917	0.28571	0.1912:0.0:0.8088:0.0	.	3442	Q96JB1	DYH8_HUMAN	E	3647;3647;3442;3406	ENSP00000333363:G3647E;ENSP00000352312:G3442E;ENSP00000402294:G3406E	ENSP00000333363:G3647E	G	+	2	0	DNAH8	39001822	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.792000	0.62467	2.776000	0.95493	0.650000	0.86243	GGG		0.413	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	93	0	0	0	1	0	5	93				
USP28	57646	broad.mit.edu	37	11	113670104	113670104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113670104G>A	ENST00000003302.4	-	25	3160	c.3092C>T	c.(3091-3093)cCc>cTc	p.P1031L	USP28_ENST00000260188.5_Missense_Mutation_p.P999L|USP28_ENST00000544967.1_Missense_Mutation_p.P707L|USP28_ENST00000545540.1_Missense_Mutation_p.P874L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1031					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)			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)		TAGAAGTCTGGGTAGAAACTC	0.443																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				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						c.(3091-3093)cCc>cTc		ubiquitin specific peptidase 28							91.0	96.0	94.0					11																	113670104		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113670104G>A	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.3092C>T	11.37:g.113670104G>A	ENSP00000003302:p.Pro1031Leu					USP28_ENST00000544967.1_Missense_Mutation_p.P707L|USP28_ENST00000260188.5_Missense_Mutation_p.P999L|USP28_ENST00000545540.1_Missense_Mutation_p.P874L	p.P1031L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	25	3160	-		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)	1031					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.3092C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049683	0.93740	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.55234	1.06;1.1;0.53;1.12	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72326	0.3446	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.72982	0.937;0.979;0.971	T	0.74315	-0.3705	10	0.87932	D	0	-15.8918	19.571	0.95419	0.0:0.0:1.0:0.0	.	874;1031;707	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	L	1031;999;707;874	ENSP00000003302:P1031L;ENSP00000260188:P999L;ENSP00000442431:P707L;ENSP00000444991:P874L	ENSP00000003302:P1031L	P	-	2	0	USP28	113175314	1.000000	0.71417	0.951000	0.38953	0.941000	0.58515	9.305000	0.96197	2.709000	0.92574	0.655000	0.94253	CCC		0.443	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			27	71	0	0	0	1	0	27	71				
NBPF1	55672	broad.mit.edu	37	1	16892934	16892934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16892934C>T	ENST00000430580.2	-	26	3747	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_Intron	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	954	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTCTTCCACTTCTTGGTAC	0.433																																						ENST00000430580.2																			0											c.(2860-2862)Gtg>Atg		neuroblastoma breakpoint family, member 1							235.0	218.0	224.0					1																	16892934		1389	2404	3793	SO:0001583	missense	55672					cytoplasm		g.chr1:16892934C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2860G>A	1.37:g.16892934C>T	ENSP00000474456:p.Val954Met					NBPF1_ENST00000420031.2_Intron|NBPF1_ENST00000432949.1_Intron	p.V954M	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3747	-			954			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2860G>A																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		29	1042	0	0	0	1	0	29	1042				
EHBP1	23301	broad.mit.edu	37	2	63223880	63223880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:63223880C>T	ENST00000263991.5	+	21	3777	c.3295C>T	c.(3295-3297)Ctt>Ttt	p.L1099F	EHBP1_ENST00000405289.1_Missense_Mutation_p.L1064F|EHBP1_ENST00000354487.3_Missense_Mutation_p.L1064F|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Missense_Mutation_p.L1028F|EHBP1_ENST00000405015.3_Missense_Mutation_p.L1028F	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1099						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GGAGAAGCGCCTTCGCTATCT	0.463																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(3295-3297)Ctt>Ttt		EH domain binding protein 1							91.0	86.0	88.0					2																	63223880		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63223880C>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3295C>T	2.37:g.63223880C>T	ENSP00000263991:p.Leu1099Phe					EHBP1_ENST00000405015.3_Missense_Mutation_p.L1028F|EHBP1_ENST00000354487.3_Missense_Mutation_p.L1064F|EHBP1_ENST00000431489.1_Missense_Mutation_p.L1028F|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Missense_Mutation_p.L1064F	p.L1099F	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		21	3777	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		1099					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.3295C>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427545	0.83667	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289;ENST00000545092	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.41	5.41	0.78517	Domain of unknown function DUF3585 (1);	0.000000	0.64402	D	0.000002	T	0.79724	0.4495	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.84308	0.0509	10	0.87932	D	0	.	19.2084	0.93744	0.0:1.0:0.0:0.0	.	1064;1028;1099	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	F	1028;1028;1099;1064;1064;70	ENSP00000384143:L1028F;ENSP00000403783:L1028F;ENSP00000263991:L1099F;ENSP00000346482:L1064F;ENSP00000385524:L1064F	ENSP00000263991:L1099F	L	+	1	0	EHBP1	63077384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.556000	0.86216	0.650000	0.86243	CTT		0.463	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		15	41	0	0	0	1	0	15	41				
IPO4	79711	broad.mit.edu	37	14	24656302	24656302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24656302G>A	ENST00000354464.6	-	7	819	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	215					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCATCTATGGGGATCAGAGTC	0.552																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(643-645)Ccc>Tcc		importin 4							250.0	257.0	255.0					14																	24656302		2179	4283	6462	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24656302G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.643C>T	14.37:g.24656302G>A	ENSP00000346453:p.Pro215Ser					RP11-468E2.2_ENST00000561419.1_3'UTR	p.P215S	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	7	819	-			215					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.643C>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	4.080	0.012810	0.07912	.	.	ENSG00000196497	ENST00000354464	T	0.08102	3.13	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.180534	0.40728	N	0.001039	T	0.05227	0.0139	N	0.22421	0.69	0.31806	N	0.627791	B	0.10296	0.003	B	0.14023	0.01	T	0.20505	-1.0273	10	0.07990	T	0.79	-12.0955	9.4533	0.38739	0.0934:0.0:0.9066:0.0	.	215	Q8TEX9	IPO4_HUMAN	S	215	ENSP00000346453:P215S	ENSP00000346453:P215S	P	-	1	0	IPO4	23726142	0.994000	0.37717	0.993000	0.49108	0.507000	0.33981	1.037000	0.30241	2.644000	0.89710	0.563000	0.77884	CCC		0.552	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		64	148	0	0	0	1	0	64	148				
PER2	8864	broad.mit.edu	37	2	239162052	239162052	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:239162052G>A	ENST00000254657.3	-	19	2891	c.2612C>T	c.(2611-2613)cCt>cTt	p.P871L	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	871	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCGTGGGGAGGTGCCGGGGG	0.667																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2611-2613)cCt>cTt		period circadian clock 2							26.0	27.0	27.0					2																	239162052		2203	4298	6501	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239162052G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2612C>T	2.37:g.239162052G>A	ENSP00000254657:p.Pro871Leu					AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.P871L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	2891	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	871			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2612C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	4.613	0.113956	0.08831	.	.	ENSG00000132326	ENST00000254657	T	0.11385	2.78	4.21	0.189	0.15119	.	0.553020	0.20298	N	0.095091	T	0.05593	0.0147	L	0.27053	0.805	0.09310	N	1	B;B	0.19331	0.002;0.035	B;B	0.14578	0.001;0.011	T	0.38351	-0.9665	10	0.22109	T	0.4	-0.1917	3.5284	0.07768	0.3912:0.0:0.4368:0.1719	.	871;871	B4DH14;O15055	.;PER2_HUMAN	L	871	ENSP00000254657:P871L	ENSP00000254657:P871L	P	-	2	0	PER2	238826791	0.030000	0.19436	0.000000	0.03702	0.010000	0.07245	1.719000	0.38011	-0.215000	0.10063	0.491000	0.48974	CCT		0.667	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		17	29	0	0	0	1	0	17	29				
GPR98	84059	broad.mit.edu	37	5	89953953	89953953	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:89953953G>A	ENST00000405460.2	+	21	4706	c.4610G>A	c.(4609-4611)gGa>gAa	p.G1537E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1537	Calx-beta 10. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACGAGGAAGGAGAAGAATTA	0.338																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(4609-4611)gGa>gAa		G protein-coupled receptor 98							110.0	112.0	111.0					5																	89953953		1838	4085	5923	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89953953G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4610G>A	5.37:g.89953953G>A	ENSP00000384582:p.Gly1537Glu						p.G1537E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4706	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1537			Calx-beta 10.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4610G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050699	0.55218	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28069	1.63	5.86	4.98	0.66077	.	0.145732	0.64402	N	0.000007	T	0.43700	0.1259	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34875	-0.9811	10	0.46703	T	0.11	.	14.849	0.70281	0.0688:0.0:0.9311:0.0	.	1537	Q8WXG9	GPR98_HUMAN	E	1537	ENSP00000384582:G1537E	ENSP00000296619:G1537E	G	+	2	0	GPR98	89989709	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	6.448000	0.73469	1.470000	0.48102	0.650000	0.86243	GGA		0.338	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	53	0	0	0	1	0	8	53				
SLC7A9	11136	broad.mit.edu	37	19	33355559	33355559	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:33355559C>T	ENST00000023064.4	-	3	402	c.211G>A	c.(211-213)Gct>Act	p.A71T	SLC7A9_ENST00000587772.1_Missense_Mutation_p.A71T|SLC7A9_ENST00000590341.1_Missense_Mutation_p.A71T|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	71					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ACCCCGCAAGCCGCCCATATG	0.627																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				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						c.(211-213)Gct>Act		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						88.0	86.0	87.0					19																	33355559		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355559C>T	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.211G>A	19.37:g.33355559C>T	ENSP00000023064:p.Ala71Thr					SLC7A9_ENST00000587772.1_Missense_Mutation_p.A71T|SLC7A9_ENST00000590341.1_Missense_Mutation_p.A71T	p.A71T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			3	402	-	Esophageal squamous(110;0.137)		71					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.211G>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599635	0.28534	.	.	ENSG00000021488	ENST00000023064	D	0.90133	-2.62	5.13	1.84	0.25277	Amino acid permease domain (1);	0.586774	0.19222	N	0.119645	D	0.89455	0.6720	M	0.77712	2.385	0.09310	N	0.999999	B	0.25850	0.136	B	0.32149	0.141	T	0.78826	-0.2051	10	0.30078	T	0.28	.	10.5613	0.45146	0.0:0.7878:0.0:0.2122	.	71	P82251	BAT1_HUMAN	T	71	ENSP00000023064:A71T	ENSP00000023064:A71T	A	-	1	0	SLC7A9	38047399	0.861000	0.29849	0.000000	0.03702	0.023000	0.10783	2.143000	0.42187	0.285000	0.22329	-0.448000	0.05591	GCT		0.627	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			46	58	0	0	0	1	0	46	58				
PIWIL3	440822	broad.mit.edu	37	22	25115555	25115555	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:25115555C>T	ENST00000332271.5	-	21	2949	c.2533G>A	c.(2533-2535)Ggc>Agc	p.G845S	PIWIL3_ENST00000527701.1_Splice_Site_p.G727S|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Splice_Site_p.G727S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	845	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGGATGATGCCCTTTAGTAGG	0.438																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.e21-1		piwi-like RNA-mediated gene silencing 3							79.0	76.0	77.0					22																	25115555		2203	4300	6503	SO:0001630	splice_region_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25115555C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2533-1G>A	22.37:g.25115555C>T						PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Splice_Site_p.G727_splice|PIWIL3_ENST00000533313.1_Splice_Site_p.G727_splice	p.G845_splice	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			21	2949	-			845			Piwi.			Splice_Site	SNP	ENST00000332271.5	37	c.2532_splice	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674746	0.67928	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.16324	2.35;2.35;2.35	3.02	2.0	0.26442	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.058389	0.64402	D	0.000002	T	0.39989	0.1099	M	0.85462	2.755	0.58432	D	0.999999	D;P;D	0.89917	1.0;0.887;0.999	D;P;D	0.97110	1.0;0.896;0.994	T	0.21143	-1.0254	10	0.45353	T	0.12	-7.0875	8.1906	0.31366	0.0:0.8731:0.0:0.1269	.	727;836;845	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	S	845;727;727	ENSP00000330031:G845S;ENSP00000431843:G727S;ENSP00000435718:G727S	ENSP00000330031:G845S	G	-	1	0	PIWIL3	23445555	1.000000	0.71417	0.231000	0.23993	0.033000	0.12548	4.503000	0.60407	0.855000	0.35359	0.455000	0.32223	GGC		0.438	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	Missense_Mutation	4	54	0	0	0	1	0	4	54				
AVPR1A	552	broad.mit.edu	37	12	63544048	63544048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:63544048G>A	ENST00000299178.2	-	1	674	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	190					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CTCGATCATGGAGAAGACGAA	0.647																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(568-570)tCc>tTc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						58.0	58.0	58.0					12																	63544048		2202	4299	6501	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544048G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.569C>T	12.37:g.63544048G>A	ENSP00000299178:p.Ser190Phe						p.S190F	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	674	-			190						Missense_Mutation	SNP	ENST00000299178.2	37	c.569C>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719887	0.68844	.	.	ENSG00000166148	ENST00000299178	T	0.73047	-0.71	5.19	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.165319	0.56097	N	0.000038	D	0.84986	0.5594	M	0.90542	3.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.86459	0.1778	9	.	.	.	-31.634	10.0696	0.42325	0.077:0.1376:0.7854:0.0	.	190	P37288	V1AR_HUMAN	F	190	ENSP00000299178:S190F	.	S	-	2	0	AVPR1A	61830315	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.622000	0.74233	1.190000	0.43042	-0.391000	0.06502	TCC		0.647	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			43	71	0	0	0	1	0	43	71				
LAMA1	284217	broad.mit.edu	37	18	6964737	6964737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:6964737C>T	ENST00000389658.3	-	51	7354	c.7261G>A	c.(7261-7263)Gga>Aga	p.G2421R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2421	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAAGATGCTCCCGGAGTCTCG	0.448																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(7261-7263)Gga>Aga		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						142.0	122.0	129.0					18																	6964737		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6964737C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7261G>A	18.37:g.6964737C>T	ENSP00000374309:p.Gly2421Arg						p.G2421R	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			51	7354	-		Colorectal(10;0.172)	2421			Laminin G-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7261G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927370	0.73327	.	.	ENSG00000101680	ENST00000389658	T	0.81247	-1.47	5.85	5.85	0.93711	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92181	0.5751	10	0.54805	T	0.06	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	2421	P25391	LAMA1_HUMAN	R	2421	ENSP00000374309:G2421R	ENSP00000374309:G2421R	G	-	1	0	LAMA1	6954737	1.000000	0.71417	0.823000	0.32752	0.179000	0.23085	6.480000	0.73604	2.767000	0.95098	0.655000	0.94253	GGA		0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		6	117	0	0	0	1	0	6	117				
HECW2	57520	broad.mit.edu	37	2	197183456	197183456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:197183456G>A	ENST00000260983.3	-	9	2340	c.2158C>T	c.(2158-2160)Cca>Tca	p.P720S	HECW2_ENST00000409111.1_Missense_Mutation_p.P364S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	720					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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTGCCCCTGGCCCTTCATCC	0.662																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2158-2160)Cca>Tca		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							30.0	32.0	31.0					2																	197183456		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183456G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2158C>T	2.37:g.197183456G>A	ENSP00000260983:p.Pro720Ser					HECW2_ENST00000409111.1_Missense_Mutation_p.P364S	p.P720S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2340	-			720					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2158C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	8.273	0.813847	0.16537	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.28895	1.59;1.6	4.69	2.85	0.33270	.	2.178490	0.01862	N	0.036683	T	0.17450	0.0419	N	0.08118	0	0.27700	N	0.945839	B	0.16603	0.018	B	0.14023	0.01	T	0.26155	-1.0111	10	0.11182	T	0.66	.	7.7062	0.28650	0.0901:0.1765:0.7334:0.0	.	720	Q9P2P5	HECW2_HUMAN	S	364;720	ENSP00000386775:P364S;ENSP00000260983:P720S	ENSP00000260983:P720S	P	-	1	0	HECW2	196891701	0.995000	0.38212	0.980000	0.43619	0.983000	0.72400	2.649000	0.46656	0.561000	0.29186	0.462000	0.41574	CCA		0.662	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		6	27	0	0	0	1	0	6	27				
NIN	51199	broad.mit.edu	37	14	51226579	51226579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:51226579C>T	ENST00000382041.3	-	17	2585	c.2395G>A	c.(2395-2397)Gga>Aga	p.G799R	NIN_ENST00000382043.4_Missense_Mutation_p.G799R|NIN_ENST00000389868.3_Missense_Mutation_p.G799R|NIN_ENST00000324330.9_Missense_Mutation_p.G799R|NIN_ENST00000245441.5_Missense_Mutation_p.G799R|NIN_ENST00000530997.2_Missense_Mutation_p.G799R|NIN_ENST00000453196.1_Missense_Mutation_p.G799R	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	799					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTTACCTTCCCTCCTGAAGC	0.532			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(2395-2397)Gga>Aga		ninein (GSK3B interacting protein)							209.0	199.0	202.0					14																	51226579		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51226579C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2395G>A	14.37:g.51226579C>T	ENSP00000371472:p.Gly799Arg					NIN_ENST00000382041.3_Missense_Mutation_p.G799R|NIN_ENST00000453196.1_Missense_Mutation_p.G799R|NIN_ENST00000389868.3_Missense_Mutation_p.G799R|NIN_ENST00000530997.2_Missense_Mutation_p.G799R|NIN_ENST00000382043.4_Missense_Mutation_p.G799R|NIN_ENST00000324330.9_Missense_Mutation_p.G799R	p.G799R	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			17	2585	-	all_epithelial(31;0.00244)|Breast(41;0.127)		799					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.2395G>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.01|16.01	3.000830|3.000830	0.54254|0.54254	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T;T;T	.|0.11604	.|3.58;2.76;2.77;3.32;3.32;3.32	5.42|5.42	4.53|4.53	0.55603|0.55603	.|.	0.666605|0.666605	0.15057|0.15057	N|N	0.282952|0.282952	T|T	0.22322|0.22322	0.0538|0.0538	M|M	0.65975|0.65975	2.015|2.015	0.29926|0.29926	N|N	0.822323|0.822323	.|D;D;D;B;D	.|0.63046	.|0.982;0.982;0.992;0.034;0.992	.|P;P;P;B;P	.|0.59825	.|0.726;0.726;0.758;0.007;0.864	T|T	0.04708|0.04708	-1.0932|-1.0932	6|10	.|0.15499	.|T	.|0.54	.|.	8.8015|8.8015	0.34912|0.34912	0.0:0.7698:0.1508:0.0795|0.0:0.7698:0.1508:0.0795	.|.	.|805;799;799;799;799	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	E|R	289|799;782;799;799;805;799;799;799	.|ENSP00000245441:G799R;ENSP00000374518:G799R;ENSP00000371474:G799R;ENSP00000371472:G799R;ENSP00000324210:G799R;ENSP00000412391:G799R	.|ENSP00000245441:G799R	G|G	-|-	2|1	0|0	NIN|NIN	50296329|50296329	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.839000|0.839000	0.47603|0.47603	2.103000|2.103000	0.41806|0.41806	1.270000|1.270000	0.44297|0.44297	0.467000|0.467000	0.42956|0.42956	GGG|GGA		0.532	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		61	143	0	0	0	1	0	61	143				
COPS2	9318	broad.mit.edu	37	15	49448209	49448209	+	5'Flank	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:49448209G>A	ENST00000388901.5	-	0	0				COPS2_ENST00000299259.6_5'Flank|COPS2_ENST00000542928.1_5'Flank|GALK2_ENST00000327171.3_Missense_Mutation_p.D6N	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2						cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CGTCCTATATGACAGGTATTA	0.468																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	ENST00000327171.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(16-18)Gac>Aac		galactokinase 2							129.0	109.0	116.0					15																	49448209		2196	4295	6491	SO:0001631	upstream_gene_variant	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49448209G>A	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201			15.37:g.49448209G>A	Exception_encountered						p.D6N	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	1	248	+		all_lung(180;0.000325)	17					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.16G>A	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823062	0.71028	.	.	ENSG00000156958	ENST00000327171	D	0.83837	-1.77	4.64	3.73	0.42828	.	0.972834	0.08476	N	0.940251	T	0.73938	0.3651	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.63256	-0.6678	9	0.29301	T	0.29	.	8.7524	0.34626	0.1003:0.0:0.8997:0.0	.	6	Q7Z4Q4	.	N	6	ENSP00000316632:D6N	ENSP00000316632:D6N	D	+	1	0	GALK2	47235501	0.996000	0.38824	0.984000	0.44739	0.940000	0.58332	3.817000	0.55668	1.558000	0.49541	0.655000	0.94253	GAC		0.468	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		19	40	0	0	0	1	0	19	40				
SLC4A1AP	22950	broad.mit.edu	37	2	27887366	27887366	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27887366C>T	ENST00000326019.6	+	1	1029	c.747C>T	c.(745-747)atC>atT	p.I249I	SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	249	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AAACTCGCATCCCACCTCGCA	0.562																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(745-747)atC>atT		solute carrier family 4 (anion exchanger), member 1, adaptor protein							91.0	96.0	94.0					2																	27887366		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27887366C>T		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.747C>T	2.37:g.27887366C>T							p.I249I	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			1	1029	+	Acute lymphoblastic leukemia(172;0.155)		249			FHA.		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.747C>T	CCDS33166.1																																																																																				0.562	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		7	50	0	0	0	1	0	7	50				
KIF1B	23095	broad.mit.edu	37	1	10335525	10335525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:10335525G>A	ENST00000377086.1	+	11	1124	c.922G>A	c.(922-924)Gat>Aat	p.D308N	KIF1B_ENST00000263934.6_Missense_Mutation_p.D302N|KIF1B_ENST00000377081.1_Missense_Mutation_p.D308N|KIF1B_ENST00000377083.1_Missense_Mutation_p.D302N|KIF1B_ENST00000377093.4_Missense_Mutation_p.D302N			O60333	KIF1B_HUMAN	kinesin family member 1B	308	Interaction with KBP.|Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTACAGGGATTCTGTACT	0.313																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(922-924)Gat>Aat		kinesin family member 1B							103.0	110.0	108.0					1																	10335525		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10335525G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.922G>A	1.37:g.10335525G>A	ENSP00000366290:p.Asp308Asn					KIF1B_ENST00000377093.4_Missense_Mutation_p.D302N|KIF1B_ENST00000377081.1_Missense_Mutation_p.D308N|KIF1B_ENST00000377083.1_Missense_Mutation_p.D302N|KIF1B_ENST00000263934.6_Missense_Mutation_p.D302N	p.D308N			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	11	1124	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	308			Interaction with KBP.|Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.922G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.373957	0.95923	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.85	5.85	0.93711	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.88537	0.6463	L	0.56124	1.755	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.99;1.0;1.0;0.976;0.997;0.987	D;D;D;D;P;D;P	0.97110	1.0;0.963;0.999;0.999;0.842;0.983;0.898	D	0.88557	0.3120	10	0.87932	D	0	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	308;308;308;308;308;302;302	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	N	308;302;302;308;302;308	ENSP00000263934:D302N;ENSP00000366297:D302N;ENSP00000366290:D308N;ENSP00000366287:D302N;ENSP00000366284:D308N	ENSP00000263934:D302N	D	+	1	0	KIF1B	10258112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.291000	0.96070	2.768000	0.95171	0.655000	0.94253	GAT		0.313	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			34	87	0	0	0	1	0	34	87				
UBC	7316	broad.mit.edu	37	12	125398110	125398110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:125398110C>T	ENST00000538617.1	-	3	524	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	UBC_ENST00000546120.1_Missense_Mutation_p.V70M|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.V70M|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536769.1_Missense_Mutation_p.V70M			P0CG48	UBC_HUMAN	ubiquitin C	450	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGACGGAGCACCAGGTGCAGG	0.552																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(208-210)Gtg>Atg		ubiquitin C							204.0	187.0	193.0					12																	125398110		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398110C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.208G>A	12.37:g.125398110C>T	ENSP00000443053:p.Val70Met					UBC_ENST00000546120.1_Missense_Mutation_p.V70M|UBC_ENST00000538617.1_Missense_Mutation_p.V70M|UBC_ENST00000339647.5_Missense_Mutation_p.V70M	p.V70M			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1784	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		70			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000538617.1	37	c.208G>A		.	.	.	.	.	.	.	.	.	.	-	12.61	1.988287	0.35036	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000544656;ENST00000541272;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700;ENST00000535859	T;T;T;T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.51	4.51	0.55191	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.43110	U	0.000608	D	0.89206	0.6649	M	0.88377	2.95	0.50039	D	0.999844	D;D;D	0.71674	0.991;0.994;0.998	D;D;D	0.75020	0.973;0.974;0.985	D	0.91479	0.5203	10	0.87932	D	0	.	15.1039	0.72306	0.0:1.0:0.0:0.0	.	159;70;70	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	M	70	ENSP00000441543:V70M;ENSP00000443053:V70M;ENSP00000344818:V70M;ENSP00000438394:V70M;ENSP00000440205:V70M;ENSP00000442800:V70M;ENSP00000445337:V70M;ENSP00000439492:V70M;ENSP00000438289:V70M;ENSP00000441238:V70M;ENSP00000437452:V70M	ENSP00000344818:V70M	V	-	1	0	UBC	123964063	0.999000	0.42202	0.982000	0.44146	0.262000	0.26303	4.243000	0.58721	2.212000	0.71576	0.650000	0.86243	GTG		0.552	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		12	361	0	0	0	1	0	12	361				
EPHB6	2051	broad.mit.edu	37	7	142562211	142562211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:142562211C>T	ENST00000392957.2	+	7	1440	c.653C>T	c.(652-654)gCc>gTc	p.A218V	EPHB6_ENST00000442129.1_Missense_Mutation_p.A218V|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	218	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.A203D(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GACACGGGGGCCTGCCTGGCC	0.657																																						ENST00000392957.2																			1	Substitution - Missense(1)	p.A203D(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(652-654)gCc>gTc		EPH receptor B6							75.0	85.0	82.0					7																	142562211		2198	4295	6493	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562211C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.653C>T	7.37:g.142562211C>T	ENSP00000376684:p.Ala218Val					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.A218V	p.A218V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1440	+	Melanoma(164;0.059)		218					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.653C>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680861	0.88542	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.05855	3.38;3.38	5.85	5.85	0.93711	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.46758	D	0.000266	T	0.28466	0.0704	M	0.82056	2.57	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.00494	-1.1706	10	0.87932	D	0	.	19.1689	0.93569	0.0:1.0:0.0:0.0	.	218	O15197	EPHB6_HUMAN	V	218	ENSP00000376684:A218V;ENSP00000410789:A218V	ENSP00000376684:A218V	A	+	2	0	EPHB6	142272333	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.976000	0.70484	2.782000	0.95742	0.655000	0.94253	GCC		0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			35	119	0	0	0	1	0	35	119				
CHD3	1107	broad.mit.edu	37	17	7801418	7801418	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7801418C>T	ENST00000330494.7	+	12	2199	c.2049C>T	c.(2047-2049)caC>caT	p.H683H	CHD3_ENST00000380358.4_Silent_p.H742H|CHD3_ENST00000358181.4_Silent_p.H683H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	683					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACTGGAGACACCGGTGAGGGA	0.453																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2224-2226)caC>caT		chromodomain helicase DNA binding protein 3							161.0	155.0	157.0					17																	7801418		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7801418C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2049C>T	17.37:g.7801418C>T						CHD3_ENST00000358181.4_Silent_p.H683H|CHD3_ENST00000330494.7_Silent_p.H683H	p.H742H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			12	2227	+		Prostate(122;0.202)	683					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.2226C>T	CCDS32554.1																																																																																				0.453	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		32	52	0	0	0	1	0	32	52				
PGBD1	84547	broad.mit.edu	37	6	28269423	28269423	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:28269423C>T	ENST00000405948.2	+	7	2212	c.1792C>T	c.(1792-1794)Cct>Tct	p.P598S	PGBD1_ENST00000259883.3_Missense_Mutation_p.P598S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	598						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATGAGGATCCTGATCTTGG	0.398																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1792-1794)Cct>Tct		piggyBac transposable element derived 1							136.0	135.0	135.0					6																	28269423		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269423C>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1792C>T	6.37:g.28269423C>T	ENSP00000385213:p.Pro598Ser					PGBD1_ENST00000259883.3_Missense_Mutation_p.P598S	p.P598S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	2212	+			598					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1792C>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	4.005	-0.001732	0.07819	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.16597	2.33;2.33	4.39	3.52	0.40303	.	1.001770	0.08056	N	0.997389	T	0.03095	0.0091	N	0.19112	0.55	0.25363	N	0.988761	B	0.14438	0.01	B	0.20384	0.029	T	0.42378	-0.9455	10	0.09338	T	0.73	-17.2125	8.4912	0.33102	0.0:0.8936:0.0:0.1064	.	598	Q96JS3	PGBD1_HUMAN	S	598	ENSP00000385213:P598S;ENSP00000259883:P598S	ENSP00000259883:P598S	P	+	1	0	PGBD1	28377402	0.706000	0.27856	0.932000	0.37286	0.316000	0.28119	0.577000	0.23758	1.197000	0.43143	0.655000	0.94253	CCT		0.398	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			8	101	0	0	0	1	0	8	101				
GJA9	81025	broad.mit.edu	37	1	39340516	39340516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39340516G>A	ENST00000360786.3	-	1	1507	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S	RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.P419S|GJA9_ENST00000454994.2_Missense_Mutation_p.P419S|MYCBP_ENST00000397572.2_5'Flank			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	419					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGCCACCGCGGTTTCCAATCG	0.507																																						ENST00000454994.2																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1255-1257)Ccg>Tcg		gap junction protein, alpha 9, 59kDa							97.0	95.0	96.0					1																	39340516		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340516G>A	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1255C>T	1.37:g.39340516G>A	ENSP00000354020:p.Pro419Ser					GJA9_ENST00000360786.3_Missense_Mutation_p.P419S|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.P419S|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA	p.P419S			P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1531	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	419					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.1255C>T	CCDS432.1	.	.	.	.	.	.	.	.	.	.	G	9.872	1.199160	0.22121	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97620	-4.46;-4.32;-4.32	4.49	3.48	0.39840	.	33.142500	0.01105	U	0.005467	D	0.93164	0.7823	N	0.24115	0.695	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	D	0.83726	0.0195	10	0.23891	T	0.37	.	5.634	0.17526	0.1065:0.2022:0.6912:0.0	.	419	P57773	CXA9_HUMAN	S	419	ENSP00000406846:P419S;ENSP00000350415:P419S;ENSP00000354020:P419S	ENSP00000350415:P419S	P	-	1	0	GJA9	39113103	0.015000	0.18098	0.021000	0.16686	0.110000	0.19582	1.479000	0.35453	2.439000	0.82584	0.655000	0.94253	CCG		0.507	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		18	43	0	0	0	1	0	18	43				
GPR115	221393	broad.mit.edu	37	6	47682815	47682815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:47682815C>T	ENST00000283303.2	+	6	2092	c.1834C>T	c.(1834-1836)Cca>Tca	p.P612S	GPR115_ENST00000371220.1_Missense_Mutation_p.P669S|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.P612S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	612					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)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CATCCTCACTCCACTGCTGGG	0.468																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1834-1836)Cca>Tca		G protein-coupled receptor 115							99.0	89.0	93.0					6																	47682815		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682815C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1834C>T	6.37:g.47682815C>T	ENSP00000283303:p.Pro612Ser					GPR115_ENST00000371220.1_Missense_Mutation_p.P669S|GPR115_ENST00000327753.3_Missense_Mutation_p.P612S	p.P612S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	2092	+			612					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1834C>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266060	0.80358	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.59364	0.27;0.27;0.27	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.080135	0.53938	D	0.000043	T	0.77103	0.4081	M	0.86420	2.815	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.79165	-0.1916	10	0.56958	D	0.05	-14.7406	18.7478	0.91800	0.0:1.0:0.0:0.0	.	612	Q8IZF3	GP115_HUMAN	S	669;612;612	ENSP00000360264:P669S;ENSP00000328319:P612S;ENSP00000283303:P612S	ENSP00000283303:P612S	P	+	1	0	GPR115	47790774	1.000000	0.71417	0.940000	0.37924	0.751000	0.42716	7.749000	0.85096	2.741000	0.93983	0.655000	0.94253	CCA		0.468	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		37	75	0	0	0	1	0	37	75				
PCDHA1	56147	broad.mit.edu	37	5	140167574	140167574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140167574G>A	ENST00000504120.2	+	1	1699	c.1699G>A	c.(1699-1701)Gcg>Acg	p.A567T	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A567T|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	567					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCTGCTGGCGCCTCGAGT	0.687																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1699-1701)Gcg>Acg									85.0	85.0	85.0					5																	140167574		2203	4299	6502	SO:0001583	missense	0							g.chr5:140167574G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1699G>A	5.37:g.140167574G>A	ENSP00000420840:p.Ala567Thr					PCDHA1_ENST00000378133.3_Missense_Mutation_p.A567T|PCDHA1_ENST00000394633.3_Intron	p.A567T	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1699	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1699G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	6.870	0.529827	0.13127	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.60920	0.15;0.15	3.68	1.8	0.24995	Cadherin-like (1);	0.425559	0.16619	U	0.206589	T	0.33498	0.0865	N	0.17564	0.495	0.09310	N	1	B;B	0.19445	0.004;0.036	B;B	0.15870	0.006;0.014	T	0.16305	-1.0407	10	0.16896	T	0.51	.	5.8025	0.18422	0.0:0.5034:0.2501:0.2466	.	567;567	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	T	567	ENSP00000420840:A567T;ENSP00000367373:A567T	ENSP00000367373:A567T	A	+	1	0	PCDHA1	140147758	0.000000	0.05858	0.542000	0.28115	0.387000	0.30353	0.130000	0.15850	0.152000	0.19188	0.484000	0.47621	GCG		0.687	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		10	159	0	0	0	1	0	10	159				
RB1	5925	broad.mit.edu	37	13	48881513	48881513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:48881513G>A	ENST00000267163.4	+	2	373	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	79					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)|p.E79*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTTAACTTGGGAGAAAGTTTC	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		19	Whole gene deletion(15)|Unknown(3)|Substitution - Nonsense(1)	p.0?(15)|p.?(3)|p.E79*(1)	bone(10)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|eye(1)|soft_tissue(1)|endometrium(1)|lung(1)|stomach(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(235-237)Gag>Aag		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						135.0	138.0	137.0					13																	48881513		2203	4299	6502	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48881513G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.235G>A	13.37:g.48881513G>A	ENSP00000267163:p.Glu79Lys	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.E79K	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	373	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	79					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.235G>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087486	0.36855	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.62788	0.0	4.86	3.1	0.35709	.	0.180308	0.48286	D	0.000183	T	0.44912	0.1316	L	0.29908	0.895	0.45554	D	0.998508	B	0.12630	0.006	B	0.13407	0.009	T	0.32561	-0.9902	10	0.34782	T	0.22	-3.815	6.871	0.24121	0.2083:0.0:0.7917:0.0	.	79	P06400	RB_HUMAN	K	58;79	ENSP00000267163:E79K	ENSP00000267163:E79K	E	+	1	0	RB1	47779514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.197000	0.42696	1.176000	0.42840	0.650000	0.86243	GAG		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			28	13	0	0	0	1	0	28	13				
FRYL	285527	broad.mit.edu	37	4	48548106	48548106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:48548106G>A	ENST00000503238.1	-	39	5256	c.5257C>T	c.(5257-5259)Ctc>Ttc	p.L1753F	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L1753F|FRYL_ENST00000358350.4_Missense_Mutation_p.L1753F|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1753					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						aattccatgagGGTTTTGACT	0.418																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5257-5259)Ctc>Ttc		FRY-like							80.0	78.0	79.0					4																	48548106		1931	4132	6063	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48548106G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5257C>T	4.37:g.48548106G>A	ENSP00000426064:p.Leu1753Phe					FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.L1753F|FRYL_ENST00000503238.1_Missense_Mutation_p.L1753F	p.L1753F			O94915	FRYL_HUMAN			42	5861	-			1753					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.5257C>T	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.17|19.17	3.776738|3.776738	0.70107|0.70107	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.39997|.	1.05;1.05;1.05|.	5.61|5.61	3.84|3.84	0.44239|0.44239	Armadillo-type fold (1);|.	0.065236|.	0.64402|.	D|.	0.000004|.	T|T	0.70753|0.70753	0.3260|0.3260	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.998;0.997|.	T|T	0.69003|0.69003	-0.5260|-0.5260	10|5	0.38643|.	T|.	0.18|.	.|.	16.0402|16.0402	0.80667|0.80667	0.0:0.2539:0.7461:0.0|0.0:0.2539:0.7461:0.0	.|.	583;1753;1753|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	F|L	1753|622	ENSP00000426064:L1753F;ENSP00000351113:L1753F;ENSP00000441114:L1753F|.	ENSP00000351113:L1753F|.	L|P	-|-	1|2	0|0	FRYL|FRYL	48242863|48242863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.794000|0.794000	0.44872|0.44872	9.058000|9.058000	0.93896|0.93896	0.680000|0.680000	0.31366|0.31366	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			3	44	0	0	0	1	0	3	44				
CHI3L2	1117	broad.mit.edu	37	1	111777666	111777666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:111777666C>T	ENST00000445067.2	+	7	1238	c.467C>T	c.(466-468)aCt>aTt	p.T156I	CHI3L2_ENST00000369744.2_Missense_Mutation_p.T146I|CHI3L2_ENST00000524472.1_Missense_Mutation_p.T77I|CHI3L2_ENST00000466741.1_Missense_Mutation_p.T77I|CHI3L2_ENST00000369748.4_Missense_Mutation_p.T156I			Q15782	CH3L2_HUMAN	chitinase 3-like 2	156					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		ACTCATTTCACTGTGCTGATT	0.408																																						ENST00000445067.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19						c.(466-468)aCt>aTt		chitinase 3-like 2							102.0	92.0	95.0					1																	111777666		2203	4300	6503	SO:0001583	missense	1117				chitin catabolic process	extracellular space	cation binding|chitinase activity	g.chr1:111777666C>T	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.467C>T	1.37:g.111777666C>T	ENSP00000437082:p.Thr156Ile					CHI3L2_ENST00000369748.4_Missense_Mutation_p.T156I|CHI3L2_ENST00000466741.1_Missense_Mutation_p.T77I|CHI3L2_ENST00000369744.2_Missense_Mutation_p.T146I|CHI3L2_ENST00000524472.1_Missense_Mutation_p.T77I	p.T156I			Q15782	CH3L2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	7	1238	+		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	156					A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	c.467C>T	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616061	0.28801	.	.	ENSG00000064886	ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000497587;ENST00000524472;ENST00000497220	T;T;T;T;T;T;T;T;T;T;T	0.36340	3.58;1.26;1.26;3.58;3.58;3.58;3.58;1.45;3.58;3.58;3.58	3.71	2.8	0.32819	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.353337	0.20652	N	0.088194	T	0.18718	0.0449	L	0.60957	1.885	0.30288	N	0.79063	B;B;B	0.26775	0.159;0.159;0.159	B;B;B	0.31812	0.136;0.048;0.048	T	0.12604	-1.0541	10	0.62326	D	0.03	-0.6785	8.7851	0.34816	0.0:0.8847:0.0:0.1153	.	77;146;156	B4DPR7;A6NNY3;Q15782	.;.;CH3L2_HUMAN	I	156;156;156;146;156;77;77;58;77;77;10	ENSP00000437082:T156I;ENSP00000436077:T156I;ENSP00000431968:T156I;ENSP00000358759:T146I;ENSP00000358763:T156I;ENSP00000437086:T77I;ENSP00000436272:T77I;ENSP00000431978:T58I;ENSP00000436006:T77I;ENSP00000432049:T77I;ENSP00000435250:T10I	ENSP00000358759:T146I	T	+	2	0	CHI3L2	111579189	0.977000	0.34250	0.495000	0.27527	0.094000	0.18550	2.401000	0.44513	0.740000	0.32651	0.462000	0.41574	ACT		0.408	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000		17	47	0	0	0	1	0	17	47				
FBXO30	84085	broad.mit.edu	37	6	146125723	146125723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:146125723C>T	ENST00000237281.4	-	2	1985	c.1819G>A	c.(1819-1821)Gga>Aga	p.G607R		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	607							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTATGTAATCCCAACACACAG	0.433																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1819-1821)Gga>Aga		F-box protein 30							108.0	96.0	100.0					6																	146125723		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146125723C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1819G>A	6.37:g.146125723C>T	ENSP00000237281:p.Gly607Arg						p.G607R	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1985	-		Ovarian(120;0.0776)	607					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.1819G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223331	0.39300	.	.	ENSG00000118496	ENST00000237281	T	0.19250	2.16	5.73	5.73	0.89815	F-box domain, Skp2-like (1);	0.149458	0.64402	D	0.000011	T	0.12561	0.0305	L	0.44542	1.39	0.54753	D	0.99998	B	0.32507	0.373	B	0.24269	0.052	T	0.02966	-1.1088	10	0.87932	D	0	-22.3998	19.9064	0.97008	0.0:1.0:0.0:0.0	.	607	Q8TB52	FBX30_HUMAN	R	607	ENSP00000237281:G607R	ENSP00000237281:G607R	G	-	1	0	FBXO30	146167416	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.497000	0.60367	2.693000	0.91896	0.655000	0.94253	GGA		0.433	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			3	40	0	0	0	1	0	3	40				
ENTPD1	953	broad.mit.edu	37	10	97602220	97602220	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:97602220C>T	ENST00000371205.4	+	4	665	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	ENTPD1_ENST00000543964.1_Silent_p.L20L|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000453258.2_Silent_p.L135L|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371207.3_Silent_p.L140L			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	128					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ACCCGTTTACCTGGGAGCCAC	0.493																																						ENST00000371207.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(418-420)Ctg>Ttg		ectonucleoside triphosphate diphosphohydrolase 1							83.0	84.0	84.0					10																	97602220		2203	4300	6503	SO:0001819	synonymous_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97602220C>T	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.382C>T	10.37:g.97602220C>T						RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Silent_p.L135L|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000371205.4_Silent_p.L128L|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_Silent_p.L20L|ENTPD1_ENST00000539125.1_Intron	p.L140L	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	4	481	+		Colorectal(252;0.0821)	128					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.418C>T	CCDS7444.1																																																																																				0.493	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		7	85	0	0	0	1	0	7	85				
UTP14A	10813	broad.mit.edu	37	X	129042663	129042663	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:129042663G>A	ENST00000394422.3	+	4	219	c.191G>A	c.(190-192)aGg>aAg	p.R64K	UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R64K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	64					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTGGCTGAGAGGTCTGAGGCT	0.438																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(190-192)aGg>aAg		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							247.0	242.0	244.0					X																	129042663		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129042663G>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.191G>A	X.37:g.129042663G>A	ENSP00000377944:p.Arg64Lys					UTP14A_ENST00000425117.2_Missense_Mutation_p.R64K|UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA	p.R64K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			4	219	+			64					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.191G>A	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565732	0.86439	.	.	ENSG00000156697	ENST00000425117;ENST00000394422	T;T	0.18338	2.22;2.22	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.98	T	0.07520	-1.0768	10	0.23302	T	0.38	-21.3127	16.1861	0.81955	0.0:0.0:1.0:0.0	.	64;64	E9PEL7;Q9BVJ6	.;UT14A_HUMAN	K	64	ENSP00000388669:R64K;ENSP00000377944:R64K	ENSP00000377944:R64K	R	+	2	0	UTP14A	128870344	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	5.997000	0.70646	2.289000	0.77006	0.600000	0.82982	AGG		0.438	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		132	260	0	0	0	1	0	132	260				
PRPF40B	25766	broad.mit.edu	37	12	50039626	50039626	+	IGR	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:50039626C>T	ENST00000380281.1	+	0	3154				FMNL3_ENST00000352151.5_Missense_Mutation_p.G968D|FMNL3_ENST00000335154.5_Missense_Mutation_p.G1019D|FMNL3_ENST00000550488.1_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				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						CCGAGGGGGACCACTGGGCGG	0.632																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(3055-3057)gGt>gAt		formin-like 3							26.0	29.0	28.0					12																	50039626		2032	4188	6220	SO:0001628	intergenic_variant	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50039626C>T	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			12.37:g.50039626C>T						FMNL3_ENST00000352151.5_Missense_Mutation_p.G968D|FMNL3_ENST00000550488.1_3'UTR	p.G1019D	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			26	3289	-			523					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.3056G>A		.	.	.	.	.	.	.	.	.	.	C	7.828	0.719241	0.15372	.	.	ENSG00000161791	ENST00000335154;ENST00000352151	T;T	0.80480	-1.26;-1.38	4.14	-1.77	0.07982	.	1.004750	0.08010	N	0.990209	T	0.56775	0.2008	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37056	-0.9722	10	0.19590	T	0.45	.	4.7135	0.12884	0.143:0.2497:0.5121:0.0953	.	968;1019	Q8IVF7-2;Q8IVF7-3	.;.	D	1019;968	ENSP00000335655:G1019D;ENSP00000344311:G968D	ENSP00000335655:G1019D	G	-	2	0	FMNL3	48325893	0.317000	0.24589	0.001000	0.08648	0.043000	0.13939	0.597000	0.24059	-0.315000	0.08703	-0.274000	0.10170	GGT		0.632	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		9	13	0	0	0	1	0	9	13				
DQX1	165545	broad.mit.edu	37	2	74749834	74749834	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74749834C>T	ENST00000404568.3	-	8	1587	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Silent_p.G456G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	456						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTGACAGGTCCCCATCATCAT	0.527																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1366-1368)ggG>ggA		DEAQ box RNA-dependent ATPase 1							197.0	193.0	194.0					2																	74749834		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74749834C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1368G>A	2.37:g.74749834C>T						DQX1_ENST00000393951.2_Silent_p.G456G	p.G456G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			8	1587	-			456					Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.1368G>A	CCDS1949.2																																																																																				0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		80	150	0	0	0	1	0	80	150				
PTCRA	171558	broad.mit.edu	37	6	42890891	42890891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:42890891G>A	ENST00000304672.1	+	2	266	c.185G>A	c.(184-186)tGg>tAg	p.W62*	PTCRA_ENST00000441198.1_Nonsense_Mutation_p.W37*|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	62					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AGCCCCATCTGGTTCTCAGCC	0.607																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(184-186)tGg>tAg		pre T-cell antigen receptor alpha							165.0	137.0	146.0					6																	42890891		2203	4300	6503	SO:0001587	stop_gained	171558					integral to membrane	receptor activity	g.chr6:42890891G>A	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.185G>A	6.37:g.42890891G>A	ENSP00000304447:p.Trp62*					PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Nonsense_Mutation_p.W37*	p.W62*	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	266	+	Colorectal(47;0.196)		62					Q5TFZ7	Nonsense_Mutation	SNP	ENST00000304672.1	37	c.185G>A	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001446	0.93227	.	.	ENSG00000171611	ENST00000304672;ENST00000441198	.	.	.	5.84	5.84	0.93424	.	0.000000	0.44097	D	0.000491	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0391	15.6455	0.77046	0.0:0.0:1.0:0.0	.	.	.	.	X	62;37	.	ENSP00000304447:W62X	W	+	2	0	PTCRA	42998869	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.199000	0.65152	2.748000	0.94277	0.650000	0.86243	TGG		0.607	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		25	60	0	0	0	1	0	25	60				
PCLO	27445	broad.mit.edu	37	7	82586179	82586179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:82586179C>T	ENST00000333891.9	-	5	4427	c.4090G>A	c.(4090-4092)Gga>Aga	p.G1364R	PCLO_ENST00000423517.2_Missense_Mutation_p.G1364R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGAATATCCCGTGTCGCTC	0.423																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4090-4092)Gga>Aga		piccolo presynaptic cytomatrix protein							55.0	53.0	53.0					7																	82586179		1856	4091	5947	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82586179C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4090G>A	7.37:g.82586179C>T	ENSP00000334319:p.Gly1364Arg					PCLO_ENST00000333891.8_Missense_Mutation_p.G1364R	p.G1364R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	4427	-			1295						Missense_Mutation	SNP	ENST00000333891.9	37	c.4090G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985866	0.53934	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.28895	1.59;1.6	5.67	5.67	0.87782	.	.	.	.	.	T	0.59390	0.2190	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61598	-0.7030	9	0.87932	D	0	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	1364;1364	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1295;1364;1364	ENSP00000334319:G1364R;ENSP00000388393:G1364R	ENSP00000334319:G1364R	G	-	1	0	PCLO	82424115	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.675000	0.68123	2.659000	0.90383	0.655000	0.94253	GGA		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	55	0	0	0	1	0	13	55				
SEC31B	25956	broad.mit.edu	37	10	102265199	102265199	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:102265199C>T	ENST00000370345.3	-	10	1195	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	SEC31B_ENST00000451524.1_Silent_p.E366E	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	366					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTGCCACTTGCTCTGGCACCT	0.507																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1096-1098)gaG>gaA		SEC31 homolog B (S. cerevisiae)							155.0	163.0	160.0					10																	102265199		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265199C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1098G>A	10.37:g.102265199C>T						SEC31B_ENST00000451524.1_Silent_p.E366E	p.E366E	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1195	-		Colorectal(252;0.117)	366					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.1098G>A	CCDS7495.1																																																																																				0.507	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		52	105	0	0	0	1	0	52	105				
PTPRD	5789	broad.mit.edu	37	9	8633370	8633370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:8633370G>A	ENST00000381196.4	-	11	842	c.299C>T	c.(298-300)gCc>gTc	p.A100V	PTPRD_ENST00000486161.1_Missense_Mutation_p.A100V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A100V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A100V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A100V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A100V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A100V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A100V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A100V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A100V|PTPRD_ENST00000463477.1_Missense_Mutation_p.A100V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A100V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	100	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTATTTGAGGCCACACATTC	0.433										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(298-300)gCc>gTc		protein tyrosine phosphatase, receptor type, D							189.0	154.0	166.0					9																	8633370		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633370G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.299C>T	9.37:g.8633370G>A	ENSP00000370593:p.Ala100Val	TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Missense_Mutation_p.A100V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A100V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A100V|PTPRD_ENST00000463477.1_Missense_Mutation_p.A100V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A100V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A100V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A100V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A100V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A100V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A100V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A100V	p.A100V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	11	842	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	100			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.299C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	36	5.899639	0.97081	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	6.05	6.05	0.98169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.996;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.998;0.997;0.998;0.998;0.985;0.997;0.979;0.969;0.999	T	0.83050	-0.0153	9	.	.	.	.	20.5989	0.99451	0.0:0.0:1.0:0.0	.	100;100;100;100;100;100;100;100;100;100	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	100	ENSP00000370593:A100V;ENSP00000348812:A100V;ENSP00000353187:A100V;ENSP00000351293:A100V;ENSP00000347373:A100V;ENSP00000380741:A100V;ENSP00000380735:A100V;ENSP00000440515:A100V;ENSP00000438164:A100V;ENSP00000417093:A100V;ENSP00000380731:A100V;ENSP00000417661:A100V	.	A	-	2	0	PTPRD	8623370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.805000	0.99149	2.871000	0.98454	0.637000	0.83480	GCC		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			5	56	0	0	0	1	0	5	56				
TRBV6-5	28602	broad.mit.edu	37	7	142180807	142180807	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:142180807G>A	ENST00000390368.2	-	0	117									T cell receptor beta variable 6-5																		GCATTCACTGGACCTGCAGAG	0.547																																						ENST00000390368.2																			0																				100.0	99.0	99.0					7																	142180807		1940	4151	6091			0							g.chr7:142180807G>A	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180807G>A														0	117	-									RNA	SNP	ENST00000390368.2	37																																																																																						0.547	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		30	141	0	0	0	1	0	30	141				
PCDHB3	56132	broad.mit.edu	37	5	140481633	140481633	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140481633C>T	ENST00000231130.2	+	1	1400	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	467	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGCCCCGCCCTGCACATC	0.622																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1399-1401)gCc>gTc									80.0	81.0	81.0					5																	140481633		2202	4296	6498	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481633C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1400C>T	5.37:g.140481633C>T	ENSP00000231130:p.Ala467Val					AC005754.7_ENST00000607216.1_RNA	p.A467V	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1400	+			467			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1400C>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526801	0.64860	.	.	ENSG00000113205	ENST00000231130	T	0.61158	0.13	4.22	3.32	0.38043	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.61776	0.2374	L	0.31664	0.95	0.38077	D	0.936544	D	0.89917	1.0	D	0.97110	1.0	T	0.65220	-0.6221	9	0.87932	D	0	.	8.6152	0.33826	0.1472:0.4705:0.3823:0.0	.	467	Q9Y5E6	PCDB3_HUMAN	V	467	ENSP00000231130:A467V	ENSP00000231130:A467V	A	+	2	0	PCDHB3	140461817	0.965000	0.33210	1.000000	0.80357	0.998000	0.95712	0.240000	0.18042	0.869000	0.35703	0.558000	0.71614	GCC		0.622	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		5	225	0	0	0	1	0	5	225				
TESK2	10420	broad.mit.edu	37	1	45887481	45887483	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:45887481_45887483delTTA	ENST00000372086.3	-	3	658_660	c.258_260delTAA	c.(256-261)cttaag>ctg	p.K87del	TESK2_ENST00000372084.1_In_Frame_Del_p.K87del|TESK2_ENST00000341771.6_In_Frame_Del_p.K87del|TESK2_ENST00000538496.1_In_Frame_Del_p.K4del|TESK2_ENST00000451835.2_In_Frame_Del_p.K87del|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGTGTTCATCTTAAGAGCCATCA	0.424																																						ENST00000372086.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(256-261)ctg>ct		testis-specific kinase 2																																				SO:0001651	inframe_deletion	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45887481_45887483delTTA	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.258_260delTAA	1.37:g.45887481_45887483delTTA	ENSP00000361158:p.Lys87del					TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000341771.6_In_Frame_Del_p.LK86del|TESK2_ENST00000538496.1_In_Frame_Del_p.LK3del|TESK2_ENST00000451835.2_In_Frame_Del_p.LK86del|TESK2_ENST00000372084.1_In_Frame_Del_p.LK86del	p.LK86del	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN			3	658_660	-	Acute lymphoblastic leukemia(166;0.155)		86			Protein kinase.		Q5T422|Q5T423|Q8N520|Q9Y3Q6	In_Frame_Del	DEL	ENST00000372086.3	37	c.258_260delTAA	CCDS41323.1																																																																																				0.424	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		7	102						7	102	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		5	10						5	10	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121568246	121568248	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:121568246_121568248delTTG	ENST00000393386.2	+	2	506_508	c.95_97delTTG	c.(94-99)cttgtt>ctt	p.V33del	PTPRZ1_ENST00000449182.1_In_Frame_Del_p.V33del	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	33					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGAGAAAACTTGTTGAAGAGAT	0.271																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(94-99)ctt>c		protein tyrosine phosphatase, receptor-type, Z polypeptide 1																																				SO:0001651	inframe_deletion	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121568246_121568248delTTG	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.95_97delTTG	7.37:g.121568249_121568251delTTG	ENSP00000377047:p.Val33del					PTPRZ1_ENST00000449182.1_In_Frame_Del_p.LV32del	p.LV32del	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			2	506_508	+			32					A4D0W5|C9JFM0|O76043|Q9UDR6	In_Frame_Del	DEL	ENST00000393386.2	37	c.95_97delTTG	CCDS34740.1																																																																																				0.271	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		61	210						61	210	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		13	61						13	61	---	---	---	---
SARAF	51669	broad.mit.edu	37	8	29927441	29927441	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:29927441delT	ENST00000256255.6	-	3	674	c.417delA	c.(415-417)acafs	p.T139fs	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		139					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GGCCAAGTTCTGTATAATCTA	0.428																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(415-417)acfs		transmembrane protein 66							103.0	113.0	110.0					8																	29927441		2203	4300	6503	SO:0001589	frameshift_variant	51669					integral to membrane		g.chr8:29927441delT																												ENST00000256255.6:c.417delA	8.37:g.29927441delT	ENSP00000256255:p.Thr139fs					TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	p.T139fs	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	3	674	-			139					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Frame_Shift_Del	DEL	ENST00000256255.6	37	c.417delA	CCDS6074.1																																																																																				0.428	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			13	167						13	167	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41753963	41753963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:41753963delT	ENST00000265709.8	-	1	317	c.36delA	c.(34-36)aaafs	p.K12fs		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTCGATGTCTTTGATTTTCT	0.627																																						ENST00000265709.8																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(34-36)aafs		ankyrin 1, erythrocytic							61.0	55.0	57.0					8																	41753963		1567	3582	5149	SO:0001589	frameshift_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41753963delT	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000265709.8:c.36delA	8.37:g.41753963delT	ENSP00000265709:p.Lys12fs						p.K12fs	NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		1	317	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	0			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Frame_Shift_Del	DEL	ENST00000265709.8	37	c.36delA	CCDS47849.1																																																																																				0.627	ANK1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377171.1	NM_020475		8	27						8	27	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40774452	40774455	+	Frame_Shift_Del	DEL	ATTC	ATTC	-	rs143733035		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:40774452_40774455delATTC	ENST00000602553.1	-	5	1114_1117	c.820_823delGAAT	c.(820-825)gaatatfs	p.EY274fs	ZNF658_ENST00000377626.3_Frame_Shift_Del_p.EY274fs|ZNF658_ENST00000441795.1_Frame_Shift_Del_p.EY272fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGTCCCATATTCATTAAGATCA	0.358																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(820-825)atfs		zinc finger protein 658																																				SO:0001589	frameshift_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774452_40774455delATTC	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.820_823delGAAT	9.37:g.40774452_40774455delATTC	ENSP00000473484:p.Glu274fs					ZNF658_ENST00000377626.3_Frame_Shift_Del_p.EY274fs|ZNF658_ENST00000441795.1_Frame_Shift_Del_p.EY272fs	p.EY274fs			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1114_1117	-			274					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Frame_Shift_Del	DEL	ENST00000602553.1	37	c.820_823delGAAT	CCDS35023.1																																																																																				0.358	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		8	232						8	232	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106982976	106982985	+	Frame_Shift_Del	DEL	CCTATTTCTG	CCTATTTCTG	-	rs201130824		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:106982976_106982985delCCTATTTCTG	ENST00000369701.3	+	20	3064_3073	c.2837_2846delCCTATTTCTG	c.(2836-2847)acctatttctggfs	p.TYFW946fs	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	946					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGGACCCTTACCTATTTCTGGTGGTTCGGC	0.452																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2836-2847)agfs		sortilin-related VPS10 domain containing receptor 3																																				SO:0001589	frameshift_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106982976_106982985delCCTATTTCTG	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2837_2846delCCTATTTCTG	10.37:g.106982976_106982985delCCTATTTCTG	ENSP00000358715:p.Thr946fs					SORCS3_ENST00000369699.4_3'UTR	p.TYFW946fs	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	20	3064_3073	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	946					Q5VXF9|Q9NQJ2	Frame_Shift_Del	DEL	ENST00000369701.3	37	c.2837_2846delCCTATTTCTG	CCDS7558.1																																																																																				0.452	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		12	199						12	199	---	---	---	---
FOXRED1	55572	broad.mit.edu	37	11	126141384	126141387	+	Frame_Shift_Del	DEL	TGGA	TGGA	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:126141384_126141387delTGGA	ENST00000263578.5	+	2	212_215	c.138_141delTGGA	c.(136-141)cctggafs	p.PG46fs	SRPR_ENST00000532259.1_5'Flank|FOXRED1_ENST00000532125.1_Frame_Shift_Del_p.PG32fs|FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000534011.1_Intron|SRPR_ENST00000332118.6_5'Flank|SRPR_ENST00000530680.1_5'Flank	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	46						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGATCCTGCCTGGAAGGTCCTGTG	0.534																																						ENST00000263578.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(136-141)ccfs		FAD-dependent oxidoreductase domain containing 1																																				SO:0001589	frameshift_variant	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126141384_126141387delTGGA		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.138_141delTGGA	11.37:g.126141384_126141387delTGGA	ENSP00000263578:p.Pro46fs					FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000532125.1_Frame_Shift_Del_p.PG32fs	p.PG46fs	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	2	212_215	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	46					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Frame_Shift_Del	DEL	ENST00000263578.5	37	c.138_141delTGGA	CCDS8471.1																																																																																				0.534	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		9	58						9	58	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		15	43						15	43	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78211744	78211745	+	lincRNA	INS	-	-	C	rs370236276|rs4424879		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:78211744_78211745insC	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							aaaaaaaaaaaCCTCCTCTTGA	0.49																																						ENST00000565869.1																			0																																																			0							g.chr15:78211744_78211745insC																													15.37:g.78211746_78211746dupC						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	INS	ENST00000565869.1	37																																																																																						0.490	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	11						6	11	---	---	---	---
ATP6V0C	527	broad.mit.edu	37	16	2569726	2569733	+	Frame_Shift_Del	DEL	CTCATCCT	CTCATCCT	-	rs371275666		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2569726_2569733delCTCATCCT	ENST00000330398.4	+	3	682_689	c.448_455delCTCATCCT	c.(448-456)ctcatcctcfs	p.LIL150fs	RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6V0C_ENST00000565223.1_Frame_Shift_Del_p.LIL107fs|AMDHD2_ENST00000413459.3_5'Flank|AMDHD2_ENST00000293971.6_5'Flank|AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000564973.1_Frame_Shift_Del_p.LIL107fs|ATP6C_ENST00000569317.1_Intron	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	150					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				CATCGTCGCCCTCATCCTCTCCACAAAG	0.587																																						ENST00000330398.4																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(448-456)cfs		ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c																																				SO:0001589	frameshift_variant	527				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding	g.chr16:2569726_2569733delCTCATCCT	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.448_455delCTCATCCT	16.37:g.2569726_2569733delCTCATCCT	ENSP00000329757:p.Leu150fs					ATP6V0C_ENST00000564973.1_Frame_Shift_Del_p.LIL107fs|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6V0C_ENST00000565223.1_Frame_Shift_Del_p.LIL107fs|ATP6C_ENST00000569317.1_Intron	p.LIL150fs	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN			3	682_689	+		Ovarian(90;0.17)	150					Q6FH26	Frame_Shift_Del	DEL	ENST00000330398.4	37	c.448_455delCTCATCCT	CCDS10470.1																																																																																				0.587	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		14	70						14	70	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5463059	5463067	+	In_Frame_Del	DEL	GCCAAATAA	GCCAAATAA	-	rs374999246		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5463059_5463067delGCCAAATAA	ENST00000572272.1	-	4	948_956	c.949_957delTTATTTGGC	c.(949-957)ttatttggcdel	p.LFG317del	NLRP1_ENST00000577119.1_In_Frame_Del_p.LFG317del|NLRP1_ENST00000354411.3_In_Frame_Del_p.LFG317del|NLRP1_ENST00000262467.5_In_Frame_Del_p.LFG317del|NLRP1_ENST00000269280.4_In_Frame_Del_p.LFG317del|NLRP1_ENST00000345221.3_In_Frame_Del_p.LFG317del|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	317					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAGGCCTGGGCCAAATAAGTCTCTGATC	0.526																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(949-957)del		NLR family, pyrin domain containing 1																																				SO:0001651	inframe_deletion	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5463059_5463067delGCCAAATAA	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.949_957delTTATTTGGC	17.37:g.5463059_5463067delGCCAAATAA	ENSP00000460475:p.Leu317_Gly319del					NLRP1_ENST00000354411.3_In_Frame_Del_p.LFG317del|NLRP1_ENST00000572272.1_In_Frame_Del_p.LFG317del|NLRP1_ENST00000577119.1_In_Frame_Del_p.LFG317del|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_In_Frame_Del_p.LFG317del|NLRP1_ENST00000269280.4_In_Frame_Del_p.LFG317del	p.LFG317del	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	1503_1511	-		Colorectal(1115;3.48e-05)	317					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	In_Frame_Del	DEL	ENST00000572272.1	37	c.949_957delTTATTTGGC	CCDS42246.1																																																																																				0.526	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		26	174						26	174	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727240	7727242	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7727240_7727242delCTT	ENST00000572933.1	+	75	12878_12880	c.11418_11420delCTT	c.(11416-11421)tccttc>tcc	p.F3807del	DNAH2_ENST00000389173.2_In_Frame_Del_p.F3807del			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3807	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)				GCGTGACCTCCTTCATCATCACC	0.596																																						ENST00000572933.1																			0				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						c.(11416-11421)tcc>tc		dynein, axonemal, heavy chain 2																																				SO:0001651	inframe_deletion	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7727240_7727242delCTT	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.11418_11420delCTT	17.37:g.7727240_7727242delCTT	ENSP00000458355:p.Phe3807del					DNAH2_ENST00000389173.2_In_Frame_Del_p.SF3806del	p.SF3806del			Q9P225	DYH2_HUMAN			75	12878_12880	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3806			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	In_Frame_Del	DEL	ENST00000572933.1	37	c.11418_11420delCTT	CCDS32551.1																																																																																				0.596	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		38	37						38	37	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-	rs376314569|rs368840037		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:66141017delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAGATTTCTACAAAAAAAAAA	0.323																																						ENST00000590019.1																			0																																																			0							g.chr17:66141017delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141017delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.323	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			7	88						7	88	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72846817	72846817	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:72846817delC	ENST00000293190.5	-	5	1349	c.1203delG	c.(1201-1203)cggfs	p.R401fs	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Frame_Shift_Del_p.R401fs	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	401					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGTCAGGTGCCGACTGTCCA	0.652																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1201-1203)cgfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						64.0	51.0	55.0					17																	72846817		2203	4300	6503	SO:0001589	frameshift_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846817delC		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1203delG	17.37:g.72846817delC	ENSP00000293190:p.Arg401fs					GRIN2C_ENST00000347612.4_Frame_Shift_Del_p.R401fs	p.R401fs	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			5	1349	-	all_lung(278;0.172)|Lung NSC(278;0.207)		401					B2RTT1	Frame_Shift_Del	DEL	ENST00000293190.5	37	c.1203delG	CCDS32724.1																																																																																				0.652	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			13	46						13	46	---	---	---	---
LINC01597	400841	broad.mit.edu	37	20	29517388	29517388	+	lincRNA	DEL	C	C	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:29517388delC	ENST00000380888.3	-	0	98																											CAAGAGGAAGCCAGGAATGAG	0.552																																						ENST00000380888.3																			0																																																			0							g.chr20:29517388delC																													20.37:g.29517388delC														0	98	-									RNA	DEL	ENST00000380888.3	37																																																																																						0.552	RP4-610C12.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000256907.1			2	4						2	4	---	---	---	---
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs374776064|rs587611810|rs71199613	byFrequency	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688														1042	0.208067	0.1188	0.2522	5008	,	,		15055	0.1379		0.3231	False		,,,				2504	0.2515					ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(145-147)cgc>cCAGCTGCTGCGCCCCgc		keratin associated protein 10-6																																				SO:0001652	inframe_insertion	386674					keratin filament		g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.146_147insCAGCTGCTGCGCCCC	21.37:g.46012219_46012220insGGGGCGCAGCAGCTG	Exception_encountered					TSPEAR_ENST00000323084.4_Intron	p.48_49insPAAAP	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	166_167	-			48			29 X 5 AA repeats of C-C-X(3).			In_Frame_Ins	INS	ENST00000400368.1	37	c.146_147insCAGCTGCTGCGCCCC	CCDS42959.1																																																																																				0.688	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		13	38						13	38	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119678015	119678031	+	Frame_Shift_Del	DEL	TTAGTTTCTTCCAAAAA	TTAGTTTCTTCCAAAAA	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:119678015_119678031delTTAGTTTCTTCCAAAAA	ENST00000404115.3	-	9	1566_1582	c.1165_1181delTTTTTGGAAGAAACTAA	c.(1165-1182)tttttggaagaaactaacfs	p.FLEETN389fs	CUL4B_ENST00000336592.6_Frame_Shift_Del_p.FLEETN376fs|CUL4B_ENST00000371322.5_Frame_Shift_Del_p.FLEETN371fs|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	389					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATAGAGCCGGTTAGTTTCTTCCAAAAATCGTTGTTCA	0.332																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1111-1128)cfs		cullin 4B																																				SO:0001589	frameshift_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119678015_119678031delTTAGTTTCTTCCAAAAA	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1165_1181delTTTTTGGAAGAAACTAA	X.37:g.119678015_119678031delTTAGTTTCTTCCAAAAA	ENSP00000384109:p.Phe389fs					CUL4B_ENST00000404115.3_Frame_Shift_Del_p.FLEETN389fs|CUL4B_ENST00000336592.6_Frame_Shift_Del_p.FLEETN376fs	p.FLEETN371fs	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			7	1172_1188	-			389					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Frame_Shift_Del	DEL	ENST00000404115.3	37	c.1111_1127delTTTTTGGAAGAAACTAA	CCDS35379.1																																																																																				0.332	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		9	78						9	78	---	---	---	---
FAM161A	84140	broad.mit.edu	37	2	62053729	62053734	+	Splice_Site	DEL	TTAAAG	TTAAAG	-	rs370603613		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:62053729_62053734delTTAAAG	ENST00000405894.3	-	6	1940_1945	c.1839_1844delCTTTAA	c.(1837-1845)agctttaat>agt	p.FN614del	FAM161A_ENST00000404929.1_Splice_Site_p.FN670del	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	614	Glu-rich.				cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTCTTCATTAAAGCTAGGGGAAG	0.359																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e7-1		family with sequence similarity 161, member A																																				SO:0001630	splice_region_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62053729_62053734delTTAAAG		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1839-1CTTTAA>-	2.37:g.62053729_62053734delTTAAAG						FAM161A_ENST00000405894.3_Splice_Site_p.SFN613_splice	p.SFN669_splice	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			7	2018_2023	-			613					B4DJV7|Q9H8R2	Splice_Site	DEL	ENST00000405894.3	37	c.2006_splice	CCDS42687.2																																																																																				0.359	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	In_Frame_Del	7	14						7	14	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152467307	152467307	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:152467307delA	ENST00000172853.10	-	75	11297	c.11150delT	c.(11149-11151)ctgfs	p.L3717fs	NEB_ENST00000604864.1_Frame_Shift_Del_p.L3960fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.L3717fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.L3960fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.L3960fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.L3960fs			P20929	NEBU_HUMAN	nebulin	3717					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTCTTGGCCAGCAGGATATC	0.448																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(11878-11880)cgfs		nebulin							76.0	70.0	72.0					2																	152467307		1922	4134	6056	SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152467307delA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11150delT	2.37:g.152467307delA	ENSP00000172853:p.Leu3717fs					NEB_ENST00000172853.10_Frame_Shift_Del_p.L3717fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.L3717fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.L3960fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.L3960fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.L3960fs	p.L3960fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	79	12081	-			3960					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37	c.11879delT																																																																																					0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		10	6						10	6	---	---	---	---
CPNE9	151835	broad.mit.edu	37	3	9760258	9760258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9760258delT	ENST00000383832.3	+	17	1403	c.1213delT	c.(1213-1215)tttfs	p.F405fs	CPNE9_ENST00000383831.3_Frame_Shift_Del_p.F405fs	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	405	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GCCCACCTACTTTGCTCCTGT	0.562																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1213-1215)ttfs		copine family member IX							106.0	106.0	106.0					3																	9760258		1979	4172	6151	SO:0001589	frameshift_variant	151835							g.chr3:9760258delT		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1213delT	3.37:g.9760258delT	ENSP00000373343:p.Phe405fs					CPNE9_ENST00000383831.3_Frame_Shift_Del_p.F405fs	p.F405fs	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			17	1403	+	Medulloblastoma(99;0.227)		405			VWFA.		A1L430|A6NDX6|A8MSP8	Frame_Shift_Del	DEL	ENST00000383832.3	37	c.1213delT	CCDS2574.2																																																																																				0.562	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		40	71						40	71	---	---	---	---
FAM86JP	100125556	broad.mit.edu	37	3	125644069	125644078	+	RNA	DEL	CCACACCATG	CCACACCATG	-	rs557286816		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:125644069_125644078delCCACACCATG	ENST00000485843.1	+	0	482					NR_024251.1				family with sequence similarity 86, member J, pseudogene																		CCCCACACTCCCACACCATGCGGGGAACTA	0.671																																						ENST00000485843.1																			0																																																			0							g.chr3:125644069_125644078delCCACACCATG			3q21.2	2012-06-28			ENSG00000171084	ENSG00000171084			44097	pseudogene	pseudogene							Standard	NR_024250		Approved		uc003eif.4		OTTHUMG00000159586		3.37:g.125644069_125644078delCCACACCATG								NR_024251.1						0	482	+									RNA	DEL	ENST00000485843.1	37																																																																																						0.671	FAM86JP-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356339.1	NR_024251		8	13						8	13	---	---	---	---
HERC6	55008	broad.mit.edu	37	4	89300117	89300122	+	In_Frame_Del	DEL	GGAGGA	GGAGGA	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:89300117_89300122delGGAGGA	ENST00000264346.7	+	1	103_108	c.44_49delGGAGGA	c.(43-51)cggaggacg>ccg	p.15_17RRT>P	HERC6_ENST00000380265.5_In_Frame_Del_p.15_17RRT>P|HERC6_ENST00000273960.3_In_Frame_Del_p.15_17RRT>P	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	15					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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTGCAGCGCCGGAGGACGGCGGGCAG	0.699																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(43-51)ccg>c		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6																																				SO:0001651	inframe_deletion	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89300117_89300122delGGAGGA	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.44_49delGGAGGA	4.37:g.89300117_89300122delGGAGGA	ENSP00000264346:p.Arg15_Thr17delinsPro					HERC6_ENST00000273960.3_In_Frame_Del_p.RRT15del|HERC6_ENST00000264346.7_In_Frame_Del_p.RRT15del	p.RRT15del	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	1	227_232	+		Hepatocellular(203;0.114)	15					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	In_Frame_Del	DEL	ENST00000264346.7	37	c.44_49delGGAGGA	CCDS47098.1																																																																																				0.699	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			4	7						4	7	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		2	4						2	4	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48312173	48312174	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:48312173_48312174delAT	ENST00000435803.1	+	17	2934_2935	c.2910_2911delAT	c.(2908-2913)cgatatfs	p.Y971fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	971					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATTTTACCGATATATTTATGA	0.287																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2908-2913)cgatfs		ATP-binding cassette, sub-family A (ABC1), member 13																																				SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312173_48312174delAT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2910_2911delAT	7.37:g.48312177_48312178delAT	ENSP00000411096:p.Tyr971fs						p.RY970fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2934_2935	+			970					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.2910_2911delAT	CCDS47584.1																																																																																				0.287	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		29	64						29	64	---	---	---	---
RFC2	5982	broad.mit.edu	37	7	73663399	73663400	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:73663399_73663400insC	ENST00000055077.3	-	4	334_335	c.274_275insG	c.(274-276)gccfs	p.A92fs	RFC2_ENST00000352131.3_Frame_Shift_Ins_p.A92fs	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	92					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GCCCAGCAGGGCCCGGGCCAAG	0.559																																						ENST00000055077.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						c.(274-276)cctfs		replication factor C (activator 1) 2, 40kDa																																				SO:0001589	frameshift_variant	5982				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr7:73663399_73663400insC		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.275dupG	7.37:g.73663402_73663402dupC	ENSP00000055077:p.Ala92fs					RFC2_ENST00000352131.3_Frame_Shift_Ins_p.P92fs	p.P92fs	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN			4	334_335	-			92					B5BU07|D3DXG3|P32846|Q9BU93	Frame_Shift_Ins	INS	ENST00000055077.3	37	c.274_275insG	CCDS5568.1																																																																																				0.559	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471		12	179						12	179	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494020	65494021	+	In_Frame_Ins	INS	-	-	GCA	rs71561231|rs34265378|rs62519836|rs564889045	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:65494020_65494021insGCA	ENST00000321870.1	+	1	1207_1208	c.673_674insGCA	c.(673-675)ggc>gGCAgc	p.234_235insS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggcagcggcggcagcagcagc	0.718																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			1	Deletion - In frame(1)	p.S234delS(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-675)cag>GCAcag		basic helix-loop-helix family, member e22																																				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494020_65494021insGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.701_703dupGCA	8.37:g.65494027_65494029dupGCA	ENSP00000318799:p.Ser234_Ser234dup					RP11-21C4.1_ENST00000517909.1_RNA	p.224_225insA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1207_1208	+			224			Gly-rich.|Ser-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.673_674insGCA	CCDS6179.1																																																																																				0.718	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		4	3						4	3	---	---	---	---
CHUK	1147	broad.mit.edu	37	10	101969490	101969490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101969490delA	ENST00000370397.7	-	10	1076	c.990delT	c.(988-990)cctfs	p.P330fs		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	330					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|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)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|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)|intracellular membrane-bounded organelle (GO:0043231)|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)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GACTTTCATCAGGTGGTAACA	0.323																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(988-990)ccfs		conserved helix-loop-helix ubiquitous kinase							66.0	69.0	68.0					10																	101969490		2203	4300	6503	SO:0001589	frameshift_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101969490delA	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.990delT	10.37:g.101969490delA	ENSP00000359424:p.Pro330fs						p.P330fs	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	10	1076	-		Colorectal(252;0.117)	330					O14666|Q13132|Q5W0I4|Q92467	Frame_Shift_Del	DEL	ENST00000370397.7	37	c.990delT	CCDS7488.1																																																																																				0.323	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		36	34						36	34	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		21	48						21	48	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44974154	44974155	+	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	rs71108655|rs375198387|rs3840828	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	ENST00000340446.4	-	1	2327_2328	c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	c.(2035-2037)cct>ccCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCt	p.679_679P>PSEVQPPPAEEAP	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	679	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAACTTCAGCAGGGGCCTCCTC	0.604																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2035-2037)cgc>cCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCgc		fibrous sheath CABYR binding protein				1640,2526		400,840,843						-1.0	0.0		dbSNP_107	31	3827,4381		924,1979,1201	no	coding	FSCB	NM_032135.3		1324,2819,2044	A1A1,A1R,RR		46.6252,39.3663,44.1813				5467,6907				SO:0001652	inframe_insertion	84075					cilium		g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	14.37:g.44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	Exception_encountered						p.678_679insPLKFSLHQLRRP	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2327_2328	-			678			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	In_Frame_Ins	INS	ENST00000340446.4	37	c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	CCDS9679.1																																																																																				0.604	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		8	23						8	23	---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:99641544_99641546delCTC	ENST00000357195.3	-	4	1636_1638	c.1627_1629delGAG	c.(1627-1629)gagdel	p.E543del	BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del|BCL11B_ENST00000345514.2_In_Frame_Del_p.E472del	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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 positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.7			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1414-1416)del		B-cell CLL/lymphoma 11B (zinc finger protein)			,	259,3515		17,225,1645					,	1.8	1.0			6	544,6744		46,452,3146	no	coding,coding	BCL11B	NM_138576.2,NM_022898.1	,	63,677,4791	A1A1,A1R,RR		7.4643,6.8627,7.2591	,	,		803,10259				SO:0001651	inframe_deletion	64919					nucleus	zinc ion binding	g.chr14:99641544_99641546delCTC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1627_1629delGAG	14.37:g.99641553_99641555delCTC	ENSP00000349723:p.Glu543del					BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del	p.E472del	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1680_1682	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	543					Q9H162	In_Frame_Del	DEL	ENST00000357195.3	37	c.1414_1416delGAG	CCDS9950.1																																																																																				0.700	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		2	4						2	4	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78211744	78211745	+	lincRNA	INS	-	-	C	rs370236276|rs4424879		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:78211744_78211745insC	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							aaaaaaaaaaaCCTCCTCTTGA	0.49																																						ENST00000565869.1																			0																																																			0							g.chr15:78211744_78211745insC																													15.37:g.78211746_78211746dupC						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	INS	ENST00000565869.1	37																																																																																						0.490	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	4						5	4	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531236	30531238	+	In_Frame_Del	DEL	GCG	GCG	-	rs151035888		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30531236_30531238delGCG	ENST00000356798.6	+	30	3467_3469	c.3287_3289delGCG	c.(3286-3291)agcggc>agc	p.G1097del	ITGAL_ENST00000433423.2_In_Frame_Del_p.G331del|ITGAL_ENST00000358164.5_In_Frame_Del_p.G1013del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1097					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TACGTGCTGAGCGGCATCGGGGG	0.586																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3286-3291)agc>a		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001651	inframe_deletion	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531236_30531238delGCG		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3287_3289delGCG	16.37:g.30531236_30531238delGCG	ENSP00000349252:p.Gly1097del					ITGAL_ENST00000433423.2_In_Frame_Del_p.SG330del|ITGAL_ENST00000358164.5_In_Frame_Del_p.SG1012del	p.SG1096del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3467_3469	+			1096					O43746|Q45H73|Q96HB1|Q9UBC8	In_Frame_Del	DEL	ENST00000356798.6	37	c.3287_3289delGCG	CCDS32433.1																																																																																				0.586	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			60	150						60	150	---	---	---	---
KRTAP4-5	85289	broad.mit.edu	37	17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC	rs535144703|rs141265645|rs58117746|rs146438235	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653														2119	0.423123	0.5401	0.4236	5008	,	,		17097	0.3065		0.3897	False		,,,				2504	0.4192					ENST00000343246.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(244-246)gac>GCCCCAGCTGCTGCCgac		keratin associated protein 4-5																																				SO:0001652	inframe_insertion	85289					keratin filament		g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.244_245insGCCCCAGCTGCTGCC	17.37:g.39305775_39305776insGGCAGCAGCTGGGGC	ENSP00000340546:p.Cys81_Gln82insArgProSerCysCys						p.81_82insAPAAA	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	278_279	-		Breast(137;0.000496)	81		Missing (in allele KAP4.5-v1).	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			In_Frame_Ins	INS	ENST00000343246.4	37	c.244_245insGCCCCAGCTGCTGCC	CCDS32650.1																																																																																				0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			33	8						33	8	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19136155	19136155	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19136155delT	ENST00000601879.1	-	3	1299	c.1002delA	c.(1000-1002)aaafs	p.K334fs	SUGP2_ENST00000452918.2_Frame_Shift_Del_p.K334fs|SUGP2_ENST00000456085.2_Frame_Shift_Del_p.K103fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.K334fs|SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.K348fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	334					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATCCTGCCCATTTGATTATTT	0.378																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1000-1002)aafs		SURP and G patch domain containing 2							64.0	69.0	67.0					19																	19136155		2203	4300	6503	SO:0001589	frameshift_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136155delT	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1002delA	19.37:g.19136155delT	ENSP00000472286:p.Lys334fs					SUGP2_ENST00000452918.2_Frame_Shift_Del_p.K334fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.K348fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.K334fs|SUGP2_ENST00000456085.2_Frame_Shift_Del_p.K103fs	p.K334fs			Q8IX01	SUGP2_HUMAN			3	1299	-			334					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Del	DEL	ENST00000601879.1	37	c.1002delA	CCDS12392.1																																																																																				0.378	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		49	74						49	74	---	---	---	---
SPACA6P-AS	102238594	broad.mit.edu	37	19	52195750	52195750	+	lincRNA	DEL	G	G	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52195750delG	ENST00000602324.1	-	0	823				MIR99B_ENST00000384819.1_RNA|MIRLET7E_ENST00000362102.1_RNA|MIR125A_ENST00000385273.1_RNA|LINC00085_ENST00000573266.1_RNA	NR_029482.1|NR_029693.1																						gggttctttagggaggagggg	0.622																																						ENST00000602324.1																			0																																																			0							g.chr19:52195750delG																													19.37:g.52195750delG								NR_029482.1|NR_029693.1						0	823	-									RNA	DEL	ENST00000602324.1	37																																																																																						0.622	hsa-mir-125a.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467329.1			2	4						2	4	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		9	95						9	95	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136648985	136648987	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:136648985_136648987delCGC	ENST00000287538.5	+	1	685_687	c.135_137delCGC	c.(133-138)cacgcc>cac	p.A55del	RP1-137H15.2_ENST00000456631.1_RNA|ZIC3_ENST00000370606.3_In_Frame_Del_p.A55del|RP1-137H15.2_ENST00000442841.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	55	Poly-Ala.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACTCAACCCAcgccgccgccgcc	0.719																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(133-138)cac>ca		Zic family member 3				60,940		22,10,6,431,68						4.2	1.0			3	130,2214		24,44,38,840,490	no	coding	ZIC3	NM_003413.3		46,54,44,1271,558	A1A1,A1R,A1,RR,R		5.5461,6.0,5.6818				190,3154				SO:0001651	inframe_deletion	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136648985_136648987delCGC	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.135_137delCGC	X.37:g.136648994_136648996delCGC	ENSP00000287538:p.Ala55del					ZIC3_ENST00000370606.3_In_Frame_Del_p.HA45del	p.HA45del	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	685_687	+	Acute lymphoblastic leukemia(192;0.000127)		45					B2CNW4|Q14DE5|Q5JY75	In_Frame_Del	DEL	ENST00000287538.5	37	c.135_137delCGC	CCDS14663.1																																																																																				0.719	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			3	6						3	6	---	---	---	---
